Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES971	WT	HH	HZ	NC
chr1	962773	962773	C	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon6:c.C898A:p.L300M	.	409	1103	10	0	0	10	0.00451264	.	.	.	2805456	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.223	0.0190368557808	0.0008	0.00139776	0.0016	0	0.0010	0	0	0.0010	0.0037	0.0067	0.0013777	213	154602	rs147703918	0.0010	0.0010	0.0008	0.0012	0.0061	0.0009	0.0009	0.0057	0.0055	5.977e-05	0.0004	0.0010	0	0.0004	0.0035	0.0007	0.0010	0.0061	0.0008	0.0008	0.0009	0.0008	0.0050	0.0007	0.0007	0.0034	0.0029	9.626e-05	0.0143	0.0003	0.0006	0	0.0002	0.0034	0.0011	0.0009	0.0050	0.025	0.47320	D	0.058	0.46182	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	0.8	0.48769	T	-1.49	0.36385	N	0.816	0.81162	-0.5845	0.65439	T	0.271	0.64224	T	10	0.012067974	0.00261	T	0.019037	0.41292	T	0.223	0.52023	.	.	0.560266599596	0.55688	0.5334197667721078	0.53266	.	.	0.65943479538	0.61328	T	0.075633	0.35223	T	-0.256202	0.13349	T	-0.138597	0.60240	T	0.136659324169159	0.15984	T	0.877212	0.59013	D	0.42285928	0.62281	0.21547383	0.46137	0.42285928	0.62282	0.21547383	0.46136	-9.006	0.67737	D	0.2608589584586656	0.35223	0.268	0.50222	B	.;.	.;.	3.522442	0.49381	22.8	0.77120551908449975	0.11745	0.98848	0.87654	D	AEFDBI	0.592336	0.58808	D	0.476522751908751	0.65723	4.858365	0.462569583091021	0.65527	4.835191	0.999999999690701	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	2.770000	0.47346	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:1.0:0.0:0.0	18.561	0.91055	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001362	0.000000	0.000000	0.008621	0.006098	0.011450	0.02632	1577.33	35	chr1	962773	.	C	A	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=809;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.794;SOR=1.182	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1591,0,1543	18	0	1	0
chr1	1197681	1197681	C	T	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.C1856T:p.P619L,TTLL10:NM_001371649:exon16:c.C1856T:p.P619L	.	418	1087	16	1	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00219649	0.0070	0	0.0125	0	0	0.0036	0.02	0.0082	0.001022	158	154602	rs555101871	0.0065	0.0062	0.0064	0.0066	0.0090	0.0064	0.0063	0.0084	0.0082	0.0013	0.0012	0.0015	0	0.0107	0.0068	0.0069	0.0047	0.0090	0.0051	0.0051	0.0048	0.0054	0.0069	0.0048	0.0047	0.0063	0.0061	0.0011	0.0768	0.0019	0.0017	0.0002	0.0116	0.0171	0.0069	0.0019	0.0052	0.234	0.18061	T	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.76	0.21215	N	0.082	0.05799	-0.9387	0.42822	T	0.010	0.03537	T	9	0.003720343	0.00069	T	.	.	.	0.006	0.00375	.	.	0.0846915920261	0.08053	0.18763150132946943	0.18681	0.0274691007543	0.02809	0.656124472618	0.60855	T	0.004927	0.04354	T	-0.712889	0.00031	T	-0.791102	0.02134	T	0.00722743942552826	0.00083	T	0.372463	0.08834	T	0.019925069	0.00535	0.031236721	0.01685	0.019925069	0.00535	0.031236721	0.01685	-4.605	0.32234	T	.	.	0.073	0.04806	B	.;.	.;.	-1.159278	0.00573	0.014	0.68161817225738608	0.08574	0.00179	0.01050	N	AEFBI	0.019223	0.00648	N	-1.81101660615736	0.00519	0.02232936	-1.9368135914713	0.00413	0.01827502	0.775491163512729	0.23745	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.48	-2.96	0.05212	-5.520000	0.00139	-4.626000	0.02062	-4.093000	0.00043	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2286:0.4072:0.1702:0.194	1.026	0.01432	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006219	0.000000	0.000000	0.000000	0.000000	0.000000	0.013514	0.033333	0.05263	590.83	39	chr1	1197681	.	C	T	590.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.324;DP=585;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=2.27;SOR=0.653	GT:AD:DP:GQ:PL	0/1:10,13:23:99:269,0,236	17	0	2	0
chr1	1599376	1599376	G	T	exonic	FNDC10	.	nonsynonymous SNV	FNDC10:NM_001242659:exon1:c.C640A:p.R214S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000199681	0.0003	0.0101	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs565283872	1.668e-05	1.779e-05	4.297e-06	2.939e-05	0.0002	1.111e-05	9.28e-06	0.0001	8.504e-05	0	0	0	0	0	0.0002	6.497e-06	1.736e-05	0.0002	1.976e-05	1.971e-05	1.289e-05	2.696e-05	0.0004	5.25e-06	2.46e-06	7.33e-05	3.044e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.677	0.04469	T	0.627	0.07267	T	.	.	.	.	.	.	.	.	.	.	0.998201	0.22293	N	.	.	.	.	.	.	-0.35	0.12847	N	0.056	0.02759	-1.0206	0.23519	T	0.038	0.16290	T	6	0.006065905	0.00136	T	.	.	.	0.026	0.05648	0.296	0.26041	0.0611884634855	0.05136	0.6327815123752162	0.63212	.	.	.	.	.	0.002967	0.02360	T	-0.367319	0.03732	T	-0.528736	0.19413	T	0.0413914094315572	0.03943	T	0.443756	0.12347	T	0.13689983	0.31719	0.10336422	0.24799	0.13689983	0.31719	0.10336422	0.24799	-3.714	0.19525	T	.	.	0.205	0.43032	B	.	.	2.663516	0.34704	19.70	0.65463607175718497	0.07780	0.80973	0.40478	D	AEFDBCIJ	0.426314	0.49072	N	-0.256507759344849	0.30844	1.72374	-0.150931210717898	0.33372	1.908309	0.999785820909814	0.43007	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.600526	0.37237	0	.	.	4.13	3.19	0.35720	1.130000	0.31007	8.066000	0.76420	0.511000	0.23309	0.999000	0.42656	1.000000	0.68203	0.865000	0.41091	0.0:0.0:0.6557:0.3443	10.672	0.44959	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	40	chr1	1599376	.	G	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.013;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.156;SOR=0.715	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1161,0,677	18	0	1	0
chr1	1640354	1640354	C	T	exonic	CDK11B	.	nonsynonymous SNV	CDK11B:NM_033487:exon9:c.G406A:p.D136N,CDK11B:NM_033490:exon10:c.G523A:p.D175N,CDK11B:NM_001291345:exon11:c.G1144A:p.D382N,CDK11B:NM_001787:exon11:c.G1213A:p.D405N,CDK11B:NM_033486:exon11:c.G1174A:p.D392N,CDK11B:NM_033489:exon12:c.G1072A:p.D358N	.	0	1506	16	0	0	16	0.00528402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0187	0.0014	0.0035	0.0058	0.0010	0.0024	0.0045	6.5e-06	1	154602	rs780499738	0.0002	0.0030	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0.0010	0.0004	3.905e-05	0.0002	0.0002	0.0004	4.338e-05	0.0002	0.0012	0.0007	0.0080	0.0006	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0002	0	0.0008	9.764e-05	0	0.0001	0.0010	0.0019	.	.	.	0.319	0.27503	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	0.891697	0.35967	D	.	.	.	.	.	.	.	.	.	0.159	0.24385	.	.	.	.	.	.	.	0.0073722303	0.00168	T	.	.	.	.	.	.	.	0.501370866149	0.49774	0.18148911043055882	0.18067	1.85689283172	0.92355	0.58371847868	0.50609	T	0.091634	0.38837	T	-0.161678	0.26503	T	-0.470015	0.25516	T	.	.	.	0.813219	0.76563	T	0.08692045	0.20221	0.15030116	0.35453	0.08692045	0.20221	0.15030116	0.35452	-11.192	0.82869	D	.	.	0.087	0.11076	B	.;.;.;.;.;.	.;.;.;.;.;.	3.729412	0.53338	23.4	0.9014835973866383	0.19427	0.61146	0.31400	D	AEFGI	0.142068	0.26441	N	.	.	.	.	.	.	0.235945177207679	0.18518	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	4.91	0.63897	4.329000	0.59046	7.400000	0.58569	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	17.502	0.87630	809	0.43032	.;.;.;.;.;.	.	.	.	.	.	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	0.021910	0.079268	0.012262	0.017391	0.000000	0.026786	0.013605	0.007937	0.05263	172.22	33	chr1	1640354	.	C	T	172.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.45;DP=984;ExcessHet=0.119;FS=44.051;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=45.7;MQRankSum=-4.368;QD=0.5;ReadPosRankSum=-4.242;SOR=3.655	GT:AD:DP:GQ:PL	0/1:160,16:176:7:7,0,4266	17	0	2	0
chr1	3477914	3477914	C	G	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon11:c.C1513G:p.R505G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.272506661583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.999	0.77913	D	0.983	0.75793	D	0.000006	0.62929	D	0.062610	0.999991	0.58761	D	3.35	0.91085	M	-0.04	0.63240	T	-5.71	0.89684	D	0.786	0.78262	-0.0090	0.82070	T	0.439	0.77771	T	10	0.76210886	0.76424	D	0.272507	0.89932	D	0.439	0.74306	0.555	0.67271	0.594818968187	0.59160	0.6784760907161937	0.67786	0.975079256264	0.73533	0.57875585556	0.49911	T	0.266602	0.63856	T	0.16751	0.70894	D	0.0028403	0.70520	D	0.996039271354675	0.88541	D	0.956404	0.89360	D	0.77112925	0.82116	0.6979472	0.82210	0.77112925	0.82118	0.6979472	0.82211	-10.383	0.80952	D	.	.	0.363	0.57380	A	.;.;.	.;.;.	4.652418	0.74177	26.1	0.99371758805650212	0.61455	0.80885	0.40411	D	AEFDBCI	0.645242	0.62121	D	0.137922929491642	0.48239	3.03886	0.00137814956054511	0.39780	2.363846	0.546940934656162	0.21301	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.38	1.93	0.24985	1.288000	0.32901	3.880000	0.40234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.4946:0.5054:0.0:0.0	15.305	0.73687	982	0.03397	Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2743.33	197	chr1	3477914	.	C	G	2743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=3384;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,107:224:99:0|1:3477892_T_C:2757,0,2915:3477892	18	0	1	0
chr1	3524189	3524189	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon5:c.C539T:p.P180L	.	421	1084	16	1	0	18	0.00823422	.	.	.	2805579	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.319	.	0.0090	0.00339457	0.0091	0.0016	0.0032	0	0.0183	0.0118	0.0115	0.0080	0.008648	1337	154602	rs41307039	0.0095	0.0095	0.0093	0.0098	0.0132	0.0094	0.0093	0.0108	0.0099	0.0016	0.0038	0.0051	2.519e-05	0.0183	0.0132	0.0101	0.0090	0.0085	0.0083	0.0083	0.0080	0.0087	0.0128	0.0079	0.0078	0.0121	0.0118	0.0017	0	0.0046	0.0084	0	0.0174	0.0034	0.0128	0.0071	0.0056	1.0	0.00964	T	0.7	0.06090	T	0.0	0.14655	B	0.003	0.19653	B	0.176341	0.17227	N	0.574091	1	0.08975	N	1.445	0.36358	L	-4.35	0.97292	D	-3.33	0.66665	D	0.365	0.40665	-0.1257	0.79502	T	0.701	0.89709	D	10	0.01093924	0.00241	T	.	.	.	0.319	0.64112	.	.	0.718680186441	0.71620	0.11970700306402762	0.11897	0.108435841753	0.12232	0.31463265419	0.12608	T	0.098219	0.40183	T	-0.217027	0.18401	T	-0.0702409	0.65609	T	0.00687189192075251	0.00078	T	0.607039	0.22875	T	0.043427527	0.06765	0.073549464	0.15995	0.043427527	0.06765	0.073549464	0.15995	-2.124	0.09024	T	.	.	0.065	0.04517	B	.;.	.;.	0.743431	0.11128	7.773	0.41489668936329838	0.02997	0.05968	0.11927	N	AEFBCI	0.055650	0.10223	N	-1.36920547336596	0.02931	0.1301612	-1.34149227628052	0.03907	0.1832232	0.992068586426688	0.32706	0.67177	0.52595	0	0.547309	0.14657	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.0	1.88	0.24630	1.145000	0.31189	3.127000	0.36425	-0.873000	0.02525	0.637000	0.28059	1.000000	0.68203	0.405000	0.26894	0.1613:0.1296:0.7091:0.0	8.712	0.33552	976	0.04745	.;EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015136	0.030303	0.009511	0.029240	0.000000	0.025862	0.015244	0.007634	0.05263	2415.83	38	chr1	3524189	.	G	A	2415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.612;DP=804;ExcessHet=0.119;FS=4.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.02;SOR=0.457	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1328,0,972	17	0	2	0
chr1	6579124	6579124	C	T	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_177540:exon5:c.C1304T:p.A435V,TAS1R1:NM_138697:exon6:c.C2066T:p.A689V	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0376526712709	0.0018	0.00139776	0.0018	0.0002	0.0003	0	0.0005	0.0024	0	0.0028	0.0018111	280	154602	rs114555118	0.0026	0.0026	0.0027	0.0026	0.0031	0.0026	0.0025	0.0030	0.0030	0.0005	0.0004	0	0	0.0005	0.0014	0.0031	0.0016	0.0027	0.0013	0.0013	0.0014	0.0012	0.0035	0.0012	0.0011	0.0022	0.0019	0.0004	0	0.0003	0	0	9.407e-05	0	0.0023	0.0014	0.0035	1.0	0.00964	T	0.937	0.02717	T	0.015	0.22227	B	0.022	0.19653	B	0.738748	0.06415	N	1.126930	1	0.08975	N	-0.63	0.02141	N	-1.91	0.84701	D	1.15	0.01151	N	0.075	0.09066	-0.8869	0.49198	T	0.256	0.62643	T	10	0.005949557	0.00133	T	0.037653	0.57750	D	0.142	0.37995	.	.	0.470401675101	0.46669	0.10029127665834722	0.09960	0.170216262749	0.19188	0.255048185587	0.04318	T	0.071376	0.34191	T	-0.477406	0.00766	T	-0.458544	0.26759	T	0.014427088133517	0.00291	T	0.706929	0.31753	T	0.03904084	0.05317	0.08998997	0.21077	0.03904084	0.05317	0.08998997	0.21076	-2.318	0.04655	T	.	.	0.070	0.04723	B	.;.	.;.	-0.732979	0.01246	0.064	0.6983432268061508	0.09099	0.01541	0.05062	N	AEFGBHI	0.057583	0.10740	N	-1.47999514838448	0.01991	0.08747837	-1.44440124198584	0.02821	0.1304695	0.999937190473512	0.46732	0.428477	0.06694	0	0.547309	0.14657	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	5.37	-1.99	0.07047	-1.953000	0.01617	-0.384000	0.09521	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.0:0.387:0.0:0.613	12.57	0.55681	768	0.49510	GPCR family 3, C-terminal|GPCR family 3, 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	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	2891.33	35	chr1	6579124	.	C	T	2891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.107;DP=856;ExcessHet=0;FS=5.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.292;SOR=0.47	GT:AD:DP:GQ:PL	0/1:117,107:224:99:2905,0,3279	18	0	1	0
chr1	7827202	7827202	G	A	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon18:c.G2273A:p.S758N,PER3:NM_001289862:exon18:c.G2273A:p.S758N,PER3:NM_001289863:exon18:c.G2252A:p.S751N,PER3:NM_001289864:exon18:c.G1316A:p.S439N,PER3:NM_001377275:exon18:c.G2273A:p.S758N,PER3:NM_001377276:exon18:c.G2252A:p.S751N,PER3:NM_016831:exon18:c.G2249A:p.S750N	.	410	1084	28	0	0	28	0.0127505	.	.	.	696879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.090	.	0.0045	0.00299521	0.0057	0.0015	0.0025	0.0001	0.0020	0.0067	0.0068	0.0109	0.0055303	855	154602	rs140974114	0.0067	0.0067	0.0067	0.0068	0.0107	0.0066	0.0066	0.0087	0.0085	0.0012	0.0030	0.0038	0	0.0020	0.0107	0.0075	0.0053	0.0092	0.0047	0.0047	0.0051	0.0043	0.0075	0.0044	0.0043	0.0070	0.0067	0.0014	0.0230	0.0033	0.0052	0	0.0015	0.0136	0.0075	0.0052	0.0058	0.06	0.53172	T	0.023	0.57587	D	0.443	0.35940	B	0.112	0.31615	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.935	0.51832	L	2.7	0.12371	T	-1.11	0.28703	N	0.062	0.07125	-0.9394	0.42711	T	0.038	0.16246	T	10	0.0038220286	0.00072	T	.	.	.	0.090	0.26093	.	.	0.402899589544	0.39908	0.10486589036774804	0.10416	0.222339536116	0.24767	0.255118489265	0.04326	T	0.058268	0.50683	T	-0.699133	0.00037	T	-0.767638	0.02847	T	0.0246835238520997	0.01231	T	0.353565	0.07967	T	0.1713542	0.37764	0.16042301	0.37365	0.13994	0.32306	0.16042301	0.37364	-5.066	0.37548	T	0.3907261575740155	0.48394	0.111	0.24733	B	.;.;.;.	.;.;.;.	1.112850	0.14983	11.49	0.98711722552166736	0.45069	0.19769	0.20788	N	AEFDBHCI	0.059648	0.11282	N	-0.652478039679611	0.17388	0.8943448	-0.748341493480713	0.15762	0.8306339	0.999999997561841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.43	2.48	0.29194	0.661000	0.24706	0.091000	0.14516	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.2986:0.7014:0.0	12.329	0.54353	524	0.74079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009063	0.010101	0.004076	0.008772	0.050000	0.017241	0.012195	0.007576	0.02632	1108.33	35	chr1	7827202	.	G	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=839;ExcessHet=0;FS=10.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.579;SOR=1.923	GT:AD:DP:GQ:PL	0/1:31,37:68:99:1122,0,746	18	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,14:53:8:.:.:8,0,708:.	5	0	11	3
chr1	11059899	11059913	GGCGGCGGGGCCGGA	-	exonic	SRM	.	nonframeshift deletion	SRM:NM_003132:exon1:c.31_45del:p.S11_A15del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs745582057	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0.0002	0	0.0005	6.634e-05	0.0002	0.0024	0.0001	0.0001	0.0001	0.0002	0.0022	8.898e-05	7.446e-05	0.0012	0.0009	4.897e-05	0	0.0002	0	0.0002	0	0.0034	2.991e-05	0.0005	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	343.3	9	chr1	11059898	.	TGGCGGCGGGGCCGGA	T	343.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=1.36;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,9:13:99:357,0,140	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:725,88:813:99:.:.:698,0,22110:.	1	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:962,124:1086:99:.:.:757,0,27350:.	1	0	18	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:470,294:764:99:.:.:7828,0,14894:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:575,165:740:99:3269,0,19648	0	0	19	0
chr1	16565743	16565743	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	371	1143	8	0	0	8	0.00348736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000424155916811	.	.	0.0047	0.0002	0.0042	0.0432	0.0068	0.0018	0.0041	0.0041	3.84e-05	1	26028	rs751463241	0.0008	0.0065	0.0009	0.0008	0.0099	0.0008	0.0007	0.0089	0.0085	4.669e-05	0.0005	0.0008	0.0099	0.0011	0.0007	0.0004	0.0008	0.0006	0.0015	0.0077	0.0013	0.0017	0.0311	0.0013	0.0013	0.0263	0.0245	0.0001	0.0011	0.0015	0.0012	0.0311	0.0027	0	0.0006	0	0.0036	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.004956335	0.00106	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.03683685617969525	0.03630	.	.	0.513144373894	0.40661	T	.	.	.	-0.536241	0.00353	T	-1.00805	0.00124	T	.	.	.	0.671933	0.29067	T	.	.	.	.	.	.	.	.	-6.609	0.51122	T	.	.	0.153	0.34116	B	.;.	.;.	-1.008665	0.00759	0.024	0.26712109848767318	0.01292	0.00675	0.02904	N	AEFDBCI	0.027883	0.02356	N	.	.	.	.	.	.	0.937545910733759	0.27302	0.117366	0.03044	2	0.127614	0.03486	1	0.117015	0.03184	2	0.195052	0.04227	1	.	.	0.904	-1.56	0.08080	-1.657000	0.02081	-20.000000	0.00162	-3.794000	0.00059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4808:0.0:0.5192	4.006	0.09089	492	0.76569	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006857	0.000000	0.005464	0.000000	0.000000	0.000000	0.010345	0.020492	0.02632	243.33	112	chr1	16565743	.	C	T	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.193;DP=3073;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.34;MQRankSum=-0.534;QD=0.4;ReadPosRankSum=-1.2;SOR=0.643	GT:AD:DP:GQ:PL	0/1:535,71:606:99:257,0,15219	18	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:273,82:355:99:1784,0,7948	7	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10:85:99:0|1:16579293_A_G:181,0,3091:16579293	4	0	15	0
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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10:85:99:0|1:16579293_A_G:181,0,3091:16579293	4	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:56,21:77:99:515,0,1738	1	7	11	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:173,37:210:99:646,0,5034	9	0	10	0
chr1	18908644	18908644	C	T	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon9:c.G1471A:p.V491M	.	426	1057	37	2	0	41	0.0190255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0031	0.0191693	0.0174	0.0009	0.0148	0.0356	0.0081	0.0050	0.0124	0.0363	0.0039003	603	154602	rs41273179	0.0064	0.0061	0.0054	0.0074	0.0423	0.0063	0.0063	0.0411	0.0406	0.0006	0.0019	0.0043	0.0334	0.0086	0.0133	0.0030	0.0083	0.0423	0.0057	0.0057	0.0046	0.0068	0.0473	0.0054	0.0052	0.0423	0.0404	0.0006	0.0022	0.0024	0.0049	0.0355	0.0094	0.0102	0.0037	0.0071	0.0473	0.037	0.46129	D	0.108	0.38160	T	0.037	0.20876	B	0.01	0.14941	B	0.256265	0.15405	N	0.641027	0.550871	0.31335	N	0.695	0.17993	N	-1.95	0.85003	D	-0.71	0.34198	N	0.071	0.04426	-0.7802	0.56291	T	0.131	0.44208	T	10	0.0031760335	0.00053	T	.	.	.	0.253	0.56294	.	.	.	.	0.36122193198083963	0.36036	0.947121618787	0.72452	0.596976280212	0.52478	T	0.032376	0.22457	T	-0.362743	0.03977	T	-0.262416	0.48582	T	0.0104237281492568	0.00143	T	0.843416	0.52040	T	0.058266602	0.11703	0.060319424	0.11469	0.058266602	0.11702	0.060319424	0.11469	-7.111	0.54839	T	.	.	0.102	0.17953	B	.;.	.;.	3.218122	0.43831	21.8	0.99769784996725919	0.85834	0.86019	0.45224	D	AEFDBCIJ	0.167416	0.29409	N	-0.578870679471262	0.19586	1.026314	-0.47430069681771	0.22865	1.244038	0.999999369034663	0.74766	0.75658	0.98901	0	0.698795	0.70079	0	0.616094	0.41390	0	0.656636	0.63459	0	.	.	4.5	-0.586	0.11108	2.282000	0.43122	0.092000	0.14529	0.599000	0.40250	0.965000	0.33920	0.002000	0.18203	1.000000	0.97212	0.0:0.6456:0.0:0.3544	9.487	0.38102	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007659	0.000000	0.000000	0.008696	0.000000	0.000000	0.005435	0.029412	0.02632	1567.33	38	chr1	18908644	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=772;ExcessHet=0;FS=3.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.381;SOR=0.758	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1581,0,1422	18	0	1	0
chr1	20501217	20501217	G	A	exonic	MUL1	.	nonsynonymous SNV	MUL1:NM_024544:exon4:c.C532T:p.R178W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0253318857564	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758966256	2.736e-06	2.736e-06	4.084e-06	1.375e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	1.74	0.26301	T	-6.2	0.90371	D	0.553	0.57860	-0.8961	0.48380	T	0.141	0.46110	T	10	0.47647715	0.60173	T	0.025332	0.48303	D	0.248	0.55615	0.267	0.21418	0.584212540733	0.58094	0.8106831030756697	0.81023	1.1607949559	0.79478	0.709445595741	0.68513	T	0.300498	0.67298	T	0.0310162	0.55858	T	-0.0963697	0.63678	T	0.994936466217041	0.86546	D	0.949705	0.80662	D	0.5844696	0.71851	0.5578345	0.74422	0.5844696	0.71853	0.5578345	0.74422	-11.467	0.82157	D	.	.	0.478	0.63557	A	.	.	4.978622	0.82446	27.8	0.99923225009247685	0.98917	0.92280	0.55349	D	AEFBCI	0.665731	0.63444	D	0.563223406933371	0.70892	5.56859	0.519573769777017	0.69307	5.341886	0.810163962873559	0.24341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.05	0.34272	4.504000	0.60135	5.027000	0.46794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.5937:0.4063	13.359	0.60088	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1419.33	34	chr1	20501217	.	G	A	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=770;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.473;SOR=0.836	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1433,0,1583	18	0	1	0
chr1	21875662	21875662	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon25:c.G3272A:p.R1091Q,HSPG2:NM_005529:exon25:c.G3269A:p.R1090Q	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1515	6	1	0	8	0.00263331	.	.	.	193044	not_provided|Schwartz-Jampel_syndrome|not_specified|Lethal_Kniest-like_syndrome	MedGen:C3661900|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:CN169374|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.113	0.0158915680689	0.0052	0.00199681	0.0053	0.0011	0.0011	0	0.0067	0.0081	0.0011	0.0022	0.0052975	819	154602	rs78889849	0.0060	0.0060	0.0060	0.0060	0.0070	0.0059	0.0059	0.0069	0.0068	0.0009	0.0020	0.0002	2.519e-05	0.0066	0.0012	0.0070	0.0047	0.0028	0.0036	0.0036	0.0038	0.0034	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0024	0	0	0.0044	0	0.0060	0.0028	0.0027	0.625	0.05229	T	0.267	0.22561	T	0.018	0.17786	B	0.021	0.19346	B	0.268642	0.15171	N	0.489268	0.545246	0.31379	N	1.41	0.35535	L	0.8	0.48769	T	-0.98	0.25986	N	0.081	0.05670	-0.9605	0.39087	T	0.074	0.29960	T	10	0.010121584	0.00226	T	0.015892	0.36869	T	0.113	0.31778	.	.	0.436455679973	0.43264	0.45333340696246427	0.45251	0.266359743726	0.29174	0.195402473211	0.00336	T	0.244806	0.61399	T	-0.578595	0.00197	T	-0.599743	0.12834	T	0.00450310987741049	0.00048	T	0.788921	0.42853	T	0.034626283	0.03922	0.042011015	0.04908	0.034626283	0.03921	0.042011015	0.04907	-5.815	0.44705	T	.	.	0.063	0.01408	B	.	.	0.555240	0.09238	6.020	0.87321564820646069	0.17144	0.69656	0.34274	D	AEFDBCI	0.169317	0.29614	N	-0.776255305198309	0.13930	0.6899439	-0.727751589620586	0.16272	0.8599625	0.952590311988808	0.28025	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	-0.511	0.11372	1.538000	0.35700	-1.277000	0.05837	-0.182000	0.10109	0.839000	0.30269	0.000000	0.08366	0.196000	0.21779	0.0:0.7105:0.0:0.2895	10.140	0.41905	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	924.33	38	chr1	21875662	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=754;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.685;SOR=0.976	GT:AD:DP:GQ:PL	0/1:41,32:73:99:938,0,1053	18	0	1	0
chr1	23441433	23441433	T	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon8:c.A761G:p.Q254R,ASAP3:NM_017707:exon9:c.A788G:p.Q263R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.00586303517152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.21634	T	0.117	0.36365	T	0.001	0.11197	B	0.002	0.12133	B	0.000357	0.45440	D	0.146397	0.998803	0.45475	D	1.21	0.30464	L	3.63	0.04353	T	-2.17	0.49018	N	0.127	0.14054	-0.9999	0.29945	T	0.015	0.06234	T	10	0.14072686	0.26747	T	0.005863	0.15251	T	0.181	0.45247	0.262	0.20631	0.146414634003	0.14194	0.6513730285972331	0.65073	0.243182083303	0.26821	0.440819859505	0.30689	T	0.043199	0.26427	T	-0.0490978	0.44585	T	-0.308302	0.43840	T	0.766618669033051	0.44238	D	.	.	.	0.071693525	0.15893	0.14197372	0.33792	0.071693525	0.15892	0.14197372	0.33791	-6.481	0.50140	T	.	.	0.073	0.04847	B	.;.	.;.	2.754019	0.36104	20.2	0.98912604283524552	0.48399	0.97064	0.72480	D	AEFBI	0.648439	0.62326	D	-0.0677733229754846	0.38811	2.279007	0.0919159330422032	0.44140	2.70165	0.999283059365029	0.39007	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.58	4.58	0.56077	4.424000	0.59617	3.948000	0.40653	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.0:1.0	11.782	0.51292	355	0.85216	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	572.33	45	chr1	23441433	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.361;DP=779;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.716;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,23:57:99:586,0,1023	18	0	1	0
chr1	23810738	23810738	C	G	exonic	HMGCL	.	nonsynonymous SNV	HMGCL:NM_000191:exon6:c.G559C:p.E187Q	HMG-CoA lyase deficiency, Autosomal recessive	0	1520	1	1	0	3	0.000985869	0.9244	0.63	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.142941288825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.20532	T	0.192	0.28300	T	0.004	0.12183	B	0.031	0.21939	B	0.000009	0.62929	D	0.109645	1	0.81001	D	1.41	0.35535	L	-4.92	0.98371	D	-0.67	0.19297	N	0.386	0.42737	0.871	0.95289	D	0.908	0.96949	D	10	0.3840082	0.54405	T	0.142941	0.82529	D	0.518	0.79461	0.555	0.67271	0.932400548661	0.93170	0.7464676676905063	0.74592	0.109243230872	0.12323	0.4586135149	0.33120	T	0.790132	0.94539	D	0.194947	0.73420	D	0.0422511	0.73074	D	0.727002203464508	0.42055	D	0.935306	0.75759	D	0.4195958	0.62065	0.33352268	0.59188	0.4195958	0.62065	0.33352268	0.59187	-5.812	0.44679	T	0.1535222135857626	0.18268	0.109	0.20857	B	.	.	3.820849	0.55171	23.6	0.99327924520772437	0.59661	0.83055	0.42206	D	AEFGBCI	0.793669	0.72160	D	0.0442622293223329	0.43878	2.672317	0.19905742362822	0.49796	3.178571	0.999999999843677	0.74766	0.712529	0.81865	0	0.26897	0.04874	2	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.35	5.35	0.76297	2.274000	0.43049	5.857000	0.50394	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.657	0.91416	520	0.74355	Pyruvate carboxyltransferase|Pyruvate carboxyltransferase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1168.33	33	chr1	23810738	.	C	G	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.544;DP=712;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.64;SOR=0.506	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1182,0,1198	18	0	1	0
chr1	25301582	25301582	G	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001127691:exon5:c.G697C:p.E233Q,RHD:NM_001282867:exon5:c.G199C:p.E67Q,RHD:NM_001282868:exon5:c.G697C:p.E233Q,RHD:NM_001282869:exon5:c.G697C:p.E233Q,RHD:NM_001282870:exon5:c.G697C:p.E233Q,RHD:NM_001282871:exon5:c.G697C:p.E233Q,RHD:NM_001282872:exon5:c.G697C:p.E233Q,RHD:NM_016124:exon5:c.G697C:p.E233Q	.	520	1000	2	0	0	2	0.000999001	.	.	.	204995	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.049	.	0.0044	0.071885	0.0017	0.0165	0.0010	0.0001	0.0003	8.834e-05	0	0.0003	0.0046442	718	154602	rs1053359	0.0005	0.0006	0.0006	0.0004	0.0135	0.0005	0.0005	0.0124	0.0120	0.0135	0.0016	0	0.0003	0	0.0010	4.333e-05	0.0015	7.45e-05	0.0043	0.0052	0.0045	0.0041	0.0137	0.0040	0.0039	0.0127	0.0123	0.0137	0	0.0023	0	0.0008	0	0	7.145e-05	0.0016	0.0005	0.205	0.20154	T	0.195	0.28032	T	0.062	0.77913	B	0.281	0.88582	B	0.660235	0.10434	N	0.859558	1	0.08975	N	1.5	0.37844	L	1.95	0.22474	T	-1.68	0.40082	N	0.263	0.34120	-1.0605	0.11632	T	0.004	0.01226	T	10	0.004635632	0.00097	T	.	.	.	0.049	0.13647	.	.	0.107399877778	0.10242	0.28830555766175875	0.28743	0.198620745402	0.22241	0.420844733715	0.27952	T	0.003234	0.02636	T	-0.571155	0.00218	T	-0.580877	0.14466	T	0.00831160482685251	0.00100	T	0.724828	0.33863	T	0.13702348	0.31743	0.08801503	0.20495	0.12909038	0.30160	0.092419095	0.21779	-5.006	0.39685	T	0.4028133306081099	0.49435	0.09	0.26762	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.629407	0.20803	14.92	0.88729452986511348	0.18208	0.15426	0.18906	N	AEFGBI	0.222883	0.34731	N	-0.584269614534565	0.19422	1.016364	-0.651315912296865	0.18184	0.9702479	0.00733175581229321	0.11441	0.554377	0.28877	0	0.588066	0.40923	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	2.9	2.9	0.32809	0.858000	0.27500	2.404000	0.32608	0.325000	0.19437	0.017000	0.19353	0.922000	0.28345	0.084000	0.17470	0.0:0.0:1.0:0.0	9.111	0.35889	846	0.36215	Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	chr1:25628073	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	0	0	0.003735	0.010753	0.004237	0.003289	0.000000	0.000000	0.000000	0.000000	0.02941	252.13	36	chr1	25301582	.	G	C	252.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.53;DP=818;ExcessHet=0;FS=8.969;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=54.49;MQRankSum=-5.507;QD=1;ReadPosRankSum=-1.321;SOR=1.453	GT:AD:DP:GQ:PL	0/1:219,32:251:99:265,0,5596	16	0	1	2
chr1	25306681	25306681	T	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon7:c.T527C:p.I176T,RHD:NM_001282869:exon7:c.T1025C:p.I342T,RHD:NM_001282870:exon7:c.T1025C:p.I342T,RHD:NM_001282871:exon7:c.T1025C:p.I342T,RHD:NM_001282872:exon7:c.T1025C:p.I342T,RHD:NM_016124:exon7:c.T1025C:p.I342T	.	511	1009	2	0	0	2	0.000990099	.	.	.	198600	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.005	0.001248172493	0.0020	0.00119808	0.0006	0.0060	0.0004	0	0	1.767e-05	0	0	0.0001153	3	26028	rs138235491	0.0003	0.0003	0.0004	0.0003	0.0091	0.0003	0.0003	0.0082	0.0079	0.0091	0.0009	0	0	0	0.0010	2.166e-05	0.0010	0.0002	0.0022	0.0023	0.0022	0.0022	0.0071	0.0020	0.0019	0.0064	0.0061	0.0071	0	0.0010	0	0	0	0	1.798e-05	0.0006	0.0002	1.0	0.10945	T	0.501	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.232003	0.15900	N	0.673356	1	0.08975	N	-1.2	0.00838	N	1.97	0.22067	T	1.17	0.02297	N	0.158	0.17416	-0.9824	0.34445	T	0.003	0.00864	T	10	0.005736381	0.00128	T	0.001248	0.01683	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.19556217122171632	0.19473	0.108913365642	0.12281	0.288580775261	0.08716	T	0.002617	0.02004	T	-0.508	0.00515	T	-0.761978	0.03042	T	0.00142547449042624	0.00014	T	0.442056	0.14032	T	0.018914966	0.00415	0.048120636	0.07080	0.02382468	0.01155	0.049260736	0.07489	-2.555	0.19732	T	0.06363026936898165	0.01969	0.069	0.13409	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.595988	0.01583	0.106	0.40456982515304901	0.02856	0.00080	0.00545	N	AEFGBI	0.054965	0.10039	N	-1.78885232172401	0.00573	0.02467995	-1.79808799506327	0.00765	0.0341294	6.91524004528068E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.48	-2.18	0.06643	-1.308000	0.02839	-1.121000	0.06268	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4095:0.0:0.5905	6.445	0.21071	878	0.29785	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	rs138235491	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004777	0.000000	0.009859	0.000000	0.000000	0.000000	0.000000	0.000000	0.02941	2216.13	33	chr1	25306681	.	T	C	2216.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.141;DP=710;ExcessHet=0;FS=3.774;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=3.09;SOR=0.452	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2229,0,1757	16	0	1	2
chr1	25388999	25388999	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_138617:exon4:c.A601G:p.I201V,RHCE:NM_001330430:exon6:c.A916G:p.I306V,RHCE:NM_020485:exon6:c.A916G:p.I306V,RHCE:NM_138618:exon6:c.A916G:p.I306V	Rh-null disease, amorph type (3)	419	1100	3	0	0	3	0.00136178	.	.	.	707283	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00633095839507	0.0008	.	0.0005	0.0041	0.0008	0	0	0.0001	0	0.0001	0.0001921	5	26028	rs1132765	0.0003	0.0003	0.0003	0.0002	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0011	0	2.519e-05	1.872e-05	0.0005	8.813e-05	0.0007	0.0001	0.0018	0.0018	0.0017	0.0019	0.0056	0.0016	0.0016	0.0050	0.0048	0.0056	0	0.0020	0	0	0	0	0.0002	0.0005	0.0002	0.717	0.03961	T	1.0	0.04703	T	0.074	0.24142	B	0.047	0.24832	B	0.068270	0.21684	N	0.523749	0.998036	0.44438	D	.	.	.	2.05	0.20664	T	-0.21	0.10308	N	0.144	0.19593	-1.0345	0.19014	T	0.022	0.09467	T	10	0.005934	0.00133	T	0.006331	0.16639	T	0.046	0.12618	.	.	0.110392049598	0.10638	0.06811926200585638	0.06749	0.25259744787	0.27827	0.255571097136	0.04377	T	.	.	.	-0.582558	0.00186	T	-0.605575	0.12347	T	0.00542456866298858	0.00059	T	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.07697	B	.;.;.;.;.	.;.;.;.;.	0.500888	0.08699	5.472	0.65236316053382504	0.07716	0.07117	0.13143	N	AEFDGI	0.095052	0.19211	N	-0.822561852315411	0.12735	0.6226619	-0.690753749101257	0.17191	0.9129963	7.32118626142012E-5	0.04552	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.48	0.29194	-0.292000	0.08368	-0.169000	0.11245	0.602000	0.45918	0.009000	0.18154	0.001000	0.17328	0.972000	0.54974	0.0:0.1982:0.0:0.8018	7.030	0.24139	892	0.26670	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1681.33	37	chr1	25388999	.	T	C	1681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=822;ExcessHet=0;FS=1.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-2.858;QD=9.83;ReadPosRankSum=-0.114;SOR=0.802	GT:AD:DP:GQ:PL	0/1:98,73:171:99:1695,0,2336	18	0	1	0
chr1	25390838	25390838	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon5:c.A712G:p.M238V,RHCE:NM_020485:exon5:c.A712G:p.M238V,RHCE:NM_138618:exon5:c.A712G:p.M238V	Rh-null disease, amorph type (3)	425	1094	3	0	0	3	0.00136924	.	.	.	707284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0032	0.00419329	0.0013	0.0130	0.0003	0	0	8.99e-05	0.0011	0.0010	0.0012419	192	154602	rs144163296	0.0005	0.0005	0.0005	0.0004	0.0121	0.0004	0.0004	0.0112	0.0108	0.0121	0.0008	3.826e-05	7.557e-05	0	0.0007	6.475e-05	0.0012	0.0010	0.0032	0.0033	0.0033	0.0031	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0011	0	0	0	0	8.819e-05	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.345513	0.13897	N	0.698537	1	0.22000	N	.	.	.	2.05	0.20664	T	1.76	0.00621	N	0.081	0.05799	-0.9914	0.32244	T	0.004	0.01400	T	10	0.005721599	0.00127	T	.	.	.	0.057	0.16321	.	.	0.151262610727	0.14761	0.1613172027514637	0.16052	0.301826712616	0.32518	0.35189974308	0.18201	T	.	.	.	-0.675839	0.00051	T	-0.734178	0.04141	T	0.00425271534305615	0.00045	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-1.503463	0.00293	0.005	0.30420393131976675	0.01663	0.00233	0.01302	N	AEFDGI	0.075218	0.15099	N	-2.07399304070336	0.00146	0.006251161	-1.99267885322195	0.00317	0.01401101	8.6322821071111E-5	0.04703	0.549168	0.22868	0	0.610034	0.51514	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	4.08	-4.0	0.03787	-0.968000	0.03928	-2.682000	0.03472	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2612:0.214:0.0:0.5248	4.862	0.12947	885	0.28214	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1664.33	33	chr1	25390838	.	T	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.583;DP=870;ExcessHet=0;FS=6.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.61;MQRankSum=-12.96;QD=9.4;ReadPosRankSum=-1.146;SOR=1.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,57:177:99:0|1:25390817_G_C:1678,0,4677:25390817	18	0	1	0
chr1	25835733	25835733	G	T	exonic	AUNIP	.	nonsynonymous SNV	AUNIP:NM_001287490:exon3:c.C334A:p.H112N,AUNIP:NM_024037:exon3:c.C334A:p.H112N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407377043679	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758460528	4.104e-06	4.104e-06	2.722e-06	5.5e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.10623	T	0.234	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.606555	0.05677	N	1.250000	1	0.08975	N	0.345	0.11182	N	1.1	0.39050	T	1.26	0.00998	N	0.142	0.14196	-1.0239	0.22443	T	0.053	0.22539	T	10	0.05476144	0.05881	T	0.004074	0.09712	T	0.015	0.02232	0.151	0.05441	0.287603790349	0.28378	0.06393654439521239	0.06332	0.136314018821	0.15377	0.262248694897	0.05161	T	0.004827	0.04249	T	-0.50619	0.00528	T	-0.762229	0.03033	T	0.0218362847797546	0.00890	T	0.282272	0.04954	T	0.02263836	0.00941	0.025627105	0.00614	0.02263836	0.00941	0.025627105	0.00614	-2.816	0.08332	T	.	.	0.059	0.00730	B	.;.	.;.	-0.169298	0.03249	0.550	0.46087700755687699	0.03665	0.01663	0.05329	N	AEFDBI	0.050719	0.08891	N	-1.24596080449413	0.04353	0.1963016	-1.21494351107785	0.05670	0.2707773	0.970323026684241	0.29199	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.96	0.25203	-0.278000	0.08523	0.705000	0.20878	-0.318000	0.05900	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5981:0.1968:0.2052	4.522	0.11372	705	0.57330	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1718.33	35	chr1	25835733	.	G	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=829;ExcessHet=0;FS=2.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.363;SOR=0.921	GT:AD:DP:GQ:PL	0/1:108,70:178:99:1732,0,2880	18	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,27:55:99:1|0:26282323_A_G:2219,1109,1043:26282323	9	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,27:59:99:1|0:26282323_A_G:1025,0,1199:26282323	8	0	8	3
chr1	26773690	26773690	-	GCA	exonic	ARID1A	.	nonframeshift insertion	ARID1A:NM_006015:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ,ARID1A:NM_139135:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ	Coffin-Siris syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	237025	not_provided|Intellectual_disability,_autosomal_dominant_14|not_specified	MedGen:C3661900|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0024	0.0017	0.0039	0.0002	0.0015	0.0056	0.0183	0.0006531	17	26028	rs570962335	0.0028	0.0028	0.0023	0.0033	0.0181	0.0027	0.0027	0.0174	0.0171	0.0026	0.0014	0	0.0023	0.0004	0.0023	0.0018	0.0039	0.0181	0.0025	0.0026	0.0023	0.0028	0.0181	0.0023	0.0023	0.0150	0.0139	0.0033	0	0.0012	0	0.0044	0	0	0.0017	0.0029	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1965.29	36	chr1	26773690	.	C	CGCA	1965.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=809;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.229;SOR=0.936	GT:AD:DP:GQ:PL	0/1:69,53:124:99:1979,0,2707	18	0	1	0
chr1	37997843	37997843	G	A	exonic	FHL3	.	nonsynonymous SNV	FHL3:NM_001243878:exon4:c.C205T:p.R69C,FHL3:NM_004468:exon5:c.C529T:p.R177C	.	.	.	.	.	.	.	.	.	.	.	3669495	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.781	0.254358850376	.	.	4.946e-05	9.617e-05	0	0	0	4.499e-05	0.0011	6.061e-05	3.88e-05	6	154602	rs746206991	2.942e-05	2.941e-05	2.995e-05	2.888e-05	0.0002	2.217e-05	1.97e-05	2.54e-05	2.224e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.418e-05	1.656e-05	1.159e-05	7.231e-05	7.224e-05	7.711e-05	6.728e-05	0.0001	3.973e-05	3.129e-05	6.287e-05	4.302e-05	0.0001	0	0	0	0	0	0	5.88e-05	0.0005	0	0.11	0.29158	T	0.034	0.52727	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.29	0.32370	L	-2.33	0.87910	D	-5.73	0.87611	D	0.828	0.82358	0.541	0.91115	D	0.757	0.91713	D	10	0.8838726	0.87707	D	0.254359	0.89248	D	0.781	0.92705	0.641	0.77795	0.886106578519	0.88498	0.7309389947855427	0.73038	1.22561102355	0.81198	0.799701333046	0.81917	T	0.468357	0.80232	T	0.255973	0.79158	D	0.321593	0.89159	D	0.636680364608765	0.37897	D	0.994076	0.98035	D	0.5025392	0.67244	0.441441	0.67428	0.5025392	0.67245	0.441441	0.67428	-8.976	0.67542	D	.	.	0.318	0.54346	B	.	.	6.020609	0.94361	34	0.99935012660891231	0.99579	0.97165	0.73072	D	AEFBCI	0.770696	0.70556	D	0.604145252968907	0.73436	5.965861	0.587958210580484	0.74074	6.075817	1.0	0.98316	0.722319	0.85440	0	0.709663	0.81188	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	5.423000	0.66197	11.893000	0.99147	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.679	0.91501	426	0.81110	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1984.33	45	chr1	37997843	.	G	A	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=941;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.714;SOR=0.563	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1998,0,2093	18	0	1	0
chr1	42766646	42766646	A	C	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.T326G:p.F109C,P3H1:NM_001243246:exon1:c.T326G:p.F109C,P3H1:NM_022356:exon1:c.T326G:p.F109C	Osteogenesis imperfecta, type VIII, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	448080	Osteogenesis_imperfecta_type_8	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.431215419546	.	.	2.36e-05	0	0.0003	0	0	0	0	0	1.29e-05	2	154602	rs761389160	2.035e-05	2.052e-05	1.529e-05	2.552e-05	0.0002	1.428e-05	1.234e-05	1.639e-05	9.67e-06	6.171e-05	5.047e-05	0	2.649e-05	0	0.0002	1.737e-05	0	4.878e-05	3.285e-05	3.282e-05	1.286e-05	5.375e-05	7.223e-05	1.261e-05	7.98e-06	1.915e-05	1.031e-05	7.223e-05	0	0	0	0	0	0	2.942e-05	0	0	0.001	0.78490	D	0.006	0.74150	D	1.0	0.90584	D	0.964	0.79672	D	0.000000	0.84330	D	0.000000	0.999838	0.49637	D	2.86	0.83026	M	0.7	0.51474	T	-4.27	0.77470	D	0.778	0.80964	-0.6231	0.63860	T	0.247	0.61577	T	10	0.5406082	0.63697	D	0.431215	0.93985	D	0.246	0.55340	0.266	0.21261	0.51093147181	0.50733	0.7395556963016482	0.73900	2.54765427674	0.97855	0.911887586117	0.97646	D	0.576041	0.86041	D	-0.00638598	0.50770	T	-0.0212477	0.68947	D	0.911434888839722	0.56700	D	0.771423	0.40183	T	0.7789699	0.82591	0.7445749	0.84902	0.7789699	0.82592	0.7445749	0.84903	-9.376	0.70085	D	0.6872507370443766	0.76448	0.728	0.77955	P	.;.;.;.	.;.;.;.	4.905840	0.80670	27.4	0.98900478921328439	0.48181	0.74017	0.36204	D	AEFDBHCIJ	0.736939	0.68229	D	0.518006153048878	0.68155	5.178424	0.458135851423687	0.65242	4.798984	0.999999999932537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.14	4.14	0.47821	3.419000	0.52486	10.860000	0.83972	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	9.484	0.38082	507	0.75469	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1039.33	37	chr1	42766646	.	A	C	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.231;SOR=0.697	GT:AD:DP:GQ:PL	0/1:30,35:65:99:1053,0,888	18	0	1	0
chr1	43553493	43553493	C	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329139:exon4:c.C93G:p.S31R,PTPRF:NM_001329140:exon4:c.C93G:p.S31R,PTPRF:NM_002840:exon4:c.C93G:p.S31R,PTPRF:NM_130440:exon4:c.C93G:p.S31R,PTPRF:NM_001329137:exon5:c.C93G:p.S31R,PTPRF:NM_001329138:exon5:c.C93G:p.S31R	.	.	.	.	.	.	.	.	0.9465	0.688	.	2436815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0205941089864	.	.	8.284e-06	0	0	0	0	0	0	6.24e-05	6.5e-06	1	154602	rs763748777	7.527e-06	7.525e-06	4.085e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	1.799e-06	3.313e-05	3.48e-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	0.011	0.56456	D	0.027	0.55341	D	0.187	0.45919	B	0.034	0.44317	B	0.001000	0.40743	D	0.000000	1	0.81001	D	0	0.06538	N	0.4	0.60854	T	-1.51	0.49187	N	0.69	0.73375	-1.0102	0.26854	T	0.119	0.41626	T	10	0.21609184	0.38181	T	0.020594	0.43215	T	0.156	0.40720	0.374	0.38667	0.609891544157	0.60675	0.5719321171728848	0.57121	0.835685596605	0.67809	0.590739250183	0.51598	T	0.127153	0.45399	T	-0.0406142	0.45858	T	-0.195486	0.55074	T	0.471415996551514	0.31583	T	0.867413	0.56927	D	0.27107322	0.50178	0.11590745	0.27980	0.27107322	0.50178	0.11590745	0.27979	-5.84	0.44921	T	.	.	0.581	0.68326	P	.;.;.;.	.;.;.;.	3.592489	0.50700	23.0	0.99329178104743376	0.59700	0.90627	0.51960	D	AEFBI	0.450269	0.50474	N	0.0442908251464022	0.43881	2.672425	0.158604963444096	0.47599	2.98779	0.999997154046536	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.89	3.95	0.44952	0.989000	0.29229	2.086000	0.30521	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.8461:0.0:0.1539	10.631	0.44727	693	0.58582	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1364.33	35	chr1	43553493	.	C	G	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.287;DP=755;ExcessHet=0;FS=4.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.37;SOR=0.413	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1378,0,1798	18	0	1	0
chr1	43619355	43619355	A	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329140:exon25:c.A3802G:p.K1268E,PTPRF:NM_001329139:exon27:c.A3862G:p.K1288E,PTPRF:NM_130440:exon27:c.A4687G:p.K1563E,PTPRF:NM_002840:exon28:c.A4714G:p.K1572E,PTPRF:NM_001329137:exon29:c.A3880G:p.K1294E,PTPRF:NM_001329138:exon31:c.A3904G:p.K1302E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.070024322945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430627272	4.105e-06	4.104e-06	5.446e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	2.698e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.187	0.28764	T	0.995	0.67487	D	0.989	0.78396	D	0.002868	0.35804	N	0.000000	1	0.81001	D	0.41	0.12415	N	-1.69	0.82985	D	-2.98	0.70191	D	0.687	0.69300	0.173	0.85456	D	0.560	0.83984	D	10	0.68265337	0.71373	D	0.070024	0.70890	D	0.633	0.85924	0.491	0.57732	0.902627383259	0.90165	0.6410243853897807	0.64037	0.678797325754	0.59904	0.877725124359	0.93652	D	0.595722	0.86969	D	0.327634	0.85005	D	0.232847	0.84808	D	0.589060134654716	0.35969	D	0.955004	0.82846	D	0.5271415	0.68668	0.44489104	0.67655	0.5271415	0.68669	0.44489104	0.67656	-13.005	0.89385	D	.	.	0.326	0.60566	B	.;.;.	.;.;.	4.885147	0.80157	27.3	0.99506151219169925	0.68322	0.92002	0.54728	D	AEFDGBHCI	0.893046	0.83061	D	0.196487420777859	0.51032	3.287659	0.322905883612688	0.56888	3.852968	0.999996081064246	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	6.157000	0.71647	11.306000	0.92372	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.459	0.75064	601	0.67921	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2254.33	42	chr1	43619355	.	A	G	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.851;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.252;SOR=0.656	GT:AD:DP:GQ:PL	0/1:108,94:202:99:2268,0,3068	18	0	1	0
chr1	45457692	45457692	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G94A:p.V32M	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0239106135479	0.0025	0.00219649	0.0039	0.0012	0.0031	0	0.0014	0.0047	0.0022	0.0059	0.0037063	573	154602	rs139535559	0.0040	0.0040	0.0040	0.0041	0.0063	0.0040	0.0039	0.0059	0.0057	0.0005	0.0021	0.0069	2.519e-05	0.0013	0.0029	0.0043	0.0036	0.0063	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0054	0.0047	0.0008	0.0011	0.0016	0.0049	0	0.0005	0.0034	0.0042	0.0033	0.0072	0.242	0.18691	T	0.156	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.641495	0.05871	N	1.180580	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	-0.14	0.09135	N	0.113	0.12913	-0.9314	0.43933	T	0.177	0.52256	T	10	0.0035657287	0.00064	T	0.023911	0.46889	T	0.037	0.09474	.	.	0.401185642668	0.39728	0.2119062408482869	0.21106	0.199440583256	0.22341	0.291976153851	0.09211	T	0.009183	0.08373	T	-0.545465	0.00310	T	-0.553687	0.16974	T	0.00435145716154146	0.00046	T	0.658334	0.26756	T	0.02780432	0.02024	0.058193475	0.10713	0.02780432	0.02024	0.058193475	0.10712	-4.992	0.36753	T	.	.	0.089	0.12276	B	.;.	.;.	-0.002648	0.04265	1.060	0.90670885882896302	0.19922	0.01462	0.04886	N	AEFI	0.047805	0.08090	N	-1.55302367145856	0.01517	0.06624543	-1.63442238318577	0.01458	0.06597184	0.0181758768570301	0.13029	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.06	-7.33	0.01284	-0.403000	0.07275	-2.453000	0.03735	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.458000	0.28074	0.0:0.606:0.0906:0.3035	11.904	0.51982	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1676.33	35	chr1	45457692	.	C	T	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.652;DP=768;ExcessHet=0;FS=2.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.033;SOR=0.905	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1690,0,1716	18	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	119.19	186	chr1	46613215	.	G	C	119.19	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.95;DP=2309;ExcessHet=0.119;FS=110.979;InbreedingCoeff=-0.2116;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.01;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,21:133:77:.:.:77,0,2939:.	8	0	2	9
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:7:99:1|0:50419101_CCGGCGG_C:654,134,113:50419101	11	0	8	0
chr1	62274857	62274857	G	A	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_181712:exon3:c.C247T:p.P83S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0198995489696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.01387	B	0.412902	0.12972	N	0.635267	0.972587	0.38957	D	-0.69	0.01958	N	-0.86	0.74477	T	0.26	0.04380	N	0.024	0.00445	-1.0019	0.29372	T	0.125	0.43028	T	10	0.054347456	0.05771	T	0.020	0.42377	T	0.112	0.31546	0.179	0.08626	0.213573922156	0.20996	0.2601371270036132	0.25927	0.0955675534175	0.10794	0.276101201773	0.06955	T	0.002252	0.01652	T	-0.258951	0.13022	T	-0.609742	0.12006	T	0.0390561670064926	0.03520	T	0.453455	0.12891	T	0.017649671	0.00290	0.033853203	0.02351	0.017649671	0.00290	0.033853203	0.02350	-3.959	0.23188	T	.	.	0.077	0.06479	B	.	.	0.320698	0.06954	3.500	0.50718355005808513	0.04434	0.04963	0.10728	N	AEFDBI	0.144235	0.26714	N	-1.23885099422493	0.04448	0.2007806	-1.13133644564877	0.07107	0.3445062	0.0524362261514598	0.14906	0.490419	0.18000	1	0.547309	0.14657	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	5.13	3.24	0.36257	1.083000	0.30427	5.608000	0.49046	-0.733000	0.03713	0.001000	0.13787	0.990000	0.31317	0.001000	0.02609	0.2339:0.0:0.7661:0.0	8.750	0.33771	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	45	chr1	62274857	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=860;ExcessHet=0;FS=4.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.252;SOR=0.349	GT:AD:DP:GQ:PL	0/1:66,45:111:99:1151,0,1873	18	0	1	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.09	42	chr1	77935995	.	G	A	184.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=725;ExcessHet=0.7564;FS=181.459;InbreedingCoeff=-0.1272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=0.411;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,7:46:80:.:.:113,0,1215:.	17	0	2	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	872.8	78	chr1	85158755	.	A	G	872.8	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.11;DP=1169;ExcessHet=0.7564;FS=87.916;InbreedingCoeff=-0.1339;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=0.078;SOR=8.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,18:75:99:0|1:85158755_A_G:208,0,1379:85158755	14	0	4	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,18:67:99:.:.:253,0,1329:.	4	0	11	4
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D,MTF2:NM_001164392:exon14:c.G1391A:p.G464D,MTF2:NM_007358:exon15:c.G1562A:p.G521D,MTF2:NM_001164391:exon16:c.G1256A:p.G419D	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1641.33	40	chr1	93136807	.	G	A	1641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=873;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.346;SOR=0.917	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1655,0,1828	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,35:128:99:0|1:99884396_T_C:457,0,2203:99884396	4	0	15	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	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	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,16:102:92:.:.:92,0,1483:.	5	0	14	0
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	866.45	122	chr1	113590588	.	G	A	866.45	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.148;DP=1366;ExcessHet=0.119;FS=251.524;InbreedingCoeff=-0.0872;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,24:98:99:0|1:113590588_G_A:330,0,2487:113590588	16	0	1	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2186.94	114	chr1	113590590	.	G	C	2186.94	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.133;DP=1393;ExcessHet=0.7564;FS=347.698;InbreedingCoeff=-0.3104;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.845;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,37:96:99:0|1:113590588_G_A:711,0,1226:113590588	5	0	4	10
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:117,42:176:95:95,0,1578	3	0	16	0
chr1	145671257	145671257	A	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001371359:exon9:c.T1514C:p.I505T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	1.712e-05	1.906e-05	1.388e-05	2.088e-05	1.006e-05	8.23e-06	1.272e-05	1.04e-05	0	0	0	0	0	0	2.088e-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	.	.	.	.	.	.	.	.	0.02632	117.35	16	chr1	145671257	.	A	G	117.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=-0.0285;MLEAC=1;MLEAF=0.026;MQ=53.19;MQRankSum=-1.068;QD=14.67;ReadPosRankSum=1.72;SOR=1.981	GT:AD:DP:GQ:PL	0/1:4,4:8:99:131,0,109	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,28:108:99:0|1:145872713_C_G:172,0,2255:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,28:108:99:0|1:145872713_C_G:172,0,2255:145872713	9	0	10	0
chr1	146067279	146067279	T	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.A10538G:p.K3513R,NBPF10:NM_001302371:exon89:c.A11045G:p.K3682R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000154795594138	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs587646237	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0005	0.0007	0.0007	0	0.0005	0	0	7.262e-05	0.0015	0.0008	0.0010	3.694e-05	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.23506	.	.	.	.	.	.	.	0.10539436	0.19478	T	.	.	.	.	.	.	.	.	.	0.0029646558413299207	0.00276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785921	0.53551	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.37783	B	.;.	.;.	1.076020	0.14584	11.15	.	.	.	.	.	.	0.036342	0.04828	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-0.469000	0.08990	.	.	0.059000	0.21734	0.000000	0.08366	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	259.33	35	chr1	146067279	.	T	C	259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.207;DP=377;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=38.38;MQRankSum=-0.156;QD=8.64;ReadPosRankSum=0.237;SOR=1.65	GT:AD:DP:GQ:PL	0/1:19,11:30:99:273,0,553	18	0	1	0
chr1	147286377	147286377	G	A	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256338:exon12:c.G1486A:p.G496R,CHD1L:NM_001256337:exon13:c.G1255A:p.G419R,CHD1L:NM_001348454:exon13:c.G1642A:p.G548R,CHD1L:NM_001348456:exon13:c.G1255A:p.G419R,CHD1L:NM_001348463:exon14:c.G1255A:p.G419R,CHD1L:NM_001348466:exon14:c.G1255A:p.G419R,CHD1L:NM_001348459:exon16:c.G1255A:p.G419R,CHD1L:NM_001348461:exon16:c.G1255A:p.G419R,CHD1L:NM_001348464:exon16:c.G1255A:p.G419R,CHD1L:NM_001256336:exon17:c.G1798A:p.G600R,CHD1L:NM_001348453:exon17:c.G1759A:p.G587R,CHD1L:NM_001348455:exon17:c.G1609A:p.G537R,CHD1L:NM_001348457:exon17:c.G1255A:p.G419R,CHD1L:NM_001348458:exon17:c.G1255A:p.G419R,CHD1L:NM_001348460:exon17:c.G1255A:p.G419R,CHD1L:NM_001348465:exon17:c.G1255A:p.G419R,CHD1L:NM_001348452:exon18:c.G1882A:p.G628R,CHD1L:NM_001348462:exon18:c.G1255A:p.G419R,CHD1L:NM_004284:exon18:c.G2098A:p.G700R,CHD1L:NM_024568:exon18:c.G1759A:p.G587R,CHD1L:NM_001348451:exon19:c.G1882A:p.G628R	.	419	1084	19	0	0	19	0.0086877	.	.	.	1590350	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.011686048466	0.0037	0.00199681	0.0044	0.0004	0.0014	0	0.0015	0.0057	0.0033	0.0069	0.0042432	656	154602	rs139791996	0.0043	0.0043	0.0043	0.0043	0.0057	0.0042	0.0042	0.0053	0.0051	0.0005	0.0029	0.0038	0	0.0016	0.0052	0.0047	0.0036	0.0057	0.0030	0.0030	0.0034	0.0026	0.0051	0.0028	0.0027	0.0047	0.0045	0.0007	0.0022	0.0020	0.0046	0.0002	0.0007	0.0034	0.0051	0.0028	0.0029	0.449	0.10517	T	0.487	0.19599	T	0.001	0.12183	B	0.001	0.12133	B	0.026997	0.25829	N	0.426470	0.999999	0.08975	N	1.295	0.32453	L	-1.42	0.87830	T	-1.02	0.33197	N	0.188	0.26111	-0.8328	0.53120	T	0.278	0.64936	T	10	0.00616017	0.00139	T	0.011686	0.29566	T	0.105	0.29889	0.144	0.04746	0.663445045466	0.66061	0.34576495108129196	0.34490	0.0434466765119	0.04681	0.270171433687	0.06163	T	0.020674	0.16233	T	-0.402149	0.02242	T	-0.345309	0.39742	T	0.00937878860399335	0.00120	T	0.534647	0.17878	T	0.036569055	0.04525	0.057573456	0.10490	0.032909594	0.03406	0.060682535	0.11594	-6.238	0.51750	T	.	.	0.070	0.03407	B	.;.;.;.	.;.;.;.	2.176709	0.27743	17.57	0.90329166604061739	0.19595	0.83901	0.42992	D	AEFDBI	0.436249	0.49654	N	-0.36737916967277	0.26638	1.455358	-0.27732430516068	0.28846	1.611573	0.19703071017998	0.18073	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	2.98	0.33575	4.812000	0.62303	-0.124000	0.11690	0.656000	0.54149	1.000000	0.71638	0.000000	0.08366	0.979000	0.57723	0.0792:0.1466:0.6218:0.1523	4.998	0.13595	803	0.44167	.;.;.;.	.	.	.	.	.	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	0.003528	0.005051	0.002717	0.002924	0.000000	0.000000	0.009202	0.000000	0.02632	1578.33	34	chr1	147286377	.	G	A	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=745;ExcessHet=0;FS=6.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.483;SOR=1.322	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1592,0,1074	18	0	1	0
chr1	147613166	147613166	C	T	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon5:c.C337T:p.P113S	.	0	225	1	0	0	1	0.00221729	.	.	.	3208883	BCL9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00188700324815	0.0018	.	0.0011	0.0004	0.0004	0	0	0.0019	0	0.0002	0.0011255	174	154602	rs41295833	0.0013	0.0013	0.0013	0.0014	0.0016	0.0013	0.0013	0.0016	0.0016	2.987e-05	0.0003	0.0012	0	0.0002	0.0009	0.0016	0.0008	0.0002	0.0012	0.0012	0.0014	0.0011	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0005	0.0009	0	0.0003	0	0.0024	0.0005	0	0.661	0.04685	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.000154	0.49130	D	0.173720	0.917682	0.36586	D	-0.55	0.02420	N	0.78	0.49358	T	0.85	0.01736	N	0.115	0.10340	-1.0765	0.08043	T	0.027	0.11485	T	10	0.0059382617	0.00133	T	0.001887	0.03325	T	0.070	0.20419	.	.	0.147330786459	0.14319	0.05737719411482173	0.05678	0.076956098967	0.08643	0.385186463594	0.22989	T	0.049551	0.28339	T	-0.579149	0.00195	T	-0.609921	0.11990	T	0.0219591725617647	0.00905	T	0.783822	0.42110	T	0.060926493	0.12557	0.077736914	0.17346	0.060926493	0.12557	0.077736914	0.17346	-2.73	0.07558	T	.	.	0.062	0.01215	B	.	.	2.441620	0.31422	18.74	0.98624171501786861	0.43825	0.92330	0.55463	D	AEFBI	0.423961	0.48933	N	-0.272964564197895	0.30196	1.681465	-0.0128931968547919	0.39132	2.315587	0.999884490038943	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	4.45	0.53365	2.926000	0.48587	2.297000	0.31994	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.6749:0.3251:0.0	14.567	0.67780	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	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	488.33	34	chr1	147613166	.	C	T	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.862;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.802;SOR=0.573	GT:AD:DP:GQ:PL	0/1:24,20:44:99:502,0,729	18	0	1	0
chr1	148535490	148535490	G	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon63:c.C7897A:p.Q2633K	.	804	715	1	2	0	5	0.00348432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000400649673096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256020329	0.0050	0.0037	0.0036	0.0061	0.0189	0.0048	0.0047	0.0179	0.0175	0.0019	0.0081	0.0044	0.0006	0.0004	0.0094	0.0030	0.0040	0.0189	0.0021	0.0031	0.0021	0.0021	0.0137	0.0018	0.0017	0.0092	0.0077	0.0010	0	0.0034	0.0030	0.0008	0.0002	0.0104	0.0020	0.0037	0.0137	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.10626	.	.	.	.	.	.	.	0.018293291	0.00397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70353	0.33029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16275	B	.;.;.	.;.;.	0.270338	0.06479	2.957	.	.	.	.	.	.	0.026379	0.01970	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.283000	0.08467	-0.911000	0.06955	0.218000	0.18051	0.002000	0.15269	0.000000	0.08366	0.017000	0.10941	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	78.42	5	chr1	148535490	.	G	T	78.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=171;ExcessHet=0;FS=0;InbreedingCoeff=-0.0334;MLEAC=1;MLEAF=0.026;MQ=37.6;MQRankSum=-0.674;QD=13.07;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:92:92,0,94	18	0	1	0
chr1	148590948	148590948	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.A587T:p.E196V	.	797	712	11	2	0	15	0.0104239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179002479	0.0023	0.0068	0.0024	0.0022	0.0059	0.0022	0.0021	0.0033	0.0026	0.0012	0.0007	0.0031	0	0.0043	0.0059	0.0028	0.0023	0.0002	0.0022	0.0079	0.0025	0.0019	0.0026	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0019	0.0016	0	0.0023	0	0.0026	0.0007	0.0006	.	.	.	0.013	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	.	.	.	0.075	0.08366	.	.	.	.	.	.	.	0.07571003	0.11735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.;.;.;.;.	.;.;.;.;.	0.639089	0.10078	6.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.111000	0.03414	-5.349000	0.01752	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	81.06	.	chr1	148590948	.	T	A	81.06	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.684;DP=399;ExcessHet=0.3892;FS=38.371;InbreedingCoeff=-0.1232;MLEAC=3;MLEAF=0.088;MQ=27.97;MQRankSum=-1.119;QD=1.33;ReadPosRankSum=-0.09;SOR=4.798	GT:AD:DP:GQ:PL	0/1:20,3:23:17:17,0,571	14	0	3	2
chr1	149028590	149028590	C	T	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon37:c.C7186T:p.R2396W,PDE4DIP:NM_001198834:exon41:c.C6700T:p.R2234W,PDE4DIP:NM_014644:exon41:c.C6700T:p.R2234W,PDE4DIP:NM_001350522:exon42:c.C6541T:p.R2181W,PDE4DIP:NM_001198832:exon43:c.C6382T:p.R2128W,PDE4DIP:NM_001350521:exon43:c.C6994T:p.R2332W,PDE4DIP:NM_001350523:exon43:c.C6379T:p.R2127W,PDE4DIP:NM_001377392:exon44:c.C7111T:p.R2371W,PDE4DIP:NM_001377393:exon44:c.C6568T:p.R2190W	.	522	998	2	0	0	2	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.248e-06	9.643e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs142861673	0.0006	0.0006	0.0005	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	8.991e-05	0.0002	3.83e-05	0.0002	0.0006	0.0005	0.0006	0.0005	0.0008	0.0007	0.0007	0.0007	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	2.41e-05	0	0.0002	0	0.0002	0.0005	0	0.0013	0.0009	0.0004	0.189	0.21304	T	0.166	0.31427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	0.01459	T	-1.51	0.36787	N	0.268	0.30347	.	.	.	.	.	.	.	0.102127194	0.18700	T	.	.	.	.	.	.	.	.	.	0.5621689081825366	0.56143	.	.	.	.	.	0.026636	0.19670	T	.	.	.	.	.	.	.	.	.	0.819518	0.48720	T	.	.	.	.	.	.	.	.	-6.277	0.48540	T	.	.	0.104	0.20741	B	.;.;.;.;.	.;.;.;.;.	3.226851	0.43993	21.8	.	.	.	.	.	.	0.278791	0.39299	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981000	0.29124	-0.448000	0.09117	0.512000	0.23348	0.017000	0.19353	0.000000	0.08366	0.022000	0.11911	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	231.33	33	chr1	149028590	.	C	T	231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=448;ExcessHet=0;FS=4.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-0.736;QD=11.57;ReadPosRankSum=1.41;SOR=0.493	GT:AD:DP:GQ:PL	0/1:11,9:20:99:245,0,299	18	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:579,65:644:88:88,0,15687	8	0	11	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	77.23	36	chr1	149079127	.	C	G	77.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.324;DP=580;ExcessHet=0.3672;FS=65.39;InbreedingCoeff=-0.085;MLEAC=2;MLEAF=0.053;MQ=35.5;MQRankSum=-1.552;QD=1.06;ReadPosRankSum=-1.25;SOR=5.668	GT:AD:DP:GQ:PL	0/1:25,5:30:84:84,0,923	16	0	3	0
chr1	149929874	149929874	A	G	exonic	MTMR11	.	nonsynonymous SNV	MTMR11:NM_181873:exon15:c.T1474C:p.F492L,MTMR11:NM_001145862:exon16:c.T1690C:p.F564L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0061629479596	7.7e-05	0.00159744	0.0003	0	0.0009	0.0001	0.0002	0.0004	0.0011	6.07e-05	0.0003687	57	154602	rs144230247	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	8.961e-05	0.0008	0	0	0	0.0014	0.0002	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0016	0.0003	0.0003	0.0011	0.0009	4.813e-05	0	0.0016	0	0.0002	9.413e-05	0	0.0005	0.0009	0.0004	1.0	0.00964	T	0.732	0.06265	T	0.518	0.38659	P	0.204	0.41295	B	0.010476	0.29911	N	0.300767	0.808027	0.81001	D	0.955	0.23872	L	1.0	0.41392	T	-0.55	0.18042	N	0.362	0.44857	-1.0853	0.06353	T	0.030	0.12717	T	10	0.0177522	0.00381	T	0.006163	0.16141	T	0.073	0.21317	0.34	0.33141	0.463928626847	0.46019	0.47319279478544907	0.47238	0.437867567664	0.43827	0.549840569496	0.45835	T	0.00848	0.07783	T	-0.405384	0.02133	T	-0.422559	0.30783	T	0.0391717974180152	0.03541	T	0.683432	0.29175	T	0.16826898	0.37275	0.107833005	0.25966	0.16826898	0.37274	0.107833005	0.25965	-1.698	0.02224	T	.	.	0.771	0.77788	P	.;.	.;.	3.107525	0.41902	21.4	0.98482744006096712	0.42002	0.60850	0.31314	D	AEFBCI	0.315297	0.41991	N	-0.108294401675555	0.37032	2.148677	0.0589775457812478	0.42507	2.572263	0.999967956201386	0.48965	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.13	5.13	0.69729	2.615000	0.46032	11.233000	0.90171	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.431	0.54911	212	0.91760	.;Myotubularin-related 12-like C-terminal domain|Myotubularin-like phosphatase 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	0.003021	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	847.33	36	chr1	149929874	.	A	G	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.589;DP=720;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.322;SOR=1.223	GT:AD:DP:GQ:PL	0/1:44,30:74:99:861,0,1269	18	0	1	0
chr1	152214883	152214883	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6746A:p.S2249N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00132765679917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301540689	1.102e-05	0.0002	9.591e-06	1.246e-05	3.488e-05	6.52e-06	5.28e-06	9.26e-06	4.57e-06	0	2.246e-05	0.0002	0	0	0	5.427e-06	0	3.488e-05	2.012e-05	0.0003	2.625e-05	1.372e-05	1.477e-05	5.35e-06	2.48e-06	.	.	0	0	0	0.0006	0	0	0	1.477e-05	0	0	0.197	0.20607	T	0.299	0.20422	T	0.895	0.49247	P	0.431	0.45421	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	2.19	0.18724	T	-0.6	0.17834	N	0.104	0.08786	-0.9952	0.31245	T	0.010	0.03719	T	9	0.09332466	0.16505	T	0.001328	0.01885	T	0.049	0.13647	0.165	0.06955	0.390220360785	0.38632	0.01760573049099549	0.01715	.	.	0.678541243076	0.64059	T	0.015475	0.12973	T	-0.392035	0.02610	T	-0.800907	0.01880	T	0.0331251499003668	0.02491	T	0.20278	0.02336	T	0.029390195	0.02427	0.05816432	0.10702	0.029390195	0.02426	0.05816432	0.10702	-10.373	0.76114	D	.	.	0.379	0.58352	A	.	.	0.259635	0.06380	2.847	0.383186523665693	0.02577	0.00928	0.03601	N	AEFBI	0.029010	0.02662	N	-0.890265841887282	0.11074	0.5324383	-1.00852428203965	0.09597	0.4783846	4.54897909819059E-5	0.03989	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.86	1.94	0.25058	-0.885000	0.04269	.	.	-1.843000	0.00579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7438:0.2562:0.0	7.925	0.29030	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	471.33	114	chr1	152214883	.	C	T	471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.88;DP=4565;ExcessHet=0;FS=6.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.41;MQRankSum=-0.946;QD=1.77;ReadPosRankSum=0.386;SOR=1.177	GT:AD:DP:GQ:PL	0/1:224,42:266:99:485,0,6121	18	0	1	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:417,45:462:89:89,0,12144	11	0	7	1
chr1	155188222	155188222	A	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001018016:exon3:c.T196A:p.S66T,MUC1:NM_001018017:exon3:c.T169A:p.S57T,MUC1:NM_001044391:exon3:c.T169A:p.S57T,MUC1:NM_001044392:exon3:c.T196A:p.S66T,MUC1:NM_001204287:exon3:c.T250A:p.S84T,MUC1:NM_001204288:exon3:c.T196A:p.S66T,MUC1:NM_001204293:exon3:c.T223A:p.S75T,MUC1:NM_001204295:exon3:c.T196A:p.S66T,MUC1:NM_001204297:exon3:c.T250A:p.S84T,MUC1:NM_002456:exon3:c.T223A:p.S75T,MUC1:NM_001204285:exon4:c.T829A:p.S277T,MUC1:NM_001204286:exon4:c.T856A:p.S286T,MUC1:NM_001371720:exon7:c.T3094A:p.S1032T	Medullary cystic kidney disease 1, Autosomal dominant	419	1079	24	0	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0373890437637	7.7e-05	0.000199681	0.0006	0.0002	0.0003	0	0.0002	0.0008	0.0011	0.0007	0.000608	94	154602	rs35819649	0.0008	0.0008	0.0008	0.0008	0.0345	0.0007	0.0007	0.0306	0.0291	0.0013	0.0004	0.0004	0	0	0.0345	0.0006	0.0015	0.0008	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0010	0.0009	0	0.0003	0.0102	0.0006	0.0033	0	0.068	0.91255	T	0.052	0.92824	T	0.241	0.61523	B	0.109	0.73157	B	0.002579	0.36316	N	0.000000	1	0.81001	D	.	.	.	1.34	0.34841	T	-1.63	0.48523	N	0.307	0.58373	-1.0223	0.22965	T	0.126	0.43236	T	10	0.04964006	0.04581	T	0.037389	0.57584	D	0.158	0.41098	.	.	0.584703298469	0.58143	0.22163038141386274	0.22078	.	.	0.428813040257	0.29046	T	0.092718	0.39062	T	-0.383514	0.02960	T	-0.374109	0.36410	T	0.0245896355717764	0.01220	T	0.872913	0.59716	D	.	.	.	.	.	.	.	.	-7.908	0.66244	D	.	.	0.316	0.55096	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.854539	0.55855	23.7	0.98859798611533278	0.47442	0.61130	0.31395	D	AEFDBHCI	0.264529	0.38185	N	0.280769604676223	0.55173	3.681704	0.182546670705446	0.48890	3.099098	0.999994268478084	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.5	3.34	0.37357	1.241000	0.32346	5.720000	0.49467	0.691000	0.84096	0.987000	0.36337	1.000000	0.68203	0.561000	0.30436	0.8909:0.0:0.1091:0.0	7.132	0.24682	71	0.96981	SEA domain|SEA domain|SEA domain;.;SEA domain|SEA domain|SEA domain;SEA domain|SEA domain;SEA domain|SEA domain|SEA domain;SEA domain|SEA domain|SEA domain;.;.;SEA domain|SEA domain|SEA domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.024194	0.000000	0.020380	0.076023	0.000000	0.034483	0.006135	0.003788	0.02632	1944.33	33	chr1	155188222	.	A	T	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.517;DP=817;ExcessHet=0;FS=1.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.399;SOR=0.546	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1958,0,1925	18	0	1	0
chr1	155284689	155284689	A	G	exonic	HCN3	.	nonsynonymous SNV	HCN3:NM_020897:exon4:c.A1021G:p.M341V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.106657338548	.	0.000399361	0.0005	0	0	0	0	3.003e-05	0	0.0038	0.0004398	68	154602	rs575123350	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	0	0	0	0	0	0	8.993e-07	0.0003	0.0041	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.275	0.15770	T	0.129	0.34837	T	0.008	0.14655	B	0.086	0.29521	B	0.000006	0.62929	D	0.000000	0.999983	0.54805	D	0.63	0.15941	N	-5.0	0.98525	D	-3.41	0.67129	D	0.885	0.88356	0.611	0.92038	D	0.822	0.94019	D	10	0.057993174	0.06748	T	0.106657	0.78237	D	0.783	0.92787	0.599	0.72984	0.902372286892	0.90139	0.6721676486837246	0.67154	0.553496307488	0.52122	0.793290793896	0.80944	T	0.668157	0.90119	D	0.051981	0.58599	T	0.300101	0.88203	D	0.217804791137421	0.21354	T	.	.	.	0.36391708	0.58132	0.38416696	0.63364	0.36391708	0.58133	0.38416696	0.63364	-9.632	0.71678	D	.	.	0.211	0.43869	B	.	.	3.995292	0.58836	24.0	0.98083969652646363	0.38133	0.98163	0.80146	D	AEFGBI	0.899489	0.84394	D	0.0891334070085262	0.45956	2.843656	0.269443191270534	0.53761	3.543742	0.999999889297771	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	9.322000	0.95579	7.113000	0.57572	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	13.280	0.59642	43	0.97828	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1211.33	34	chr1	155284689	.	A	G	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.285;DP=709;ExcessHet=0;FS=12.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.101;SOR=0.998	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1225,0,994	18	0	1	0
chr1	155910776	155910776	C	G	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256821:exon2:c.G37C:p.G13R	Noonan syndrome 8, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0017161436875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439934026	1.163e-05	1.163e-05	9.529e-06	1.375e-05	1.349e-05	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	1.159e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	-0.25	0.67011	T	0.14	0.05405	N	0.207	0.22998	-0.9570	0.39735	T	0.076	0.30460	T	6	0.09249446	0.16292	T	0.001716	0.02856	T	0.080	0.23350	0.257	0.19845	0.176862962021	0.17281	0.604675987802499	0.60398	0.928649804324	0.71733	0.448512613773	0.31740	T	.	.	.	-0.322159	0.06723	T	-0.603682	0.12503	T	0.0479024542595979	0.05126	T	0.484552	0.14745	T	.	.	.	.	.	.	.	.	-3.13	0.11644	T	.	.	0.166	0.36633	B	.	.	0.902953	0.12768	9.287	0.87669420520668373	0.17395	0.01676	0.05356	N	AEFDGBHCI	0.036230	0.04793	N	-1.1159095254178	0.06360	0.2925335	-1.38397556372425	0.03422	0.1595951	0.999999999998504	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.07	-8.13	0.00945	-0.156000	0.10086	0.059000	0.14106	-0.331000	0.05774	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2457:0.3279:0.3181:0.1084	2.410	0.04152	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1308.33	36	chr1	155910776	.	C	G	1308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=1062;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.06;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,54:114:99:0|1:155910776_C_G:1322,0,1526:155910776	18	0	1	0
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	568.58	42	chr1	156011827	.	G	A	568.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.242;DP=1001;ExcessHet=0.119;FS=149.47;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=0.387;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:99:0|1:156011822_G_A:178,0,2648:156011822	16	0	2	1
chr1	156325024	156325024	T	C	exonic	CCT3	.	nonsynonymous SNV	CCT3:NM_001008800:exon4:c.A256G:p.S86G,CCT3:NM_005998:exon6:c.A370G:p.S124G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	.	0.00299521	0.0012	0	0	0	0	1.499e-05	0	0.0090	0.0010996	170	154602	rs568371590	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	2.236e-05	0	5.038e-05	0	0	8.094e-06	0.0004	0.0080	0.0002	0.0002	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.28	0.28395	T	0.327	0.19599	T	0.0	0.02946	B	0.003	0.08700	B	0.000002	0.62929	D	0.098887	0.560948	0.31257	N	1.375	0.34280	L	-1.25	0.90083	T	-1.73	0.49846	N	0.153	0.27910	-0.6077	0.64499	T	0.356	0.71912	T	10	0.012339562	0.00266	T	.	.	.	0.211	0.50185	0.473	0.54859	0.595254844501	0.59204	0.3281986608329994	0.32732	0.247031045068	0.27239	0.379136145115	0.22134	T	0.520094	0.83201	D	-0.300764	0.08588	T	-0.19883	0.54757	T	0.0234866725732969	0.01081	T	0.908809	0.67884	D	0.18849722	0.40352	0.1347888	0.32291	0.18849722	0.40351	0.1347888	0.32290	-5.608	0.45495	T	.	.	0.058	0.07177	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.726274	0.35675	19.96	0.99143598162971192	0.53600	0.73781	0.36089	D	AEFBHCI	0.200214	0.32696	N	-0.201547362518191	0.33071	1.872123	-0.0210955045498689	0.38764	2.288508	0.361853885192808	0.19785	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	4.28	0.50183	0.479000	0.21938	3.432000	0.38322	0.644000	0.52426	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.1817:0.0:0.8183	6.060	0.19060	428	0.80967	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1195.33	33	chr1	156325024	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.631;DP=732;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.52;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1209,0,929	18	0	1	0
chr1	156657729	156657729	A	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon11:c.A2264T:p.D755V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.050127495873	.	.	8.379e-06	9.87e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs778115371	1.096e-05	1.094e-05	8.178e-06	1.376e-05	5.997e-05	6.49e-06	5.25e-06	9.93e-06	4.55e-06	5.997e-05	0	0	0	0	0	1.08e-05	1.658e-05	1.16e-05	6.581e-06	6.568e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.000000	1	0.81001	D	-0.28	0.03718	N	2.16	0.19166	T	-4.05	0.74504	D	0.958	0.96758	-1.0842	0.06553	T	0.053	0.22501	T	10	0.8621477	0.85440	D	0.050127	0.64108	D	0.534	0.80426	0.581	0.70733	0.563544018958	0.56017	0.807278848272202	0.80682	0.60531897613	0.55427	0.65486061573	0.60676	T	0.240299	0.60859	T	0.0908319	0.63282	D	0.0748441	0.75233	D	0.845085263252258	0.49747	D	0.964804	0.86967	D	0.53964293	0.69376	0.40819803	0.65144	0.53964293	0.69377	0.40819803	0.65144	-13.053	0.89581	D	.	.	0.913	0.83674	P	.	.	5.547135	0.92016	32	0.99473368074307456	0.66472	0.98197	0.80448	D	ALL	0.930261	0.91729	D	0.569103639194587	0.71252	5.622802	0.584812205872681	0.73849	6.038499	1.0	0.98316	0.72623	0.87236	0	0.218748	0.04544	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	5.1	5.1	0.68917	9.325000	0.96006	11.084000	0.85803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.885	0.57431	779	0.47767	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr1	156657729	.	A	T	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=761;ExcessHet=0;FS=0.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=1.43;SOR=0.591	GT:AD:DP:GQ:PL	0/1:91,52:143:99:1108,0,2145	18	0	1	0
chr1	158329915	158329915	C	T	exonic	CD1B	.	nonsynonymous SNV	CD1B:NM_001764:exon3:c.G544A:p.E182K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00717343882109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.105	0.38016	T	0.0	0.02946	B	0.001	0.04355	B	0.580924	0.11144	N	0.780131	1	0.08975	N	1.885	0.50048	L	3.27	0.06602	T	-2.51	0.54546	D	0.154	0.15888	-0.9152	0.46194	T	0.005	0.01542	T	10	0.08332151	0.13847	T	0.007173	0.19006	T	0.025	0.05312	0.566	0.68768	0.242825505644	0.23883	0.4631749455968398	0.46236	0.0150787792604	0.01433	0.331341505051	0.15137	T	0.07051	0.33978	T	-0.273729	0.11344	T	-0.630969	0.10341	T	0.0646367371082306	0.07876	T	0.325467	0.06691	T	0.3038665	0.53249	0.14224216	0.33846	0.3038665	0.53249	0.14224216	0.33845	-6.265	0.48445	T	.	.	0.092	0.13503	B	.	.	-0.246617	0.02861	0.404	0.94715915799436479	0.25383	0.00559	0.02549	N	AEFDGBHCI	0.030030	0.02944	N	-1.24359394074822	0.04384	0.197765	-1.29318450694281	0.04521	0.2134812	0.999999305753499	0.74766	0.525926	0.21836	0	0.596394	0.48810	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.46	-0.99	0.09715	-3.858000	0.00392	-6.671000	0.01336	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.1743:0.3736:0.1704:0.2817	0.692	0.00836	873	0.30802	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1061.33	34	chr1	158329915	.	C	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.899;DP=733;ExcessHet=0;FS=5.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.17;SOR=1.429	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1075,0,1385	18	0	1	0
chr1	159018529	159018529	C	T	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon4:c.C682T:p.P228S,IFI16:NM_001376587:exon5:c.C850T:p.P284S,IFI16:NM_001376592:exon5:c.C850T:p.P284S,IFI16:NM_005531:exon5:c.C850T:p.P284S,IFI16:NM_001364867:exon6:c.C850T:p.P284S,IFI16:NM_001376588:exon6:c.C850T:p.P284S,IFI16:NM_001376589:exon6:c.C850T:p.P284S,IFI16:NM_001376591:exon6:c.C850T:p.P284S	.	430	1082	10	0	0	10	0.00459982	.	.	.	2806090	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00346957569323	0.0073	0.00199681	0.0054	0.0015	0.0041	0	0.0018	0.0082	0	0.0018	0.0056338	871	154602	rs149606671	0.0085	0.0085	0.0086	0.0084	0.0098	0.0084	0.0083	0.0096	0.0095	0.0012	0.0045	0.0201	2.52e-05	0.0021	0.0069	0.0098	0.0089	0.0016	0.0057	0.0057	0.0062	0.0052	0.0091	0.0054	0.0053	0.0086	0.0083	0.0017	0.0011	0.0049	0.0176	0.0002	0.0018	0	0.0091	0.0066	0.0010	0.023	0.48186	D	0.325	0.19188	T	0.091	0.38912	B	0.077	0.43280	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.55	0.13795	T	-5.11	0.84315	D	0.195	0.24260	-0.9644	0.38330	T	0.009	0.03227	T	8	0.004410118	0.00090	T	0.00347	0.07847	T	0.028	0.06331	.	.	0.231873229951	0.22792	0.022252710986500997	0.02177	0.256966227711	0.28266	0.2648396492	0.05481	T	0.032307	0.22431	T	-0.598217	0.00150	T	-0.61975	0.11204	T	0.0227025776139553	0.00989	T	0.726327	0.34071	T	0.106426455	0.25164	0.27802032	0.53759	0.106426455	0.25164	0.27802032	0.53758	-5.645	0.45375	T	.	.	0.139	0.33868	B	.;.;.;.;.;.	.;.;.;.;.;.	0.667322	0.10358	7.085	0.95057595716720467	0.26081	0.01801	0.05620	N	AEFBCI	0.045081	0.07332	N	-1.18063718176045	0.05293	0.2409521	-1.321354259839	0.04155	0.1953755	0.999840390220952	0.43971	0.67177	0.52595	0	0.662677	0.63036	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.9	-2.64	0.05757	-1.791000	0.01854	-12.573000	0.00515	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.1912:0.2999:0.3774:0.1315	1.857	0.02987	911	0.21964	.;.;HIN-200/IF120x|HIN-200/IF120x;.;.;HIN-200/IF120x|HIN-200/IF120x	.	.	AIM2|CADM3-AS1	Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.005051	0.013587	0.005848	0.000000	0.008621	0.009146	0.015152	0.02632	1898.33	34	chr1	159018529	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.29;SOR=0.723	GT:AD:DP:GQ:PL	0/1:92,71:163:99:1912,0,2585	18	0	1	0
chr1	160190977	160190977	G	A	exonic	CASQ1	.	nonsynonymous SNV	CASQ1:NM_001231:exon1:c.G226A:p.E76K	Myopathy, vacuolar, with CASQ1 aggregates, Autosomal dominant	421	1100	1	0	0	1	0.000454339	.	.	.	731798	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.00729738340071	0.0011	0.00139776	0.0009	0.0027	0.0005	0	0.0002	0.0009	0.0011	0.0002	0.0007891	122	154602	rs79469730	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0006	0.0024	0.0022	0.0029	0.0006	0	5.038e-05	0.0003	0.0010	0.0007	0.0008	0.0004	0.0012	0.0012	0.0013	0.0011	0.0025	0.0010	0.0010	0.0021	0.0020	0.0025	0	0.0012	0	0	0.0002	0.0068	0.0007	0.0014	0.0006	0.477	0.08310	T	0.922	0.02855	T	0.262	0.31549	B	0.024	0.20255	B	0.000095	0.51296	D	0.128784	0.564408	0.35277	D	1.355	0.33814	L	1.17	0.37910	T	-0.47	0.15178	N	0.369	0.41063	-1.0993	0.04177	T	0.027	0.11663	T	10	0.0074266493	0.00169	T	0.007297	0.19361	T	0.124	0.34239	.	.	0.411265580357	0.40742	0.49338960049485386	0.49259	0.137146261983	0.15466	0.565878152847	0.48096	T	0.195478	0.55157	T	-0.474203	0.00801	T	-0.458552	0.26757	T	0.0295635563837358	0.01922	T	0.742326	0.36163	T	0.36788386	0.58428	0.2674944	0.52608	0.36788386	0.58429	0.2674944	0.52607	-4.198	0.26722	T	0.0978891860498626	0.06939	0.084	0.09481	B	.	.	3.037848	0.40717	21.2	0.98742613348543662	0.45527	0.25244	0.22640	N	AEFDBHI	0.289116	0.40084	N	-0.454425369089192	0.23591	1.267892	-0.349888773518442	0.26512	1.465	0.990704207255188	0.32242	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.584449	0.35598	0	.	.	4.21	4.21	0.48984	1.862000	0.39088	7.564000	0.60548	0.676000	0.76740	0.193000	0.24225	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	15.576	0.76135	358	0.85037	.	.	.	.	.	.	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	0.005539	0.020202	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1355.33	34	chr1	160190977	.	G	A	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.978;SOR=0.697	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1369,0,1346	18	0	1	0
chr1	173524920	173524920	C	T	exonic	SLC9C2	.	nonsynonymous SNV	SLC9C2:NM_178527:exon20:c.G2373A:p.M791I	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00587598425813	7.7e-05	0.000199681	0.0005	0	8.663e-05	0	0	0.0004	0.0011	0.0019	0.0004528	70	154602	rs41265230	0.0006	0.0006	0.0005	0.0006	0.0021	0.0005	0.0005	0.0018	0.0017	0.0001	0.0001	0	0	1.872e-05	0.0009	0.0005	0.0005	0.0021	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0005	0.0009	0.0008	0.892	0.02471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002694	0.36102	N	0.242909	1	0.81001	D	-2.095	0.00157	N	3.9	0.03516	T	0.93	0.01551	N	0.217	0.24260	-1.0056	0.28277	T	0.001	0.00287	T	10	0.010384828	0.00231	T	0.005876	0.15281	T	0.039	0.10176	0.323	0.30387	0.0482279557977	0.04254	0.15347132111840742	0.15269	0.256899991829	0.28255	0.472858846188	0.35073	T	5.75E-4	0.00232	T	-0.672495	0.00053	T	-0.751999	0.03409	T	0.0101978160644971	0.00138	T	0.505249	0.15946	T	0.048559345	0.08483	0.05955811	0.11199	0.048559345	0.08482	0.05955811	0.11199	-0.719	0.00736	T	.	.	0.148	0.32709	B	.	.	0.124159	0.05210	1.720	0.3851584934251992	0.02602	0.08591	0.14499	N	AEFI	0.047308	0.07951	N	-1.16743894192085	0.05499	0.2508367	-0.945071199712004	0.11037	0.5598566	0.0180285420360005	0.13014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	0.802	0.17828	-0.031000	0.12237	-0.793000	0.07406	-0.218000	0.08083	0.995000	0.38783	0.020000	0.20764	0.173000	0.21076	0.1456:0.2434:0.0:0.611	3.941	0.08825	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1827.33	40	chr1	173524920	.	C	T	1827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=767;ExcessHet=0;FS=4.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.568;SOR=0.385	GT:AD:DP:GQ:PL	0/1:51,74:125:99:1841,0,1284	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,36:67:99:1|0:175160809_TC_T:2672,1107,1180:175160809	9	2	8	0
chr1	175406219	175406219	T	C	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon3:c.A496G:p.T166A	.	410	1091	17	4	0	25	0.0113276	.	.	.	226706	Inborn_genetic_diseases|Parkinson_disease|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.194	0.0196161415428	0.0039	0.000399361	0.0044	0.0006	0.0062	0	0.0021	0.0063	0.0022	0.0012	0.0041267	638	154602	rs147204644	0.0047	0.0047	0.0048	0.0047	0.0104	0.0047	0.0046	0.0083	0.0075	0.0008	0.0052	0.0098	0	0.0023	0.0104	0.0052	0.0053	0.0015	0.0040	0.0040	0.0042	0.0039	0.0059	0.0038	0.0037	0.0053	0.0051	0.0010	0.0077	0.0059	0.0072	0	0.0021	0.0274	0.0058	0.0071	0.0019	0.182	0.21801	T	0.398	0.15109	T	0.929	0.51690	P	0.404	0.44625	B	0.000001	0.62929	D	0.056010	0.999536	0.47451	D	1.265	0.31966	L	-0.15	0.65192	T	-1.45	0.35597	N	0.27	0.32921	-0.6210	0.63947	T	0.236	0.60258	T	10	0.010126919	0.00227	T	0.019616	0.42029	T	0.194	0.47447	.	.	0.503814114792	0.50018	0.23775031368350852	0.23689	0.2074211791	0.23197	0.375888466835	0.21673	T	0.316209	0.68777	T	-0.35415	0.04471	T	-0.275797	0.47233	T	0.0220171038726052	0.00910	T	0.844516	0.52185	T	0.18868846	0.40379	0.19583702	0.43282	0.18868846	0.40379	0.19583702	0.43281	-2.173	0.03911	T	.	.	0.069	0.02960	B	.;.	.;.	3.119742	0.42115	21.5	0.83340463580801472	0.14673	0.97095	0.72660	D	AEFDBI	0.666990	0.63527	D	0.253631753391221	0.53819	3.549246	0.259387853843333	0.53186	3.48873	0.999999912468027	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.13	5.13	0.69729	3.788000	0.55151	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	14.615	0.68140	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.014946	0.023529	0.050000	0.017241	0.015244	0.000000	0.02632	880.33	48	chr1	175406219	.	T	C	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-1.92;SOR=0.743	GT:AD:DP:GQ:PL	0/1:25,30:55:99:894,0,683	18	0	1	0
chr1	176710175	176710175	T	C	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P	.	439	1059	23	1	0	25	0.0116659	0.0002	0.024	.	696287	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.094	.	0.0021	0.00359425	0.0049	0.0003	0.0009	0.0002	0.0032	0.0019	0.0068	0.0262	0.0042173	652	154602	rs61745526	0.0030	0.0030	0.0024	0.0036	0.0230	0.0029	0.0029	0.0222	0.0219	0.0002	0.0012	0.0048	5.039e-05	0.0031	0.0040	0.0017	0.0031	0.0230	0.0022	0.0022	0.0020	0.0024	0.0170	0.0020	0.0019	0.0141	0.0130	0.0003	0	0.0025	0.0058	0	0.0027	0.0034	0.0021	0.0028	0.0170	0.139	0.25768	T	0.113	0.36901	T	0.459	0.36338	P	0.112	0.31615	B	0.000784	0.41772	D	0.292946	0.993073	0.41828	D	1.1	0.28011	L	4.73	0.01620	T	-0.02	0.07299	N	0.451	0.48872	-0.7085	0.60026	T	0.005	0.01578	T	10	0.005887717	0.00132	T	.	.	.	0.094	0.27141	.	.	0.307016933798	0.30308	0.708437537603531	0.70785	0.394741684332	0.40623	0.275438189507	0.06865	T	0.06599	0.32829	T	-0.522437	0.00426	T	-0.504968	0.21832	T	0.0113079434055903	0.00167	T	0.475152	0.14192	T	0.05695342	0.11272	0.07811483	0.17466	0.05695342	0.11271	0.07811483	0.17466	-4.195	0.26679	T	.	.	0.128	0.27252	B	.	.	2.359567	0.30260	18.38	0.98010147429630201	0.37551	0.68985	0.34011	D	AEFI	0.201366	0.32803	N	-0.344567882057387	0.27471	1.50752	-0.262300668550359	0.29350	1.643689	2.80146031325879E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	1.94	0.25058	0.579000	0.23490	2.451000	0.32813	-0.157000	0.11712	0.993000	0.37899	1.000000	0.68203	0.687000	0.33748	0.2441:0.094:0.1374:0.5245	1.382	0.02099	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.006098	0.015152	0.02632	1190.33	33	chr1	176710175	.	T	C	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.691;SOR=0.709	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1204,0,1377	18	0	1	0
chr1	177229913	177229913	C	T	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon2:c.C37T:p.R13W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00268277860056	0.0002	0.000399361	9.494e-05	0.0010	8.693e-05	0	0	0	0	0	9.06e-05	14	154602	rs200249029	3.095e-05	3.147e-05	3.827e-05	2.354e-05	0.0009	2.36e-05	2.106e-05	0.0007	0.0006	0.0009	6.821e-05	0	0	0	0.0002	3.613e-06	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0003	0	0	0	0	0	0	0	0.234	0.18061	T	0.014	0.62352	D	0.001	0.07471	B	0.0	0.01387	B	0.671850	0.06041	N	1.171970	1	0.08975	N	1.445	0.36358	L	2.49	0.14531	T	0.49	0.02993	N	0.168	0.17828	-0.9758	0.35948	T	0.014	0.05753	T	10	0.009442836	0.00213	T	0.002683	0.05492	T	0.011	0.01250	.	.	0.110392049598	0.10638	0.538714109826699	0.53796	0.278538947095	0.30337	0.472034454346	0.34960	T	0.008499	0.07800	T	-0.604016	0.00138	T	-0.70788	0.05405	T	0.0222445979958029	0.00936	T	0.772023	0.40277	T	0.04932138	0.08740	0.040631924	0.04436	0.04932138	0.08740	0.040631924	0.04436	-4.533	0.31318	T	.	.	0.074	0.04889	B	.	.	0.162355	0.05527	1.988	0.87411426970248807	0.17208	0.06788	0.12811	N	AEFDGHI	0.088196	0.17880	N	-1.51943531644597	0.01722	0.07536957	-1.54342407067947	0.02022	0.09238848	0.888028031982849	0.25779	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.7	-3.5	0.04411	-2.822000	0.00817	-0.172000	0.11217	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.344000	0.25523	0.2233:0.249:0.3275:0.2002	1.294	0.01941	729	0.54495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1658.33	64	chr1	177229913	.	C	T	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=799;ExcessHet=0;FS=8.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.049;SOR=0.902	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1672,0,1124	18	0	1	0
chr1	200898444	200898444	T	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon2:c.T44A:p.I15N,INAVA:NM_001367289:exon2:c.T44A:p.I15N,INAVA:NM_018265:exon2:c.T299A:p.I100N	.	414	1093	15	0	0	15	0.00681508	.	.	.	706984	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.264	.	0.0082	0.00439297	0.0074	0.0021	0.0103	0.0001	0.0020	0.0104	0.0099	0.0025	0.0073996	1144	154602	rs41269923	0.0097	0.0097	0.0099	0.0094	0.0111	0.0095	0.0095	0.0110	0.0109	0.0012	0.0102	0.0083	0	0.0026	0.0082	0.0111	0.0089	0.0037	0.0069	0.0069	0.0072	0.0065	0.0109	0.0065	0.0064	0.0097	0.0094	0.0020	0	0.0109	0.0098	0	0.0016	0.0136	0.0103	0.0118	0.0029	0.001	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	0.000103	0.50451	D	0.128098	0.997855	0.44256	D	.	.	.	0.34	0.58176	T	-6.47	0.91479	D	0.892	0.89131	-0.5719	0.65939	T	0.220	0.58358	T	10	0.0070993304	0.00161	T	.	.	.	0.264	0.57741	.	.	0.332276917938	0.32835	0.888246127385429	0.88793	0.897739696098	0.70522	.	.	.	0.17196	0.54886	T	-0.302521	0.08424	T	-0.196296	0.54998	T	0.0277452959493207	0.01651	T	0.934707	0.75503	D	0.9097601	0.92273	0.8162238	0.89298	0.9149783	0.92765	0.8162238	0.89298	-11.801	0.84719	D	0.6527463832259754	0.72512	0.676	0.81789	P	.;.;.;.	.;.;.;.	5.026818	0.83583	28.1	0.99383675144697092	0.62024	0.88193	0.48012	D	AEFDGBCI	0.687013	0.64850	D	0.645288491143497	0.76063	6.418071	0.618326756169285	0.76269	6.460339	0.999999994677431	0.74766	0.722319	0.85440	0	0.615513	0.52658	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	5.693000	0.67926	4.904000	0.45887	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.148	0.53340	797	0.45241	Domain of unknown function DUF3338;Domain of unknown function DUF3338;Domain of unknown function DUF3338;.	.	.	.	.	.	Likely benign	0	0	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	0.005040	0.015152	0.001359	0.000000	0.000000	0.000000	0.018293	0.000000	0.02632	342.33	42	chr1	200898444	.	T	A	342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.986;SOR=0.713	GT:AD:DP:GQ:PL	0/1:11,13:24:99:356,0,301	18	0	1	0
chr1	201217373	201217373	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon17:c.G9682A:p.G3228S,IGFN1:NM_001367841:exon18:c.G2311A:p.G771S	.	423	1086	13	0	0	13	0.00594966	.	.	.	2815917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1959.33	35	chr1	201217373	.	G	A	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.661;DP=777;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.793;SOR=0.774	GT:AD:DP:GQ:PL	0/1:58,74:132:99:1973,0,1370	18	0	1	0
chr1	203045444	203045444	G	T	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon7:c.G743T:p.R248L,PPFIA4:NM_001304332:exon7:c.G743T:p.R248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.165484769797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	3.42e-06	1.365e-06	2.76e-06	1.17e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.003e-07	1.66e-05	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.039	0.51112	D	.	.	.	.	.	.	0.042771	0.23808	U	0.204971	0.897216	0.81001	D	2.67	0.78151	M	-1.26	0.79176	T	-6.28	0.90729	D	0.697	0.70175	-0.2142	0.77304	T	0.372	0.73106	T	9	0.68091077	0.71273	D	0.165485	0.84434	D	0.537	0.80605	0.23	0.15705	0.854878177261	0.85347	0.490231241282763	0.48943	.	.	0.482768476009	0.36438	T	0.161275	0.64636	T	0.0954863	0.63802	D	-0.100617	0.63350	T	0.944409072399139	0.62054	D	0.846215	0.76191	T	0.30721033	0.53543	0.35537335	0.61066	0.30721033	0.53543	0.35537335	0.61065	-13.147	0.89959	D	.	.	0.228	0.48551	B	.;.	.;.	4.058510	0.60212	24.2	0.99744465462675946	0.83778	0.94763	0.62246	D	AEFDBI	0.604332	0.59547	D	0.248260919556224	0.53553	3.523657	0.303693394304637	0.55755	3.738462	0.999999638274471	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	4.021000	0.56907	5.905000	0.50941	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0833:0.0:0.9167:0.0	12.662	0.56183	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1256.33	37	chr1	203045444	.	G	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.171;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.38;SOR=0.676	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1270,0,1087	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,29:128:99:0|1:204444146_C_T:223,0,3290:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,29:128:99:0|1:204444146_C_T:223,0,3290:204444146	9	0	10	0
chr1	206023037	206023037	G	A	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon2:c.C89T:p.P30L,CTSE:NM_148964:exon2:c.C89T:p.P30L	.	434	1087	1	0	0	1	0.00045977	.	.	.	3959831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.000709745588222	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370714511	8.214e-05	8.209e-05	7.219e-05	9.219e-05	0.0003	7.006e-05	6.556e-05	0.0002	0.0001	8.966e-05	0.0003	3.833e-05	0	0	0.0003	7.108e-05	0.0001	0.0002	8.553e-05	8.533e-05	6.433e-05	0.0001	0.0004	4.963e-05	3.967e-05	7.31e-05	3.341e-05	7.23e-05	0	0	0	0	0	0	0.0001	0.0005	0.0004	0.086	0.54683	T	0.03	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.50976	T	-2.41	0.52938	N	0.245	0.28965	.	.	.	.	.	.	.	0.13214403	0.25150	T	.	.	.	.	.	.	.	.	.	0.7976888513533332	0.79721	.	.	.	.	.	0.402254	0.75933	T	.	.	.	.	.	.	.	.	.	0.314569	0.07200	T	.	.	.	.	.	.	.	.	-5.644	0.43192	T	.	.	0.098	0.22464	B	.;.	.;.	1.964332	0.24954	16.59	.	.	.	.	.	.	0.126009	0.24277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370000	0.20166	0.401000	0.18000	0.676000	0.76740	0.028000	0.20300	0.909000	0.28100	0.734000	0.35233	.	.	.	.	.	Aspartic peptidase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	655.33	34	chr1	206023037	.	G	A	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.908;DP=689;ExcessHet=0;FS=4.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.286;SOR=0.283	GT:AD:DP:GQ:PL	0/1:27,28:55:99:669,0,714	18	0	1	0
chr1	207134587	207134587	G	A	exonic	C4BPA	.	nonsynonymous SNV	C4BPA:NM_000715:exon9:c.G1268A:p.G423E	.	422	1081	17	2	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00198887350663	0.0036	0.00119808	0.0035	0.0013	0.0028	0	0.0008	0.0049	0.0022	0.0025	0.0033311	515	154602	rs116700161	0.0039	0.0039	0.0038	0.0040	0.0133	0.0038	0.0038	0.0109	0.0100	0.0023	0.0030	0.0056	0	0.0006	0.0133	0.0043	0.0038	0.0023	0.0032	0.0032	0.0031	0.0033	0.0057	0.0029	0.0028	0.0047	0.0044	0.0010	0	0.0057	0.0072	0	0.0003	0.0068	0.0044	0.0047	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.315838	0.04043	N	1.534540	1	0.08975	N	-0.42	0.02904	N	0.97	0.42502	T	1.91	0.00451	N	0.067	0.03956	-0.9912	0.32295	T	0.030	0.12935	T	10	0.004659772	0.00098	T	0.001989	0.03588	T	0.029	0.06676	.	.	0.0884992946249	0.08302	0.4354204860056958	0.43459	0.326256688425	0.34772	0.229504972696	0.01932	T	0.015339	0.12888	T	-0.705957	0.00034	T	-0.786157	0.02272	T	0.00216391015312993	0.00022	T	0.185681	0.01928	T	0.030554766	0.02739	0.0517051	0.08375	0.030554766	0.02739	0.0517051	0.08375	-2.025	0.03277	T	.	.	0.093	0.14247	B	.	.	-0.831776	0.01046	0.045	0.3417219507015683	0.02076	0.00142	0.00866	N	AEFI	0.313189	0.41841	N	-1.84554012682975	0.00443	0.01905541	-1.85636219953803	0.00595	0.02643259	0.999995766050152	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.98	-5.98	0.02034	-0.102000	0.10926	-3.112000	0.03051	-0.194000	0.09177	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.3054:0.0:0.5401:0.1545	6.619	0.21987	609	0.67094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.006793	0.011696	0.000000	0.008621	0.024390	0.000000	0.05263	2018.83	33	chr1	207134587	.	G	A	2018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=744;ExcessHet=0.119;FS=0.75;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.13;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,35:70:99:1047,0,1121	17	0	2	0
chr1	207485498	207485498	T	A	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001877:exon18:c.T3046A:p.F1016I,CR2:NM_001006658:exon19:c.T3223A:p.F1075I	Immunodeficiency, common variable, 7, Autosomal recessive	4	1515	2	1	0	4	0.00131839	.	.	.	1039754	Immunodeficiency,_common_variable,_7	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00560890129898	.	.	1.664e-05	0	0	0	0	1.511e-05	0	6.062e-05	1.29e-05	2	154602	rs756117589	1.164e-05	1.163e-05	1.498e-05	8.254e-06	0.0003	7.09e-06	5.8e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.098e-06	3.313e-05	4.639e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.238	0.17821	T	0.19	0.28482	T	0.003	0.26387	B	0.004	0.22131	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.65	0.29085	T	0.2	0.08495	N	0.152	0.19055	-0.9894	0.32753	T	0.023	0.09696	T	9	0.04843062	0.04292	T	0.005609	0.14500	T	0.028	0.06331	.	.	0.126345400529	0.12197	0.44002283457850566	0.43919	0.23021333136	0.25569	0.312844157219	0.12337	T	0.110298	0.42487	T	-0.37074	0.03557	T	-0.673465	0.07389	T	0.0187664534896612	0.00588	T	0.440756	0.12177	T	0.036151797	0.04393	0.042637583	0.05124	0.036151797	0.04393	0.042637583	0.05124	-3.704	0.19377	T	.	.	0.063	0.02342	B	.;.;.	.;.;.	0.303101	0.06786	3.306	0.3397564747917865	0.02053	0.00763	0.03156	N	AEFBI	0.033753	0.04062	N	-1.72254549081618	0.00764	0.03302862	-1.79739281218243	0.00768	0.03423039	0.992120783991058	0.32727	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.96	-8.79	0.00709	-0.926000	0.04096	-0.395000	0.09449	-0.349000	0.05595	0.005000	0.17040	0.000000	0.08366	0.219000	0.22435	0.3792:0.1334:0.3311:0.1563	2.020	0.03292	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	33	chr1	207485498	.	T	A	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.363;SOR=0.734	GT:AD:DP:GQ:PL	0/1:71,47:118:99:1174,0,1726	18	0	1	0
chr1	215743321	215743321	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon59:c.G11404A:p.E3802K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	57536	Retinitis_pigmentosa_39|not_specified|not_provided|Usher_syndrome_type_2A	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0015	0.000399361	0.0025	0.0003	0.0002	0	0.0147	0.0030	0.0022	0.0003	0.0021022	325	154602	rs147900972	0.0018	0.0019	0.0017	0.0018	0.0016	0.0017	0.0017	0.0016	0.0015	9.011e-05	0.0004	0.0002	0	0.0120	0.0005	0.0016	0.0015	0.0003	0.0016	0.0023	0.0014	0.0019	0.0019	0.0014	0.0014	0.0017	0.0016	0.0003	0	0.0013	0.0003	0	0.0084	0	0.0019	0.0010	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.064002	0.02173	N	2.363890	1	0.08975	N	-1.245	0.00777	N	0.61	0.53516	T	0.1	0.05810	N	0.041	0.01421	-0.9308	0.44021	T	0.033	0.14160	T	10	0.0034196079	0.00060	T	.	.	.	0.159	0.41286	.	.	0.666654704183	0.66384	0.3082658320832218	0.30739	0.0321524583886	0.03346	0.209891960025	0.00807	T	0.025839	0.19240	T	-0.638834	0.00085	T	-0.695344	0.06084	T	0.00356447044817729	0.00038	T	0.149085	0.01241	T	0.052373238	0.09758	0.04296978	0.05241	0.052373238	0.09758	0.04296978	0.05241	-4.791	0.34487	T	0.04896887042580937	0.00782	0.063	0.01387	B	.	.	-0.538839	0.01747	0.131	0.31368500502599023	0.01764	0.00234	0.01306	N	AEFI	0.026586	0.02021	N	-2.51814380761243	0.00014	0.0006249036	-2.51023141506991	0.00022	0.0009666474	0.99994018104832	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	-9.88	0.00387	-0.694000	0.05217	-4.788000	0.01986	-2.980000	0.00145	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.3549:0.0817:0.5634	15.983	0.79920	599	0.68140	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	679.33	40	chr1	215743321	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.717;SOR=0.721	GT:AD:DP:GQ:PL	0/1:38,30:68:99:693,0,890	18	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:60,25:92:13:13,0,752	8	0	11	0
chr1	225353859	225353862	AAAC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11590_11593del:p.K3864Sfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.874e-06	4.655e-05	7.26e-06	4.456e-06	7.615e-06	2.53e-06	1.83e-06	3.28e-06	2.37e-06	0	0	0	0	0	0	7.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	110.79	33	chr1	225353858	.	GAAAC	G	110.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.34;DP=753;ExcessHet=0.119;FS=87.185;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.49;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,14:79:86:0|1:225353858_GAAAC_G:86,0,2330:225353858	17	0	2	0
chr1	225353860	225353860	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	*	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,14:76:99:1|0:225353858_GAAAC_G:270,0,2258:225353858	16	0	2	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.62	36	chr1	225353862	.	C	CGGGG	1172.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,14:76:99:.:.:273,0,2237:.	12	0	4	3
chr1	225859264	225859264	T	C	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon15:c.A1309G:p.T437A	.	428	1082	12	0	0	12	0.00551471	.	.	.	1709657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.364	0.0165538578836	0.0004	0.000399361	0.0008	0	0.0002	0	0.0015	0.0008	0	0.0016	0.0006662	103	154602	rs149848059	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	8.961e-05	0.0002	0.0040	0	0.0017	0.0033	0.0005	0.0009	0.0016	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0004	0.0007	0.0005	2.411e-05	0	0.0003	0.0043	0	0.0010	0	0.0006	0.0019	0.0015	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	1.57	0.29342	T	-4.88	0.81350	D	0.741	0.74098	-0.6026	0.64710	T	0.236	0.60355	T	10	0.04238665	0.02983	T	0.016554	0.37860	T	0.364	0.68407	.	.	0.397838977388	0.39401	0.8697822686528869	0.86943	0.745040649288	0.63462	0.623672246933	0.56247	T	0.094788	0.39487	T	-0.200704	0.20704	T	-0.0743041	0.65318	T	0.0936489957348904	0.11644	T	0.999883	0.99972	D	0.80730873	0.84377	0.68790513	0.81642	0.80730873	0.84378	0.68790513	0.81643	-11.597	0.82832	D	0.5821562219136742	0.64898	0.691	0.72585	P	.	.	4.614181	0.73203	26.0	0.99811349838816488	0.89531	0.97909	0.78046	D	AEFBI	0.691830	0.65170	D	0.739429626177363	0.82215	7.707942	0.68285554828568	0.81080	7.443284	0.999174914721863	0.38651	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.883000	0.69466	7.645000	0.63394	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.121	0.72119	749	0.51929	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05263	5557.83	39	chr1	225859264	.	T	C	5557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=1197;ExcessHet=0.119;FS=1.107;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.488;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,132:309:99:0|1:225859264_T_C:3059,0,6824:225859264	17	0	2	0
chr1	225937506	225937506	T	G	exonic	LEFTY2	.	nonsynonymous SNV	LEFTY2:NM_003240:exon4:c.A1036C:p.M346L,LEFTY2:NM_001172425:exon5:c.A934C:p.M312L	Left-right axis malformations (3)	.	.	.	.	.	.	.	.	.	.	391077	Left-right_axis_malformations	MedGen:C1866091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0354114288825	.	.	4.15e-05	0	8.655e-05	0	0	1.513e-05	0	0.0002	3.88e-05	6	154602	rs747778361	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0002	2.566e-05	2.312e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0.0002	2.878e-05	3.313e-05	0.0002	2.629e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.543e-05	0	0	0	0	2.941e-05	0	0.0002	0.048	0.40832	D	0.0	0.92824	D	0.018	0.17786	B	0.038	0.23361	B	0.000000	0.84330	N	0.036152	0.999857	0.49910	D	2.595	0.75868	M	-0.11	0.64445	T	-2.72	0.58407	D	0.466	0.50237	-0.5341	0.67386	T	0.299	0.67073	T	10	0.3315641	0.50377	T	0.035411	0.56324	D	0.347	0.66863	0.879	0.96784	0.722692856958	0.72024	0.8744640623235156	0.87412	0.222391966033	0.24772	0.415165662766	0.27171	T	0.93028	0.98816	D	-0.218011	0.18265	T	-0.258786	0.48947	T	0.251825202531831	0.22954	T	0.69753	0.31713	T	0.6101609	0.73236	0.5430241	0.73587	0.6101609	0.73237	0.5430241	0.73587	-8.559	0.65280	D	0.6318707248111379	0.70138	0.210	0.43721	B	.;.	.;.	2.602021	0.33775	19.44	0.96371337658731981	0.29587	0.93870	0.59429	D	AEFBI	0.508235	0.53821	D	0.047453337572371	0.44024	2.684194	0.122943460610794	0.45726	2.830598	0.887881026316582	0.25776	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.21	4.05	0.46415	3.971000	0.56538	2.219000	0.31434	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.1683:0.8317	11.091	0.47333	769	0.49307	.;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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2570.33	36	chr1	225937506	.	T	G	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.22;DP=835;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.323;SOR=0.58	GT:AD:DP:GQ:PL	0/1:90,102:192:99:2584,0,2445	18	0	1	0
chr1	225937535	225937535	G	C	exonic	LEFTY2	.	nonsynonymous SNV	LEFTY2:NM_003240:exon4:c.C1007G:p.T336S,LEFTY2:NM_001172425:exon5:c.C905G:p.T302S	Left-right axis malformations (3)	.	.	.	.	.	.	.	.	.	.	390969	Left-right_axis_malformations	MedGen:C1866091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0184632705178	.	.	4.151e-05	0	8.657e-05	0	0	1.514e-05	0	0.0002	3.88e-05	6	154602	rs749823804	3.421e-05	3.42e-05	3.403e-05	3.438e-05	0.0002	2.632e-05	2.375e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0.0002	2.968e-05	3.312e-05	0.0002	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0002	0.033	0.46513	D	0.697	0.05882	T	0.125	0.26866	B	0.129	0.32841	B	0.001834	0.37892	N	0.318910	0.959471	0.38129	D	2.305	0.65957	M	-0.16	0.70133	T	-2.41	0.52938	N	0.096	0.07673	-0.8224	0.53784	T	0.247	0.61600	T	10	0.14570099	0.27635	T	0.018463	0.40531	T	0.156	0.40720	0.729	0.86286	0.733523360191	0.73115	0.6714179397965077	0.67079	0.261197806998	0.28672	0.286628901958	0.08434	T	0.732179	0.92513	D	-0.373665	0.03412	T	-0.482371	0.24193	T	0.129980857896091	0.15380	T	0.388561	0.09605	T	0.2113378	0.43456	0.15108806	0.35605	0.2113378	0.43456	0.15108806	0.35604	-3.904	0.22362	T	0.4593647306156946	0.54180	0.095	0.15475	B	.;.	.;.	1.606107	0.20528	14.79	0.97545293637975927	0.34534	0.92677	0.56277	D	AEFBI	0.355547	0.44724	N	-0.309842422495413	0.28774	1.589887	-0.292584371958856	0.28342	1.579574	0.0155589440489255	0.12727	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.21	0.418	0.15647	2.726000	0.46973	0.045000	0.13922	0.590000	0.31872	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.2618:0.0:0.6038:0.1344	5.374	0.15456	769	0.49307	.;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2425.33	36	chr1	225937535	.	G	C	2425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=809;ExcessHet=0;FS=1.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.799;SOR=0.556	GT:AD:DP:GQ:PL	0/1:75,90:165:99:2439,0,2034	18	0	1	0
chr1	236013477	236013477	T	G	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon11:c.A2338C:p.T780P	.	419	1092	10	0	1	11	0.00455789	.	.	.	696592	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.434	0.0845787781311	0.0017	0.00219649	0.0025	0.0003	0.0010	0	0.0005	0.0031	0.0022	0.0044	0.0024838	384	154602	rs148665567	0.0021	0.0021	0.0020	0.0022	0.0054	0.0021	0.0020	0.0041	0.0040	0.0002	0.0011	0.0087	0	0.0010	0.0054	0.0020	0.0023	0.0045	0.0014	0.0014	0.0016	0.0012	0.0050	0.0013	0.0012	0.0034	0.0029	0.0002	0	0.0014	0.0060	0	0.0006	0.0034	0.0019	0.0014	0.0050	0.249	0.17183	T	0.259	0.23097	T	0.007	0.14184	B	0.008	0.13708	B	0.000004	0.62929	D	0.140081	0.997972	0.81001	D	2.845	0.82663	M	-2.27	0.87433	D	-2.05	0.47008	N	0.343	0.38438	-0.1072	0.79934	T	0.589	0.85298	D	10	0.011613786	0.00253	T	0.084579	0.74356	D	0.434	0.73951	.	.	0.821476675837	0.81979	0.5624639663669474	0.56173	0.298502774148	0.32228	0.246935874224	0.03452	T	0.236662	0.60418	T	-0.222869	0.17603	T	-0.0926461	0.63962	T	0.0335566145425631	0.02563	T	0.80372	0.45098	T	0.26959804	0.50031	0.28830191	0.54846	0.3051688	0.53364	0.26970464	0.52853	-12.057	0.85127	D	0.4782036741901466	0.55736	0.134	0.29088	B	.	.	2.177875	0.27758	17.57	0.98578106603763294	0.43206	0.58100	0.30551	D	AEFDBI	0.483191	0.52373	N	-0.239030793035549	0.31543	1.769794	-0.155097484269544	0.33213	1.89752	0.997008592699608	0.35191	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	4.79	0.60909	0.790000	0.26562	1.158000	0.24531	0.665000	0.62972	0.849000	0.30428	0.907000	0.28067	0.941000	0.48210	0.2503:0.0:0.0:0.7497	10.870	0.46082	458	0.78890	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1216.33	35	chr1	236013477	.	T	G	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.544;DP=711;ExcessHet=0;FS=1.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.571;SOR=0.957	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1230,0,1021	18	0	1	0
chr2	10052473	10052473	G	A	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon4:c.G1454A:p.G485E,KLF11:NM_001177718:exon4:c.G1454A:p.G485E,KLF11:NM_003597:exon4:c.G1505A:p.G502E	Maturity-onset diabetes of the young, type VII	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00975025148108	.	.	8.459e-06	0	0	0	0	1.54e-05	0	0	6.5e-06	1	154602	rs776579041	1.231e-05	1.231e-05	1.089e-05	1.375e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.008	0.58626	D	0.011	0.64786	D	0.926	0.51467	P	0.454	0.46241	P	0.179603	0.17139	N	0.629715	0.999998	0.08975	N	2.425	0.70256	M	2.59	0.13552	T	-2.54	0.55501	D	0.113	0.10056	-1.0337	0.19268	T	0.043	0.18659	T	10	0.20233816	0.36349	T	0.00975	0.25449	T	0.062	0.17934	0.285	0.24280	0.665958451526	0.66314	0.21405030828801722	0.21321	0.0776506249003	0.08735	0.238849923015	0.02688	T	0.187875	0.54161	T	-0.231613	0.16436	T	-0.506826	0.21641	T	0.662778556346893	0.39018	D	0.728327	0.34315	T	0.09605263	0.22619	0.13208747	0.31704	0.09605263	0.22618	0.13208747	0.31703	-4.492	0.30784	T	.	.	0.228	0.57579	B	.;.;.	.;.;.	0.950061	0.13263	9.763	0.98140901379724865	0.38605	0.73250	0.35833	D	AEFBI	0.323669	0.42579	N	0.0777947316929397	0.45427	2.799516	0.0162646996758959	0.40470	2.416	0.999999903369323	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.08	5.2	0.71720	1.534000	0.35656	1.007000	0.23304	0.618000	0.50648	0.707000	0.28693	0.000000	0.08366	0.023000	0.12082	0.1296:0.1274:0.743:0.0	8.749	0.33763	816	0.41767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1076.33	33	chr2	10052473	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=697;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.51;SOR=1.024	GT:AD:DP:GQ:PL	0/1:34,35:69:99:1090,0,927	18	0	1	0
chr2	11585786	11585786	C	T	exonic	GREB1	.	nonsynonymous SNV	GREB1:NM_014668:exon9:c.C1040T:p.P347L,GREB1:NM_033090:exon9:c.C1040T:p.P347L,GREB1:NM_148903:exon9:c.C1040T:p.P347L	.	424	1097	1	0	0	1	0.000455581	.	.	.	3262428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.305	0.0433572849698	0.0004	.	0.0001	0.0003	0	0	0.0003	0.0002	0	6.058e-05	0.0001164	18	154602	rs149950879	0.0001	0.0001	8.308e-05	0.0001	0.0002	9.12e-05	8.65e-05	9.753e-05	7.056e-05	0.0002	4.472e-05	3.826e-05	2.519e-05	0.0004	0.0002	8.993e-05	8.289e-05	0.0002	7.228e-05	7.223e-05	8.99e-05	5.382e-05	0.0001	3.971e-05	3.127e-05	2.261e-05	9.07e-06	4.824e-05	0	0.0001	0	0	0.0004	0	4.409e-05	0	0	0.028	0.72154	D	0.002	0.79402	D	0.995	0.90584	D	0.742	0.92359	P	0.131531	0.18619	N	0.565543	1	0.81001	D	2.215	0.62545	M	3.09	0.20664	T	-4.79	0.83292	D	0.626	0.64478	-0.9383	0.42885	T	0.150	0.47787	T	10	0.6092783	0.67351	D	0.043357	0.60941	D	0.305	0.62620	.	.	0.574775486166	0.57145	0.35197198321597334	0.35111	1.16914040415	0.79708	0.493460416794	0.37918	T	0.075261	0.35135	T	-0.165418	0.25931	T	-0.179196	0.56597	T	0.980812609195709	0.73564	D	0.820118	0.47860	T	0.16342434	0.36484	0.2000535	0.43918	0.16342434	0.36483	0.2000535	0.43917	-5.247	0.39416	T	.	.	0.095	0.35602	B	.;.;.;.	.;.;.;.	4.449397	0.69149	25.3	0.99861339258055626	0.94002	0.96048	0.67297	D	AEFBCI	0.805602	0.73014	D	0.609418714190651	0.73769	6.020643	0.551325433846625	0.71490	5.662679	0.999999998017261	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	5.903000	0.69616	7.381000	0.58454	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0:1.0:0.0:0.0	19.289	0.94076	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2431.33	33	chr2	11585786	.	C	T	2431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.42;SOR=0.734	GT:AD:DP:GQ:PL	0/1:93,84:177:99:2445,0,2439	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,27:80:70:.:.:70,0,771:.	2	0	17	0
chr2	27099241	27099241	G	C	exonic	KHK	.	nonsynonymous SNV	KHK:NM_000221:exon6:c.G610C:p.A204P,KHK:NM_006488:exon6:c.G610C:p.A204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0982871703578	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs777377724	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	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	0.102	0.30515	T	0.025	0.56192	D	0.005	0.77913	B	0.132	0.86255	B	0.000000	0.84330	D	0.049673	0.999999	0.81001	D	1.55	0.39271	L	-1.05	0.76690	T	-3.52	0.68412	D	0.411	0.45142	-0.0413	0.81390	T	0.532	0.82665	D	10	0.8953911	0.88892	D	0.098287	0.76916	D	0.472	0.76554	0.741	0.87317	0.857948139865	0.85657	0.821439396445305	0.82100	0.502531134374	0.48607	0.529172062874	0.42917	T	0.63095	0.88561	D	0.140255	0.68349	D	-0.0208238	0.68974	D	0.934850096702576	0.60262	D	0.905309	0.66640	D	0.9554465	0.96818	0.8355556	0.90546	0.9554465	0.96819	0.8355556	0.90547	-5.23	0.39245	T	0.3631463089499464	0.45939	0.202	0.42678	B	.;.;.	.;.;.	2.574814	0.33375	19.32	0.99732106918795194	0.82833	0.91189	0.53035	D	AEFBCI	0.947012	0.95711	D	0.0786368644909906	0.45468	2.802757	0.089539761365856	0.44021	2.691981	0.99999966023627	0.74766	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.699908	0.69081	0	.	.	5.47	4.56	0.55644	4.265000	0.58663	5.722000	0.49476	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:0.8302:0.1698	13.399	0.60316	362	0.84826	.;Carbohydrate kinase PfkB;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1669.33	34	chr2	27099241	.	G	C	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=773;ExcessHet=0;FS=2.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.607;SOR=0.907	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1683,0,2163	18	0	1	0
chr2	27523381	27523381	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon19:c.G1820A:p.G607E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00350001630314	.	0.000199681	1.654e-05	0	8.666e-05	0	0	1.505e-05	0	0	1.94e-05	3	154602	rs202176106	6.85e-06	7.524e-06	4.09e-06	9.637e-06	6.708e-05	3.46e-06	2.53e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	4.496e-06	3.312e-05	0	4.598e-05	4.593e-05	2.57e-05	6.717e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	1.47e-05	0	0	0.222	0.18823	T	0.356	0.17166	T	.	.	.	.	.	.	0.040069	0.24099	U	0.200721	1	0.08975	N	.	.	.	2.27	0.17431	T	-0.13	0.08971	N	0.689	0.69474	-1.0314	0.20002	T	0.028	0.11882	T	10	0.24639407	0.41903	T	0.004	0.07939	T	0.176	0.44373	0.203	0.11797	0.416202232284	0.41236	0.1450451969482396	0.14427	0.0712296837041	0.07977	0.490724474192	0.37539	T	0.248378	0.61817	T	-0.165839	0.25866	T	-0.279021	0.46905	T	0.105542346835136	0.12955	T	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	1.254062	0.16513	12.59	0.77941519814847826	0.12088	0.06896	0.12921	N	AEFI	0.489977	0.52766	N	-0.595155779310374	0.19091	0.9964621	-0.587853631416946	0.19809	1.064507	0.995794005742018	0.34330	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.09	4.09	0.47038	1.289000	0.32913	2.723000	0.34327	0.596000	0.33519	0.083000	0.22414	0.992000	0.31684	0.065000	0.16320	0.0:0.0:1.0:0.0	11.994	0.52483	73	0.96914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	941.33	33	chr2	27523381	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=693;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.373;SOR=0.657	GT:AD:DP:GQ:PL	0/1:40,39:79:99:955,0,1085	18	0	1	0
chr2	29035573	29035573	-	TCCGG	exonic	TOGARAM2	.	frameshift insertion	TOGARAM2:NM_001321539:exon13:c.1762_1763insTCCGG:p.R591Gfs*43,TOGARAM2:NM_001321538:exon16:c.2170_2171insTCCGG:p.R727Gfs*43,TOGARAM2:NM_199280:exon17:c.2335_2336insTCCGG:p.R782Gfs*43	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	.	0.0038	0.0002	0.0023	0	0.0151	0.0054	0	0	0.0001537	4	26028	rs747462412	0.0030	0.0030	0.0031	0.0029	0.0034	0.0029	0.0029	0.0033	0.0032	0.0004	0.0010	7.869e-05	0	0.0070	0.0016	0.0034	0.0026	0.0002	0.0023	0.0024	0.0019	0.0028	0.0031	0.0021	0.0021	0.0028	0.0027	0.0005	0	0.0016	0	0	0.0092	0	0.0031	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000506	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1632.29	36	chr2	29035573	.	T	TTCCGG	1632.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=735;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-0.792;SOR=0.913	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1646,0,2097	18	0	1	0
chr2	29036639	29036639	G	C	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321539:exon14:c.G1944C:p.E648D,TOGARAM2:NM_001321538:exon17:c.G2352C:p.E784D,TOGARAM2:NM_199280:exon18:c.G2517C:p.E839D	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00872645496943	0.0002	0.000199681	8.24e-05	0.0002	8.651e-05	0	0	1.499e-05	0	0.0004	7.12e-05	11	154602	rs142594984	4.31e-05	4.309e-05	2.178e-05	6.464e-05	0.0006	3.443e-05	3.129e-05	0.0004	0.0004	0.0002	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	0.0006	6.567e-05	6.562e-05	8.994e-05	4.029e-05	0.0002	3.514e-05	2.615e-05	9.541e-05	6.945e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.556	0.06461	T	0.413	0.14412	T	0.005	0.12996	B	0.003	0.08700	B	0.702988	0.10077	N	0.872283	1	0.08975	N	.	.	.	2.88	0.10291	T	1.23	0.01037	N	0.157	0.16308	-0.9178	0.45851	T	0.013	0.05033	T	10	0.012591124	0.00270	T	0.008726	0.23050	T	0.015	0.02232	0.377	0.39156	0.0666544352282	0.05500	0.07752851409739421	0.07688	0.052293012637	0.05754	0.298822343349	0.10225	T	0.007316	0.06733	T	-0.591224	0.00165	T	-0.759069	0.03145	T	0.00682790755683411	0.00077	T	0.356464	0.08103	T	0.036813255	0.04600	0.03533998	0.02767	0.036813255	0.04600	0.03533998	0.02766	-4.81	0.34708	T	.	.	0.068	0.02927	B	.	.	-1.033746	0.00724	0.022	0.28320225262019255	0.01448	0.03689	0.08962	N	AEFDBI	0.068744	0.13576	N	-1.55833827935306	0.01486	0.06488962	-1.61840359410119	0.01547	0.07011073	0.999868769226738	0.44398	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	6.04	-7.15	0.01369	-1.349000	0.02734	-2.422000	0.03774	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.1725:0.468:0.2166:0.1429	5.176	0.14460	444	0.79803	TOG 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	.	.	.	.	.	.	.	.	0.02632	1877.33	33	chr2	29036639	.	G	C	1877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.929;SOR=0.646	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1891,0,1631	18	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	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	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.02632	1671.33	39	chr2	30787266	.	G	T	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.043;DP=775;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.09;SOR=0.612	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1685,0,1565	18	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	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.07895	10407.8	176	chr2	38071251	.	C	T	10407.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.82;DP=1593;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.148;SOR=0.772	GT:AD:DP:GQ:PL	0/1:128,134:262:99:3603,0,3005	16	0	3	0
chr2	38861016	38861016	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon5:c.C1088T:p.S363F,DHX57:NM_198963:exon5:c.C1394T:p.S465F	.	.	.	.	.	.	.	.	.	.	.	3243748	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00573104893292	0.0005	0.000399361	0.0002	0.0012	0.0002	0	0	0.0001	0	0.0001	0.0001876	29	154602	rs36035994	8.898e-05	8.893e-05	7.083e-05	0.0001	0.0015	7.626e-05	7.171e-05	0.0011	0.0010	0.0015	0.0002	3.835e-05	0	0	0.0005	3.778e-05	0.0003	5.802e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	1.47e-05	0.0005	0	.	.	.	0.109	0.37449	T	0.008	0.14655	B	0.007	0.12992	B	0.200876	0.16604	N	0.490290	0.885408	0.27976	N	1.87	0.49600	L	.	.	.	.	.	.	0.311	0.35088	-1.0408	0.17071	T	0.018	0.07659	T	10	0.025093138	0.00714	T	0.005731	0.14862	T	.	.	.	.	0.391930172978	0.38808	0.41092860481546084	0.41008	.	.	0.427234262228	0.28830	T	0.031671	0.22147	T	-0.386426	0.02836	T	-0.378292	0.35922	T	0.027588427066803	0.01629	T	0.691931	0.30130	T	0.052552734	0.09818	0.08448331	0.19439	0.052552734	0.09817	0.08448331	0.19439	-5.272	0.39665	T	.	.	0.115	0.22933	B	.	.	2.882443	0.38144	20.7	0.75502386985745762	0.11100	0.96276	0.68351	D	AEFBI	0.239485	0.36144	N	-0.645145429916276	0.17601	0.9071357	-0.529285815367922	0.21359	1.155091	0.763982981762272	0.23557	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	3.608000	0.53860	6.667000	0.56266	-0.119000	0.14319	0.998000	0.41325	1.000000	0.68203	0.500000	0.29017	0.0705:0.0:0.9295:0.0	14.480	0.67152	742	0.52873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1178.33	33	chr2	38861016	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=750;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.283;SOR=0.984	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1192,0,1872	18	0	1	0
chr2	39769856	39769856	C	A	exonic	THUMPD2	.	nonsynonymous SNV	THUMPD2:NM_001321468:exon3:c.G526T:p.D176Y,THUMPD2:NM_001321469:exon3:c.G247T:p.D83Y,THUMPD2:NM_001321470:exon3:c.G247T:p.D83Y,THUMPD2:NM_001321474:exon3:c.G526T:p.D176Y,THUMPD2:NM_001321475:exon3:c.G247T:p.D83Y,THUMPD2:NM_025264:exon3:c.G526T:p.D176Y	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	7.7e-05	0.00439297	0.0017	0	8.673e-05	0	0	3.025e-05	0.0011	0.0125	0.0015071	233	154602	rs372180419	0.0008	0.0008	0.0005	0.0012	0.0125	0.0008	0.0008	0.0119	0.0116	6.025e-05	0.0001	0	0	0	0.0002	6.929e-05	0.0008	0.0125	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	7.352e-05	0	0.0147	0.005	0.63226	D	0.013	0.63109	D	0.991	0.64070	D	0.913	0.64886	D	0.250127	0.03641	N	1.495250	1	0.08975	N	2.175	0.60977	M	.	.	.	-4.02	0.74269	D	0.323	0.36359	-0.9973	0.30673	T	0.131	0.44148	T	8	0.003576994	0.00065	T	.	.	.	0.052	0.14661	.	.	0.0551355673512	0.04727	0.3979613167786036	0.39711	0.0648718899618	0.07242	0.23792591691	0.02606	T	0.246994	0.61655	T	-0.381991	0.03027	T	-0.311092	0.43541	T	0.0844520195745752	0.10547	T	0.729327	0.34443	T	0.21591656	0.44037	0.16266005	0.37773	0.21591656	0.44037	0.16266005	0.37773	-5.698	0.43676	T	.	.	0.080	0.07985	B	.	.	2.874130	0.38013	20.6	0.99134319136610594	0.53356	0.19810	0.20804	N	AEFDBI	0.107701	0.21449	N	-0.36169959923519	0.26845	1.468235	-0.499697313726954	0.22163	1.202416	0.106550817213823	0.16532	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.26	-0.682	0.10769	0.144000	0.15956	-0.176000	0.11179	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.0:0.4192:0.1667:0.4141	4.340	0.10544	727	0.54702	THUMP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1466.33	33	chr2	39769856	.	C	A	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=721;ExcessHet=0;FS=3.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.776;SOR=1.071	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1480,0,1389	18	0	1	0
chr2	46917239	46917239	C	T	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288953:exon2:c.C44T:p.S15F	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	437	1082	3	0	0	3	0.0013844	.	.	.	2476795	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0019755591959	.	0.000798722	0.0047	0	0	0	0	0	0	0.0079	0.0004075	63	154602	rs555979766	0.0009	0.0008	0.0005	0.0013	0.0065	0.0009	0.0008	0.0060	0.0058	0	0.0001	0	0	6.008e-05	0.0005	0.0002	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0062	0.048	0.40068	D	0.399	0.15059	T	0.011	0.15914	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.25018	T	-0.55	0.16799	N	0.295	0.33360	-1.0132	0.25912	T	0.042	0.18035	T	7	0.0037568212	0.00070	T	0.001976	0.03535	T	0.028	0.06331	0.205	0.12076	0.260249123532	0.25628	.	.	.	.	.	.	.	.	.	.	-0.628013	0.00098	T	-0.672123	0.07473	T	0.0182769970305211	0.00546	T	0.490951	0.15096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	1.016781	0.13959	10.52	0.96153592390488918	0.28875	0.01026	0.03852	N	AEFBI	0.037318	0.05114	N	-0.993324690734008	0.08746	0.4112518	-1.14309657736267	0.06892	0.3333502	0.999404639576694	0.39524	0.559995	0.30671	0	0.475579	0.06741	0	0.507148	0.09336	0	0.550183	0.17644	0	.	.	0.235	0.235	0.14697	0.492000	0.22144	-1.685000	0.04918	0.333000	0.19617	0.019000	0.19563	0.000000	0.08366	0.039000	0.14166	.	.	.	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	808.33	52	chr2	46917239	.	C	T	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.61;DP=765;ExcessHet=0;FS=0.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.294;SOR=0.916	GT:AD:DP:GQ:PL	0/1:37,32:69:99:822,0,1061	18	0	1	0
chr2	54950761	54950761	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon29:c.G4195A:p.V1399I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00707992935952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255637169	7.148e-06	6.84e-06	7.052e-06	7.246e-06	8.342e-06	3.61e-06	2.64e-06	3.93e-06	2.84e-06	0	0	0	0	0	0	8.342e-06	1.724e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.123	0.27544	T	0.168	0.30631	T	0.059	0.23051	B	0.055	0.25995	B	.	.	.	.	0.999999	0.08975	N	1.17	0.29769	L	1.48	0.31731	T	-0.15	0.09297	N	0.152	0.15609	-1.0295	0.20616	T	0.059	0.24797	T	9	0.11238435	0.21077	T	0.00708	0.18759	T	0.022	0.04323	.	.	0.230578612272	0.22657	0.12045167175263102	0.11972	0.200203842647	0.22421	0.474930226803	0.35359	T	0.014637	0.12421	T	-0.305046	0.08192	T	-0.675954	0.07232	T	0.137100322182573	0.16023	T	0.844715	0.52235	T	0.03149752	0.03000	0.06543063	0.13260	0.03149752	0.03000	0.06543063	0.13259	-3.406	0.15137	T	.	.	0.066	0.02173	B	.	.	2.107759	0.26822	17.25	0.95257962344063885	0.26522	0.62674	0.31853	D	AEFBCI	0.123396	0.23898	N	-0.484242450693389	0.22596	1.20769	-0.40933424672475	0.24723	1.355453	0.999947125433624	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.97	4.17	0.48303	2.340000	0.43631	4.883000	0.45686	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.186000	0.21481	0.0679:0.2705:0.6615:0.0	10.285	0.42741	525	0.74024	HELP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1591.33	34	chr2	54950761	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.06;SOR=0.672	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1605,0,1517	18	0	1	0
chr2	68646184	68646184	-	TACT	exonic	PROKR1	.	frameshift insertion	PROKR1:NM_138964:exon2:c.363_364insTACT:p.Y123Lfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	1.365e-06	2.763e-06	2.706e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.706e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4340.29	33	chr2	68646184	.	C	CTACT	4340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.569;DP=906;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.3;SOR=0.94	GT:AD:DP:GQ:PL	0/1:127,112:241:99:4354,0,4990	18	0	1	0
chr2	74491141	74491141	G	A	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon4:c.G44A:p.R15Q,TTC31:NM_001376134:exon5:c.G347A:p.R116Q,TTC31:NM_001376135:exon5:c.G347A:p.R116Q,TTC31:NM_001376138:exon5:c.G128A:p.R43Q,TTC31:NM_001376139:exon5:c.G128A:p.R43Q,TTC31:NM_001376140:exon5:c.G128A:p.R43Q,TTC31:NM_001376141:exon5:c.G128A:p.R43Q,TTC31:NM_001376145:exon5:c.G128A:p.R43Q,TTC31:NM_001376129:exon6:c.G560A:p.R187Q,TTC31:NM_001376130:exon6:c.G560A:p.R187Q,TTC31:NM_001376132:exon6:c.G560A:p.R187Q,TTC31:NM_001376133:exon6:c.G560A:p.R187Q,TTC31:NM_001376136:exon6:c.G560A:p.R187Q,TTC31:NM_001376137:exon6:c.G560A:p.R187Q,TTC31:NM_022492:exon6:c.G560A:p.R187Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0385636800635	.	0.000599042	0.0002	0	0	0	0.0002	4.495e-05	0.0011	0.0010	0.0001746	27	154602	rs559169951	0.0001	0.0001	8.44e-05	0.0001	0.0012	9.805e-05	9.221e-05	0.0010	0.0010	2.987e-05	0	0	0	0.0004	0.0003	2.698e-05	6.623e-05	0.0012	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0.0004	0	2.94e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.89	0.48942	P	0.082	0.29098	B	0.471275	0.12275	N	0.733823	1	0.08975	N	1.1	0.28011	L	1.0	0.79072	T	-2.77	0.58733	D	0.525	0.57946	-0.5368	0.67285	T	0.508	0.81503	D	10	0.013127476	0.00280	T	0.038564	0.58299	D	0.229	0.52916	.	.	0.809627414608	0.80784	0.13045283044747077	0.12970	0.496165126897	0.48136	0.336551964283	0.15921	T	0.157879	0.50067	T	-0.221575	0.17779	T	-0.141495	0.59988	T	0.141398834877578	0.16395	T	0.865313	0.57956	D	0.12774141	0.29885	0.1623589	0.37718	0.12774141	0.29885	0.1623589	0.37717	-8.542	0.65222	D	.	.	0.325	0.54854	B	.;.;.	.;.;.	3.699337	0.52748	23.3	0.99867753839276596	0.94547	0.14892	0.18639	N	AEFGBI	0.060749	0.11567	N	-0.135957378160356	0.35833	2.063373	-0.245115895776798	0.29939	1.681536	0.998582504176612	0.37247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	2.04	0.25787	1.562000	0.35961	2.927000	0.35595	0.676000	0.76740	0.437000	0.26463	0.630000	0.25861	0.993000	0.69303	0.2341:0.0:0.7659:0.0	5.988	0.18674	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1384.33	33	chr2	74491141	.	G	A	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=733;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.28;SOR=0.586	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1398,0,1238	18	0	1	0
chr2	88027814	88027814	C	T	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750A:p.M250I,KRCC1:NM_016618:exon4:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00360557328611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.2972219	0.47284	T	0.003606	0.08247	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182418173270626	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.0289227	0.55579	T	-0.196231	0.55004	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.581203	0.50486	22.9	0.99264800120860308	0.57356	0.66198	0.32995	D	AEFDBI	0.185647	0.31297	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	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	.	.	.	.	.	.	.	.	0.04167	124.74	59	chr2	88027814	.	C	T	124.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.823;DP=1296;ExcessHet=0.119;FS=247.26;InbreedingCoeff=-0.1955;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.759;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,12:75:85:.:.:85,0,1379:.	11	0	1	7
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,28:229:99:0|1:94876587_C_A:571,0,8331:94876587	7	0	12	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	1153.43	347	chr2	94876599	.	C	T	1153.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.864;DP=4199;ExcessHet=0.7564;FS=4.755;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=57.82;MQRankSum=-14.46;QD=1;ReadPosRankSum=-2.48;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:227,27:254:99:.:.:145,0,9323:.	15	0	4	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,65:319:99:0|1:94876587_C_A:1965,0,10439:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,88:352:99:0|1:94876587_C_A:2880,0,10783:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,106:422:99:0|1:94876671_A_G:3500,0,12810:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,106:425:99:0|1:94876671_A_G:3491,0,12876:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,77:401:99:.:.:1871,0,8218:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,54:403:99:0|1:94876737_C_A:1211,0,14320:94876737	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,54:395:99:0|1:94876737_C_A:1235,0,14080:94876737	12	0	7	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:195,64:259:99:1410,0,5345	0	0	19	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	.	.	.	.	.	.	.	.	0.033	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:254,32:286:99:140,0,7103	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:178,117:295:99:2695,0,5455	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:165,79:244:99:1951,0,5185	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:207,26:233:99:157,0,8089	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:168,60:228:99:1449,0,5238	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:84,20:104:99:552,0,3436	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,55:146:99:0|1:95859969_A_AT:2036,0,3594:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,55:146:99:0|1:95859969_A_AT:2036,0,3594:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,55:145:99:0|1:95859969_A_AT:2039,0,3573:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:85,56:141:99:2096,0,2270	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,39:136:99:.:.:790,0,3711:.	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,49:135:99:.:.:1755,0,3390:.	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,47:122:99:0|1:95860020_G_A:1707,0,2988:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,44:119:99:0|1:95860020_G_A:1622,0,2997:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:57,29:86:99:1028,0,1626	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,24:160:99:0|1:95927222_G_GAT:598,0,5617:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,32:177:99:0|1:95927222_G_GAT:907,0,5971:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,46:194:99:0|1:95927222_G_GAT:1486,0,6076:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,67:237:99:0|1:95927222_G_GAT:2302,0,6937:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,94:279:99:0|1:95927222_G_GAT:3350,0,7465:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,97:283:99:0|1:95927222_G_GAT:3412,0,7413:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,67:205:99:0|1:95929092_T_C:2336,0,5457:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,76:245:99:0|1:95929092_T_C:2683,0,6827:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,93:288:99:0|1:95929092_T_C:3318,0,7908:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,97:301:99:0|1:95929092_T_C:3459,0,8274:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,103:310:99:0|1:95929092_T_C:3644,0,8343:95929092	0	0	19	0
chr2	96145051	96145051	G	A	exonic	DUSP2	.	nonsynonymous SNV	DUSP2:NM_004418:exon1:c.C304T:p.R102W	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0486785028326	0.0008	.	0.0005	0	0	0	0	0.0018	0	0	0.0006404	99	154602	rs202128160	0.0030	0.0029	0.0031	0.0030	0.0036	0.0029	0.0029	0.0035	0.0035	0.0004	0.0014	0.0006	0	0.0010	0.0024	0.0036	0.0025	8.922e-05	0.0021	0.0021	0.0024	0.0018	0.0038	0.0019	0.0019	0.0034	0.0033	0.0003	0	0.0027	0.0014	0	0.0002	0.0069	0.0038	0.0014	0	0.006	0.61437	D	0.006	0.70582	D	0.957	0.54824	D	0.326	0.41929	B	0.505589	0.11900	N	0.767253	0.999077	0.21650	N	1.995	0.54099	M	1.45	0.32482	T	-3.15	0.64132	D	0.1	0.08227	-1.0287	0.20876	T	0.056	0.23565	T	10	0.0112270415	0.00246	T	0.048679	0.63478	D	0.042	0.11227	.	.	0.251679625132	0.24793	0.4418131379139081	0.44098	1.1193126594	0.78252	0.919108450413	0.98254	D	0.379662	0.74237	T	-0.559087	0.00257	T	-0.578288	0.14698	T	0.0276129498296681	0.01632	T	0.825917	0.48908	T	0.14256355	0.32802	0.11035285	0.26607	0.14256355	0.32802	0.11035285	0.26606	-8.574	0.64917	D	.	.	0.122	0.25592	B	.	.	3.317400	0.45614	22.2	0.99877200163070956	0.95410	0.12652	0.17398	N	ALL	0.317464	0.42145	N	-0.299465328961258	0.29169	1.615211	-0.419721594066968	0.24419	1.337044	0.999999999964746	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.1	1.22	0.20300	-0.155000	0.10101	0.630000	0.20219	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.749000	0.35751	0.1043:0.378:0.3609:0.1568	3.064	0.05834	296	0.88164	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003236	0.000000	0.004412	0.006250	0.000000	0.000000	0.003356	0.004032	0.05263	1448.81	34	chr2	96145051	.	G	A	1448.81	.	AC=2;AF=0.053;AN=38;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.69;SOR=1.455	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1476,129,0	18	1	0	0
chr2	96604271	96604271	A	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001349262:exon16:c.T1522G:p.S508A,KANSL3:NM_001115016:exon17:c.T2128G:p.S710A,KANSL3:NM_001349260:exon17:c.T1573G:p.S525A,KANSL3:NM_001349256:exon18:c.T2206G:p.S736A,KANSL3:NM_001349257:exon18:c.T2206G:p.S736A,KANSL3:NM_001349258:exon18:c.T2200G:p.S734A,KANSL3:NM_001349259:exon18:c.T1945G:p.S649A,KANSL3:NM_001349261:exon18:c.T1522G:p.S508A	.	423	1070	28	1	0	30	0.0138249	.	.	.	2812112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0071	0.00359425	0.0076	0.0018	0.0052	0	0.0099	0.0101	0.0081	0.0057	0.0072185	1116	154602	rs116798525	0.0083	0.0083	0.0082	0.0084	0.0158	0.0082	0.0081	0.0132	0.0122	0.0016	0.0060	0.0057	0	0.0101	0.0158	0.0091	0.0084	0.0056	0.0064	0.0065	0.0065	0.0064	0.0095	0.0061	0.0060	0.0089	0.0086	0.0013	0	0.0081	0.0084	0.0004	0.0081	0.0068	0.0095	0.0062	0.0054	0.269	0.16091	T	0.227	0.25362	T	0.057	0.22878	B	0.038	0.23361	B	0.014170	0.28613	N	0.396945	1	0.81001	D	.	.	.	0.61	0.53516	T	-0.87	0.23590	N	0.103	0.08646	-1.0854	0.06335	T	0.060	0.25090	T	10	0.0054763258	0.00121	T	.	.	.	0.025	0.05312	.	.	0.365710854667	0.36188	0.1756338456002082	0.17482	0.177105754943	0.19927	0.462651818991	0.33675	T	.	.	.	-0.455082	0.01054	T	-0.418509	0.31246	T	0.00415087224318446	0.00044	T	0.594241	0.21993	T	.	.	.	.	.	.	.	.	-3.44	0.15600	T	.	.	0.071	0.03773	B	.	.	2.511508	0.32436	19.04	0.9927431583880294	0.57661	0.91974	0.54667	D	AEFDBHCIJ	0.168493	0.29525	N	-0.338168762303963	0.27709	1.522483	-0.133476696145841	0.34050	1.954389	0.999991106496403	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.779548	0.98927	0	0.733575	0.97253	0	.	.	5.94	4.8	0.61157	2.269000	0.43005	7.044000	0.57347	0.756000	0.94297	0.984000	0.35821	1.000000	0.68203	0.981000	0.58702	0.9149:0.0:0.0851:0.0	8.682	0.33375	204	0.92044	.	STARD7-AS1	Pancreas	STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|NCAPH	Adipose_Subcutaneous|Adrenal_Gland|Artery_Coronary|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Stomach|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	0	0	1	0	0.016616	0.000000	0.023098	0.011696	0.000000	0.025862	0.024390	0.000000	0.05263	4975.81	34	chr2	96604271	.	A	C	4975.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.31;SOR=0.83	GT:AD:DP:GQ:PL	1/1:0,154:154:99:5003,462,0	18	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,22:164:99:1|0:97185332_A_G:496,0,5896:97185332	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,22:169:99:1|0:97185332_A_G:481,0,6106:97185332	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,22:169:99:1|0:97185332_A_G:481,0,6106:97185332	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,22:178:99:1|0:97185332_A_G:454,0,6450:97185332	2	0	17	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90:90:99:1|1:97513219_T_C:4050,271,0:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:97513219_T_C:4120,277,0:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,111:111:99:1|1:97513244_G_T:4995,334,0:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,119:119:99:1|1:97513244_G_T:5344,358,0:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,119:119:99:1|1:97513244_G_T:5344,358,0:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,127:127:99:1|1:97513268_C_T:5674,382,0:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,129:129:99:1|1:97513268_C_T:5744,388,0:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,127:127:99:1|1:97513268_C_T:5695,382,0:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,129:129:99:1|1:97513268_C_T:5721,388,0:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:27,39:66:99:946,0,666	0	0	19	0
chr2	106424689	106424689	T	C	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A3278G:p.N1093S	.	124	1378	20	0	0	20	0.00720461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0109900991948	0.0002	.	0.0006	0	0	0	0	0.0004	0.0022	0.0028	0.0005175	80	154602	rs372584133	0.0003	0.0004	0.0002	0.0005	0.0053	0.0003	0.0003	0.0036	0.0030	2.993e-05	0.0002	0.0028	0	0	0.0053	0.0001	0.0005	0.0026	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	0	0	6.539e-05	0.0035	0	0	0.0068	0.0002	0.0009	0.0025	0.209	0.19710	T	0.378	0.24840	T	0.989	0.62824	D	0.968	0.71741	D	.	.	.	.	0.984889	0.24761	N	1.15	0.29295	L	1.03	0.40469	T	-2.78	0.58896	D	0.541	0.58202	-1.0181	0.24334	T	0.131	0.44268	T	9	0.021067947	0.00497	T	0.01099	0.28145	T	0.159	0.41286	.	.	0.0716867268079	0.06686	0.008667860909136705	0.00830	.	.	0.894022285938	0.95751	D	0.00916	0.08356	T	-0.541865	0.00327	T	-0.556055	0.16749	T	0.129021382654079	0.15291	T	0.966503	0.88196	D	0.09697732	0.22853	0.14644057	0.34693	0.09697732	0.22852	0.14644057	0.34692	-4.889	0.35611	T	.	.	0.106	0.28807	B	.;.	.;.	3.061679	0.41119	21.3	0.98910031628870443	0.48345	0.89153	0.49448	D	AEFI	0.455462	0.50774	N	0.0764076757856445	0.45364	2.794156	-0.0167841595398945	0.38956	2.302677	0.369369619047931	0.19854	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	2.35	0.28166	6.001000	0.70352	7.931000	0.75020	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:0.0:1.0	8.255	0.30912	911	0.21964	Ran binding domain|Ran binding domain|Ran binding domain;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	1	0	0	0	0	0	0	0	0	0	0	0.003645	0.000000	0.006849	0.000000	0.000000	0.017857	0.000000	0.000000	0.05263	13735.8	45	chr2	106424689	.	T	C	13735.8	.	AC=2;AF=0.053;AN=38;DP=1462;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.96;QD=32.17;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,427:427:99:13763,1282,0	18	1	0	0
chr2	106843388	106843388	G	A	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142351:exon2:c.C590T:p.S197F,ST6GAL2:NM_001142352:exon2:c.C590T:p.S197F,ST6GAL2:NM_001322362:exon2:c.C590T:p.S197F,ST6GAL2:NM_032528:exon2:c.C590T:p.S197F	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0146773956813	.	0.000199681	0.0003	0	0	0	0	0.0001	0.0011	0.0021	0.0002975	46	154602	rs528424981	0.0002	0.0002	9.121e-05	0.0002	0.0024	0.0001	0.0001	0.0016	0.0015	0	4.472e-05	7.655e-05	0	0	0.0024	4.496e-05	0.0003	0.0018	0.0001	0.0001	8.993e-05	0.0001	0.0019	7.572e-05	6.277e-05	0.0010	0.0007	0	0	6.533e-05	0.0003	0	0	0.0068	5.88e-05	0.0005	0.0019	0.2	0.20381	T	0.726	0.11515	T	0.002	0.22494	B	0.004	0.18140	B	0.040884	0.24009	N	0.470160	1	0.08975	N	1.385	0.34509	L	2.44	0.32722	T	-1.34	0.33401	N	0.175	0.18784	-1.0682	0.09813	T	0.054	0.22731	T	10	0.012376279	0.00266	T	0.014677	0.34954	T	0.036	0.09122	0.398	0.42590	0.26547132957	0.26150	0.421935847746121	0.42110	0.53814913595	0.51084	0.317902386189	0.13103	T	0.060217	0.31328	T	-0.507238	0.00520	T	-0.508652	0.21454	T	0.0236757202190498	0.01104	T	0.655934	0.26583	T	0.103871815	0.24553	0.11651733	0.28127	0.103871815	0.24553	0.11651733	0.28127	-5.788	0.44470	T	.	.	0.150	0.51394	B	.;.;.	.;.;.	2.916323	0.38697	20.8	0.97283439382756831	0.33195	0.62882	0.31917	D	AEFDGBCI	0.353782	0.44608	N	-0.21725775632088	0.32425	1.828535	-0.069618252304235	0.36653	2.135815	0.968657326036834	0.29069	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.31	4.37	0.51830	5.413000	0.66140	8.203000	0.76806	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.749000	0.35751	0.0:0.1473:0.8527:0.0	14.507	0.67342	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05263	4905.81	37	chr2	106843388	.	G	A	4905.81	.	AC=2;AF=0.053;AN=38;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.31;SOR=0.991	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4933,429,0	18	1	0	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,164:164:99:.:.:7389,498,0:.	6	3	9	1
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:113,41:161:55:55,0,2533	8	0	9	2
chr2	169182251	169182251	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon51:c.G9914A:p.R3305H	Donnai-Barrow syndrome, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	697149	Donnai-Barrow_syndrome|not_specified|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.435	.	0.0003	0.00319489	0.0032	0.0002	0.0248	0.0096	0.0003	0.0002	0.0033	0.0003	0.0031047	480	154602	rs3213760	0.0013	0.0013	0.0015	0.0012	0.0230	0.0013	0.0013	0.0218	0.0213	0.0004	0.0230	0.0017	0.0127	0.0002	0.0002	0.0002	0.0013	0.0003	0.0016	0.0016	0.0015	0.0017	0.0114	0.0014	0.0014	0.0100	0.0095	0.0001	0	0.0114	0.0014	0.0060	9.418e-05	0	0.0003	0.0024	0.0008	0.007	0.59928	D	0.004	0.74150	D	0.997	0.70673	D	0.787	0.57594	P	0.004183	0.34013	N	0.303069	0.844698	0.35123	D	2.325	0.66631	M	-4.09	0.96627	D	-3.29	0.65742	D	0.262	0.29659	0.473	0.90159	D	0.785	0.92719	D	10	0.008709729	0.00197	T	.	.	.	0.435	0.74022	.	.	0.734644564284	0.73227	0.6621995955557346	0.66156	0.944579039114	0.72368	0.301373541355	0.10605	T	0.469949	0.80327	T	-0.281804	0.10477	T	-0.158644	0.58474	T	0.0289044028211211	0.01823	T	0.79802	0.44234	T	0.11035952	0.26086	0.07962277	0.17942	0.1158959	0.27343	0.083352394	0.19094	-5.149	0.38419	T	0.5677118814046596	0.63506	0.106	0.19720	B	.;.	.;.	2.020038	0.25669	16.85	0.99772849686480314	0.86088	0.68942	0.33994	D	AEFBI	0.246583	0.36732	N	-0.025121886081504	0.40720	2.423098	-0.0832017897664596	0.36083	2.095505	0.338798587632329	0.19562	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.03	3.19	0.35720	0.637000	0.24348	0.541000	0.19334	-0.178000	0.10482	1.000000	0.71638	0.886000	0.27767	0.002000	0.04165	0.3481:0.3998:0.0:0.252	3.382	0.06835	903	0.23940	.;.	.	.	.	.	.	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	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.003106	0.000000	0.02632	1604.33	38	chr2	169182251	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.352;DP=801;ExcessHet=0;FS=6.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.488;SOR=1.21	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1618,0,1623	18	0	1	0
chr2	177875884	177875884	T	C	exonic	PDE11A	.	nonsynonymous SNV	PDE11A:NM_001077196:exon2:c.A10G:p.K4E,PDE11A:NM_001077358:exon4:c.A268G:p.K90E,PDE11A:NM_016953:exon5:c.A1342G:p.K448E,PDE11A:NM_001077197:exon6:c.A592G:p.K198E	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0118044190984	.	.	6.601e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs770808795	6.849e-05	6.977e-05	6.407e-05	7.295e-05	0.0004	5.72e-05	5.332e-05	0.0003	0.0003	0	0	0	2.52e-05	0	0.0003	4.863e-05	0.0001	0.0004	1.972e-05	1.97e-05	0	4.038e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.456	0.47320	T	0.89	0.52389	T	0.737	0.42882	P	0.324	0.41853	B	0.000001	0.84330	D	0.126561	0.999767	0.48888	D	0.185	0.09099	N	-0.1	0.73205	T	-0.28	0.11547	N	0.764	0.76203	-0.7738	0.56648	T	0.182	0.52980	T	10	0.2970218	0.47264	T	0.011804	0.29782	T	0.218	0.51265	0.437	0.48993	0.742639354551	0.74032	0.4595286924047484	0.45870	0.310549246955	0.33367	0.635275483131	0.57893	T	0.051731	0.28960	T	-0.0849637	0.38906	T	-0.0493024	0.67070	D	0.103408467619412	0.12728	T	0.921408	0.71494	D	0.23033963	0.45787	0.24440838	0.49906	0.25506657	0.48539	0.2661547	0.52456	-4.892	0.61959	T	.	.	0.115	0.29283	B	.;.;.;.	.;.;.;.	3.132672	0.42339	21.5	0.98064508654884897	0.37975	0.97497	0.75132	D	AEFI	0.827342	0.74664	D	0.0214739809848609	0.42832	2.588244	0.239707977795276	0.52066	3.384053	0.53638706055811	0.21217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.162000	0.64785	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.345	0.66218	725	0.54935	GAF domain|GAF domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2635.81	33	chr2	177875884	.	T	C	2635.81	.	AC=2;AF=0.053;AN=38;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.29;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2663,270,0	18	1	0	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08824	1518.25	38	chr2	186504215	.	G	A	1518.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,16:48:76:.:.:82,0,286:.	14	0	3	2
chr2	196319544	196319546	CTC	-	exonic	HECW2	.	nonframeshift deletion	HECW2:NM_001304840:exon7:c.276_278del:p.R92del,HECW2:NM_001348768:exon9:c.1344_1346del:p.R448del,HECW2:NM_020760:exon9:c.1344_1346del:p.R448del	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	429	1066	27	0	0	27	0.0125058	.	.	.	717986	not_provided|HECW2-related_disorder|Neurodevelopmental_disorder_with_hypotonia,_seizures,_and_absent_language	MedGen:C3661900|.|MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0035	0.0005	0.0041	0	0.0083	0.0043	0.0110	0.0010	0.00146	38	26028	rs562760525	0.0029	0.0029	0.0029	0.0029	0.0146	0.0028	0.0028	0.0121	0.0111	0.0007	0.0029	0.0023	2.519e-05	0.0087	0.0146	0.0028	0.0036	0.0012	0.0031	0.0031	0.0030	0.0032	0.0040	0.0029	0.0028	0.0036	0.0034	0.0005	0.0011	0.0039	0.0035	0	0.0089	0.0170	0.0040	0.0038	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.010101	0.013587	0.011696	0.000000	0.025862	0.006098	0.007576	0.02632	2539.29	40	chr2	196319543	.	ACTC	A	2539.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=883;ExcessHet=0;FS=8.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=0.159;SOR=1.371	GT:AD:DP:GQ:PL	0/1:75,67:142:99:2553,0,2927	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,45:115:99:.:.:350,0,1229:.	1	0	17	1
chr2	200573530	200573530	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon7:c.A3184G:p.I1062V,SGO2:NM_001160046:exon7:c.A3184G:p.I1062V,SGO2:NM_152524:exon7:c.A3184G:p.I1062V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0016650323601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.04521	T	0.952	0.02603	T	0.001	0.07471	B	0.001	0.04355	B	0.453376	0.04827	N	1.344680	1	0.08975	N	.	.	.	2.86	0.10482	T	0.17	0.05125	N	0.058	0.02964	-0.9478	0.41347	T	0.010	0.03811	T	10	0.035767198	0.01842	T	0.001665	0.02728	T	0.009	0.00846	0.209	0.12639	0.126345400529	0.12197	0.008068807138948333	0.00771	0.0538433685987	0.05949	0.268086284399	0.05893	T	0.02894	0.20850	T	-0.322787	0.06672	T	-0.701437	0.05748	T	0.0236224457621574	0.01098	T	0.381062	0.09207	T	0.013451888	0.00059	0.021192081	0.00179	0.013451888	0.00059	0.021192081	0.00179	-3.535	0.16926	T	.	.	0.082	0.08560	B	.	.	-0.435807	0.02082	0.193	0.19023985314785088	0.00624	0.01134	0.04120	N	AEGBI	0.030318	0.03028	N	-1.40080026939734	0.02632	0.1164955	-1.40667043737088	0.03184	0.1480452	5.28670766529688E-4	0.07225	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.16	-4.16	0.03606	0.179000	0.16653	0.090000	0.14504	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.335000	0.25317	0.3536:0.0:0.5043:0.1422	6.722	0.22525	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2171.33	40	chr2	200573530	.	A	G	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.952;DP=864;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.317;SOR=0.908	GT:AD:DP:GQ:PL	0/1:62,80:142:99:2185,0,1883	18	0	1	0
chr2	210441367	210441367	G	A	exonic	LANCL1	.	nonsynonymous SNV	LANCL1:NM_001136574:exon5:c.C484T:p.L162F,LANCL1:NM_001136575:exon5:c.C484T:p.L162F,LANCL1:NM_006055:exon5:c.C484T:p.L162F	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0810914469866	.	0.000998403	0.0006	9.679e-05	0	0.0082	0	0	0	0	0.0005045	78	154602	rs182044267	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	8.964e-05	0	0	0.0044	0	0	9.898e-06	0.0001	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0069	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0069	0	0	1.47e-05	0	0	0.002	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.77	0.80896	M	0.38	0.57575	T	-3.66	0.70920	D	0.862	0.85872	-0.2616	0.76044	T	0.354	0.71720	T	10	0.015193343	0.00319	T	0.081091	0.73605	D	0.405	0.71791	.	.	0.703346008949	0.70077	0.6669076643601194	0.66628	0.0456225196555	0.04953	0.608413755894	0.54092	T	0.181599	0.53333	T	-0.0480234	0.44747	T	0.165064	0.81113	D	0.159702390360528	0.17850	T	0.968503	0.88585	D	0.79054433	0.83307	0.71478325	0.83167	0.79054433	0.83309	0.71478325	0.83168	-7.052	0.54413	T	.	.	0.642	0.70605	P	.;.;.;.;.;.	.;.;.;.;.;.	5.044393	0.83977	28.2	0.99903546737340521	0.97502	0.98056	0.79226	D	AEFBI	0.564059	0.57100	D	0.791018181170668	0.85539	8.60657	0.725441137403395	0.84309	8.25663	0.226718289017342	0.18418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	3.98	0.45383	6.487000	0.73540	9.790000	0.81641	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1452:0.0:0.8548:0.0	12.286	0.54111	410	0.82135	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	954.33	34	chr2	210441367	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=737;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.526;SOR=0.673	GT:AD:DP:GQ:PL	0/1:56,45:101:99:968,0,1353	18	0	1	0
chr2	217848163	217848163	-	GCTGCTGCT	exonic	TNS1	.	nonframeshift insertion	TNS1:NM_001308022:exon16:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ,TNS1:NM_001308023:exon17:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ,TNS1:NM_022648:exon17:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0003	0.0001	0	0	4.355e-05	0	0.0120	0.0007633	118	154602	rs780034157	0.0006	0.0006	0.0003	0.0009	0.0090	0.0006	0.0006	0.0085	0.0083	0.0003	4.849e-05	0	8.305e-05	0	0	6.489e-05	0.0007	0.0090	0.0004	0.0004	0.0003	0.0006	0.0108	0.0003	0.0003	0.0085	0.0077	0.0002	0	0.0001	0	0	0	0	1.474e-05	0	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2522.29	33	chr2	217848163	.	G	GGCTGCTGCT	2522.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.279;DP=1472;ExcessHet=0;FS=4.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.73;ReadPosRankSum=-0.146;SOR=1.057	GT:AD:DP:GQ:PL	0/1:48,54:109:99:2536,0,1865	18	0	1	0
chr2	218072786	218072786	C	T	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C287T:p.T96I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0430455592828	.	.	0.0002	0	0	0	0	0	0	0.0006	1.94e-05	3	154602	rs199580808	3.2e-05	3.147e-05	2.582e-05	3.836e-05	0.0016	2.426e-05	2.161e-05	0.0008	0.0006	0	2.939e-05	4.094e-05	0	0	0.0016	1.49e-05	5.22e-05	0.0002	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000552	0.43413	D	0.000000	0.939784	0.81001	D	2.865	0.83145	M	2.11	0.19860	T	-5.38	0.85541	D	0.749	0.76481	-0.9074	0.47168	T	0.121	0.42101	T	8	0.9101268	0.90377	D	0.043046	0.60780	D	0.304	0.62510	0.823	0.93527	0.459552425292	0.45580	0.7867754855646095	0.78629	0.229937591646	0.25545	0.581452012062	0.50290	T	0.214118	0.64256	T	-0.0116104	0.50039	T	0.0390331	0.72864	D	0.68072497844696	0.39821	D	0.831217	0.49813	T	0.53888404	0.69334	0.5159955	0.72034	0.53888404	0.69335	0.5159955	0.72035	-11.752	0.83622	D	.	.	0.761	0.75543	P	.;.	.;.	4.365730	0.67173	25.1	0.99857214983433462	0.93639	0.81596	0.40968	D	AEFDBHCI	0.601184	0.59353	D	0.269183150703099	0.54594	3.624605	0.230560274178592	0.51552	3.336685	0.999745949494051	0.42466	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	3.17	0.35510	3.667000	0.54283	5.665000	0.49233	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.964000	0.52637	0.0:0.8238:0.1762:0.0	11.926	0.52107	894	0.26265	RUN domain|RUN domain;RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	42	chr2	218072786	.	C	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.496;DP=779;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.591;SOR=0.587	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1459,0,1447	18	0	1	0
chr2	218344833	218344833	G	A	exonic	PNKD	.	nonsynonymous SNV	PNKD:NM_022572:exon9:c.G938A:p.R313H,PNKD:NM_015488:exon10:c.G1010A:p.R337H	Paroxysmal nonkinesigenic dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	190882	not_provided|Paroxysmal_nonkinesigenic_dyskinesia_1|Paroxysmal_nonkinesigenic_dyskinesia	MedGen:C3661900|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117,Orphanet:98810	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.489	0.219375644293	7.7e-05	.	4.954e-05	0	0	0	0	3.006e-05	0	0.0002	4.53e-05	7	154602	rs374137801	3.352e-05	3.352e-05	2.451e-05	4.263e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	3.312e-05	0.0003	3.286e-05	3.283e-05	2.57e-05	4.036e-05	4.825e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.825e-05	0	0	0	0	0	0	4.412e-05	0	0	0.045	0.61437	D	0.06	0.50514	T	0.99	0.63424	D	0.353	0.49411	B	0.001596	0.38554	N	0.210963	0.882808	0.35786	D	2.07	0.56829	M	-3.94	0.96143	D	-2.33	0.54382	N	0.199	0.44187	0.660	0.92675	D	0.801	0.93266	D	10	0.33150783	0.50372	T	0.219376	0.87705	D	0.489	0.77656	.	.	0.940734887063	0.94012	0.3135816166384723	0.31271	0.3598936142	0.37679	0.511857032776	0.40482	T	0.691061	0.91018	D	-0.0936035	0.37480	T	-0.0359722	0.67971	D	0.282990902662277	0.24297	T	0.958704	0.85218	D	0.06281793	0.13162	0.06394471	0.12744	0.06281793	0.13162	0.06394471	0.12743	-9.231	0.69437	D	0.3440177595277742	0.44161	0.146	0.32275	B	.;.;.	.;.;.	4.781959	0.77512	26.7	0.9983008280426614	0.91198	0.66547	0.33116	D	AEFDBI	0.277606	0.39208	N	0.447077044629788	0.64037	4.649532	0.447119891374819	0.64530	4.710521	0.991964759187964	0.32671	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.81	3.79	0.42757	4.568000	0.60573	8.333000	0.76982	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3626:0.0:0.6374:0.0	3.742	0.08059	785	0.46916	Hydroxyacylglutathione hydrolase, C-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1178.33	41	chr2	218344833	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=892;ExcessHet=0;FS=4.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.16;SOR=1.179	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1192,0,1301	18	0	1	0
chr2	223959784	223959784	G	A	exonic	MRPL44	.	nonsynonymous SNV	MRPL44:NM_022915:exon2:c.G430A:p.E144K	.	428	1093	1	0	0	1	0.000457247	.	.	.	3135326	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.00876502217387	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541910635	1.71e-05	1.71e-05	1.089e-05	2.338e-05	5.974e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	5.974e-05	0	0	0	0	0	1.709e-05	1.656e-05	3.478e-05	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	1.914e-05	1.03e-05	7.218e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.248	0.17239	T	0.051	0.47828	T	0.027	0.19556	B	0.005	0.11217	B	0.000418	0.44736	D	0.252278	1	0.08975	N	1.04	0.26193	L	1.17	0.37910	T	-0.39	0.13611	N	0.218	0.24385	-1.0347	0.18951	T	0.045	0.19397	T	10	0.10770184	0.20017	T	0.008765	0.23123	T	0.092	0.26621	.	.	0.371903410333	0.36803	0.2434835533774798	0.24262	0.167181305185	0.18855	0.305670619011	0.11253	T	0.009096	0.08305	T	-0.305285	0.08170	T	-0.49477	0.22891	T	0.321717232465744	0.25892	T	0.855914	0.54393	D	0.19187944	0.40834	0.11655056	0.28135	0.19187944	0.40833	0.11655056	0.28134	-0.989	0.00987	T	0.1050193516000093	0.08278	0.102	0.18164	B	.	.	2.783455	0.36570	20.3	0.97870035740482941	0.36526	0.70570	0.34645	D	AEFDGBHIJ	0.390451	0.46927	N	-0.505379274088254	0.21905	1.165953	-0.361171341566076	0.26165	1.443479	0.999999999714753	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.616919	0.45865	0	.	.	5.7	4.81	0.61401	4.719000	0.61629	6.523000	0.55837	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.034000	0.13613	0.0843:0.0:0.9157:0.0	11.700	0.50831	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2328.33	33	chr2	223959784	.	G	A	2328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=922;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.526;SOR=0.8	GT:AD:DP:GQ:PL	0/1:117,85:202:99:2342,0,2784	18	0	1	0
chr2	230392096	230392096	C	T	exonic	SP140L	.	nonsynonymous SNV	SP140L:NM_001308163:exon10:c.C794T:p.A265V,SP140L:NM_001352894:exon10:c.C794T:p.A265V,SP140L:NM_001308162:exon11:c.C899T:p.A300V,SP140L:NM_001352893:exon11:c.C869T:p.A290V,SP140L:NM_001352892:exon12:c.C974T:p.A325V,SP140L:NM_138402:exon12:c.C974T:p.A325V	.	426	1093	2	0	1	3	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0063	0.00698882	0.0022	0.0239	0.0014	0	0	0.0001	0.0022	0.0002	0.0020246	313	154602	rs145339453	0.0007	0.0007	0.0008	0.0006	0.0235	0.0007	0.0007	0.0222	0.0216	0.0235	0.0015	0	0	0	0.0021	5.397e-05	0.0016	6.956e-05	0.0068	0.0068	0.0069	0.0068	0.0228	0.0065	0.0063	0.0216	0.0211	0.0228	0	0.0044	0	0	0	0	5.883e-05	0.0095	0	1.0	0.13131	T	1.0	0.19480	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.915	0.00232	N	-0.47	0.72568	T	1.09	0.49018	N	0.035	0.13198	-1.0070	0.27850	T	0.028	0.12058	T	9	0.008670807	0.00196	T	.	.	.	0.034	0.08419	.	.	0.16115917748	0.15686	0.06319088419212764	0.06258	0.0574924983243	0.06368	0.251217365265	0.03897	T	0.055544	0.50181	T	-0.610534	0.00126	T	-0.631513	0.10301	T	0.000728469967532468	0.00007	T	0.0523948	0.00375	T	0.014533886	0.00097	0.028864464	0.01164	0.014533886	0.00097	0.028864464	0.01164	0.277	0.00264	T	.	.	0.066	0.17189	B	.;.;.;.	.;.;.;.	-1.208368	0.00522	0.012	0.12215511254036035	0.00206	0.00188	0.01093	N	AEFBI	0.014226	0.00218	N	-1.80328977363254	0.00537	0.02312534	-1.76864528162402	0.00865	0.03866182	0.00759445606339083	0.11502	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	3.16	-2.67	0.05703	-1.754000	0.01915	-8.287000	0.00995	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4199:0.2495:0.0:0.3306	2.707	0.04844	958	0.09170	.;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND 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	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2575.33	38	chr2	230392096	.	C	T	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=1348;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=-1.432;QD=12.56;ReadPosRankSum=-0.167;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,101:205:99:0|1:230392096_C_T:2589,0,2561:230392096	18	0	1	0
chr2	232381292	232381292	G	A	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon10:c.G1234A:p.V412I	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	.	0.0028	0.00259585	0.0012	0.0132	0.0008	0	0	4.599e-05	0.0011	6.105e-05	0.0007684	20	26028	rs139149878	0.0004	0.0005	0.0005	0.0004	0.0134	0.0004	0.0004	0.0123	0.0119	0.0134	0.0008	0	0	0	0.0031	7.644e-05	0.0010	5.798e-05	0.0032	0.0032	0.0034	0.0029	0.0108	0.0029	0.0028	0.0100	0.0096	0.0108	0	0.0014	0	0	0	0.0068	7.352e-05	0.0024	0	0.064	0.36509	T	0.057	0.46406	T	0.037	0.20876	B	0.154	0.34351	B	0.010084	0.30071	N	0.342605	0.999997	0.08975	N	-0.655	0.02084	N	-4.05	0.96496	D	-0.24	0.10833	N	0.101	0.08366	-0.1668	0.78505	T	0.571	0.84481	D	10	0.011789709	0.00256	T	.	.	.	0.289	0.60808	.	.	0.901405453299	0.90042	0.649274653449852	0.64863	1.68168134764	0.89993	0.447175502777	0.31558	T	0.322244	0.69327	T	-0.392372	0.02597	T	-0.326004	0.41913	T	0.011362997135056	0.00169	T	0.855114	0.54241	D	0.09273838	0.21764	0.03932294	0.03997	0.09273838	0.21764	0.03932294	0.03997	-5.873	0.45204	T	.	.	0.102	0.17995	B	.	.	1.517389	0.19483	14.29	0.96531965892588489	0.30154	0.01003	0.03794	N	AEFDGBI	0.021568	0.00974	N	-1.12479293206611	0.06204	0.2849942	-1.20333415426079	0.05856	0.280221	0.0215765341547969	0.13360	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.35	-0.536	0.11282	1.500000	0.35290	0.049000	0.13974	0.373000	0.20310	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4906:0.0:0.1834:0.326	3.389	0.06858	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007878	0.000000	0.016304	0.007752	0.000000	0.000000	0.000000	0.003788	0.02632	2424.33	38	chr2	232381292	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=1126;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.7;MQRankSum=1.24;QD=10.63;ReadPosRankSum=0.625;SOR=0.798	GT:AD:DP:GQ:PL	0/1:130,98:228:99:2438,0,3028	18	0	1	0
chr2	232794835	232794835	A	C	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon12:c.A1352C:p.N451T,GIGYF2:NM_001103146:exon13:c.A1370C:p.N457T,GIGYF2:NM_001103147:exon15:c.A1433C:p.N478T,GIGYF2:NM_015575:exon15:c.A1370C:p.N457T	.	0	1521	1	0	0	1	0.000328623	.	.	.	15793	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	0.026	0.0184111286572	0.0009	0.000199681	0.0004	0	8.654e-05	0	0.0002	0.0007	0	0	0.0003363	52	154602	rs116074753	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0005	0.0005	8.963e-05	0.0002	0	0	7.488e-05	0.0010	0.0006	0.0004	2.319e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0003	0	0	0	0.0034	0.0006	0.0005	0	0.322	0.15251	T	0.408	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.811671	0.09246	N	0.923124	4.18469e-09	0.08975	A	.	.	.	-0.63	0.73631	T	-0.41	0.16598	N	0.127	0.14480	-0.9526	0.40520	T	0.151	0.47944	T	9	0.06393552	0.08405	T	0.018411	0.40464	T	0.026	0.05648	.	.	0.263709349026	0.25991	0.11088330912890412	0.11017	0.334707703219	0.35486	0.254237294197	0.04227	T	0.104564	0.41425	T	-0.4864	0.00680	T	-0.559402	0.16432	T	0.0124804763098086	0.00206	T	0.716128	0.32863	T	0.022252588	0.00876	0.026784616	0.00787	0.028199896	0.02121	0.03795557	0.03559	-0.974	0.01018	T	.	.	0.060	0.04681	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.423911	0.07943	4.654	0.87452160033640924	0.17238	0.05969	0.11929	N	AEFBI	0.039484	0.05742	N	-1.10976370167432	0.06469	0.2978622	-1.10107406101474	0.07680	0.3745253	0.386227817360765	0.20005	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	-3.72	0.04125	-0.758000	0.04872	-0.715000	0.07732	0.756000	0.94297	0.004000	0.16614	0.000000	0.08366	0.999000	0.91618	0.6372:0.1242:0.1421:0.0965	5.405	0.15616	883	0.28872	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1457.33	33	chr2	232794835	.	A	C	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=742;ExcessHet=0;FS=7.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.644;SOR=1.269	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1471,0,1631	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,65:154:99:0|1:232847516_CACA_C:2324,0,3415:232847516	6	3	10	0
chr2	233672196	233672196	C	T	exonic	UGT1A9	.	nonsynonymous SNV	UGT1A9:NM_021027:exon1:c.C262T:p.R88W	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0244567501446	0.0006	.	0.0004	0.0003	0	0	0	0.0006	0	0.0002	0.0004334	67	154602	rs143487779	0.0011	0.0011	0.0011	0.0010	0.0013	0.0010	0.0010	0.0013	0.0012	0.0002	2.236e-05	0	0	0	0.0003	0.0013	0.0015	0.0002	0.0006	0.0006	0.0008	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	0.0002	0	0	0	0	0	0	0.0012	0	0.0002	0.018	0.50676	D	0.015	0.61642	D	0.998	0.73220	D	0.791	0.57754	P	.	.	.	.	1	0.08975	N	2.535	0.73915	M	0.08	0.61559	T	-3.02	0.62630	D	0.299	0.33796	-0.8637	0.50995	T	0.227	0.59171	T	9	0.125698	0.23889	T	0.024457	0.47448	T	0.169	0.43123	.	.	0.712338906145	0.70982	0.20609863756821378	0.20526	0.05320953922	0.05865	.	.	.	0.56046	0.85277	D	-0.42788	0.01527	T	-0.393872	0.34100	T	0.0713640483785221	0.08841	T	0.759324	0.38363	T	0.19306067	0.41000	0.101140395	0.24205	0.19306067	0.41000	0.101140395	0.24204	-7.471	0.57406	T	0.21704321447805314	0.29205	0.139	0.30450	B	.	.	2.479328	0.31965	18.90	0.99681774993642613	0.79307	0.10005	0.15628	N	AEFDI	0.452358	0.50594	N	-0.37224286808607	0.26462	1.444412	-0.596817369877486	0.19576	1.050893	0.990081848738085	0.32033	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.45	1.34	0.21018	-1.915000	0.01669	-2.713000	0.03439	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4434:0.5566:0.0	10.291	0.42777	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3578.33	40	chr2	233672196	.	C	T	3578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=1104;ExcessHet=0;FS=4.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.655;SOR=0.916	GT:AD:DP:GQ:PL	0/1:198,139:337:99:3592,0,4922	18	0	1	0
chr3	9906996	9906996	C	T	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_153481:exon4:c.C214T:p.R72W,IL17RE:NM_001193380:exon6:c.C562T:p.R188W,IL17RE:NM_153480:exon6:c.C562T:p.R188W,IL17RE:NM_153483:exon7:c.C682T:p.R228W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0248767714717	7.7e-05	.	2.472e-05	0	0	0	0	2.998e-05	0	6.056e-05	1.94e-05	3	154602	rs373337717	1.026e-05	1.026e-05	1.225e-05	8.25e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	4.55e-06	0	4.472e-05	0	0	0	0	1.079e-05	0	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.83e-05	5.24e-06	2.45e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.967	0.80445	D	0.024936	0.26177	N	0.388255	1	0.08975	N	1.935	0.51832	L	2.38	0.15843	T	-4.32	0.92980	D	0.548	0.61002	-1.0529	0.13601	T	0.103	0.37869	T	10	0.30455527	0.47980	T	0.024877	0.47865	T	0.099	0.28413	.	.	0.583146274015	0.57986	0.5142960138391185	0.51352	.	.	0.269913524389	0.06130	T	0.03741	0.24464	T	-0.187141	0.22680	T	-0.330744	0.41386	T	0.805438876152039	0.46727	D	0.905309	0.67324	D	0.2715812	0.50229	0.28655788	0.54665	0.2715812	0.50229	0.28655788	0.54664	-6.718	0.51946	T	.	.	0.183	0.51341	B	.;.;.;.	.;.;.;.	4.362547	0.67097	25.1	0.99910467875202769	0.98022	0.51899	0.29004	D	AEFBI	0.220939	0.34562	N	0.339580927587869	0.58191	3.990062	0.245039884538833	0.52368	3.412058	0.997823896876825	0.36074	0.615465	0.37627	0	0.573078	0.20572	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.7	3.71	0.41733	1.422000	0.34434	2.313000	0.32088	0.599000	0.40250	0.796000	0.29669	0.905000	0.28034	0.933000	0.47100	0.2903:0.7097:0.0:0.0	13.734	0.62289	671	0.60868	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal;.;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3938.81	37	chr3	9906996	.	C	T	3938.81	.	AC=2;AF=0.053;AN=38;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.67;SOR=1.65	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3966,351,0	18	1	0	0
chr3	11298742	11298742	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001136031:exon2:c.C47T:p.A16V,ATG7:NM_001144912:exon2:c.C47T:p.A16V,ATG7:NM_001349236:exon2:c.C47T:p.A16V,ATG7:NM_001349237:exon2:c.C47T:p.A16V,ATG7:NM_006395:exon2:c.C47T:p.A16V,ATG7:NM_001349233:exon3:c.C47T:p.A16V,ATG7:NM_001349234:exon3:c.C47T:p.A16V,ATG7:NM_001349235:exon3:c.C47T:p.A16V,ATG7:NM_001349232:exon4:c.C47T:p.A16V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00255007878281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.888	0.18732	T	0.008	0.15535	B	0.014	0.16862	B	0.000000	0.84330	D	0.000000	0.997736	0.46519	D	1.235	0.30780	L	0.77	0.49642	T	-1.46	0.40274	N	0.282	0.32148	-1.0559	0.12803	T	0.092	0.35174	T	10	0.19337314	0.35104	T	0.00255	0.05121	T	0.093	0.26882	0.358	0.36060	0.635043139505	0.63204	0.44623286879870006	0.44541	0.266350073935	0.29174	0.688198685646	0.65446	T	0.098627	0.49805	T	-0.13711	0.30351	T	-0.434725	0.29399	T	0.283799648284912	0.24331	T	0.943906	0.78806	D	0.092977695	0.21827	0.11605896	0.28018	0.092977695	0.21826	0.11605896	0.28018	-5.847	0.44982	T	.	.	0.088	0.47094	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.545915	0.49826	22.8	0.93860112084066916	0.23865	0.90082	0.50985	D	AEFBI	0.210225	0.33614	N	-0.030613411087642	0.40473	2.404101	0.195988603805205	0.49625	3.163594	0.999998316606923	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	2.224000	0.42587	4.849000	0.45357	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.997000	0.79791	0.0:0.8596:0.0:0.1404	10.776	0.45553	655	0.62421	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;.;.;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2830.81	33	chr3	11298742	.	C	T	2830.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.44;SOR=0.852	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2858,279,0	18	1	0	0
chr3	14158042	14158042	A	G	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.T1262C:p.F421S,XPC:NM_001354727:exon9:c.T1841C:p.F614S,XPC:NM_001354729:exon9:c.T1823C:p.F608S,XPC:NM_004628:exon9:c.T1841C:p.F614S	Xeroderma pigmentosum, group C, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	139230	Xeroderma_pigmentosum,_group_C|not_provided|not_specified	MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0065	0.00738818	0.0019	0.0212	0.0008	0	0	4.526e-05	0	6.449e-05	0.0018176	281	154602	rs144766677	0.0007	0.0007	0.0008	0.0006	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0011	0	0	0	0.0012	3.356e-05	0.0020	1.161e-05	0.0066	0.0066	0.0069	0.0062	0.0234	0.0063	0.0061	0.0222	0.0217	0.0234	0	0.0011	0	0	0	0	5.881e-05	0.0057	0	0.847	0.02760	T	0.533	0.10000	T	0.013	0.16609	B	0.012	0.16012	B	0.572730	0.11222	N	0.827429	1	0.08975	N	1.76	0.45711	L	2.08	0.20255	T	-0.69	0.19720	N	0.083	0.05929	-0.9653	0.38151	T	0.021	0.08639	T	10	0.0030424297	0.00050	T	.	.	.	0.028	0.06331	.	.	0.0716867268079	0.06686	0.6015973904220197	0.60090	0.229049300073	0.25467	0.269284456968	0.06048	T	0.05879	0.30939	T	-0.555908	0.00269	T	-0.552375	0.17099	T	0.00102658063608188	0.00010	T	0.506149	0.16021	T	0.082294576	0.18951	0.05861703	0.10860	0.082294576	0.18951	0.05861703	0.10860	-7.209	0.55546	T	0.4990513869816032	0.57458	0.087	0.11366	B	.	.	1.175766	0.15656	12.01	0.31485855820675596	0.01777	0.28305	0.23518	N	AEFDBCI	0.159790	0.28564	N	-1.12517299757964	0.06199	0.2846834	-1.15883103892698	0.06611	0.3187755	0.999504240481636	0.40062	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.59	0.101	0.13823	0.890000	0.27931	1.031000	0.23480	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.4012:0.2451:0.0:0.3537	6.711	0.22466	789	0.46346	Rad4/PNGase transglutaminase-like fold	.	.	.	.	.	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	0.003525	0.000000	0.012228	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2462.81	37	chr3	14158042	.	A	G	2462.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.69;SOR=2.472	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2490,213,0	18	1	0	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,34:182:99:0|1:15003967_C_G:103,0,4516:15003967	8	0	11	0
chr3	38009974	38009974	T	G	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon8:c.A1280C:p.H427P,PLCD1:NM_006225:exon8:c.A1217C:p.H406P	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	3470864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0197469712698	0.0003	.	0.0002	0.0002	8.906e-05	0	0	0.0002	0.0036	0.0006	0.0001876	29	154602	rs140647901	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0006	0.0005	8.961e-05	0.0003	0	0	0	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.712e-05	0.0003	0.0002	4.811e-05	0	0.0004	0	0	0	0	0.0002	0	0.0008	0.152	0.24468	T	0.258	0.23231	T	0.021	0.18474	B	0.049	0.25116	B	0.274165	0.15069	N	0.693413	1	0.08975	N	1.895	0.50365	L	-0.01	0.62762	T	-1.27	0.35597	N	0.283	0.32037	-0.9604	0.39106	T	0.140	0.45997	T	10	0.041179866	0.02750	T	0.019747	0.42191	T	0.079	0.23065	.	.	0.588622743037	0.58537	0.7668173869665917	0.76630	0.349500434729	0.36803	0.252739071846	0.04061	T	0.228822	0.59448	T	-0.337277	0.05578	T	-0.354659	0.38670	T	0.00804982851469434	0.00095	T	0.882612	0.60317	D	0.51910573	0.68208	0.2562887	0.51326	0.51910573	0.68209	0.2562887	0.51325	-9.127	0.70616	D	0.36808649656872655	0.46389	0.279	0.54897	B	.;.	.;.	0.230731	0.06121	2.565	0.6040298910818257	0.06455	0.12630	0.17385	N	AEFDBCI	0.114769	0.22594	N	-1.0660771257315	0.07276	0.3374992	-1.08956448636001	0.07904	0.386416	0.999947977805295	0.47345	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.92	1.03	0.19161	-0.252000	0.08825	-0.509000	0.08757	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3362:0.1644:0.4993	5.280	0.14982	573	0.70213	.;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X 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	.	.	.	.	.	.	.	.	0.02632	1313.33	40	chr3	38009974	.	T	G	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=796;ExcessHet=0;FS=2.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.064;SOR=1.032	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1327,0,1556	18	0	1	0
chr3	38274346	38274349	CACC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_456del:p.T152Sfs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	251.47	33	chr3	38274345	.	GCACC	G	251.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.778;DP=1269;ExcessHet=0.3672;FS=140.054;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.67;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,30:216:46:0|1:38274345_GCACC_G:46,0,7160:38274345	17	0	2	0
chr3	38274346	38274346	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	718.62	33	chr3	38274346	.	C	*	718.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.141;DP=1459;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=3.59;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,30:216:46:0|1:38274345_GCACC_G:46,0,7160:38274345	16	0	3	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	683.62	33	chr3	38274348	.	C	*	683.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,30:216:46:0|1:38274345_GCACC_G:46,0,7160:38274345	16	0	3	0
chr3	38274349	38274349	-	GGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insGGGG:p.L153Gfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	CGGGG	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,30:211:61:0|1:38274345_GCACC_G:61,0,7015:38274345	18	0	1	0
chr3	39266436	39266436	T	C	exonic	CX3CR1	.	nonsynonymous SNV	CX3CR1:NM_001171171:exon2:c.A74G:p.D25G,CX3CR1:NM_001171172:exon2:c.A74G:p.D25G,CX3CR1:NM_001171174:exon2:c.A170G:p.D57G,CX3CR1:NM_001337:exon2:c.A74G:p.D25G	.	427	1079	16	0	0	16	0.00735971	.	.	.	698076	CX3CR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.045589990427	0.0009	0.00159744	0.0018	0.0004	0.0011	0.0001	0.0005	0.0017	0.0033	0.0049	0.0019211	297	154602	rs139019894	0.0017	0.0017	0.0016	0.0019	0.0061	0.0017	0.0017	0.0046	0.0045	0.0002	0.0008	0.0005	0	0.0005	0.0061	0.0017	0.0016	0.0050	0.0017	0.0018	0.0018	0.0017	0.0035	0.0016	0.0015	0.0022	0.0018	0.0004	0.0835	0.0006	0.0006	0	0.0003	0.0034	0.0021	0.0014	0.0035	0.323	0.20230	T	0.324	0.22291	T	0.748	0.43202	P	0.314	0.41528	B	0.001844	0.37840	N	0.288099	0.973387	0.40183	D	2.16	0.60381	M	-0.23	0.67011	T	-2.01	0.61284	N	0.156	0.16447	-0.6697	0.61842	T	0.235	0.60173	T	10	0.0067985356	0.00154	T	0.04559	0.62052	D	0.243	0.54921	.	.	0.87347482101	0.87224	0.45125566082470925	0.45043	0.915994666327	0.71242	0.367373347282	0.20453	T	0.242901	0.61174	T	-0.338096	0.05522	T	-0.257612	0.49063	T	0.037596380330805	0.03260	T	0.768023	0.39669	T	0.20018595	0.41985	0.1535245	0.36072	0.20018595	0.41985	0.1535245	0.36072	-6.789	0.52878	T	.	.	0.241	0.53709	B	.;.;.;.;.;.	.;.;.;.;.;.	1.797848	0.22853	15.79	0.97595132944791785	0.34814	0.99225	0.93076	D	AEFGBI	0.696385	0.65474	D	0.106768863302816	0.46777	2.913044	0.116353122033283	0.45383	2.802575	0.999999996952366	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	5.39	0.77615	2.443000	0.44540	4.165000	0.42235	0.665000	0.62972	0.137000	0.23458	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.0:1.0	14.227	0.65413	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.008621	0.015244	0.007576	0.02632	1768.33	37	chr3	39266436	.	T	C	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.858;DP=781;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.242;SOR=0.622	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1782,0,1627	18	0	1	0
chr3	40044263	40044263	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284425:exon3:c.G194A:p.S65N	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0122810275619	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs143190306	0.0002	0.0002	0.0002	0.0002	0.0099	0.0002	0.0002	0.0078	0.0071	0.0003	0.0006	0	0	1.872e-05	0.0099	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	9.139e-05	7.696e-05	0.0001	8.876e-05	2.404e-05	0	0.0003	0	0	0	0.0068	0.0002	0	0.0002	0.025	0.47320	D	0.296	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.97	0.22067	T	0.23	0.04613	N	0.293	0.33140	-1.0743	0.08493	T	0.035	0.14857	T	7	0.047712415	0.04125	T	0.012281	0.30711	T	0.018	0.03083	.	.	0.240491677333	0.23641	.	.	.	.	.	.	.	.	.	.	-0.31371	0.07425	T	-0.334366	0.40982	T	0.0220483418210576	0.00915	T	0.332367	0.07003	T	.	.	.	.	.	.	.	.	-5.395	0.40871	T	.	.	0.197	0.41873	B	.	.	0.667958	0.10363	7.091	0.98435108797201221	0.41442	0.84359	0.43441	D	AEFBCI	0.202345	0.32894	N	-0.0748753413632162	0.38498	2.255639	0.0605489899286033	0.42585	2.578265	0.99990450012971	0.45458	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	3.71	0.41733	3.717000	0.54640	3.689000	0.39491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1747:0.0:0.8253:0.0	9.225	0.36559	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	1725.33	42	chr3	40044263	.	G	A	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.494;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.073;SOR=0.735	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1739,0,1624	18	0	1	0
chr3	44932942	44932942	T	C	exonic	ZDHHC3	.	nonsynonymous SNV	ZDHHC3:NM_001349376:exon6:c.A659G:p.H220R,ZDHHC3:NM_016598:exon6:c.A659G:p.H220R,ZDHHC3:NM_001349378:exon7:c.A437G:p.H146R	.	423	1066	32	1	0	34	0.0156971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0101	0.00798722	0.0071	0.0116	0.0080	0	0.0030	0.0086	0.0099	0.0027	0.0073026	1129	154602	rs147965604	0.0076	0.0076	0.0078	0.0075	0.0293	0.0075	0.0075	0.0257	0.0243	0.0135	0.0087	0.0190	5.038e-05	0.0029	0.0293	0.0078	0.0097	0.0028	0.0089	0.0089	0.0093	0.0086	0.0130	0.0085	0.0084	0.0121	0.0117	0.0130	0.0099	0.0095	0.0179	0.0002	0.0023	0.0476	0.0077	0.0133	0.0025	0.065	0.36310	T	0.44	0.13328	T	.	.	.	.	.	.	0.705819	0.10055	N	0.850968	1	0.08975	N	.	.	.	1.19	0.37578	T	-0.48	0.15379	N	0.311	0.35088	-1.0314	0.20002	T	0.026	0.11043	T	10	0.003359139	0.00058	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	.	.	0.633772817613	0.57261	0.343545198441	0.16967	T	.	.	.	-0.657484	0.00065	T	-0.706176	0.05494	T	0.00178245243419207	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	-3.03	0.10508	T	.	.	0.056	0.00436	B	.	.	-0.134882	0.03438	0.631	0.70780664795059445	0.09408	0.07641	0.13649	N	AEFDBI	0.071916	0.14335	N	-1.20182301635428	0.04973	0.2256664	-1.24089317232467	0.05268	0.2505639	0.987531395176155	0.31287	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.9	-1.89	0.07271	0.299000	0.18892	-6.439000	0.01398	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.523000	0.29544	0.1574:0.3711:0.0:0.4715	4.339	0.10541	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031219	0.025253	0.046196	0.049708	0.000000	0.034483	0.021341	0.000000	0.02632	1326.33	33	chr3	44932942	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=715;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.753;SOR=1.017	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1340,0,1015	18	0	1	0
chr3	47002699	47002699	A	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon32:c.A5254T:p.T1752S,NBEAL2:NM_015175:exon33:c.A5356T:p.T1786S	Gray platelet syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	294961	NBEAL2-related_disorder|Gray_platelet_syndrome	.|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00924260263153	8e-05	0.000399361	0.0005	0	0	0.0023	0	0.0005	0	0.0002	0.0002329	36	154602	rs373627201	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0	0	0.0035	0.0010	0	0	6.313e-05	0.0004	0.0002	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	6.532e-05	0.0049	0.0027	0	0	0.0001	0	0.0008	0.827	0.02906	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.117661	0.02696	N	1.676290	1	0.08975	N	-0.895	0.01383	N	0.52	0.55266	T	0.61	0.02480	N	0.046	0.01825	-0.9937	0.31643	T	0.045	0.19518	T	10	0.00289917	0.00046	T	0.009243	0.24272	T	0.016	0.02506	.	.	0.318133320967	0.31420	0.10148668507596915	0.10079	0.169426523582	0.19097	0.426373720169	0.28713	T	0.130766	0.45986	T	-0.648468	0.00074	T	-0.707621	0.05419	T	0.00389594801580501	0.00041	T	0.080392	0.00592	T	0.013541815	0.00062	0.02477482	0.00503	0.013541815	0.00062	0.02477482	0.00503	-2.508	0.05836	T	0.08648505640593106	0.04984	0.070	0.03301	B	.	.	-0.503703	0.01855	0.150	0.19791864858284372	0.00684	0.12405	0.17248	N	AEFDBHCI	0.058594	0.11005	N	-2.20327692405933	0.00075	0.003226859	-2.1498290805972	0.00145	0.006371974	0.999999999975069	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	5.06	-4.6	0.03148	-0.331000	0.07958	0.131000	0.15046	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3593:0.0:0.4881:0.1526	6.226	0.19919	25	0.98345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.009091	0.000000	0.000000	0.02632	2430.33	43	chr3	47002699	.	A	T	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=898;ExcessHet=0;FS=1.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.632;SOR=0.857	GT:AD:DP:GQ:PL	0/1:69,80:149:99:2444,0,1829	18	0	1	0
chr3	48424601	48424601	A	G	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.T11C:p.L4P,PLXNB1:NM_002673:exon3:c.T11C:p.L4P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0121084153014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984148790	8.656e-06	8.893e-06	8.545e-06	8.77e-06	1.112e-05	4.62e-06	3.65e-06	5.93e-06	4.68e-06	0	0	0	0	0	0	1.112e-05	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.078	0.33923	T	0.118	0.36233	T	0.031	0.20130	B	0.011	0.15521	B	0.574553	0.11205	N	0.726069	0.80466	0.58761	D	1.59	0.40313	L	3.85	0.03675	T	-1.56	0.37759	N	0.274	0.32921	-0.9108	0.46756	T	0.007	0.02399	T	10	0.14534447	0.27571	T	0.012108	0.30386	T	0.097	0.27909	0.344	0.33788	0.321115633427	0.31720	0.774458562172351	0.77395	0.501532870558	0.48536	0.752530813217	0.74820	T	0.171921	0.52022	T	-0.163963	0.26151	T	-0.453026	0.27363	T	0.23974901827221	0.22408	T	0.605339	0.22755	T	0.5103463	0.67699	0.37631115	0.62755	0.5103463	0.67700	0.37631115	0.62755	-3.696	0.19925	T	.	.	0.089	0.13550	B	.;.;.	.;.;.	3.817084	0.55095	23.6	0.9742320954701239	0.33885	0.72932	0.35683	D	AEFBCI	0.299369	0.40844	N	-0.398740772545438	0.25513	1.385551	-0.243221282342464	0.30005	1.685762	0.999926601660703	0.46280	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.655142	0.61905	0	.	.	4.12	2.96	0.33383	3.751000	0.54882	6.139000	0.54026	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.821000	0.38685	0.8041:0.0:0.1959:0.0	6.250	0.20047	15	0.98792	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	33	chr3	48424601	.	A	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.774;DP=732;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-0.669;SOR=1.195	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1144,0,863	18	0	1	0
chr3	49013626	49013626	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G2014A:p.G672S,WDR6:NM_001320547:exon2:c.G1939A:p.G647S,WDR6:NM_018031:exon2:c.G2092A:p.G698S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00856076383831	0.0013	0.00179712	0.0012	0	0	0.0015	0.0029	0.0013	0.0022	0.0012	0.0011966	185	154602	rs142396671	0.0015	0.0015	0.0015	0.0015	0.0016	0.0015	0.0014	0.0016	0.0015	0.0002	0.0001	0	0.0016	0.0034	0.0002	0.0016	0.0008	0.0012	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0015	0.0013	0.0001	0	0	0	0.0025	0.0041	0	0.0017	0.0014	0.0017	0.505	0.07619	T	0.861	0.03399	T	0.0	0.07471	B	0.001	0.13708	B	0.002104	0.37227	N	0.331029	0.970985	0.26797	N	0.23	0.09627	N	-0.35	0.74159	T	-0.98	0.25986	N	0.099	0.08506	-1.0574	0.12414	T	0.126	0.43174	T	10	0.006213665	0.00140	T	0.008561	0.22631	T	0.093	0.26882	.	.	0.529311486226	0.52578	0.4188522927932348	0.41801	0.206106104933	0.23033	0.440957605839	0.30708	T	0.02615	0.28139	T	-0.476241	0.00778	T	-0.486943	0.23712	T	0.0057678345095615	0.00063	T	0.723528	0.33942	T	0.035037883	0.04047	0.073364705	0.15934	0.029757258	0.02524	0.08170301	0.18588	-4.255	0.27541	T	.	.	0.074	0.07507	B	.;.;.;.;.	.;.;.;.;.	2.252719	0.28777	17.91	0.8762941690110263	0.17365	0.64078	0.32291	D	AEFBCI	0.322724	0.42513	N	-0.426763623525616	0.24535	1.325446	-0.205488043315911	0.31339	1.772606	0.999996344650136	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	3.33	0.37245	1.837000	0.38841	6.933000	0.56965	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.1651:0.144:0.2703:0.4206	0.796	0.00999	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1398.33	35	chr3	49013626	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=888;ExcessHet=0;FS=1.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-2.731;SOR=0.785	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1412,0,2190	18	0	1	0
chr3	49718211	49718211	-	GCGGCGGCAGCGGCAGGCACG	exonic	AMIGO3	.	nonframeshift insertion	AMIGO3:NM_198722:exon1:c.1254_1255insCGTGCCTGCCGCTGCCGCCGC:p.R418_W419insRACRCRR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.732e-05	0.0012	0	7.858e-05	0	6.172e-05	3.84e-05	1	26028	rs757049755	5.211e-05	5.204e-05	6e-05	4.413e-05	0.0004	4.268e-05	3.897e-05	0.0002	0.0002	0	2.238e-05	0.0002	0.0004	1.914e-05	0	3.599e-05	8.294e-05	0.0001	7.883e-05	7.879e-05	6.427e-05	9.406e-05	0.0012	4.496e-05	3.512e-05	0.0005	0.0003	0	0	0	0.0003	0.0012	0	0	4.411e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1451.29	35	chr3	49718211	.	A	AGCGGCGGCAGCGGCAGGCACG	1451.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=0.068;SOR=0.682	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1465,0,1375	18	0	1	0
chr3	50608381	50608381	C	T	exonic	CISH	.	nonsynonymous SNV	CISH:NM_145071:exon2:c.G233A:p.R78Q,CISH:NM_013324:exon3:c.G284A:p.R95Q	.	410	1109	3	0	0	3	0.00135074	.	.	.	734170	not_provided|CISH-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.173	.	0.0002	0.00279553	0.0007	0	0	0.0070	0	0.0004	0	0.0004	0.000705	109	154602	rs148162012	0.0005	0.0005	0.0005	0.0005	0.0110	0.0005	0.0005	0.0102	0.0098	0	4.754e-05	0.0039	0.0110	0	0	0.0001	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0108	0.0005	0.0005	0.0085	0.0077	0	0	6.533e-05	0.0052	0.0108	9.409e-05	0	0.0002	0	0.0012	0.211	0.23905	T	0.374	0.16280	T	0.474	0.36620	P	0.056	0.26147	B	0.001454	0.38980	N	0.270973	0.99837	0.44834	D	2.045	0.56016	M	0.95	0.43279	T	-0.29	0.11728	N	0.409	0.44952	-1.0408	0.17071	T	0.047	0.20077	T	10	0.008878231	0.00201	T	.	.	.	0.173	0.43840	.	.	0.507748507896	0.50414	0.33194288116426274	0.33107	0.444199936278	0.44336	0.627451002598	0.56784	T	0.043297	0.26455	T	-0.446628	0.01182	T	-0.4092	0.32318	T	0.0521514234120675	0.05873	T	0.846915	0.52723	T	0.10873826	0.25710	0.08687597	0.20157	0.10873826	0.25710	0.08687597	0.20157	-2.912	0.09264	T	.	.	0.098	0.18164	B	.;.	.;.	3.402400	0.47155	22.4	0.99805905586378874	0.88995	0.91815	0.54322	D	AEFBCI	0.416505	0.48493	N	0.0747070626100613	0.45285	2.787593	0.248532177086461	0.52566	3.430639	0.999999997210691	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	3.433000	0.52597	3.844000	0.40055	0.599000	0.40250	0.987000	0.36337	0.999000	0.35428	0.995000	0.73285	0.0:1.0:0.0:0.0	20.177	0.98183	9	0.99126	.;CIS, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1367.33	40	chr3	50608381	.	C	T	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=839;ExcessHet=0;FS=5.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.194;SOR=1.246	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1381,0,1670	18	0	1	0
chr3	52229932	52229932	G	A	exonic	TWF2	.	nonsynonymous SNV	TWF2:NM_007284:exon7:c.C748T:p.L250F	.	413	1108	0	1	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0597093969895	.	0.000798722	0.0003	0	0	0.0021	0.0003	0.0001	0.0011	0.0007	0.000304	47	154602	rs114956852	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0031	0.0029	0	0	0	0.0036	0.0002	0	6.569e-05	0.0004	0.0005	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0	0	0.0041	0.0003	0	0.0001	0.0005	0.0012	0.076	0.34269	T	0.104	0.50226	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	0.999579	0.47641	D	2.11	0.58565	M	1.14	0.38397	T	-2.13	0.48354	N	0.638	0.67995	-1.0366	0.18357	T	0.069	0.28280	T	9	0.035268128	0.01767	T	0.059709	0.67757	D	0.166	0.42578	.	.	0.57016763796	0.56682	0.3182430016360264	0.31737	0.359210506715	0.37617	0.699607074261	0.67086	T	0.359692	0.72605	T	-0.272249	0.11508	T	-0.182858	0.56258	T	0.0585186945837101	0.06934	T	0.971703	0.89738	D	0.11959023	0.28157	0.112725966	0.27200	0.11959023	0.28157	0.112725966	0.27199	-10.593	0.77380	D	.	.	0.226	0.45798	B	.;.	.;.	3.727352	0.53295	23.3	0.99858414765134484	0.93729	0.98387	0.82258	D	AEFDBI	0.625184	0.60848	D	-0.00690446045033224	0.41542	2.486675	0.00497587016708748	0.39945	2.376234	0.999999771922814	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	3.959000	0.56451	5.819000	0.50068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.165:0.0:0.835:0.0	9.024	0.35377	154	0.93967	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain;Actin-depolymerising factor 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	0.002523	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	4088.81	37	chr3	52229932	.	G	A	4088.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.45;SOR=1.591	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4116,377,0	18	1	0	0
chr3	52534625	52534625	T	C	exonic	NT5DC2	.	nonsynonymous SNV	NT5DC2:NM_022908:exon1:c.A29G:p.E10G	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0003	0.00459265	0.0020	0.0006	0	0.0130	0.0057	0.0008	0.0067	0.0015	0.0018628	288	154602	rs145529151	0.0008	0.0008	0.0008	0.0008	0.0111	0.0007	0.0007	0.0102	0.0099	0.0003	2.236e-05	0	0.0111	0.0054	0.0007	0.0001	0.0022	0.0014	0.0013	0.0013	0.0010	0.0015	0.0155	0.0011	0.0011	0.0127	0.0117	0.0005	0	0.0001	0	0.0155	0.0056	0	0.0002	0.0028	0.0023	0.157	0.23997	T	0.331	0.18505	T	0.0	0.02946	B	0.0	0.01387	B	0.031789	0.01742	U	6.254030	1	0.08975	N	0	0.06538	N	1.89	0.23688	T	-0.18	0.09796	N	0.128	0.12198	-1.0450	0.15825	T	0.022	0.09330	T	10	0.0033584535	0.00058	T	.	.	.	0.035	0.08770	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	0.012083	0.10683	T	-0.658909	0.00064	T	-0.708222	0.05388	T	0.00273690444362809	0.00028	T	0.371963	0.08817	T	0.041920383	0.06261	0.02878614	0.01148	0.041920383	0.06261	0.02878614	0.01148	-3.303	0.13776	T	.	.	0.079	0.07365	B	.	.	0.251331	0.06306	2.764	0.7222528915413754	0.09899	0.01871	0.05765	N	AEFDGBHCI	0.049979	0.08690	N	-1.19375471244033	0.05094	0.2314144	-1.22318550392523	0.05539	0.2642004	0.999986664330601	0.51787	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.375	0.06713	1	.	.	3.04	0.601	0.16708	-0.628000	0.05611	-0.696000	0.07817	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2396:0.1361:0.0:0.6243	2.396	0.04122	85	0.96447	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1656.33	33	chr3	52534625	.	T	C	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=759;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.058;SOR=0.824	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1670,0,1380	18	0	1	0
chr3	64681245	64681245	G	C	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon3:c.C635G:p.P212R,ADAMTS9:NM_182920:exon3:c.C635G:p.P212R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.038063216427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.36310	T	0.676	0.59732	T	0.004	0.12183	B	0.004	0.10090	B	0.033985	0.24827	N	0.433418	0.999946	0.19238	N	2.005	0.54552	M	0.35	0.60973	T	-1.78	0.58896	N	0.196	0.27673	-0.9886	0.32953	T	0.143	0.46550	T	10	0.13376144	0.25459	T	0.038063	0.57999	D	0.082	0.23913	0.255	0.19533	0.58162856405	0.57834	0.18335679320861054	0.18254	0.204652363038	0.22886	0.28236156702	0.07824	T	0.080972	0.36489	T	-0.107605	0.35163	T	-0.392344	0.34276	T	0.424677073955536	0.29863	T	0.589041	0.21605	T	0.09520225	0.22400	0.11417621	0.27559	0.09520225	0.22400	0.11417621	0.27558	-4.372	0.29571	T	.	.	0.072	0.13268	B	.;.;.	.;.;.	1.138282	0.15254	11.71	0.77921101293641715	0.12079	0.78931	0.39021	D	AEFDBCI	0.278986	0.39314	N	-0.525696648276789	0.21251	1.126458	-0.485947465339317	0.22539	1.224759	0.99855605070234	0.37186	0.562547	0.31514	0	0.573888	0.26702	0	0.616487	0.41570	0	0.635551	0.53088	0	.	.	5.92	3.12	0.34986	2.964000	0.48885	2.844000	0.35098	0.672000	0.70159	0.996000	0.39380	0.994000	0.32194	0.417000	0.27162	0.1989:0.0:0.8011:0.0	10.876	0.46120	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1701.33	34	chr3	64681245	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.574;DP=739;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.61;SOR=0.404	GT:AD:DP:GQ:PL	0/1:52,73:125:99:1715,0,1202	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,105:165:99:0|1:75730450_C_T:4192,0,2183:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,8:95:74:0|1:75730591_G_A:74,0,3629:75730591	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,48:188:99:.:.:828,0,5117:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,89:197:99:.:.:2915,0,3949:.	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,89:214:99:0|1:75736920_C_A:3283,0,4981:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,87:216:99:0|1:75736920_C_A:3245,0,5128:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:138,83:221:99:2018,0,4450	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:136,104:240:99:2706,0,4444	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,135:271:99:.:.:3205,0,4336:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,140:278:99:0|1:75737092_C_T:5439,0,5363:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,138:277:99:0|1:75737092_C_T:5376,0,5411:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,132:274:99:0|1:75737092_C_T:5115,0,5565:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,111:243:99:0|1:75737092_C_T:4264,0,5209:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,73:189:99:0|1:75737092_C_T:2685,0,4651:75737092	0	0	19	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,171:249:99:.:.:6645,0,2546:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,175:312:99:0|1:75737590_A_G:6840,0,5206:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,183:325:99:0|1:75737590_A_G:7257,0,5412:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,196:342:99:0|1:75737590_A_G:7791,0,5541:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,191:329:99:0|1:75737590_A_G:7605,0,5220:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,183:317:99:0|1:75737590_A_G:7281,0,5076:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,127:331:99:0|1:75737814_C_T:4656,0,7692:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,69:276:99:0|1:75737881_T_C:2008,0,8283:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,54:258:99:0|1:75737881_T_C:1603,0,8356:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,52:256:99:0|1:75737881_T_C:1552,0,8381:75737881	1	0	18	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,35:240:99:0|1:75737994_T_C:853,0,8353:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,33:248:99:0|1:75737994_T_C:738,0,8928:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,21:235:99:0|1:75737994_T_C:238,0,8923:75737994	11	0	7	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1194.93	268	chr3	75738074	.	G	A	1194.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.911;DP=3462;ExcessHet=0.7564;FS=13.466;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.6;MQRankSum=-9.806;QD=1.67;ReadPosRankSum=-2.295;SOR=2.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,16:229:31:0|1:75737994_T_C:31,0,8896:75737994	14	0	4	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	969.93	268	chr3	75738077	.	A	C	969.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.037;DP=3428;ExcessHet=0.7564;FS=15.621;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.63;MQRankSum=-9.456;QD=1.39;ReadPosRankSum=-2.301;SOR=2.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,16:225:43:0|1:75737994_T_C:43,0,8728:75737994	14	0	4	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:122,34:156:99:630,0,3832	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1202,0,1859	1	0	18	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:126,29:155:36:36,0,2528	11	0	6	2
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,12:32:99:0|1:100775333_T_C:168,0,361:100775333	7	0	11	1
chr3	108398714	108398714	G	A	exonic	MYH15	.	stopgain	MYH15:NM_014981:exon36:c.C5116T:p.Q1706X	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	2.484e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs369988310	3.215e-05	3.215e-05	2.314e-05	4.125e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	7.194e-06	9.935e-05	0.0003	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.217	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391691	0.89427	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.313415	0.96385	36	0.99425631440897744	0.63984	0.95230	0.63920	D	AEFBI	0.096197	0.19423	N	0.502281161466001	0.67225	5.053306	0.19479820684601	0.49560	3.157842	0.00646219642633201	0.11224	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	1.56	0.22423	4.727000	0.61687	1.388000	0.26092	0.676000	0.76740	1.000000	0.71638	0.043000	0.21642	0.063000	0.16184	0.193:0.0:0.6859:0.1211	7.261	0.25379	321	0.86949	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	36	chr3	108398714	.	G	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.265;DP=712;ExcessHet=0;FS=5.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.187;SOR=0.414	GT:AD:DP:GQ:PL	0/1:52,37:89:99:941,0,1339	18	0	1	0
chr3	108554425	108554425	T	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon18:c.A2275G:p.I759V	.	561	935	21	5	0	31	0.0163072	.	.	.	2827615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0079	0.00678914	0.0151	0.0016	0.0152	0	0.0157	0.0210	0.0142	0.0136	0.0090684	1402	154602	rs13071874	0.0093	0.0098	0.0090	0.0095	0.0282	0.0092	0.0091	0.0245	0.0231	0.0012	0.0082	0.0216	2.558e-05	0.0118	0.0282	0.0092	0.0097	0.0113	0.0085	0.0085	0.0084	0.0086	0.0128	0.0081	0.0079	0.0108	0.0105	0.0016	0.0022	0.0103	0.0216	0	0.0107	0.0340	0.0114	0.0137	0.0128	0.671	0.04548	T	0.364	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.281368	0.963917	0.26004	N	1.61	0.41143	L	2.59	0.30133	T	-0.16	0.09460	N	0.051	0.03392	-1.0326	0.19618	T	0.031	0.13199	T	10	0.0028879046	0.00046	T	.	.	.	0.108	0.30607	.	.	0.409937222855	0.40610	0.04936724437716958	0.04879	0.123356630989	0.13895	0.384122222662	0.22839	T	0.003201	0.08027	T	-0.639528	0.00084	T	-0.678441	0.07079	T	0.00574206013498265	0.00063	T	0.733327	0.34901	T	0.028787773	0.02270	0.03298957	0.02120	0.028787773	0.02270	0.03298957	0.02120	-3.583	0.20700	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.728230	0.21999	15.44	0.97090227063027923	0.32319	0.68082	0.33669	D	AEFDBIJ	0.104944	0.20982	N	-0.194218152139997	0.33375	1.892736	-0.0284053599549227	0.38438	2.264582	0.999996611189207	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.567339	0.31927	0	.	.	5.15	5.15	0.70287	0.574000	0.23416	4.238000	0.42691	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.1488:0.1508:0.7004	5.505	0.16139	774	0.48577	.;.;.	.	.	.	.	rs13071874	Likely benign	0	0	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	0.019657	0.005102	0.027174	0.008772	0.000000	0.034483	0.012195	0.037879	0.05263	1578.83	34	chr3	108554425	.	T	C	1578.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=731;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.165;SOR=0.703	GT:AD:DP:GQ:PL	0/1:50,36:86:99:868,0,1229	17	0	2	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	10708.3	35	chr3	111885119	.	TCCTGTG	T	10708.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.892;DP=1198;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.653;SOR=0.697	GT:AD:DP:GQ:PL	0/1:60,57:117:99:2201,0,2305	14	0	5	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:63,36:108:95:95,0,1176	4	0	13	2
chr3	123209224	123209224	A	G	exonic	SEC22A	.	nonsynonymous SNV	SEC22A:NM_012430:exon2:c.A7G:p.M3V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0024935617248	.	.	2.473e-05	9.619e-05	0	0.0001	0	0	0	6.064e-05	1.94e-05	3	154602	rs746682356	4.105e-06	4.104e-06	1.361e-06	6.876e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.28271	T	0.208	0.39799	T	0.0	0.02946	B	0.0	0.01387	B	0.002913	0.35737	N	0.319209	0.998953	0.45755	D	2.23	0.63091	M	1.79	0.25509	T	-2.64	0.63782	D	0.373	0.41459	-1.0547	0.13119	T	0.058	0.24354	T	10	0.20392847	0.36566	T	0.002494	0.04953	T	0.171	0.43483	0.581	0.70733	0.320526991862	0.31653	0.45823066223830594	0.45741	0.110930127955	0.12519	0.397450447083	0.24714	T	0.472513	0.80476	T	-0.281754	0.10483	T	-0.460968	0.26493	T	0.141711369156837	0.16422	T	0.693531	0.30785	T	0.057582173	0.11479	0.09355722	0.22103	0.057582173	0.11478	0.09355722	0.22103	-5.287	0.39814	T	.	.	0.068	0.24599	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.231997	0.16270	12.43	0.92285917865527889	0.21672	0.90018	0.50874	D	AEFBI	0.359282	0.44966	N	-0.225031841057357	0.32109	1.807369	-0.172520886409489	0.32552	1.853085	0.00230652191987025	0.09310	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.63	0.752	0.17546	1.987000	0.40309	-0.159000	0.11341	-0.043000	0.17390	1.000000	0.71638	0.004000	0.18990	0.997000	0.79791	0.5336:0.151:0.17:0.1454	1.223	0.01810	618	0.66225	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	35	chr3	123209224	.	A	G	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=709;ExcessHet=0;FS=6.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.373;SOR=0.357	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1140,0,1148	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,16:65:99:.:.:118,0,973:.	3	0	16	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28,COL6A5:NM_153264:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	545.79	48	chr3	130421333	.	AGGAT	A	545.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.13;DP=765;ExcessHet=0.119;FS=88.032;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=1.21;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,14:63:99:0|1:130421333_AGGAT_A:205,0,1738:130421333	17	0	2	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	540.41	48	chr3	130421334	.	G	*	540.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,14:63:99:0|1:130421333_AGGAT_A:205,0,1738:130421333	17	0	2	0
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	5712.42	63	chr3	130421335	.	G	*	5712.42	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,14:63:99:0|1:130421333_AGGAT_A:205,0,1738:130421333	14	0	2	3
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6329.56	63	chr3	130421337	.	T	*	6329.56	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,14:63:99:0|1:130421333_AGGAT_A:205,0,1738:130421333	14	0	2	3
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10,COL6A5:NM_153264:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2384.72	56	chr3	130421338	.	T	TCACC	2384.72	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.854;DP=1150;ExcessHet=8.9063;FS=144.438;InbreedingCoeff=-0.485;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.37;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,14:62:99:0|1:130421333_AGGAT_A:208,0,1722:130421333	14	0	2	3
chr3	141444754	141444754	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376166:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376176:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376180:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376183:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376188:exon3:c.C2366T:p.P789L,ZBTB38:NM_001350100:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376119:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376127:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376152:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376157:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376162:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376163:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376168:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376172:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376175:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376179:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376181:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376184:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376185:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376186:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376187:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376189:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376190:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376115:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376120:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376126:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376128:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376142:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376158:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376159:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376165:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376167:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376169:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376170:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376171:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376173:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376174:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376177:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376178:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376182:exon5:c.C2366T:p.P789L,ZBTB38:NM_001350099:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376113:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376116:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376125:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376143:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376150:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376160:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376161:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376112:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376114:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376117:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376118:exon7:c.C2366T:p.P789L,ZBTB38:NM_001080412:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376121:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376122:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376123:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376124:exon8:c.C2366T:p.P789L	.	.	.	.	.	.	.	.	.	.	.	3356901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00467848631684	.	.	8.325e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs752377477	2.121e-05	2.121e-05	1.906e-05	2.338e-05	4.472e-05	1.52e-05	1.324e-05	1.174e-05	9.55e-06	0	4.472e-05	0	2.519e-05	1.873e-05	0	1.799e-05	6.623e-05	3.478e-05	6.575e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.526	0.07116	T	0.519	0.10501	T	0.0	0.02946	B	0.0	0.01387	B	0.875850	0.07204	N	1.066810	1	0.08975	N	0.915	0.23335	L	3.1	0.08283	T	-0.15	0.09297	N	0.071	0.04426	-0.9584	0.39479	T	0.013	0.05177	T	9	0.038012415	0.02192	T	0.004678	0.11628	T	0.040	0.10527	0.224	0.14813	0.043077524339	0.03247	0.11067955290298502	0.10996	0.420908205615	0.42609	0.246695369482	0.03428	T	0.007676	0.07071	T	-0.421811	0.01666	T	-0.760813	0.03084	T	0.0152875096193424	0.00338	T	0.590441	0.21717	T	0.01375432	0.00069	0.024291677	0.00446	0.01375432	0.00068	0.024291677	0.00446	-3.117	0.11492	T	.	.	0.077	0.06341	B	.;.;.;.	.;.;.;.	1.012417	0.13913	10.47	0.61262512074870357	0.06665	0.29276	0.23779	N	AEFDBIJ	0.102859	0.20622	N	-0.909135784361842	0.10627	0.5087625	-0.820551828490116	0.13998	0.7291427	0.999986821475244	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.33	3.29	0.36801	0.327000	0.19408	1.704000	0.28151	-0.193000	0.09282	0.000000	0.06391	0.005000	0.19230	0.071000	0.16709	0.0:0.7163:0.0:0.2837	8.757	0.33812	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1588.33	34	chr3	141444754	.	C	T	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=791;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.488;SOR=0.768	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1602,0,1790	18	0	1	0
chr3	149140178	149140178	C	T	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.C392T:p.P131L	Hermansky-Pudlak syndrome 3	0	1519	3	0	0	3	0.000986518	.	.	YES	888165	Hermansky-Pudlak_syndrome_3|not_specified|not_provided	MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.779	0.130990766981	.	0.00119808	0.0002	0	8.637e-05	0.0002	0	5.998e-05	0	0.0008	0.0002329	36	154602	rs577273287	0.0001	0.0001	7.079e-05	0.0001	0.0010	8.915e-05	8.399e-05	0.0008	0.0008	0	0.0005	0	0	0	0.0005	2.608e-05	9.935e-05	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.715e-05	0.0004	0.0003	2.407e-05	0	0.0007	0	0	0	0	0.0001	0	0.0010	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.054697	1	0.81001	D	2.515	0.73286	M	-1.01	0.76168	T	-7.61	0.95366	D	0.881	0.87917	0.333	0.88070	D	0.642	0.87477	D	10	0.2632987	0.43806	T	0.130991	0.81320	D	0.779	0.92623	0.561	0.68093	0.966122989864	0.96575	0.8477761004963824	0.84738	0.597952910678	0.54975	0.642516732216	0.58922	T	0.806518	0.95119	D	0.0841198	0.62519	D	0.291708	0.87777	D	0.50471305847168	0.32802	D	0.928707	0.73770	D	0.62234986	0.73889	0.58985394	0.76204	0.62234986	0.73890	0.58985394	0.76205	-10.434	0.76467	D	0.9453345539821836	0.97969	0.395	0.59285	A	.	.	4.561104	0.71881	25.7	0.99881491288956803	0.95733	0.99368	0.95115	D	AEFBI	0.757601	0.69650	D	0.755159421830618	0.83240	7.965923	0.709506226954916	0.83099	7.934085	0.999999999912062	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	6.393000	0.73149	7.605000	0.61698	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:1.0:0.0:0.0	19.869	0.96841	929	0.16858	Hermansky-Pudlak syndrome 3 protein, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2864.33	33	chr3	149140178	.	C	T	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=868;ExcessHet=0;FS=4.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.376;SOR=0.922	GT:AD:DP:GQ:PL	0/1:124,113:237:99:2878,0,3022	18	0	1	0
chr3	151338390	151338390	C	T	exonic	P2RY12	.	nonsynonymous SNV	P2RY12:NM_176876:exon2:c.G456A:p.M152I,P2RY12:NM_022788:exon3:c.G456A:p.M152I	Bleeding disorder, platelet-type, 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0122811956081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.125	0.35330	T	0.592	0.39119	P	0.348	0.42747	B	0.000000	0.84330	D	0.043353	1	0.81001	D	1.81	0.47622	L	1.26	0.36330	T	-1.82	0.42763	N	0.676	0.68342	-1.0928	0.05082	T	0.101	0.37417	T	10	0.72169137	0.73705	D	0.012281	0.30711	T	0.105	0.29889	0.619	0.75347	0.69744551405	0.69483	0.4648151446565921	0.46400	0.556522500148	0.52305	0.515333116055	0.40970	T	0.155194	0.49681	T	-0.0749744	0.40528	T	-0.345472	0.39722	T	0.874809145927429	0.52466	D	0.863614	0.55989	D	0.5548044	0.70222	0.47463587	0.69553	0.5548044	0.70224	0.47463587	0.69553	-4.78	0.34357	T	.	.	0.770	0.75917	P	.	.	3.728958	0.53327	23.3	0.99377741865365421	0.61759	0.93389	0.58086	D	AEFI	0.628060	0.61029	D	0.267322218766555	0.54501	3.615463	0.378510938125895	0.60241	4.209631	0.999965796806559	0.48965	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	5.41	0.78313	3.763000	0.54969	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.581	0.95460	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2304.33	33	chr3	151338390	.	C	T	2304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.731;DP=813;ExcessHet=0;FS=4.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.681;SOR=1.061	GT:AD:DP:GQ:PL	0/1:90,83:173:99:2318,0,2496	18	0	1	0
chr3	154429186	154429186	A	C	exonic	GPR149	.	nonsynonymous SNV	GPR149:NM_001038705:exon1:c.T430G:p.S144A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00541288513356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.195	0.28032	T	0.134	0.27266	B	0.031	0.21939	B	0.005059	0.33144	N	0.317631	0.999994	0.08975	N	1.675	0.43121	L	1.64	0.27822	T	-1.13	0.29114	N	0.252	0.28498	-1.0499	0.14425	T	0.043	0.18368	T	10	0.10046756	0.18297	T	0.005413	0.13893	T	0.010	0.01040	0.231	0.15855	0.152612264143	0.14878	0.2685623422855064	0.26769	0.0900557989908	0.10158	0.38711887598	0.23262	T	0.153457	0.49432	T	-0.230087	0.16639	T	-0.56828	0.15607	T	0.150374940554177	0.17133	T	0.390061	0.09662	T	0.122194454	0.28720	0.17284603	0.39569	0.122194454	0.28719	0.17284603	0.39568	-3.793	0.20700	T	.	.	0.077	0.06341	B	.	.	1.265758	0.16637	12.67	0.94334754858933922	0.24671	0.51981	0.29023	D	AEFDBHI	0.131818	0.25089	N	-0.661844559147827	0.17115	0.8780244	-0.65328627276084	0.18134	0.9673674	0.995593489105812	0.34213	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.52	3.0	0.33773	0.371000	0.20182	0.076000	0.14327	0.756000	0.94297	0.477000	0.26777	0.000000	0.08366	0.169000	0.20946	0.5606:0.1118:0.1442:0.1834	2.099	0.03452	886	0.28090	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	.	.	.	.	.	.	.	.	0.02632	1596.33	34	chr3	154429186	.	A	C	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=768;ExcessHet=0;FS=2.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.338;SOR=0.513	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1610,0,1835	18	0	1	0
chr3	155829719	155829719	T	G	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001363883:exon3:c.A1145C:p.N382T,SLC33A1:NM_001190992:exon5:c.A1451C:p.N484T,SLC33A1:NM_004733:exon5:c.A1451C:p.N484T	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	290000	not_specified|Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia|Huppke-Brendel_syndrome|Hereditary_spastic_paraplegia_42	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313|MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00769841663997	0.0022	0.000998403	0.0016	0.0004	0.0008	0.0003	0	0.0025	0.0011	0.0010	0.0018046	279	154602	rs144015992	0.0031	0.0031	0.0032	0.0030	0.0037	0.0030	0.0030	0.0036	0.0036	0.0005	0.0011	0.0014	0.0001	0.0001	0.0007	0.0037	0.0025	0.0011	0.0018	0.0018	0.0023	0.0013	0.0030	0.0016	0.0016	0.0026	0.0025	0.0008	0	0.0016	0.0006	0.0008	9.423e-05	0	0.0030	0.0038	0.0006	0.889	0.05061	T	0.767	0.04523	T	0.002	0.09854	B	0.012	0.16012	B	0.001752	0.38106	N	0.314588	0.999	0.21971	N	-0.08	0.04796	N	-0.59	0.71543	T	-0.43	0.25332	N	0.198	0.21969	-1.0057	0.28247	T	0.079	0.31314	T	10	0.0067625046	0.00153	T	0.007698	0.20431	T	0.101	0.28911	.	.	0.605204069629	0.60204	0.46653806632036554	0.46572	0.391143789511	0.40312	0.493725419044	0.37955	T	0.065709	0.32758	T	-0.476689	0.00774	T	-0.454479	0.27204	T	0.00281897036022858	0.00029	T	0.689931	0.30130	T	0.03867317	0.05195	0.039250873	0.03975	0.047084894	0.07991	0.03893474	0.03872	-1.655	0.02114	T	0.12738842124302793	0.13034	0.080	0.20196	B	.;.;.;.;.	.;.;.;.;.	2.236680	0.28556	17.84	0.93259980320684333	0.22954	0.55883	0.29976	D	AEFBI	0.214549	0.34001	N	-0.768171025183652	0.14145	0.7022363	-0.521494610653492	0.21570	1.167487	0.999957472648713	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	4.51	0.54589	0.878000	0.27770	2.873000	0.35279	0.661000	0.55757	0.217000	0.24502	1.000000	0.68203	0.995000	0.73285	0.0:0.1829:0.1502:0.6669	5.287	0.15018	852	0.35056	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1272.33	34	chr3	155829719	.	T	G	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.849;SOR=0.692	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1286,0,1532	18	0	1	0
chr3	157313724	157313725	CT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167912:exon11:c.1906_1907del:p.H637Ffs*21,VEPH1:NM_024621:exon11:c.1906_1907del:p.H637Ffs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs777623013	2.463e-05	2.463e-05	2.995e-05	1.925e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	1.656e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1541.29	37	chr3	157313723	.	ACT	A	1541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=754;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.592;SOR=0.565	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1555,0,1640	18	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,34:219:99:0|1:157381267_G_C:831,0,7624:157381267	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,35:220:99:0|1:157381267_G_C:851,0,7606:157381267	9	0	7	3
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_001167912:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_024621:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5885.78	34	chr3	157381271	.	AGGTGT	A	5885.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,36:219:99:0|1:157381267_G_C:899,0,7540:157381267	15	0	4	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,36:219:99:0|1:157381267_G_C:899,0,7540:157381267	5	0	6	8
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1096.8	48	chr3	157381273	.	G	*	1096.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,36:219:99:0|1:157381267_G_C:899,0,7540:157381267	8	0	4	7
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1702.6	48	chr3	157381275	.	G	*	1702.6	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,36:219:99:0|1:157381267_G_C:899,0,7540:157381267	13	0	4	2
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_001167912:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_024621:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3348.89	48	chr3	157381276	.	T	TCCCCC	3348.89	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.683;DP=1968;ExcessHet=0.7564;FS=96.049;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.65;ReadPosRankSum=1.12;SOR=10.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,36:207:99:0|1:157381267_G_C:936,0,7037:157381267	14	0	4	1
chr3	165829781	165829781	C	A	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon2:c.G1253T:p.G418V	Apnea, postanesthetic (3)	2	1495	24	1	0	26	0.00862069	.	.	YES	28258	Deficiency_of_butyrylcholinesterase|BCHE,_fluoride_2|BCHE-related_disorder	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:C3889588|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.101294479083	0.0036	0.00199681	0.0030	0.0005	0.0020	0	0.0017	0.0047	0.0033	0.0007	0.0031371	485	154602	rs28933390	0.0041	0.0041	0.0042	0.0040	0.0076	0.0040	0.0040	0.0058	0.0052	0.0004	0.0025	0.0024	5.039e-05	0.0019	0.0076	0.0049	0.0036	0.0007	0.0031	0.0031	0.0030	0.0032	0.0053	0.0029	0.0028	0.0048	0.0046	0.0010	0.0011	0.0029	0.0014	0	0.0013	0.0034	0.0053	0.0047	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.088	0.25022	B	0.072	0.28043	B	0.000219	0.47681	D	0.219988	0.998433	0.81001	A	0.235	0.09667	N	-0.14	0.65006	T	-1.96	0.45404	N	0.266	0.30118	-0.8784	0.49888	T	0.088	0.34133	T	9	0.01191321	0.00258	T	0.101294	0.77410	D	0.077	0.22490	.	.	0.846113530671	0.84463	0.6543701978509309	0.65373	0.0319269504354	0.03313	0.399992108345	0.25067	T	0.524091	0.83410	D	-0.396417	0.02444	T	-0.340836	0.40250	T	0.0518772446842959	0.05825	T	0.787021	0.42574	T	0.76492524	0.81744	0.535401	0.73153	0.76492524	0.81746	0.535401	0.73154	-6.421	0.49673	T	0.09405499381777237	0.06253	0.185	0.40048	B	.	.	1.933699	0.24560	16.44	0.93028901734608516	0.22629	0.66422	0.33073	D	AEFBI	0.552100	0.56390	D	-0.610209302217186	0.18637	0.9691694	-0.471836815746863	0.22934	1.248124	9.16409283121542E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.46	3.1	0.34780	1.394000	0.34118	5.125000	0.47615	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.1527:0.0:0.8473	8.943	0.34900	910	0.22284	Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.008152	0.020468	0.000000	0.008621	0.006098	0.003788	0.02632	1617.33	34	chr3	165829781	.	C	A	1617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.036;DP=771;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.452;SOR=0.86	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1631,0,1844	18	0	1	0
chr3	180679313	180679313	T	G	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon1:c.A68C:p.E23A	Ciliary dyskinesia, primary, 14	0	1520	2	0	0	2	0.000657462	.	.	.	293446	not_provided|Primary_ciliary_dyskinesia_14|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00932865766129	8.1e-05	.	0.0003	0.0001	8.639e-05	0	0.0002	0.0004	0.0011	0.0005	0.0002717	42	154602	rs200225521	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0.0002	0.0001	0.0012	0	3.745e-05	0.0019	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	9.626e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0	0.0002	0.088	0.32296	T	0.016	0.60972	D	0.482	0.36779	P	0.161	0.34794	B	0.000041	0.55875	D	0.159069	0.996073	0.43003	D	2.25	0.63811	M	.	.	.	-4.09	0.74821	D	0.49	0.52386	-0.5896	0.65237	T	0.236	0.60282	T	9	0.08464903	0.14208	T	0.009329	0.24483	T	0.143	0.38195	.	.	0.488897681448	0.48522	.	.	0.167866755791	0.18923	0.483332842588	0.36515	T	0.025224	0.18905	T	-0.257037	0.13249	T	-0.242829	0.50521	T	0.0664061926778105	0.08137	T	0.782222	0.41780	T	0.29219335	0.52196	0.21992828	0.46749	0.30438828	0.53296	0.22557949	0.47506	-11.088	0.80138	D	.	.	.	.	.	.	.	3.078024	0.41394	21.3	0.98696340343103184	0.44838	0.19099	0.20527	N	AEFDGBHCI	0.122891	0.23824	N	0.0064452918882998	0.42149	2.534075	0.0438319436038556	0.41773	2.515	0.999999999974222	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	5.59	5.59	0.84677	0.671000	0.24853	1.860000	0.29316	0.665000	0.62972	0.050000	0.21411	0.986000	0.30841	0.810000	0.38174	0.0:0.0:0.0:1.0	13.137	0.58831	506	0.75555	.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1825.33	33	chr3	180679313	.	T	G	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.467;DP=802;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.698;SOR=0.721	GT:AD:DP:GQ:PL	0/1:67,80:147:99:1839,0,1640	18	0	1	0
chr3	186150150	186150150	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241A:p.M747I,DGKG:NM_001080745:exon24:c.G2199A:p.M733I,DGKG:NM_001346:exon25:c.G2316A:p.M772I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00859096310238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401138172	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.16507882	0.30865	T	0.008591	0.22705	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.14645895888831176	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731992	0.40813	T	-0.342922	0.40012	T	0.488949269197456	0.32226	T	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.748954	0.53721	23.4	0.99049024059349722	0.51207	0.80611	0.40203	D	AEFBI	0.402778	0.47673	N	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	261.44	26	chr3	186150150	.	C	T	261.44	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.989;DP=527;ExcessHet=0.3672;FS=187.346;InbreedingCoeff=-0.2269;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=0.496;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:43:0|1:186150150_C_T:43,0,866:186150150	11	0	1	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T,DGKG:NM_001080745:exon24:c.T2198C:p.M733T,DGKG:NM_001346:exon25:c.T2315C:p.M772T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1154	268.55	26	chr3	186150151	.	A	G	268.55	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-1.712;DP=536;ExcessHet=0.3672;FS=156.254;InbreedingCoeff=-0.2123;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=1.24;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,9:37:43:0|1:186150150_C_T:43,0,866:186150150	10	0	3	6
chr3	194397532	194397532	T	C	exonic	GP5	.	nonsynonymous SNV	GP5:NM_004488:exon2:c.A751G:p.R251G	.	.	.	.	.	.	.	.	.	.	.	4148885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00857974822764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.499	0.11227	T	0.001	0.07471	B	0.004	0.10090	B	0.359241	0.13696	N	0.600559	1	0.08975	N	-0.275	0.03743	N	0.65	0.52642	T	-1.91	0.44471	N	0.051	0.02272	-1.0062	0.28095	T	0.036	0.15509	T	10	0.10751355	0.19974	T	0.00858	0.22680	T	0.074	0.21613	0.476	0.55342	0.236278675362	0.23226	0.50581910209385	0.50503	.	.	0.278910309076	0.07341	T	0.105022	0.41511	T	-0.322255	0.06715	T	-0.700674	0.05789	T	0.0414046235382557	0.03945	T	0.346465	0.07620	T	0.09092085	0.21290	0.06984897	0.14767	0.09092085	0.21290	0.06984897	0.14767	-5.795	0.44531	T	.	.	0.095	0.15070	B	.	.	1.008695	0.13873	10.43	0.76525760487096361	0.11503	0.17004	0.19646	N	AEFDBIJ	0.207866	0.33399	N	-1.31160391994464	0.03542	0.1583767	-1.29520453436861	0.04495	0.212151	0.99994864832686	0.47345	0.764865	0.99124	0	0.628146	0.54582	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.06	-1.16	0.09181	0.058000	0.14178	-0.725000	0.07688	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2582:0.1464:0.5954	5.061	0.13896	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	61	chr3	194397532	.	T	C	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.237;DP=929;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.431;SOR=0.619	GT:AD:DP:GQ:PL	0/1:86,74:160:99:1816,0,2441	18	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1333	33235.5	441	chr3	195778917	.	G	*	33235.5	.	AC=4;AF=0.133;AN=30;BaseQRankSum=3.61;DP=6934;ExcessHet=4.595;FS=4.108;InbreedingCoeff=-0.3196;MLEAC=5;MLEAF=0.167;MQ=56.41;MQRankSum=-4.995;QD=9.52;ReadPosRankSum=-0.848;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,129:192:99:0|1:195778917_G_C:9020,851,1201:195778917	11	0	4	4
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	45498.8	626	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	45498.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.89;DP=8901;ExcessHet=4.0818;FS=1.787;InbreedingCoeff=-0.2179;MLEAC=4;MLEAF=0.105;MQ=55.88;MQRankSum=-5.582;QD=8.72;ReadPosRankSum=-2.868;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,129:269:99:0|1:195778917_G_C:9011,2323,4012:195778917	15	0	4	0
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:6,104:166:99:.:.:6474,1628,1664:.	5	1	5	8
chr3	195779088	195779135	GGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12445_12492del:p.I4149_T4164del	.	431	1083	6	0	2	8	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.363e-05	0.0003	4.981e-05	3.727e-05	0.0002	3.409e-05	3.114e-05	6.809e-05	4.363e-05	3.557e-05	0	0.0002	0.0002	4.514e-05	0	3.539e-05	0.0001	2.672e-05	0.0015	0.0080	0.0013	0.0016	0.0032	0.0013	0.0012	0.0018	0.0014	0.0009	0.0027	0.0014	0.0018	0.0032	0.0017	0	0.0016	0.0032	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	898.29	388	chr3	195779087	.	CGGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	C	898.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=5325;ExcessHet=0;FS=54.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.81;MQRankSum=-1.823;QD=2.9;ReadPosRankSum=-3.227;SOR=3.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,41:310:99:0|1:195778916_CGTGA_C:912,0,11167:195778916	18	0	1	0
chr3	195779218	195779218	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12362T:p.A4121V	.	534	929	55	1	3	60	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00199681	0.0012	0.0189	0	0	0	0	0	0	0.0003842	10	26028	rs570653011	0.0020	0.0026	0.0019	0.0020	0.0105	0.0019	0.0019	0.0093	0.0089	0.0082	0.0044	0.0063	0.0105	0.0029	0.0026	0.0014	0.0033	0.0014	0.0020	0.0079	0.0021	0.0018	0.0056	0.0017	0.0016	0.0048	0.0044	0.0056	0.0020	0.0009	0.0010	0.0008	0.0020	0.0070	0.0006	0.0017	0.0018	0.627	0.05198	T	0.336	0.18505	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.32	0.12283	N	0.016	0.00485	-1.0054	0.28337	T	0.037	0.15986	T	8	0.004960388	0.00106	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	0.0014571820117349596	0.00134	.	.	0.478965163231	0.35914	T	.	.	.	-0.395893	0.02463	T	-0.806449	0.01746	T	0.000308449673652253	0.00003	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.;.	.;.	0.546246	0.09146	5.931	0.77954834034286202	0.12093	0.00508	0.02383	N	AEFBI	0.056400	0.10424	N	-1.64873185852342	0.01040	0.04512938	-1.74631554552793	0.00947	0.04240378	1.32593971836097E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	0.072000	0.14482	-0.730000	0.07666	-1.704000	0.00753	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2743:0.0:0.7257:0.0	5.068	0.13930	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046729	0.093750	0.021186	0.014706	0.000000	0.095238	0.036458	0.026316	0.02941	92.13	521	chr3	195779218	.	G	A	92.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.57;DP=5472;ExcessHet=0;FS=0;InbreedingCoeff=0.3968;MLEAC=1;MLEAF=0.029;MQ=52.79;MQRankSum=-1.854;QD=1.68;ReadPosRankSum=2.39;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:99:0|1:195779205_C_G:105,0,1896:195779205	16	0	1	2
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.125	4903.95	250	chr3	195779374	.	C	A	4903.95	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=4;MLEAF=0.167;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,27:29:3:0|1:195779325_A_G:1128,0,3:195779325	9	0	3	7
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.2083	4879.21	216	chr3	195779396	.	C	T	4879.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-3.05;DP=2869;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.1684;MLEAC=7;MLEAF=0.292;MQ=54.32;MQRankSum=-11.44;QD=8.53;ReadPosRankSum=3.75;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,27:30:45:0|1:195779325_A_G:1125,0,45:195779325	8	1	3	7
chr3	195779492	195779492	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12088A:p.A4030T,MUC4:NM_001322468:exon17:c.G10312A:p.A3438T	.	504	998	10	1	9	21	0.0059761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00418503029548	.	.	0.0011	0.0068	0	0.0066	0	0.0010	0	0	7.68e-05	2	26028	rs201610286	0.0006	0.0014	0.0005	0.0006	0.0056	0.0005	0.0005	0.0046	0.0043	0.0021	0.0014	0.0008	0.0056	0.0007	0	0.0003	0.0005	0.0013	0.0012	0.0030	0.0013	0.0012	0.0038	0.0010	0.0009	0.0028	0.0025	0.0038	0	0.0009	0.0009	0	0.0010	0	0.0005	0	0.0006	0.544	0.06713	T	0.348	0.17804	T	.	.	.	.	.	.	0.380396	0.13397	U	0.326178	1	0.08975	N	.	.	.	1.32	0.35775	T	0.77	0.01949	N	0.049	0.06059	-1.0415	0.16860	T	0.036	0.15726	T	8	0.0062698424	0.00141	T	0.004185	0.10058	T	0.028	0.06331	.	.	0.0138822411134	0.00435	5.312176544221146E-4	0.00049	.	.	0.53436434269	0.43649	T	.	.	.	-0.380383	0.03099	T	-0.784171	0.02330	T	0.00133984037597319	0.00013	T	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03736	B	.;.	.;.	-0.379171	0.02292	0.240	0.1287385868035672	0.00237	0.00006	0.00120	N	AEFI	0.022889	0.01203	N	-1.83812636536535	0.00459	0.01972532	-1.94292326004565	0.00401	0.01775236	4.60139763418673E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.955000	0.00741	-6.298000	0.01438	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2712:0.2994:0.4294	2.314	0.03938	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017065	0.046667	0.005376	0.017241	0.000000	0.013158	0.012931	0.012346	0.05556	71.2	166	chr3	195779492	.	C	T	71.2	.	AC=2;AF=0.056;AN=36;DP=2422;ExcessHet=0;FS=0;InbreedingCoeff=0.7405;MLEAC=1;MLEAF=0.028;MQ=46;QD=32.36;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:90,6,0:195779435	17	1	0	1
chr3	195779501	195779501	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12079T:p.T4027S,MUC4:NM_001322468:exon17:c.A10303T:p.T3435S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00374578285358	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1481210309	3.122e-05	0.0004	3.451e-05	2.79e-05	0.0001	2.285e-05	2.028e-05	4.148e-05	2.417e-05	3.422e-05	0.0001	0.0001	6.89e-05	2.515e-05	0	2.623e-05	2.052e-05	1.382e-05	9.815e-06	0.0003	1.882e-05	0	3.169e-05	0	0	.	.	3.169e-05	0	0	0	0	0	0	0	0	0	0.532	0.10482	T	0.835	0.03674	T	.	.	.	.	.	.	0.584203	0.11114	U	0.395708	1	0.08975	N	.	.	.	1.44	0.32722	T	0.17	0.05125	N	0.065	0.03726	-1.0370	0.18233	T	0.032	0.13942	T	8	0.06966394	0.10027	T	0.003746	0.08682	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.001275087623026635	0.00117	.	.	0.49954688549	0.38764	T	.	.	.	-0.33093	0.06041	T	-0.713135	0.05135	T	0.0378775149583817	0.03310	T	0.510449	0.16283	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32945	B	.;.	.;.	0.777854	0.11479	8.082	0.45705155810256842	0.03607	0.00373	0.01896	N	AEFI	0.073427	0.14686	N	-1.09220533376408	0.06785	0.31339	-1.23885946884122	0.05298	0.252097	1.16378297766622E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.007000	0.12747	0.135000	0.15097	-1.362000	0.01180	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3911:0.0:0.6089	2.735	0.04915	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.56	166	chr3	195779501	.	T	A	71.56	.	AC=2;AF=0.056;AN=36;DP=2422;ExcessHet=0;FS=0;InbreedingCoeff=0.6305;MLEAC=1;MLEAF=0.028;MQ=46;QD=28.88;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:90,6,0:195779435	17	1	0	1
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,99:458:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3077,0,14362:195781570	7	0	10	2
chr3	195781607	195781703	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	0	exonic	MUC4	.	.	.	.	455	767	10	10	280	310	0.0191816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5738.6	732	chr3	195781607	.	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	*	5738.6	.	AC=3;AF=0.167;AN=18;DP=7165;ExcessHet=0.0506;FS=4.874;InbreedingCoeff=-0.0857;MLEAC=5;MLEAF=0.278;MQ=52.52;MQRankSum=1.54;QD=3.34;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,99:458:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3077,0,14362:195781570	6	0	3	10
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:4,99:322:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13177,8641,10018:195781570	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,219:322:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:9789,577,0:195781570	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,219:322:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:9789,577,0:195781570	5	2	3	9
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	11129.9	626	chr3	195781645	.	G	*	11129.9	.	AC=5;AF=0.313;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=9;MLEAF=0.563;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,219:322:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:9789,577,0:195781570	5	2	1	11
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,219:322:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:9789,577,0:195781570	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,219:322:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:9789,577,0:195781570	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,160:252:99:.:.:4930,0,3376:.	7	1	10	1
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	0/1:316,56:386:99:6015,0,11584	6	0	5	8
chr3	195783057	195783057	T	0	exonic	MUC4	.	.	.	.	0	207	1	0	18	19	0.00240964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	859.77	493	chr3	195783057	.	T	*	859.77	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.43;DP=8169;ExcessHet=0.8031;FS=0.56;InbreedingCoeff=-0.1091;MLEAC=4;MLEAF=0.143;MQ=55.83;MQRankSum=-6.533;QD=0.53;ReadPosRankSum=5.71;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,235:378:99:.:.:6495,0,16555:.	11	0	3	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10805.8	355	chr3	195783068	.	G	*	10805.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=2.51;DP=7610;ExcessHet=1.4758;FS=5.085;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.22;MQRankSum=-10.42;QD=3.69;ReadPosRankSum=-2.88;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,227:381:99:0|1:195783038_G_*:6490,0,16561:195783038	8	0	4	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10736.8	358	chr3	195783070	.	A	*	10736.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=3.79;DP=7581;ExcessHet=1.4758;FS=7.09;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.3;MQRankSum=-10.39;QD=3.64;ReadPosRankSum=-2.999;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,227:387:99:0|1:195783038_G_*:6496,0,16508:195783038	8	0	4	7
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	5203.28	458	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*	5203.28	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-0.194;DP=7760;ExcessHet=0.856;FS=1.163;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.038;MQ=56.91;MQRankSum=-3.105;QD=3.1;ReadPosRankSum=2.52;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,227:387:99:0|1:195783038_G_*:6502,0,16431:195783038	12	0	1	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	92777.8	319	chr3	195783084	.	A	*	92777.8	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.675;DP=7548;ExcessHet=0.007;FS=2.736;InbreedingCoeff=0.437;MLEAC=4;MLEAF=0.125;MQ=57.31;MQRankSum=7.15;QD=22.91;ReadPosRankSum=3.08;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:6,227:420:99:.:.:15036,7680,15649:.	12	0	4	3
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,227:431:99:0|1:195783038_G_*:6551,0,15750:195783038	8	0	6	5
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	108773.0	320	chr3	195783093	.	A	*	108773.0	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.349;DP=7624;ExcessHet=0.0275;FS=3.375;InbreedingCoeff=0.3644;MLEAC=5;MLEAF=0.179;MQ=57.42;MQRankSum=4.92;QD=23.07;ReadPosRankSum=3.47;SOR=0.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,227:592:99:.:.:22440,14546,14998:.	10	0	4	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,243:496:99:0|1:195783038_G_*:6557,0,15153:195783038	6	0	5	8
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	329.52	321	chr3	195783105	.	C	*	329.52	.	AC=4;AF=0.154;AN=26;BaseQRankSum=4.36;DP=7378;ExcessHet=1.7113;FS=6.552;InbreedingCoeff=0.0048;MLEAC=5;MLEAF=0.192;MQ=57.33;MQRankSum=-7.859;QD=0.2;ReadPosRankSum=3.55;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,243:496:99:0|1:195783038_G_*:6557,0,15153:195783038	9	0	4	6
chr3	195786692	195786692	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4888G:p.T1630A,MUC4:NM_001322468:exon5:c.A4888G:p.T1630A	.	411	1102	9	0	0	9	0.00406688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00199681	0.0087	0.0020	0.0090	0.0427	0.0006	0.0042	0.0041	0.0151	0.0010373	27	26028	rs74500246	0.0023	0.0069	0.0023	0.0023	0.0059	0.0022	0.0022	0.0051	0.0048	0.0005	0.0041	0.0045	0.0059	0.0006	0.0018	0.0020	0.0028	0.0052	0.0026	0.0079	0.0025	0.0027	0.0279	0.0024	0.0023	0.0230	0.0212	0.0009	0.0050	0.0056	0.0046	0.0279	0.0020	0	0.0015	0.0039	0.0042	0.926	0.03587	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.28189	T	-0.17	0.09627	N	0.045	0.01740	-0.9577	0.39608	T	0.053	0.22539	T	7	0.0057762265	0.00129	T	.	.	.	0.027	0.05988	.	.	0.0138822411134	0.00435	0.0013996328587127945	0.00128	.	.	0.472726225853	0.35055	T	.	.	.	-0.364331	0.03891	T	-0.761113	0.03073	T	0.011518552387113	0.00174	T	0.541746	0.18406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06617	B	.;.	.;.	0.288039	0.06644	3.143	0.59756809278937539	0.06299	0.00207	0.01180	N	AEFBI	0.054523	0.09922	N	-1.06909136316264	0.07219	0.3346587	-1.25036143067023	0.05126	0.2434934	1.30642004914175E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.338000	0.01184	-4.211000	0.02279	-2.107000	0.00391	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:7.0E-4:0.0:0.9993	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009987	0.005618	0.013834	0.004762	0.055556	0.000000	0.017986	0.013889	0.02778	1138.71	840	chr3	195786692	.	T	C	1138.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.7;DP=8862;ExcessHet=0;FS=1.93;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.34;MQRankSum=-8.898;QD=1.36;ReadPosRankSum=-1.529;SOR=0.894	GT:AD:DP:GQ:PL	0/1:753,86:839:99:1152,0,31175	17	0	1	1
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,8:31:1:.:.:324,0,1:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,8:26:99:0|1:195787238_C_*:1083,750,732:195787238	10	0	6	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,8:24:99:0|1:195787238_C_*:972,647,648:195787238	7	0	7	5
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:195787508_T_C:4230,283,0:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:195787508_T_C:4230,283,0:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:195787508_T_C:4230,283,0:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:195787508_T_C:4230,283,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94:94:99:1|1:195787508_T_C:4230,283,0:195787508	4	8	1	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del,MUC4:NM_001322468:exon4:c.3675_3722del:p.G1230_A4615delinsDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3819.47	11	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T	3819.47	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.751;DP=307;ExcessHet=0.0378;FS=19.966;InbreedingCoeff=0.3451;MLEAC=2;MLEAF=0.056;MQ=35.96;MQRankSum=-1.117;QD=29.61;ReadPosRankSum=-0.735;SOR=4.496	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:24:99:.:.:933,702,821:.	16	0	2	1
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	69.43	9	chr3	195787858	.	G	*	69.43	.	AC=2;AF=0.056;AN=36;DP=292;ExcessHet=0.0101;FS=12.075;InbreedingCoeff=0.3028;MLEAC=2;MLEAF=0.056;MQ=38.14;QD=5.79;SOR=3.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,6:24:99:.:.:231,0,119:.	16	0	2	1
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3202.6	13	chr3	195787862	.	C	*	3202.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.571;DP=289;ExcessHet=0.0393;FS=17.151;InbreedingCoeff=0.3513;MLEAC=2;MLEAF=0.059;MQ=35.8;MQRankSum=-1.266;QD=25.02;ReadPosRankSum=0.468;SOR=4.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:17:99:0|1:195787862_C_*:714,462,444:195787862	15	0	2	2
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	4448.9	27	chr3	195787897	.	T	*	4448.9	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.327;DP=435;ExcessHet=0.0393;FS=10.484;InbreedingCoeff=0.3966;MLEAC=2;MLEAF=0.059;MQ=36.09;MQRankSum=-1.533;QD=22.13;ReadPosRankSum=1.04;SOR=3.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,6:22:99:0|1:195787862_C_*:854,618,654:195787862	15	0	2	2
chr3	197768445	197768445	G	T	exonic	FYTTD1	.	nonsynonymous SNV	FYTTD1:NM_032288:exon3:c.G242T:p.G81V,FYTTD1:NM_001011537:exon4:c.G164T:p.G55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0715372049021	7.7e-05	.	7.432e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs374772494	6.882e-05	7.183e-05	6.025e-05	7.747e-05	8.494e-05	5.747e-05	5.358e-05	7.081e-05	6.571e-05	0	0	0	0	7.522e-05	0	8.494e-05	3.332e-05	0	7.89e-05	8.539e-05	7.712e-05	8.077e-05	0.0001	4.5e-05	3.515e-05	6.805e-05	5.088e-05	0	0	0.0001	0	0	9.43e-05	0	0.0001	0	0	0.013	0.57480	D	0.058	0.49120	T	1.0	0.90584	D	0.999	0.97372	D	0.000203	0.47681	D	0.217498	1	0.81001	D	2.125	0.59049	M	0.24	0.59583	T	-6.61	0.96736	D	0.465	0.56145	-0.4421	0.70660	T	0.321	0.69030	T	10	0.61023057	0.67403	D	0.071537	0.71296	D	0.402	0.71558	.	.	0.272557281605	0.26857	0.4053870992343222	0.40454	0.762354738883	0.64337	0.503435671329	0.39306	T	0.106435	0.41778	T	-0.121937	0.32807	T	-0.153251	0.58954	T	0.696983516216278	0.40575	D	0.732927	0.34859	T	0.471531	0.65385	0.45887175	0.68561	0.471531	0.65385	0.45887175	0.68562	-3.479	0.17582	T	.	.	0.375	0.58132	A	.;.;.;.;.	.;.;.;.;.	3.696017	0.52685	23.3	0.9965577884771335	0.77631	0.93826	0.59302	D	AEFBI	0.540197	0.55686	D	0.613698005191099	0.74039	6.065653	0.569400356760017	0.72757	5.860488	0.00591845557050739	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	4.27	0.50009	4.637000	0.61044	7.221000	0.57847	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.0:0.8292:0.1707	12.170	0.53461	776	0.48302	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1087.33	33	chr3	197768445	.	G	T	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.682;DP=721;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.178;SOR=0.534	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1101,0,1217	18	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, 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	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.02632	822.33	49	chr4	1744729	.	C	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.941;DP=857;ExcessHet=0;FS=4.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.147;SOR=0.589	GT:AD:DP:GQ:PL	0/1:41,30:71:99:836,0,1243	18	0	1	0
chr4	3518190	3518190	T	G	exonic	LRPAP1	.	nonsynonymous SNV	LRPAP1:NM_002337:exon5:c.A595C:p.I199L	Myopia 23, autosomal recessive, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0075204883773	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35108689	1.372e-06	1.368e-06	0	2.761e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.05826	T	0.074	0.42976	T	0.023	0.18885	B	0.286	0.40541	B	0.040837	0.24015	N	0.439086	1	0.08975	N	2.22	0.62911	M	0.96	0.42888	T	-0.49	0.15578	N	0.152	0.15609	-0.9393	0.42727	T	0.095	0.35924	T	10	0.078802824	0.12602	T	0.00752	0.19952	T	0.111	0.31313	0.409	0.44395	0.171388866994	0.16791	0.21486315736824846	0.21402	0.0586537782296	0.06507	0.326622992754	0.14424	T	0.232067	0.59854	T	-0.292633	0.09373	T	-0.658124	0.08394	T	0.0710252643031828	0.08793	T	0.871313	0.57716	D	0.027503068	0.01952	0.028158115	0.01026	0.027503068	0.01952	0.028158115	0.01026	-2.102	0.03593	T	.	.	0.135	0.29255	B	.;.	.;.	0.765366	0.11352	7.969	0.87253817125565303	0.17096	0.44206	0.27267	N	AEFBCI	0.184851	0.31218	N	-0.868168704496054	0.11605	0.5609741	-0.942439700148794	0.11099	0.5633703	0.00346553174951932	0.10129	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.99	-0.361	0.11939	1.181000	0.31626	-0.845000	0.07201	0.665000	0.62972	0.135000	0.23427	0.000000	0.08366	0.235000	0.22869	0.1853:0.2853:0.0:0.5294	2.948	0.05495	900	0.24599	Alpha-2-macroglobulin RAP, C-terminal|Alpha-2-macroglobulin RAP, domain 2;Alpha-2-macroglobulin RAP, C-terminal|Alpha-2-macroglobulin RAP, domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1291.33	33	chr4	3518190	.	T	G	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=760;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.764;SOR=0.839	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1305,0,1290	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:117,37:154:99:175,0,2921	1	0	18	0
chr4	9244879	9244879	A	G	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.A1001G:p.H334R	.	1197	316	9	0	0	9	0.0140406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.508361647957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167677267	0.0027	0.0095	0.0029	0.0026	0.0033	0.0026	0.0025	0.0031	0.0030	0.0002	0.0009	0.0038	0.0006	0.0026	0	0.0033	0.0026	0.0026	0.0080	0.0080	0.0080	0.0080	0.0228	0.0074	0.0072	0.0169	0.0148	0.0006	0	0.0030	0.0221	0.0133	0.0135	0	0.0150	0.0042	0.0228	0.028	0.46129	D	0.023	0.58089	D	.	.	.	.	.	.	0.000270	0.46590	N	0.081780	0.877035	0.35675	D	4.55	0.99125	H	1.83	0.24841	T	-7.32	0.94537	D	0.693	0.69825	-0.1594	0.78686	T	0.290	0.66133	T	7	0.6232799	0.68099	D	0.508362	0.95262	D	0.208	0.49714	0.951	0.99428	0.117506650769	0.11410	0.0640731943701918	0.06346	.	.	0.467071056366	0.34278	T	0.26042	0.63180	T	-0.0326292	0.47034	T	-0.284646	0.46326	T	0.492950975894928	0.32372	T	0.806819	0.47234	T	0.48180032	0.66010	0.35956147	0.61413	0.48180032	0.66010	0.35956147	0.61412	-9.085	0.68242	D	.	.	0.958	0.87863	P	.;.	.;.	2.119805	0.26979	17.31	0.73507343099269651	0.10353	0.67844	0.33581	D	AEFI	0.216727	0.34194	N	-0.0967589040984963	0.37533	2.185091	-0.413343132654461	0.24605	1.348304	1.5210448038379E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	3.952000	0.56399	.	.	0.327000	0.19478	1.000000	0.71638	0.596000	0.25695	0.104000	0.18471	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	59.4	4	chr4	9244879	.	A	G	59.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.654;DP=324;ExcessHet=0;FS=7.224;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=22.4;MQRankSum=-0.212;QD=1.56;ReadPosRankSum=0.64;SOR=0.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,7:38:73:.:.:73,0,927:.	18	0	1	0
chr4	9268691	9268691	G	C	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1073C:p.S358T,USP17L22:NM_001256863:exon1:c.G1073C:p.S358T	.	1201	286	32	3	0	38	0.0622951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00252801589494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190046545	0.0162	0.0048	0.0141	0.0180	0.0925	0.0152	0.0149	0.0834	0.0799	0.0013	0.0668	0.0042	0.0153	0.0084	0.0085	0.0099	0.0112	0.0925	0.0167	0.0016	0	0.0357	0.0217	0.0030	0.0012	.	.	0	.	0	0	.	0.0357	.	0.0217	.	0	0.003	0.68238	D	0.008	0.67890	D	0.002	0.09854	B	0.026	0.20792	B	0.272848	0.15094	N	0.530180	0.999999	0.08975	N	0.23	0.09627	N	3.35	0.05989	T	-1.09	0.28290	N	0.042	0.01825	-0.9598	0.39218	T	0.008	0.02842	T	9	0.001774013	0.00023	T	0.002528	0.05065	T	0.047	0.12962	.	.	.	.	0.010295473243389567	0.00990	.	.	0.555411934853	0.46620	T	0.012805	0.11189	T	-0.374487	0.03373	T	-0.775701	0.02586	T	0.00945624223669672	0.00122	T	0.440756	0.12177	T	0.23182844	0.45961	0.15108691	0.35605	0.23182844	0.45961	0.15108691	0.35604	-7.752	0.59368	D	.	.	0.109	0.20896	B	.;.	.;.	1.406614	0.18215	13.61	0.86885054519545457	0.16839	0.08602	0.14508	N	AEFI	0.043507	0.06886	N	-1.09628047717139	0.06711	0.309726	-1.13963482210736	0.06956	0.3365952	1.15120976389251E-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	-0.674	0.10797	0.616000	0.24038	.	.	0.297000	0.18867	0.057000	0.21666	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	268.17	62	chr4	9268691	.	G	C	268.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.792;DP=1205;ExcessHet=0;FS=3.082;InbreedingCoeff=-0.1255;MLEAC=1;MLEAF=0.029;MQ=36.27;MQRankSum=-0.686;QD=3.39;ReadPosRankSum=1.07;SOR=0.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,12:79:99:0|1:9268687_T_G:279,0,2675:9268687	16	0	1	2
chr4	10598048	10598048	C	A	exonic	CLNK	.	nonsynonymous SNV	CLNK:NM_052964:exon3:c.G13T:p.G5C	.	.	.	.	.	.	.	.	0.0286	0.218	.	3656839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.0437774283063	.	.	2.817e-05	0	0	0	0	5.844e-05	0	0	6.5e-06	1	154602	rs755910013	2.043e-05	2.326e-05	9.772e-06	3.129e-05	5.088e-05	1.433e-05	1.239e-05	1.664e-05	1.413e-05	0	5.088e-05	0	0	0	0	2.392e-05	1.697e-05	0	1.316e-05	1.314e-05	1.286e-05	1.348e-05	6.552e-05	2.19e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.116042	0.19209	N	0.463226	1	0.81001	D	1.65	0.42232	L	0.57	0.54347	T	-1.63	0.39119	N	0.466	0.50237	-0.7528	0.57789	T	0.216	0.57836	T	10	0.23150986	0.40126	T	0.043777	0.61156	D	0.232	0.53354	0.161	0.06507	0.1749357433	0.17121	0.06224002180450513	0.06164	0.034062690304	0.03576	0.467596709728	0.34350	T	0.096049	0.39744	T	0.00222737	0.51960	T	-0.234577	0.51326	T	0.660529136657715	0.38919	D	0.509649	0.16214	T	0.28853247	0.51855	0.25042287	0.50633	0.28853247	0.51855	0.25042287	0.50632	-5.287	0.39814	T	.	.	0.242	0.47665	B	.;.	.;.	4.003474	0.59012	24.0	0.99720087859790441	0.81984	0.77777	0.38282	D	AEFBI	0.506833	0.53739	D	0.395877463714991	0.61198	4.317742	0.388696273958095	0.60866	4.279333	0.999973458396659	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	3.94	0.44807	2.083000	0.41239	2.159000	0.30968	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8289:0.0:0.1711	8.931	0.34833	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	954.33	33	chr4	10598048	.	C	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=711;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.429;SOR=0.46	GT:AD:DP:GQ:PL	0/1:37,38:75:99:968,0,857	18	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.1053	5529.91	48	chr4	15003254	.	A	AGCC	5529.91	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.13;DP=768;ExcessHet=6.9875;FS=0.392;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:21,9:30:99:315,0,855	15	0	4	0
chr4	48594018	48594018	T	-	splicing	FRYL	NM_015030:exon16:c.1249-2A>-	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0008	0	0	0	0	0.0059	3.84e-05	1	26028	rs773912160	0.0003	0.0003	0.0002	0.0004	0.0051	0.0003	0.0002	0.0047	0.0045	0	0	0	0	0	0.0007	0	0.0004	0.0051	0.0001	0.0001	0.0001	0.0001	0.0040	8.269e-05	6.808e-05	0.0026	0.0022	0	0	0	0	0	0	0	0	0	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	473.3	12	chr4	48594017	.	CT	C	473.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.921;DP=530;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-1.796;SOR=0.681	GT:AD:DP:GQ:PL	0/1:15,17:32:99:487,0,433	18	0	1	0
chr4	67630516	67630516	T	G	exonic	UBA6	.	nonsynonymous SNV	UBA6:NM_018227:exon26:c.A2278C:p.N760H	.	.	.	.	.	.	.	.	.	.	.	2217796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00812358464229	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0006	0	0	0.0001617	25	154602	rs140006149	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	4.919e-05	0.0007	0	3.917e-05	0.0003	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0	0.0012	0	0	0	0.0003	0	0	0.003	0.68238	D	0.006	0.70582	D	0.391	0.34615	B	0.235	0.38432	B	0.000198	0.48115	D	0.239630	0.523745	0.31548	N	0.84	0.21119	L	1.0	0.41392	T	-1.01	0.26639	N	0.451	0.48872	-0.8479	0.52113	T	0.195	0.54927	T	10	0.06136805	0.07683	T	0.008124	0.21521	T	0.082	0.23913	.	.	0.158540857583	0.15491	0.33960312925275365	0.33873	0.14949255728	0.16857	0.458430349827	0.33095	T	0.153059	0.49374	T	-0.317421	0.07111	T	-0.390601	0.34481	T	0.136363744735718	0.15958	T	0.805919	0.45429	T	0.19090664	0.40695	0.1879367	0.42054	0.19090664	0.40695	0.1879367	0.42053	-8.581	0.64963	D	.	.	0.076	0.05979	B	.	.	3.674768	0.52277	23.2	0.98374757915113276	0.40791	0.97608	0.75872	D	AEFBI	0.627185	0.60973	D	0.266746233303644	0.54471	3.612654	0.355536504790423	0.58842	4.05741	0.999814288216109	0.43459	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.91	4.91	0.63897	6.063000	0.70796	4.972000	0.46406	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.376	0.66446	955	0.09969	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme, catalytic cysteine domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	642.33	39	chr4	67630516	.	T	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=789;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.519;SOR=1.022	GT:AD:DP:GQ:PL	0/1:49,28:77:99:656,0,1138	18	0	1	0
chr4	68053955	68053955	C	G	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon10:c.G1271C:p.R424T	.	439	1076	6	1	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.144236885818	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0002	0	0.0016	0.0003169	49	154602	rs200202727	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	8.947e-05	0.0024	2.52e-05	0	0.0003	1.349e-05	0.0003	0.0012	7.223e-05	7.218e-05	5.139e-05	9.401e-05	0.0015	3.969e-05	3.125e-05	0.0007	0.0005	0	0	0	0.0006	0	0	0	1.47e-05	0.0005	0.0015	0.002	0.72154	D	0.006	0.70582	D	0.964	0.55854	D	0.783	0.57419	P	0.000842	0.41440	D	0.106362	0.885204	0.35833	D	3.045	0.86684	M	-3.48	0.94584	D	-5.16	0.83422	D	0.624	0.63883	1.002	0.97223	D	0.867	0.95583	D	10	0.08312583	0.13795	T	0.144237	0.82651	D	0.687	0.88585	.	.	0.914166010888	0.91330	0.7876491475330307	0.78716	0.321257321859	0.34324	0.46925008297	0.34577	T	0.522848	0.83346	D	0.00456421	0.52282	T	0.188228	0.82469	D	0.238330126882022	0.22342	T	0.820318	0.47908	T	0.5055301	0.67418	0.45647022	0.68408	0.5055301	0.67419	0.45647022	0.68408	-10.086	0.74425	D	.	.	0.293	0.52459	B	.	.	2.695859	0.35200	19.84	0.98143339729469281	0.38622	0.80185	0.39890	D	AEFI	0.158146	0.28376	N	0.507767073386747	0.67547	5.096347	0.457546788725571	0.65204	4.794218	6.63632627682788E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.79	4.78	0.60666	0.863000	0.27567	.	.	-0.182000	0.10109	0.391000	0.26096	0.014000	0.20376	0.380000	0.26335	0.0:0.909:0.0:0.091	13.005	0.58104	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05263	3310.83	42	chr4	68053955	.	C	G	3310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1001;ExcessHet=0.119;FS=2.609;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.425;SOR=0.568	GT:AD:DP:GQ:PL	0/1:85,71:156:99:1740,0,2166	17	0	2	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	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	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.05263	5937.83	33	chr4	72283389	.	C	T	5937.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1091;ExcessHet=0.119;FS=1.741;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.989;SOR=0.677	GT:AD:DP:GQ:PL	0/1:148,105:253:99:2697,0,3894	17	0	2	0
chr4	75012704	75012704	G	C	exonic	PARM1	.	nonsynonymous SNV	PARM1:NM_015393:exon2:c.G323C:p.G108A	.	427	1069	25	1	0	27	0.0124711	.	.	.	698629	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0068	0.00439297	0.0069	0.0016	0.0057	0	0.0053	0.0099	0.0089	0.0028	0.0068046	1052	154602	rs35489484	0.0080	0.0080	0.0080	0.0080	0.0147	0.0079	0.0078	0.0122	0.0113	0.0012	0.0056	0.0363	0	0.0054	0.0147	0.0083	0.0092	0.0031	0.0060	0.0060	0.0061	0.0059	0.0079	0.0057	0.0056	0.0074	0.0072	0.0019	0	0.0054	0.0360	0.0002	0.0052	0.0136	0.0079	0.0104	0.0021	0.029	0.45756	D	0.781	0.04316	T	0.356	0.33761	B	0.115	0.31843	B	0.361759	0.13659	N	0.629622	1	0.08975	N	1.385	0.34509	L	0.94	0.43672	T	-1.63	0.39119	N	0.135	0.13198	-1.0431	0.16383	T	0.033	0.14203	T	10	0.0029345155	0.00047	T	.	.	.	0.016	0.02506	.	.	0.183819452728	0.17975	0.17113161244794653	0.17033	0.4958697666	0.48115	0.244511067867	0.03212	T	0.004081	0.03492	T	-0.563973	0.00240	T	-0.573489	0.15131	T	0.00303491343539984	0.00032	T	0.518148	0.16784	T	0.04519569	0.07355	0.05171733	0.08379	0.04519569	0.07355	0.05171733	0.08378	-2.942	0.09569	T	.	.	0.087	0.11076	B	.	.	0.835362	0.12070	8.623	0.90813975057967	0.20062	0.03334	0.08411	N	AEFDBI	0.110943	0.21982	N	-1.17381300362104	0.05398	0.2460147	-1.24168389630744	0.05255	0.2499702	0.987967867817081	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.0	-0.683	0.10765	0.300000	0.18911	0.029000	0.13704	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1107:0.2824:0.4442:0.1627	2.722	0.04882	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.010101	0.009511	0.000000	0.050000	0.000000	0.012195	0.000000	0.02632	3185.33	43	chr4	75012704	.	G	C	3185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.326;DP=881;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.234;SOR=0.563	GT:AD:DP:GQ:PL	0/1:116,130:246:99:3199,0,3203	18	0	1	0
chr4	85994761	85994761	C	G	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon6:c.C528G:p.S176R,ARHGAP24:NM_031305:exon6:c.C828G:p.S276R,ARHGAP24:NM_001042669:exon7:c.C822G:p.S274R,ARHGAP24:NM_001287805:exon7:c.C852G:p.S284R,ARHGAP24:NM_001025616:exon9:c.C1107G:p.S369R	.	419	1097	5	1	0	7	0.00318037	.	.	.	1961185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00831723055267	.	.	6.59e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs762866205	4.515e-05	4.515e-05	2.45e-05	6.6e-05	0.0006	3.641e-05	3.321e-05	0.0004	0.0004	0	0	0	0	0	0	9.892e-06	9.935e-05	0.0006	1.315e-05	1.314e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.071	0.46910	T	0.509	0.10857	T	0.112	0.26290	B	0.025	0.20508	B	0.002001	0.37503	N	0.298358	0.999999	0.08975	N	0.69	0.16971	N	0.87	0.46412	T	-0.64	0.18670	N	0.194	0.23506	-1.0674	0.09994	T	0.062	0.25672	T	10	0.03836143	0.02250	T	0.008317	0.22029	T	0.041	0.10877	0.209	0.12639	0.534668972696	0.53115	0.3380545901983891	0.33718	0.205660221654	0.22987	0.331638723612	0.15182	T	0.014186	0.12124	T	-0.4443	0.01220	T	-0.515189	0.20783	T	0.0259775780141354	0.01402	T	0.871813	0.57812	D	0.0652629	0.13930	0.060072295	0.11381	0.0652629	0.13930	0.060072295	0.11381	-5.548	0.43533	T	.	.	0.225	0.46893	B	.;.;.;.	.;.;.;.	1.711957	0.21796	15.35	0.97509579566325721	0.34341	0.22258	0.21686	N	AEFDBHCIJ	0.094096	0.19031	N	-0.535130256826258	0.20952	1.108365	-0.484708738224794	0.22574	1.226789	0.999991626259926	0.74766	0.675202	0.55065	0	0.588015	0.36545	0	0.573888	0.23631	0	0.756233	0.99697	0	.	.	4.99	-0.832	0.10240	0.027000	0.13512	0.404000	0.18035	0.549000	0.26987	0.545000	0.27306	0.996000	0.32793	0.985000	0.61073	0.1849:0.3989:0.1056:0.3106	1.523	0.02367	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2049.33	33	chr4	85994761	.	C	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.156;DP=1599;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:77,78:155:99:2063,0,2184	18	0	1	0
chr4	87615731	87615731	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,20:39:99:0|1:87615730_ATAG_A:763,0,717:87615730	1	11	7	0
chr4	87615740	87615740	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,13:32:99:0|1:87615730_ATAG_A:749,0,925:87615730	7	7	5	0
chr4	87615746	87615746	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,13:32:99:0|1:87615730_ATAG_A:749,0,925:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	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	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,13:28:99:1|0:87615730_ATAG_A:562,0,917:87615730	2	2	9	6
chr4	88435891	88435891	A	T	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon17:c.A2309T:p.K770M,HERC6:NM_017912:exon18:c.A2417T:p.K806M	.	10	215	1	0	0	1	0.00232019	0.0001	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.76473	D	0.4	0.36182	B	0.075	0.32463	B	0.060233	0.22264	N	0.448896	0.688552	0.30213	N	3.29	0.90338	M	0.23	0.59717	T	-4.38	0.77143	D	0.312	0.35194	-0.8845	0.49398	T	0.168	0.50762	T	10	0.35688514	0.52417	T	0.030968	0.53161	D	0.148	0.39182	0.52	0.62217	0.813973308528	0.81222	0.42178055179047824	0.42095	0.290169740636	0.31425	0.309795558453	0.11877	T	0.030858	0.21775	T	-0.0285127	0.47634	T	-0.278733	0.46934	T	0.969491004943848	0.68610	D	0.865813	0.56597	D	0.48294795	0.66078	0.42872787	0.66577	0.48294795	0.66079	0.42872787	0.66577	-10.175	0.74953	D	.	.	0.178	0.39081	B	.;.	.;.	1.804956	0.22940	15.82	0.99443604314323719	0.64921	0.45530	0.27559	N	AEFBI	0.210898	0.33673	N	-0.359602001772994	0.26922	1.473045	-0.406889529544571	0.24795	1.359783	0.0051625464258011	0.10849	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.7	0.954	0.18719	0.292000	0.18766	0.916000	0.22667	-0.109000	0.15193	0.572000	0.27522	0.966000	0.29516	0.196000	0.21779	0.5161:0.0:0.4839:0.0	8.17	0.30410	742	0.52873	.;HECT domain|HECT domain|HECT domain|HECT 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	.	.	.	.	.	.	.	.	0.02632	625.33	28	chr4	88435891	.	A	T	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.23;SOR=0.803	GT:AD:DP:GQ:PL	0/1:29,24:53:99:639,0,856	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:93,41:134:47:47,0,1371	2	0	16	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,44:118:99:.:.:147,0,994:.	2	0	17	0
chr4	99420561	99420561	A	G	exonic	ADH7	.	nonsynonymous SNV	ADH7:NM_000673:exon6:c.T833C:p.F278S,ADH7:NM_001166504:exon6:c.T857C:p.F286S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.027032813515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000597	0.43095	D	0.201651	1	0.81001	D	4.43	0.98752	H	2.39	0.15724	T	-7.7	0.95634	D	0.866	0.86297	-0.4580	0.70135	T	0.190	0.54213	T	10	0.9200646	0.91361	D	0.027033	0.49884	D	0.370	0.68930	0.875	0.96581	0.643794017197	0.64084	0.8039085666107554	0.80344	0.192174225506	0.21549	0.453213214874	0.32383	T	0.340093	0.70916	T	0.102164	0.64526	D	-0.0910244	0.64085	T	0.997820377349854	0.92514	D	0.79572	0.43862	T	0.9163662	0.92897	0.7679916	0.86298	0.9163662	0.92898	0.7679916	0.86299	-10.184	0.75006	D	.	.	0.983	0.91771	P	.;.;.;.	.;.;.;.	4.112850	0.61418	24.3	0.99852671684781058	0.93191	0.98779	0.86744	D	AEFI	0.555610	0.56598	D	0.591290408615812	0.72630	5.836169	0.369865711477195	0.59712	4.151541	0.948884385828511	0.27821	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.5	3.5	0.39181	4.365000	0.59259	5.652000	0.49186	0.756000	0.94297	0.862000	0.30648	1.000000	0.68203	0.941000	0.48210	1.0:0.0:0.0:0.0	12.472	0.55134	929	0.16858	Alcohol dehydrogenase, C-terminal;Alcohol dehydrogenase, C-terminal;Alcohol dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1086.33	35	chr4	99420561	.	A	G	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=847;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=2.92;SOR=0.917	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1100,0,1405	18	0	1	0
chr4	99652146	99652146	T	C	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.A2503G:p.M835V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00934335794148	.	.	0.0011	0	0	0	0	0	0	0.0017	8.41e-05	13	154602	rs759124229	4.553e-05	4.309e-05	2.425e-05	6.737e-05	0.0007	3.637e-05	3.305e-05	0.0006	0.0005	0	0	0	0	0	0.0002	1.854e-06	1.727e-05	0.0007	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.048	0.40068	D	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.69	0.27032	T	0.1	0.05810	N	0.045	0.01740	-1.0312	0.20066	T	0.034	0.14683	T	6	0.01891756	0.00416	T	0.009343	0.24506	T	0.027	0.05988	0.113	0.02240	0.136095386433	0.13204	0.07390835701561081	0.07327	.	.	.	.	.	0.002508	0.01894	T	-0.652562	0.00070	T	-0.760577	0.03092	T	0.0433721783229063	0.04306	T	0.125387	0.00975	T	0.20455676	0.42569	0.23408504	0.48615	0.20455676	0.42569	0.23408504	0.48614	-1.916	0.02879	T	.	.	0.072	0.04238	B	.	.	1.015202	0.13947	10.51	0.75271915522262756	0.11011	0.38875	0.26086	N	AEFDBI	0.222643	0.34710	N	-0.393204468747564	0.25709	1.397712	-0.412756909742529	0.24623	1.349354	0.979980424488552	0.30085	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.47	1.85	0.24418	0.619000	0.24083	1.303000	0.25487	0.665000	0.62972	0.236000	0.24706	0.999000	0.35428	0.380000	0.26335	0.1445:0.0845:0.0:0.771	6.860	0.23241	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1333.33	54	chr4	99652146	.	T	C	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=1127;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=0.648;SOR=0.967	GT:AD:DP:GQ:PL	0/1:127,60:187:99:1347,0,3278	18	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:54,40:94:99:280,0,884	5	0	12	2
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,26:102:38:0|1:140563137_C_G:38,0,2035:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,39:104:99:0|1:140563137_C_G:367,0,1041:140563137	1	0	18	0
chr4	146903553	146903553	C	T	exonic	TTC29	.	nonsynonymous SNV	TTC29:NM_001317806:exon6:c.G577A:p.E193K,TTC29:NM_031956:exon6:c.G577A:p.E193K,TTC29:NM_001300761:exon7:c.G655A:p.E219K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.029033736749	.	.	1.752e-05	0	0	0	0	3.113e-05	0	0	1.94e-05	3	154602	rs774734375	4.74e-05	4.72e-05	4.646e-05	4.834e-05	6.131e-05	3.809e-05	3.49e-05	4.912e-05	4.495e-05	0	0	0	0	0	0	6.131e-05	0	1.176e-05	2.629e-05	2.627e-05	2.569e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.01	0.56456	D	0.01	0.65728	D	1.0	0.90584	D	0.977	0.81110	D	0.000083	0.51296	D	0.128109	0.97613	0.39866	D	2.545	0.74286	M	2.44	0.15145	T	-2.93	0.61284	D	0.689	0.76666	-1.0079	0.27572	T	0.121	0.42036	T	10	0.7004471	0.72410	D	0.029034	0.51617	D	0.191	0.46948	0.449	0.50957	0.601387495524	0.59820	0.6086231243265792	0.60794	0.0980478779435	0.11067	0.557942390442	0.46977	T	0.04142	0.25853	T	0.0479905	0.58084	T	-0.0356799	0.67990	D	0.97166246175766	0.69403	D	0.89841	0.65830	D	0.31808558	0.54478	0.29794925	0.55829	0.31808558	0.54478	0.29794925	0.55828	-6.006	0.46330	T	.	.	0.223	0.49196	B	.;.;.;.	.;.;.;.	5.155074	0.86359	28.9	0.99921312945301943	0.98787	0.86932	0.46326	D	AEFI	0.281401	0.39499	N	0.664781679253401	0.77329	6.653775	0.633974271813738	0.77422	6.676373	0.935214564645753	0.27204	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.62	5.62	0.85714	2.806000	0.47644	7.630000	0.62690	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	17.870	0.88724	888	0.27761	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1131.33	33	chr4	146903553	.	C	T	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.246;SOR=0.624	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1145,0,978	18	0	1	0
chr4	151649608	151649608	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon10:c.G1567A:p.A523T,FAM160A1:NM_001109977:exon11:c.G1567A:p.A523T	.	427	1094	1	0	0	1	0.00045683	.	.	.	2688228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0177636633461	0.0007	.	0.0002	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs375182034	4.859e-05	4.788e-05	5.076e-05	4.636e-05	0.0002	3.894e-05	3.563e-05	4.663e-05	4.238e-05	3.165e-05	0	0	2.798e-05	0	0.0002	5.839e-05	0	2.524e-05	8.543e-05	8.536e-05	7.708e-05	9.417e-05	0.0001	4.958e-05	3.963e-05	6.805e-05	5.088e-05	9.653e-05	0	0	0	0	0	0	0.0001	0	0	0.041	0.41915	D	0.01	0.65728	D	0.789	0.44570	P	0.217	0.37636	B	.	.	.	.	0.994521	0.42315	D	3.315	0.90654	M	2.5	0.14408	T	-2.73	0.58085	D	0.162	0.17002	-1.0752	0.08307	T	0.040	0.17234	T	9	0.15652588	0.29477	T	0.017764	0.39584	T	0.141	0.37795	.	.	0.0716867268079	0.06686	0.5659958648888554	0.56527	.	.	0.507851600647	0.39922	T	0.09197	0.38906	T	-0.282888	0.10364	T	-0.347933	0.39440	T	0.380149788991859	0.28188	T	0.974702	0.91007	D	0.10054045	0.23740	0.1800563	0.40779	0.10054045	0.23739	0.1800563	0.40779	-6.076	0.46911	T	.	.	0.123	0.27100	B	.;.	.;.	3.214485	0.43774	21.8	0.9987878434103552	0.95491	0.90512	0.51749	D	AEFDBHCIJ	0.518240	0.54402	D	0.262399199556831	0.54255	3.591534	0.283179944138395	0.54557	3.620338	0.999999988767911	0.74766	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.17	4.27	0.50009	4.535000	0.60341	4.483000	0.43541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.581000	0.30918	0.0:0.0:0.7298:0.2702	13.266	0.59564	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	7019.81	34	chr4	151649608	.	G	A	7019.81	.	AC=2;AF=0.053;AN=38;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.48;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,223:223:99:7047,669,0	18	1	0	0
chr4	157321519	157321519	T	G	exonic	GRIA2	.	nonsynonymous SNV	GRIA2:NM_000826:exon6:c.T802G:p.S268A,GRIA2:NM_001083619:exon6:c.T802G:p.S268A,GRIA2:NM_001083620:exon6:c.T661G:p.S221A,GRIA2:NM_001379000:exon6:c.T661G:p.S221A,GRIA2:NM_001379001:exon6:c.T661G:p.S221A	.	433	1082	7	0	0	7	0.00322432	.	.	.	3185124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.225	0.0493016143986	0.0008	0.000199681	0.0008	0	8.642e-05	0	0.0026	0.0011	0.0033	0.0005	0.0007633	118	154602	rs140170280	0.0006	0.0006	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	3.001e-05	0.0006	3.836e-05	0	0.0028	0.0026	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0008	0.0014	0.0005	0.0005	0.0007	0.0005	7.218e-05	0	0.0009	0	0	0.0030	0	0.0006	0.0009	0.0014	0.054	0.39334	T	0.198	0.33000	T	0.0	0.02946	B	0.002	0.21332	B	0.000003	0.62929	D	0.062591	0.66997	0.33133	D	0.345	0.11182	N	-1.68	0.82897	D	-0.34	0.12847	N	0.11	0.11340	-0.5198	0.67921	T	0.314	0.68389	T	10	0.014852703	0.00312	T	0.049302	0.63754	D	0.225	0.52323	.	.	0.711220359637	0.70869	0.5210782207702288	0.52030	0.507877447658	0.48965	0.574447393417	0.49305	T	0.175957	0.52572	T	-0.344147	0.05106	T	-0.317561	0.42843	T	0.0547423717922944	0.06314	T	0.646135	0.25753	T	0.24623437	0.47591	0.14716622	0.34837	0.24623437	0.47591	0.14716622	0.34836	-2.627	0.08211	T	0.07050452392643826	0.02729	0.065	0.01934	B	.;.;.;.;.	.;.;.;.;.	3.469521	0.48398	22.6	0.98829992549823198	0.46936	0.93830	0.59314	D	AEFI	0.588657	0.58583	D	-0.313935845663424	0.28618	1.57998	-0.177329264770353	0.32372	1.841081	0.00364848504263491	0.10216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.28	0.50183	5.621000	0.67420	6.069000	0.53240	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.0:0.3103:0.0:0.6897	6.075	0.19133	957	0.09725	.;.;.;.;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	2993.81	47	chr4	157321519	.	T	G	2993.81	.	AC=2;AF=0.053;AN=38;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=1.227	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3021,285,0	18	1	0	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	247.47	34	chr4	168898668	.	T	C	247.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.592;DP=1085;ExcessHet=0.7564;FS=86.384;InbreedingCoeff=-0.1185;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.627;SOR=8.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,12:59:99:0|1:168898668_T_C:107,0,1458:168898668	15	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,12:59:99:0|1:168898668_T_C:107,0,1458:168898668	13	0	6	0
chr4	173529010	173529010	C	T	exonic	HAND2	.	nonsynonymous SNV	HAND2:NM_021973:exon1:c.G280A:p.G94R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.646887395252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.22	0.25907	T	0.846	0.46778	P	0.209	0.37260	B	0.000088	0.51296	D	0.076564	0.894441	0.36026	D	1.5	0.37844	L	-4.18	0.96882	D	-1.82	0.42763	N	0.307	0.34659	0.288	0.87370	D	0.622	0.86680	D	10	0.4452568	0.58355	T	0.646887	0.97003	D	0.403	0.71636	0.268	0.21576	0.993074464793	0.99299	0.5448411735642519	0.54410	1.21311497561	0.80885	0.934179544449	0.99206	D	0.401789	0.75900	T	0.132843	0.67637	D	-0.0469572	0.67230	D	0.842109262943268	0.49500	D	0.769523	0.39899	T	0.1824749	0.39468	0.30801705	0.56822	0.1824749	0.39468	0.30801705	0.56821	-5.347	0.40406	T	.	.	0.679	0.72111	P	.	.	4.737052	0.76355	26.5	0.99248018374733693	0.56759	0.87478	0.47030	D	ALL	0.824832	0.74465	D	-0.0726011672390702	0.38597	2.263054	0.0121408146774836	0.40278	2.401191	0.999999981570368	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.02	4.02	0.45968	3.022000	0.49342	7.464000	0.59083	0.517000	0.23534	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.9028:0.0:0.0972	9.757	0.39675	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1812.33	35	chr4	173529010	.	C	T	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=746;ExcessHet=0;FS=1.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.46;SOR=0.876	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1826,0,1444	18	0	1	0
chr4	176687827	176687827	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon5:c.G805A:p.G269R	Lymphedema, hereditary, ID, Autosomal dominant	426	1092	4	0	0	4	0.00182815	.	.	.	1678374	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.00190281428305	0.0005	0.000199681	0.0005	0.0003	0.0004	0	0	0.0006	0	0.0003	0.0003881	60	154602	rs200182587	0.0003	0.0003	0.0003	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	0.0003	0.0004	0.0001	2.526e-05	5.621e-05	0.0021	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0001	0	0.0005	0	0	0	0	0.0005	0.0009	0.0002	.	.	.	0.456	0.12740	T	0.361	0.33905	B	0.08	0.28873	B	0.293628	0.14723	N	0.667560	0.988206	0.24436	N	2.14	0.59869	M	.	.	.	.	.	.	0.429	0.46835	-0.9694	0.37324	T	0.135	0.44933	T	9	0.09688923	0.17411	T	0.001903	0.03351	T	.	.	0.173	0.07894	0.338834610459	0.33488	0.4518646572817801	0.45104	.	.	0.377613306046	0.21918	T	0.273117	0.64554	T	-0.295824	0.09058	T	-0.315536	0.43061	T	0.0378680527210236	0.03310	T	0.59804	0.22252	T	0.09629886	0.22679	0.11062325	0.26674	0.09629886	0.22678	0.11062325	0.26674	-4.848	0.35145	T	.	.	0.079	0.07083	B	.	.	2.782802	0.36562	20.3	0.99572157510162251	0.72440	0.87758	0.47407	D	AEFBI	0.470609	0.51650	N	0.00655748355890749	0.42154	2.534489	0.0867290935354254	0.43879	2.680666	0.999985346233981	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	4.186000	0.58135	5.962000	0.51841	0.594000	0.32500	0.845000	0.30364	0.858000	0.27459	0.337000	0.25363	0.0:1.0:0.0:0.0	19.401	0.94618	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1455.33	34	chr4	176687827	.	C	T	1455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=750;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.455;SOR=0.985	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1469,0,906	18	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,24:73:99:.:.:270,0,1441:.	4	0	14	1
chr4	176711632	176711632	G	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C571T:p.P191S	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.012111681447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.501e-06	6.628e-05	6.356e-06	1.262e-05	3.735e-05	5.07e-06	4e-06	9.92e-06	4.75e-06	0	0	4.437e-05	0	0	0	8.388e-06	0	3.735e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.39190	T	0.969	0.56768	D	0.506	0.47823	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.05	0.26816	L	.	.	.	.	.	.	0.801	0.79696	-0.7984	0.55238	T	0.197	0.55215	T	9	0.78304553	0.78015	D	0.012112	0.30386	T	.	.	0.392	0.41606	0.422160833541	0.41830	0.5775749913387078	0.57686	.	.	0.679022789001	0.64128	T	0.802173	0.94968	D	0.204474	0.74311	D	0.0559363	0.73976	D	0.992387890815735	0.82850	D	0.867413	0.56831	D	0.8505967	0.87380	0.63900787	0.78915	0.8505967	0.87381	0.63900787	0.78916	-10.241	0.75342	D	.	.	0.811	0.77802	P	.	.	5.240050	0.87964	29.4	0.99773676887447327	0.86174	0.99034	0.90260	D	AEFDGBIJ	0.931855	0.92131	D	0.636068179106001	0.75470	6.311549	0.729981346275755	0.84655	8.352862	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2813.26	78	chr4	176711632	.	G	A	2813.26	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.025;DP=1646;ExcessHet=17.0548;FS=123.578;InbreedingCoeff=-0.6179;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=0.728;SOR=11.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,15:70:93:.:.:110,0,1451:.	17	0	1	1
chr4	183674771	183674771	G	A	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon6:c.G619A:p.V207M,TRAPPC11:NM_199053:exon6:c.G619A:p.V207M	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	449	1071	2	0	0	2	0.000932836	.	.	.	563623	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.642	0.0085678916885	.	0.000199681	8.285e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs201181808	1.456e-05	1.573e-05	1.793e-05	1.115e-05	1.809e-05	9.36e-06	7.94e-06	1.182e-05	9.6e-06	0	0	0	0	0	0	1.809e-05	0	1.217e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.998	0.77913	D	0.858	0.70027	P	0.000010	0.62929	D	0.109669	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.81	0.81162	-0.1042	0.80002	T	0.515	0.81835	D	9	0.7756665	0.77438	D	0.008568	0.22655	T	0.642	0.86384	.	.	0.565975473979	0.56261	0.6224218247981242	0.62175	0.458982957277	0.45497	0.868730247021	0.92386	D	0.244772	0.61396	T	0.314946	0.84109	D	0.32468	0.89288	D	0.869926571846008	0.51985	D	0.968003	0.88371	D	0.32241523	0.54843	0.4253463	0.66346	0.32241523	0.54843	0.4253463	0.66346	-10.134	0.74710	D	0.8403159146604614	0.90899	0.823	0.78398	P	.;.	.;.	4.803346	0.78067	26.8	0.99893749757741279	0.96742	0.97910	0.78054	D	AEFGBI	0.869602	0.79021	D	0.856438079296105	0.89471	9.985738	0.853800972483739	0.93237	11.91123	0.99999999999831	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	7.972000	0.87634	11.687000	0.94301	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.359	0.98850	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1832.81	33	chr4	183674771	.	G	A	1832.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=1.392	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1860,183,0	18	1	0	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:101,26:127:99:360,0,2930	11	0	7	1
chr5	11385163	11385165	GCG	-	exonic	CTNND2	.	nonframeshift deletion	CTNND2:NM_001288715:exon6:c.404_406del:p.P135del,CTNND2:NM_001332:exon7:c.677_679del:p.P226del	.	75	1424	11	2	10	25	0.00523926	.	.	.	1309249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs899866060	0.0007	0.0050	0.0006	0.0009	0.0065	0.0007	0.0007	0.0048	0.0042	0.0010	0.0044	0.0017	0.0065	0.0091	0.0011	0.0006	0.0008	0.0010	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	4.942e-05	0	0.0003	0	0.0002	0.0001	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	152.03	15	chr5	11385162	.	CGCG	C	152.03	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.28;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=0.1984;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=30.41;ReadPosRankSum=1.28;SOR=1.981	GT:AD:DP:GQ:PL	0/1:1,4:5:30:165,0,30	17	0	1	1
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	434.77	112	chr5	36976312	.	G	C	434.77	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.913;DP=2363;ExcessHet=0.7564;FS=233.054;InbreedingCoeff=-0.3099;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.42;SOR=10.893	GT:AD:DP:GQ:PL	0/1:83,28:114:92:92,0,1568	5	0	4	10
chr5	56111706	56111706	G	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon10:c.C1042A:p.Q348K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0094878129177	.	0.000399361	5.422e-05	0	0	0	0	0	0	0.0007	5.17e-05	8	154602	rs551715515	2.847e-05	2.942e-05	1.434e-05	4.313e-05	0.0005	2.132e-05	1.872e-05	0.0004	0.0003	0	0	0	0	0	0	0	7.093e-05	0.0005	3.942e-05	3.938e-05	3.857e-05	4.031e-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	0.006	0.61437	D	0.029	0.55759	D	.	.	.	.	.	.	0.000601	0.43095	D	0.157726	0.999405	0.47544	D	2.32	0.66415	M	1.27	0.40218	T	-0.53	0.49846	N	0.171	0.44379	-1.0034	0.28933	T	0.158	0.49076	T	10	0.04877746	0.04375	T	0.009488	0.24855	T	0.116	0.32463	.	.	0.400468435593	0.39662	0.46977584308820625	0.46896	0.492894575392	0.47914	0.422169834375	0.28135	T	0.010057	0.09113	T	-0.225616	0.17233	T	-0.210139	0.53683	T	0.232345687852518	0.22062	T	0.854015	0.57909	D	0.26539057	0.49608	0.25556707	0.51242	0.26539057	0.49608	0.25556707	0.51241	-0.61	0.01285	T	.	.	0.093	0.31151	B	.;.;.	.;.;.	2.904428	0.38503	20.8	0.99263263036838767	0.57289	0.85225	0.44339	D	AEFBHCI	0.591323	0.58747	D	0.431014495448309	0.63136	4.541521	0.499481935875944	0.67957	5.154021	0.999999999983484	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	4.320000	0.58993	11.662000	0.93998	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	19.789	0.96446	313	0.87327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1090.33	35	chr5	56111706	.	G	T	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.353;DP=1529;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.766;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,44:112:99:0|1:56111706_G_T:1104,0,1945:56111706	18	0	1	0
chr5	61543995	61543995	G	A	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon14:c.G3326A:p.R1109H	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1397824	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.336	0.0229286943236	0.0002	0.000199681	9.024e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs372466113	3.001e-05	3.078e-05	2.679e-05	3.332e-05	5.596e-05	2.247e-05	1.992e-05	2.618e-05	2.292e-05	0	2.801e-05	0	5.596e-05	0	0	3.522e-05	1.722e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.418e-05	0	2.94e-05	0	0	0.071	0.35165	T	0.169	0.30534	T	0.931	0.51899	P	0.479	0.47059	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.77	0.49642	T	-3.55	0.68764	D	0.591	0.61087	-0.8531	0.51753	T	0.169	0.50971	T	10	0.2793697	0.45509	T	0.022929	0.45860	T	0.336	0.65816	.	.	0.335414705075	0.33150	0.828769869571503	0.82834	1.10135512273	0.77744	0.913442134857	0.97785	D	0.095398	0.39612	T	-0.0109345	0.50136	T	-0.106155	0.62917	T	0.785958051681519	0.45427	D	0.999716	0.99924	D	0.36527285	0.58234	0.23815246	0.49130	0.36527285	0.58234	0.23815246	0.49129	-8.776	0.66244	D	0.17420137303793626	0.22110	0.190	0.40826	B	.	.	5.494335	0.91516	32	0.9991952703535627	0.98654	0.99289	0.94010	D	AEFGBI	0.858178	0.77564	D	0.585564630054643	0.72275	5.779863	0.618771652607927	0.76305	6.466291	1.0	0.98316	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	9.553000	0.97219	11.925000	0.99859	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.150	0.89602	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2433.33	33	chr5	61543995	.	G	A	2433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=808;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.94;SOR=0.741	GT:AD:DP:GQ:PL	0/1:102,84:186:99:2447,0,2730	18	0	1	0
chr5	63961685	63961685	G	C	exonic	HTR1A	.	nonsynonymous SNV	HTR1A:NM_000524:exon1:c.C35G:p.T12S	Periodic fever, menstrual cycle dependent, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0483501195712	.	.	1.672e-05	0	0	0	0	3.045e-05	0	0	1.29e-05	2	154602	rs199681622	1.026e-05	1.026e-05	1.362e-05	6.878e-06	1.169e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.91255	T	0.608	0.07741	T	0.278	0.32022	B	0.057	0.26280	B	0.489648	0.12072	N	0.754399	0.866911	0.35490	D	0	0.06538	N	0.02	0.62318	T	-0.49	0.74051	N	0.537	0.56489	-0.8653	0.50878	T	0.154	0.48498	T	10	0.18703598	0.34196	T	0.04835	0.63331	D	0.087	0.25287	0.202	0.11659	0.619622683959	0.61654	0.2957656024512221	0.29489	1.08353906917	0.77205	0.532051324844	0.43324	T	0.17154	0.51970	T	-0.0453052	0.45159	T	-0.282583	0.46539	T	0.291986145129156	0.24672	T	0.547445	0.26653	T	0.11805628	0.27821	0.09595552	0.22780	0.11805628	0.27821	0.09595552	0.22779	-2.578	0.06337	T	.	.	0.073	0.25592	B	.;.	.;.	2.634915	0.34271	19.58	0.79201400558894497	0.12635	0.93493	0.58367	D	AEFDBCI	0.753277	0.69352	D	-0.0962532482951009	0.37555	2.18669	0.0319840623685088	0.41210	2.471956	0.999367201444342	0.39301	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.71	4.71	0.59010	9.530000	0.97114	11.539000	0.93124	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.497000	0.28949	0.0:0.0:1.0:0.0	16.642	0.84985	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	727.33	41	chr5	63961685	.	G	C	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0;SOR=0.769	GT:AD:DP:GQ:PL	0/1:34,29:63:99:741,0,948	18	0	1	0
chr5	73870081	73870081	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon13:c.C1499T:p.S500F,ARHGEF28:NM_001080479:exon21:c.C2438T:p.S813F,ARHGEF28:NM_001177693:exon21:c.C2438T:p.S813F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00908756903042	.	.	8.29e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769938527	2.054e-06	2.052e-06	1.362e-06	2.752e-06	5.039e-05	5.5e-07	1.5e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.022	0.59732	D	0.794	0.56581	P	0.659	0.52771	P	.	.	.	.	0.771472	0.29432	N	1.15	0.29295	L	3.1	0.09822	T	-3.37	0.66780	D	0.174	0.24758	-1.0419	0.16741	T	0.060	0.25127	T	9	0.15202084	0.28722	T	0.009088	0.23917	T	0.155	0.40530	0.409	0.44395	0.256793551483	0.25290	0.43745099749524163	0.43662	0.0853455047791	0.09647	0.396597385406	0.24595	T	0.157341	0.49990	T	-0.37218	0.03485	T	-0.480238	0.24421	T	0.478536784648895	0.31844	T	0.939106	0.77081	D	0.23077469	0.45838	0.26226515	0.52016	0.23077469	0.45838	0.26226515	0.52015	-9.025	0.67858	D	.	.	0.210	0.43828	B	.;.;.;.;.;.	.;.;.;.;.;.	2.984992	0.39833	21.0	0.99586762978710897	0.73336	0.95795	0.66186	D	AEFBI	0.302023	0.41039	N	0.121938476345802	0.47487	2.974	0.139684431900981	0.46597	2.903211	0.999495871644561	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.95	5.09	0.68647	2.324000	0.43491	3.345000	0.37739	-0.171000	0.11205	0.956000	0.33378	0.998000	0.33993	0.993000	0.69303	0.1101:0.829:0.0:0.0609	14.364	0.66355	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	94.71	33	chr5	73870081	.	C	T	94.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.234;DP=760;ExcessHet=0;FS=69.758;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=-0.446;SOR=6.665	GT:AD:DP:GQ:PL	0/1:54,27:81:99:108,0,849	17	0	1	1
chr5	75210859	75210859	C	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon4:c.G295C:p.D99H,ANKRD31:NM_001372053:exon4:c.G295C:p.D99H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0747051175346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.122	0.35710	T	0.999	0.77913	D	0.946	0.68276	D	.	.	.	.	0.967462	0.25847	N	0.695	0.17993	N	0.09	0.68181	T	-2.29	0.50992	N	0.487	0.52119	-0.6941	0.60717	T	0.305	0.67621	T	9	0.19682926	0.35590	T	0.074705	0.72106	D	0.122	0.33800	0.178	0.08503	0.328486982098	0.32448	0.01750605574355007	0.01705	.	.	0.352389812469	0.18273	T	0.006918	0.06344	T	-0.0404339	0.45883	T	-0.295857	0.45159	T	0.714345831223318	0.41414	D	0.550145	0.18957	T	0.2723489	0.50304	0.29357985	0.55386	0.2723489	0.50304	0.29357985	0.55385	-4.441	0.30109	T	.	.	0.199	0.45372	B	.;.	.;.	3.246978	0.44348	21.9	0.98542813697964804	0.42745	0.78716	0.38878	D	AEFBI	0.162845	0.28906	N	0.259935187243343	0.54132	3.579596	0.225904117519691	0.51289	3.312775	0.00205329967926024	0.09120	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.41	4.41	0.52588	0.527000	0.22695	1.216000	0.24942	0.549000	0.26987	0.997000	0.40164	0.997000	0.33255	0.570000	0.30651	0.0:1.0:0.0:0.0	12.693	0.56355	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1462.33	43	chr5	75210859	.	C	G	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.04;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1476,0,2113	18	0	1	0
chr5	109845928	109845928	A	G	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon18:c.A2764G:p.M922V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0952280158047	.	.	0.0001	0	0.0010	0	0	5.997e-05	0.0011	6.058e-05	0.00011	17	154602	rs772319096	6.364e-05	6.43e-05	6.672e-05	6.052e-05	0.0005	5.296e-05	4.912e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.757e-05	4.968e-05	4.639e-05	1.314e-05	1.313e-05	2.569e-05	0	6.542e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.542e-05	0	0	0	0	0	0	0	0.017	0.51248	D	0.172	0.30241	T	0.888	0.48822	P	0.688	0.53700	P	0.000000	0.84330	D	0.087419	0.996278	0.43112	D	3.325	0.90780	M	-1.22	0.78752	T	-2.45	0.53577	N	0.615	0.63120	0.134	0.84769	D	0.584	0.85079	D	10	0.4641788	0.59468	T	0.095228	0.76392	D	0.500	0.78350	.	.	0.762928649547	0.76077	0.5653252155104924	0.56459	0.233320805752	0.25866	0.482184231281	0.36358	T	0.534187	0.83934	D	-0.125006	0.32307	T	-0.0767902	0.65138	T	0.491002231836319	0.32301	T	0.938806	0.76978	D	0.40752897	0.61251	0.42228964	0.66135	0.40752897	0.61251	0.42228964	0.66135	-10.231	0.75283	D	.	.	0.126	0.26700	B	.	.	4.150763	0.62260	24.4	0.99482976132090783	0.67014	0.97303	0.73904	D	AEFDGBI	0.678484	0.64283	D	0.57515320747178	0.71627	5.679609	0.540328387700418	0.70728	5.547912	0.999992408406337	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	6.381000	0.73094	9.309000	0.79942	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	1.0:0.0:0.0:0.0	15.916	0.79308	729	0.54495	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	35	chr5	109845928	.	A	G	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.765;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.439;SOR=0.681	GT:AD:DP:GQ:PL	0/1:113,89:202:99:2037,0,2938	18	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	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,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	625.71	48	chr5	119499449	.	T	C	625.71	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.063;DP=1334;ExcessHet=2.0135;FS=121.192;InbreedingCoeff=-0.1823;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.66;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,21:110:48:.:.:48,0,2257:.	13	0	6	0
chr5	126568276	126568276	A	G	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001182:exon9:c.T854C:p.M285T,ALDH7A1:NM_001201377:exon9:c.T770C:p.M257T,ALDH7A1:NM_001202404:exon9:c.T854C:p.M285T	Epilepsy, pyridoxine-dependent, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0184746040041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.03741	T	0.619	0.07468	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.075553	0.999994	0.58761	D	-1.285	0.00728	N	-0.9	0.74896	T	0.26	0.04380	N	0.405	0.45426	-0.9217	0.45320	T	0.120	0.41971	T	10	0.23264083	0.40264	T	0.018475	0.40558	T	0.239	0.54358	0.432	0.48171	0.720981639776	0.71852	0.6922387523905483	0.69163	0.17501643723	0.19701	0.745290160179	0.73751	T	0.001344	0.48565	T	-0.00413354	0.51084	T	-0.243714	0.50435	T	0.776105225086212	0.44809	D	0.867413	0.57103	D	0.3385705	0.56165	0.18346637	0.41338	0.3385705	0.56166	0.18346637	0.41337	-5.818	0.44731	T	.	.	0.148	0.45273	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.302927	0.29470	18.13	0.82613504305677932	0.14283	0.94072	0.60028	D	AEFDBI	0.610133	0.59907	D	-0.386253099413398	0.25958	1.413067	-0.104697884334952	0.35200	2.033702	0.469768434842208	0.20697	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	4.090000	0.57417	4.631000	0.44116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8455:0.0:0.0:0.1545	9.705	0.39375	684	0.59539	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr5	126568276	.	A	G	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.995;DP=747;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.17;SOR=0.462	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1369,0,1752	18	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,9:68:29:.:.:29,0,889:.	6	0	8	5
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,53:201:99:0|1:141303079_C_G:717,0,4866:141303079	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,53:201:99:0|1:141303079_C_G:717,0,4866:141303079	1	0	18	0
chr5	141340836	141340836	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1865G:p.H622R,PCDHGA2:NM_032009:exon1:c.A1865G:p.H622R	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0248357121544	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005627	87	154602	rs202222956	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0054	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	9.76e-05	0.0035	0.0030	2.428e-05	0	0	0	0	0	0	0	0	0.0051	0.202	0.20230	T	0.305	0.20037	T	0.037	0.33132	B	0.072	0.41976	B	0.000535	0.43581	U	0.000000	1	0.81001	D	1.055	0.26876	L	0.77	0.49642	T	-6.96	0.93509	D	0.21	0.26837	-0.9816	0.34632	T	0.116	0.41097	T	10	0.013607442	0.00288	T	0.024836	0.47825	T	0.181	0.45247	0.738	0.87063	0.774417490788	0.77234	0.3913319132458981	0.39048	0.698038861042	0.60942	.	.	.	0.042081	0.26068	T	-0.464882	0.00916	T	-0.43918	0.28900	T	0.101806587813631	0.12554	T	0.760924	0.38541	T	0.44997874	0.64039	0.5485215	0.73899	0.44997874	0.64040	0.5485215	0.73899	-7.53	0.57891	D	.	.	0.203	0.42777	B	.;.	.;.	3.608472	0.51007	23.0	0.83649887336518924	0.14843	0.95747	0.65982	D	AEFBHI	0.427587	0.49147	N	-0.24227206795838	0.31412	1.761131	-0.147496765560598	0.33505	1.917236	0.0164244057109645	0.12830	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	3.97	0.45241	4.496000	0.60081	.	.	0.686000	0.82685	0.999000	0.42656	1.000000	0.68203	0.478000	0.28520	0.9247:0.0:0.0753:0.0	10.916	0.46348	711	0.56613	.;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	.	.	.	.	.	.	.	.	0.02632	1580.33	34	chr5	141340836	.	A	G	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.097;DP=1034;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=0.321;QD=12.95;ReadPosRankSum=0.287;SOR=0.726	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1594,0,1536	18	0	1	0
chr5	141431453	141431453	G	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G694A:p.V232I,PCDHGA12:NM_032094:exon1:c.G694A:p.V232I	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0187671656912	.	0.00159744	0.0013	0	0	0	0	0	0.0011	0.0097	0.0010996	170	154602	rs201704748	0.0006	0.0006	0.0003	0.0008	0.0095	0.0006	0.0005	0.0089	0.0087	0	2.236e-05	0	0	0	0.0005	2.698e-06	0.0006	0.0095	0.0004	0.0004	0.0002	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	6.531e-05	0	0	0	0	0	0	0.0114	0.041	0.41915	D	0.064	0.46182	T	0.949	0.55135	P	0.652	0.61001	P	.	.	.	.	1	0.81001	D	2.11	0.58565	M	0.1	0.61326	T	-0.93	0.24898	N	0.323	0.36884	-0.6125	0.64300	T	0.350	0.71439	T	9	0.008258879	0.00187	T	0.018767	0.40941	T	0.334	0.65620	0.559	0.67821	0.679713862216	0.67699	0.15180183106835163	0.15102	.	.	.	.	.	0.044019	0.26686	T	-0.319656	0.06926	T	-0.223979	0.52353	T	0.196006767305303	0.20193	T	0.888211	0.61727	D	0.07671265	0.17367	0.06906135	0.14504	0.07671265	0.17366	0.06906135	0.14504	-8.42	0.64502	D	.	.	0.137	0.29887	B	.;.	.;.	3.643778	0.51676	23.1	0.99184634471449495	0.54789	0.98844	0.87601	D	AEFDGBHIJ	0.863072	0.78152	D	0.480255808093299	0.65938	4.885892	0.35643325449226	0.58895	4.063198	0.999999999998387	0.74766	0.646311	0.45356	0	0.296712	0.05252	1	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.89	4.89	0.63387	8.183000	0.89647	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0836:0.0:0.9164:0.0	11.356	0.48852	818	0.41518	.;Cadherin-like|Cadherin conserved site|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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2483.33	37	chr5	141431453	.	G	A	2483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.284;DP=837;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.52;SOR=0.673	GT:AD:DP:GQ:PL	0/1:90,93:183:99:2497,0,2459	18	0	1	0
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	2870.83	35	chr5	147828053	.	G	A	2870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.07;SOR=0.726	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1485,0,1251	17	0	2	0
chr5	151335472	151335472	A	G	exonic	SLC36A2	.	nonsynonymous SNV	SLC36A2:NM_181776:exon6:c.T601C:p.S201P	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.01068083903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.194	0.34596	T	0.197	0.33860	B	0.223	0.41696	B	0.000000	0.84330	D	0.000000	0.999838	0.49637	D	2.715	0.79425	M	4.29	0.02462	T	-2.63	0.58085	D	0.918	0.93487	-0.9853	0.33760	T	0.016	0.06521	T	10	0.7897085	0.78553	D	0.010681	0.27493	T	0.236	0.53931	0.594	0.72371	0.307016933798	0.30308	0.722023448050549	0.72146	0.654683913023	0.58537	0.423007100821	0.28250	T	0.008098	0.13236	T	0.186961	0.72684	D	0.0307801	0.72328	D	0.987436652183533	0.77930	D	0.861714	0.55578	D	0.7940248	0.83526	0.92359656	0.96650	0.7940248	0.83528	0.92359656	0.96651	-6.702	0.51825	T	0.3718445845299834	0.46726	0.151	0.42346	B	.;.	.;.	3.178897	0.43146	21.7	0.9972326098703046	0.82195	0.95479	0.64884	D	AEFGBI	0.870441	0.79141	D	0.13977332762854	0.48327	3.046457	0.216943243397948	0.50785	3.26716	0.251707482428216	0.18687	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	4.52	0.54797	5.757000	0.68422	8.068000	0.76428	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	1.0:0.0:0.0:0.0	14.294	0.65855	804	0.43891	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	33	chr5	151335472	.	A	G	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.545;DP=787;ExcessHet=0;FS=1.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.951;SOR=0.55	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1714,0,1967	18	0	1	0
chr5	153492277	153492277	T	C	exonic	GRIA1	.	nonsynonymous SNV	GRIA1:NM_001258021:exon1:c.T79C:p.F27L,GRIA1:NM_001258022:exon1:c.T79C:p.F27L,GRIA1:NM_001364166:exon2:c.T76C:p.F26L	.	7	1506	9	0	0	9	0.00297915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104068898115	.	0.000199681	0.0003	0	0	0	.	0	0	0.0004	0.0001164	18	154602	rs564579711	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	9.495e-05	0.0001	0	0	0	0.0004	0.0009	0.0004	0.0005	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0003	0	0	0	0.0034	0.0004	0	0.0002	0.582	0.06184	T	0.651	0.06836	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.88	0.10291	T	0.26	0.04380	N	0.156	0.16168	-1.0149	0.25368	T	0.012	0.04795	T	8	0.038315028	0.02242	T	0.010407	0.26915	T	0.069	0.20116	0.479	0.55823	0.202312658747	0.19855	0.24581018342109018	0.24495	0.447665245201	0.44623	0.613020300865	0.54742	T	.	.	.	-0.532154	0.00373	T	-0.655007	0.08607	T	0.0789424888082525	0.09851	T	0.428957	0.11607	T	.	.	.	.	.	.	.	.	-2.245	0.04265	T	.	.	0.397	0.62878	A	.;.	.;.	2.072113	0.26352	17.09	0.98059661814881915	0.37936	0.87877	0.47570	D	AEFBI	0.182773	0.31010	N	-0.36370835200737	0.26771	1.463648	-0.184973916691524	0.32088	1.822142	0.999985271850965	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.475579	0.07313	0	0.530356	0.10902	0	.	.	5.46	4.29	0.50359	2.033000	0.40757	2.170000	0.31047	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0922:0.0:0.9078	8.033	0.29636	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1567.33	33	chr5	153492277	.	T	C	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.057;SOR=0.709	GT:AD:DP:GQ:PL	0/1:85,65:150:99:1581,0,2403	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:69,52:128:99:585,0,1092	4	0	14	1
chr5	160259745	160259745	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_001308173:exon4:c.G307A:p.V103I,CCNJL:NM_024565:exon5:c.G451A:p.V151I	.	430	1072	19	1	0	21	0.00969977	.	.	.	2825503	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.246	.	0.0067	0.00459265	0.0072	0.0030	0.0075	0	0.0009	0.0106	0.0046	0.0015	0.0072056	1114	154602	rs139134014	0.0098	0.0098	0.0101	0.0095	0.0117	0.0097	0.0096	0.0115	0.0114	0.0019	0.0076	0.0054	5.042e-05	0.0013	0.0116	0.0117	0.0088	0.0015	0.0069	0.0069	0.0076	0.0062	0.0110	0.0066	0.0064	0.0104	0.0101	0.0024	0	0.0091	0.0072	0	0.0008	0.0204	0.0110	0.0118	0.0008	0.2	0.20381	T	0.091	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000007	0.62929	D	0.063541	0.999999	0.58761	D	1.89	0.50145	L	2.33	0.16492	T	-0.46	0.16393	N	0.59	0.61002	-1.1211	0.02263	T	0.048	0.20592	T	10	0.009744018	0.00219	T	.	.	.	0.246	0.55340	.	.	0.334659703779	0.33074	0.28574121202124275	0.28487	0.682714212984	0.60129	0.49708211422	0.38421	T	0.007417	0.06827	T	-0.416459	0.01803	T	-0.359315	0.38131	T	0.06378534530485	0.07750	T	0.830817	0.52533	T	0.024704264	0.01329	0.04469099	0.05848	0.024704264	0.01329	0.04469099	0.05847	-3.643	0.18481	T	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	3.618382	0.51192	23.1	0.99405797233699356	0.63028	0.97474	0.74982	D	AEFBI	0.769500	0.70474	D	0.0687260831938042	0.45009	2.764684	0.018617222673971	0.40579	2.424038	0.999999997513203	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.56	0.55644	7.856000	0.85294	4.940000	0.46203	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9253:0.0:0.0747	13.788	0.62612	925	0.17918	Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-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	0.009567	0.000000	0.014946	0.000000	0.000000	0.051724	0.009146	0.003788	0.05263	2015.81	34	chr5	160259745	.	C	T	2015.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.17;SOR=1.316	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2043,177,0	18	1	0	0
chr5	168669828	168669828	A	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon35:c.T4312G:p.Y1438D,SLIT3:NM_003062:exon35:c.T4291G:p.Y1431D	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0300147469879	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902684983	6.841e-06	6.84e-06	4.084e-06	9.626e-06	0.0004	3.46e-06	2.52e-06	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	6.295e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.051	0.49942	T	0.293	0.32367	B	0.281	0.40336	B	0.135581	0.18477	N	0.602379	0.938156	0.37215	D	2.57	0.75187	M	-0.95	0.75438	T	-4.46	0.77798	D	0.597	0.61596	-0.5329	0.67432	T	0.334	0.70117	T	10	0.36863098	0.53300	T	0.030015	0.52415	D	0.328	0.65026	0.411	0.44723	0.667616128244	0.66481	0.5556478276069194	0.55491	0.597786943548	0.54967	0.27297180891	0.06532	T	0.444537	0.78791	T	0.0368201	0.56627	T	-0.169401	0.57498	T	0.522493898868561	0.33457	D	0.758824	0.38273	T	0.34948733	0.57027	0.37325516	0.62516	0.34948733	0.57027	0.37325516	0.62516	-12.792	0.88488	D	.	.	0.223	0.45421	B	.;.;.	.;.;.	2.702644	0.35308	19.86	0.98296729955061823	0.40002	0.88288	0.48148	D	AEFGBI	0.498232	0.53242	N	-0.229291296184494	0.31936	1.795872	-0.218873661608574	0.30860	1.741224	0.326312131995792	0.19437	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.13	0.00925	0.13400	1.382000	0.33980	2.264000	0.31782	0.756000	0.94297	1.000000	0.71638	0.994000	0.32194	0.995000	0.73285	0.7125:0.0:0.2875:0.0	8.987	0.35162	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1832.81	34	chr5	168669828	.	A	C	1832.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.15;SOR=1.453	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1860,171,0	18	1	0	0
chr5	170811981	170811981	T	C	exonic	GABRP	.	nonsynonymous SNV	GABRP:NM_014211:exon10:c.T1046C:p.V349A	.	435	1070	17	0	0	17	0.00788132	.	.	.	2825563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.438	0.0499924964689	0.0063	0.00319489	0.0045	0.0024	0.0035	0	0.0026	0.0058	0.0066	0.0040	0.0044501	688	154602	rs61733087	0.0063	0.0063	0.0064	0.0062	0.0082	0.0062	0.0062	0.0068	0.0068	0.0013	0.0029	0.0081	0	0.0030	0.0082	0.0070	0.0083	0.0045	0.0046	0.0046	0.0051	0.0041	0.0069	0.0043	0.0042	0.0064	0.0062	0.0019	0	0.0048	0.0095	0	0.0015	0.0068	0.0069	0.0066	0.0039	0.87	0.02606	T	0.774	0.04416	T	0.01	0.15535	B	0.008	0.13708	B	0.064012	0.21983	N	0.490044	1	0.81001	D	0.835	0.21042	L	-2.11	0.86216	D	-1.07	0.27876	N	0.335	0.39356	-0.7041	0.60241	T	0.356	0.71842	T	10	0.004833728	0.00103	T	0.049992	0.64053	D	0.438	0.74235	.	.	0.768752833438	0.76663	0.6561368700911943	0.65549	0.371033562888	0.38606	0.560700178146	0.47366	T	0.101763	0.40883	T	-0.186771	0.22731	T	-0.03537	0.68012	D	0.0156340498510777	0.00358	T	0.60264	0.22576	T	0.115350276	0.27221	0.120660454	0.29116	0.115350276	0.27221	0.120660454	0.29115	-3.363	0.14563	T	.	.	0.116	0.23360	B	.;.	.;.	2.568384	0.33279	19.29	0.923580988693111	0.21761	0.74212	0.36301	D	AEFHCI	0.086939	0.17628	N	-0.223818698093124	0.32157	1.81064	0.00144745229989646	0.39782	2.364091	0.0173536962682188	0.12941	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	2.484000	0.44900	5.083000	0.47284	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.259	0.65621	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.010101	0.002717	0.008772	0.000000	0.008621	0.015244	0.000000	0.05263	3924.81	34	chr5	170811981	.	T	C	3924.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=888;ExcessHet=0;FS=4.357;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=32.71;ReadPosRankSum=1.49;SOR=1.198	GT:AD:DP:GQ:PL	1/1:1,119:120:99:3952,350,0	18	1	0	0
chr5	176336856	176336856	A	G	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308200:exon5:c.A634G:p.T212A,SIMC1:NM_198567:exon7:c.A1006G:p.T336A,SIMC1:NM_001308195:exon8:c.A2308G:p.T770A,SIMC1:NM_001308196:exon10:c.A2251G:p.T751A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0616652858154	.	.	2.477e-05	9.649e-05	0	0.0001	0	0	0	6.061e-05	1.94e-05	3	154602	rs749075865	8.21e-06	8.209e-06	8.168e-06	8.252e-06	0.0002	4.38e-06	3.46e-06	2.995e-05	2.038e-05	5.974e-05	0	0	7.557e-05	0	0.0002	0	0	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.027	0.56456	D	0.056	0.55341	T	0.928	0.73220	P	0.554	0.64886	P	0.004368	0.33816	N	0.235397	0.987143	0.26507	N	1.5	0.37844	L	0.51	0.55439	T	-1.81	0.56787	N	0.336	0.38848	-0.6889	0.60959	T	0.221	0.58396	T	10	0.23900738	0.41033	T	0.061665	0.68404	D	0.157	0.40909	0.262	0.20631	0.611762621539	0.60863	0.33724154832367537	0.33637	0.0970579765109	0.10963	0.496822059155	0.38385	T	0.042407	0.28578	T	-0.241663	0.15137	T	-0.29276	0.45485	T	0.129628106951714	0.15348	T	0.80302	0.45008	T	0.052521843	0.09808	0.057156164	0.10342	0.052521843	0.09807	0.057156164	0.10341	-3.667	0.21988	T	.	.	0.130	0.37083	B	.;.;.;.;.	.;.;.;.;.	3.528224	0.49492	22.8	0.99627066373154882	0.75776	0.77048	0.37841	D	AEFBI	0.118197	0.23122	N	0.267884664772356	0.54528	3.618205	0.222584189071638	0.51102	3.29579	0.628724772412114	0.21949	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	3.328000	0.51766	11.153000	0.87408	0.691000	0.84096	0.505000	0.26994	1.000000	0.68203	0.138000	0.19872	0.8169:0.0:0.0:0.1831	7.911	0.28952	491	0.76657	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1118.33	34	chr5	176336856	.	A	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=709;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.251;SOR=0.919	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1132,0,912	18	0	1	0
chr5	176584661	176584661	G	A	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon19:c.G2380A:p.V794I,CDHR2:NM_017675:exon19:c.G2380A:p.V794I	.	422	1087	12	1	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0240439603718	0.0004	0.00119808	0.0009	0	0.0003	0.0001	0	0.0006	0	0.0043	0.0008409	130	154602	rs143224505	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	5.974e-05	0.0002	0.0014	7.557e-05	1.874e-05	0.0057	0.0002	0.0009	0.0039	0.0004	0.0004	0.0004	0.0005	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0003	0.0020	0.0002	0	0	0.0004	0.0019	0.0035	0.154	0.24277	T	0.254	0.23433	T	0.675	0.41275	P	0.176	0.35644	B	.	.	.	.	1	0.08975	N	1.755	0.45626	L	0.62	0.53302	T	-0.79	0.21860	N	0.254	0.31365	-1.0498	0.14453	T	0.112	0.40145	T	9	0.0053726435	0.00118	T	0.024044	0.47032	T	0.071	0.20720	.	.	0.254244900254	0.25046	0.10977279913874849	0.10906	0.228800903671	0.25434	0.296510279179	0.09882	T	0.006037	0.05478	T	-0.478357	0.00756	T	-0.460424	0.26554	T	0.0136475769916794	0.00253	T	0.49795	0.15494	T	0.18506102	0.39851	0.21335422	0.45843	0.18506102	0.39851	0.21335422	0.45842	-6.03	0.46530	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	0.829131	0.12004	8.563	0.96004035337164362	0.28425	0.15609	0.18995	N	AEFDBI	0.127942	0.24551	N	-0.608308462619473	0.18694	0.9725935	-0.754924769477711	0.15601	0.821355	0.0453574441705733	0.14649	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.98	0.743	0.17496	0.296000	0.18839	0.785000	0.21516	0.665000	0.62972	0.000000	0.06391	0.102000	0.22686	0.001000	0.02609	0.2992:0.0:0.7008:0.0	10.107	0.41714	373	0.84140	Cadherin-like|Cadherin-like;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	1	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	2962.33	38	chr5	176584661	.	G	A	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=1164;ExcessHet=0;FS=5.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.668;SOR=1.022	GT:AD:DP:GQ:PL	0/1:99,106:205:99:2976,0,2508	18	0	1	0
chr5	176882104	176882104	T	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon16:c.A2077C:p.M693L	.	370	1150	2	0	0	2	0.00086881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.134480317267	.	0.000599042	0.0002	0	0.0002	0	0.0009	0.0002	0	0.0001	0.0001876	29	154602	rs188423746	0.0001	0.0001	0.0001	0.0001	0.0004	9.206e-05	8.671e-05	0.0002	0.0002	0	0.0004	0	0	0.0008	0	7.914e-05	0.0001	2.319e-05	0.0002	0.0002	0.0001	0.0003	0.0005	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0005	0	0	0.0009	0	0.0001	0	0	0.006	0.63226	D	0.079	0.42086	T	0.565	0.38434	P	0.696	0.54017	P	0.000003	0.62929	D	0.000000	1	0.81001	D	1.82	0.47800	L	-4.0	0.96339	D	-2.74	0.61284	D	0.787	0.78356	0.858	0.95125	D	0.873	0.95786	D	10	0.24072489	0.41237	T	0.13448	0.81691	D	0.935	0.98526	0.666	0.80401	0.977758231027	0.97751	0.6286343102624531	0.62796	0.524287970418	0.50117	0.610395789146	0.54372	T	0.512453	0.82790	D	0.259221	0.79457	D	0.389623	0.91767	D	0.51706063747406	0.33257	D	0.965003	0.87031	D	0.75619346	0.81229	0.815422	0.89246	0.75619346	0.81231	0.815422	0.89246	-9.134	0.68555	D	.	.	0.389	0.61114	A	.;.	.;.	4.001313	0.58965	24.0	0.98728273415497414	0.45304	0.98342	0.81813	D	AEFDBI	0.960960	0.98199	D	0.53689046652691	0.69288	5.335654	0.566954345101731	0.72585	5.833083	0.999999999999594	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.9	4.9	0.63643	8.017000	0.88732	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.661	0.68476	532	0.73501	Hexokinase, C-terminal;Hexokinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1244.33	40	chr5	176882104	.	T	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=742;ExcessHet=0;FS=3.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.399;SOR=1.095	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1258,0,1037	18	0	1	0
chr5	176888470	176888470	G	A	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon10:c.C1166T:p.A389V	.	.	.	.	.	.	.	.	.	.	.	3266677	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0379704692163	.	.	4.823e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs767209073	1.57e-05	2.189e-05	8.452e-06	2.314e-05	5.569e-05	1.028e-05	8.78e-06	1.042e-05	8.59e-06	0	5.569e-05	0	2.784e-05	0	0	1.667e-05	1.721e-05	0	3.285e-05	3.284e-05	1.285e-05	5.379e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.184	0.21634	T	0.244	0.24123	T	0.016	0.17332	B	0.009	0.14300	B	0.438132	0.04744	N	1.336330	1	0.08975	N	0.28	0.10031	N	-4.02	0.96402	D	-0.73	0.20576	N	0.087	0.06454	-0.2196	0.77161	T	0.670	0.88568	D	10	0.11292997	0.21199	T	0.03797	0.57939	D	0.221	0.51721	0.593	0.72247	0.776756999272	0.77470	0.15273200936221024	0.15195	0.110774659458	0.12502	0.294961541891	0.09652	T	0.153012	0.49367	T	-0.114452	0.34035	T	-0.402179	0.33131	T	0.0346992191681455	0.02757	T	0.562444	0.19755	T	0.06484363	0.13799	0.055147037	0.09618	0.06484363	0.13799	0.055147037	0.09618	-5.399	0.40910	T	.	.	0.080	0.07889	B	.	.	-0.957190	0.00834	0.028	0.90526889442204084	0.19783	0.04845	0.10577	N	AEFDBI	0.214118	0.33962	N	-1.63123628613568	0.01116	0.04848615	-1.69085451345766	0.01178	0.05302391	0.992842014311835	0.32989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-4.53	0.03217	-4.143000	0.00325	-4.692000	0.02031	-0.779000	0.03363	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3976:0.1726:0.1621:0.2677	0.543	0.00606	543	0.72751	Hexokinase, 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	.	.	.	.	.	.	.	.	0.02632	1022.33	33	chr5	176888470	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.033;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.805;SOR=0.587	GT:AD:DP:GQ:PL	0/1:31,36:67:99:1036,0,826	18	0	1	0
chr5	178247785	178247793	GGGGGGCCA	-	exonic	COL23A1	.	nonframeshift deletion	COL23A1:NM_173465:exon21:c.1251_1259del:p.P420_P422del	.	37	1479	5	0	1	6	0.00168748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0007	0.0044	0.0005	0.0002	0	0.0001	0	0.0019	0.0005563	86	154602	rs776434668	0.0004	0.0004	0.0003	0.0004	0.0040	0.0004	0.0003	0.0035	0.0033	0.0040	0.0003	0.0001	0.0017	0	0.0009	0.0001	0.0003	0.0017	0.0012	0.0012	0.0011	0.0013	0.0038	0.0010	0.0010	0.0033	0.0031	0.0038	0	0	0	0.0008	0	0	0.0001	0.0014	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1180.29	44	chr5	178247784	.	TGGGGGGCCA	T	1180.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=727;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.514;SOR=0.478	GT:AD:DP:GQ:PL	0/1:36,31:67:99:1194,0,1397	18	0	1	0
chr5	179345261	179345261	A	G	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon1:c.T68C:p.L23P,ADAMTS2:NM_021599:exon1:c.T68C:p.L23P	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	52	1338	108	2	22	134	0.0401722	.	.	.	359679	not_specified|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.117	0.0151494019149	.	0.00239617	0	0	.	0	0	0	0	0	0.0013447	35	26028	rs565885690	0.0107	0.0072	0.0107	0.0107	0.0257	0.0105	0.0104	0.0201	0.0180	0.0022	0.0075	0.0222	0	0.0086	0.0257	0.0111	0.0107	0.0022	0.0070	0.0071	0.0075	0.0066	0.0107	0.0067	0.0065	0.0100	0.0098	0.0018	0	0.0069	0.0170	0	0.0055	0.0182	0.0107	0.0099	0.0027	0.092	0.31682	T	0.223	0.28958	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.875907	0.28131	N	0	0.06538	N	0.13	0.61677	T	-0.73	0.21003	N	0.373	0.41459	-1.0476	0.15073	T	0.066	0.27225	T	9	0.006041169	0.00136	T	0.015149	0.35714	T	0.117	0.32689	.	.	0.535909150963	0.53241	0.6365244520002744	0.63586	0.652772849066	0.58453	0.9380453825	0.99379	D	0.263863	0.63558	T	-0.0978394	0.36782	T	-0.378316	0.35920	T	0.0726751704542566	0.09021	T	.	.	.	0.21793336	0.44289	0.26345006	0.52151	0.21793336	0.44288	0.26345006	0.52150	-3.9	0.22482	T	.	.	0.060	0.05404	B	.;.;.	.;.;.	1.772240	0.22535	15.66	0.52447129208029908	0.04750	0.25982	0.22860	N	AEFDBCI	0.056824	0.10534	N	-1.09628424126744	0.06711	0.3097219	-1.06715357423644	0.08353	0.4103412	0.99999999208237	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	0.944	-1.08	0.09428	-0.273000	0.08580	0.693000	0.20782	0.000000	0.17513	0.761000	0.29254	0.998000	0.33993	0.137000	0.19835	0.3302:0.0:0.6698:0.0	6.145	0.19497	738	0.53389	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027933	0.014706	0.040323	0.041096	0.187500	0.000000	0.021429	0.023256	0.02632	140.54	17	chr5	179345261	.	A	G	140.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=399;ExcessHet=0.3672;FS=2.644;InbreedingCoeff=-0.087;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.452;SOR=0.648	GT:AD:DP:GQ:PL	0/1:8,7:15:99:154,0,175	18	0	1	0
chr5	181059695	181059695	G	A	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.G1441A:p.A481T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0114047254831	.	.	8.479e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs755536857	1.026e-05	1.026e-05	1.089e-05	9.629e-06	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	1.079e-05	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.821	0.03817	T	0.004	0.12183	B	0.01	0.14941	B	0.788764	0.06699	N	1.157270	0.999998	0.08975	N	-0.925	0.01302	N	0.18	0.60361	T	-0.05	0.07736	N	0.029	0.00666	-1.0176	0.24495	T	0.045	0.19518	T	10	0.051376075	0.05008	T	0.011405	0.28987	T	0.040	0.10527	0.475	0.55182	0.292423486923	0.28857	0.13206284339967952	0.13131	0.265548230911	0.29109	0.472940653563	0.35084	T	0.007701	0.07089	T	-0.405057	0.02144	T	-0.638085	0.09810	T	0.0614690187895099	0.07398	T	0.049595	0.00352	T	0.038627148	0.05182	0.044900488	0.05921	0.038627148	0.05182	0.044900488	0.05921	-5.09	0.37802	T	.	.	0.077	0.06387	B	.	.	-1.042478	0.00713	0.021	0.92225904266905634	0.21600	0.00332	0.01732	N	AEFDBHI	0.065944	0.12889	N	-1.64608730252139	0.01052	0.04562725	-1.68647277103256	0.01198	0.05394228	0.999999996171341	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.22	-7.0	0.01443	-1.095000	0.03466	-1.246000	0.05919	-0.225000	0.07834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2159:0.4869:0.2028:0.0945	4.503	0.11285	.	.	SPRY domain|B30.2/SPRY domain|SPRY 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	.	.	.	.	.	.	.	.	0.02632	2372.33	49	chr5	181059695	.	G	A	2372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=1128;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.095;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2386,0,2493	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:45,22:67:30:30,0,708	7	0	12	0
chr6	26463393	26463393	A	G	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon3:c.A397G:p.M133V,BTN2A1:NM_001197234:exon4:c.A580G:p.M194V,BTN2A1:NM_007049:exon4:c.A580G:p.M194V,BTN2A1:NM_078476:exon4:c.A580G:p.M194V	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0048	0.00479233	0.0027	0.0090	0.0031	0.0002	0	0.0025	0.0044	0.0017	0.0026908	416	154602	rs142951857	0.0023	0.0023	0.0023	0.0024	0.0100	0.0023	0.0022	0.0092	0.0088	0.0100	0.0044	0.0275	7.557e-05	1.872e-05	0.0043	0.0016	0.0041	0.0016	0.0045	0.0045	0.0042	0.0047	0.0086	0.0042	0.0041	0.0079	0.0076	0.0086	0	0.0067	0.0256	0	0	0.0136	0.0016	0.0043	0.0017	0.779	0.32453	T	0.514	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.976613	0.07813	N	1.011740	1	0.08975	N	-0.395	0.03011	N	-0.87	0.74583	T	0.45	0.03191	N	0.049	0.02088	-1.0319	0.19841	T	0.039	0.16935	T	10	0.0032421052	0.00055	T	.	.	.	0.077	0.22490	.	.	0.18995819373	0.18626	0.17815481248216478	0.17734	0.0682658343424	0.07644	0.227097988129	0.01760	T	2.24E-4	0.00045	T	-0.529599	0.00386	T	-0.525975	0.19691	T	0.0018171477931748	0.00018	T	0.0768923	0.00566	T	0.1547285	0.35006	0.04013307	0.04266	0.1547285	0.35005	0.04013307	0.04266	-1.826	0.04316	T	.	.	0.059	0.00904	B	.;.;.;.	.;.;.;.	-0.535722	0.01757	0.133	0.28122043562808563	0.01429	0.03036	0.07924	N	AEFDBI	0.039652	0.05791	N	-1.2925197450257	0.03764	0.1687493	-1.26445586257887	0.04920	0.2332508	0.99956428555063	0.40425	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.88	1.71	0.23429	-0.546000	0.06152	-0.996000	0.06663	-0.093000	0.16093	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6131:0.2488:0.138:0.0	3.167	0.06149	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.002717	0.011696	0.000000	0.000000	0.009146	0.000000	0.02632	1997.33	45	chr6	26463393	.	A	G	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.864;DP=798;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.627;SOR=0.791	GT:AD:DP:GQ:PL	0/1:79,83:162:99:2011,0,2035	18	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	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	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.07895	5282.79	54	chr6	31138459	.	G	A	5282.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.83;DP=1719;ExcessHet=0.3672;FS=2.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.302;SOR=0.576	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1603,0,1575	16	0	3	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	28154.8	93	chr6	31356247	.	C	*	28154.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.65;DP=2188;ExcessHet=3.6106;FS=0.533;InbreedingCoeff=-0.1709;MLEAC=4;MLEAF=0.105;MQ=49.38;MQRankSum=-1.585;QD=15.54;ReadPosRankSum=-0.627;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,63:119:99:.:.:2832,340,1196:.	15	0	4	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:31356417_G_A:1640,0,1595:31356417	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,28:83:99:0|1:31356711_C_CGGAG:1010,0,2225:31356711	11	2	6	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,28:81:99:.:.:1016,0,2092:.	11	2	6	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,93:93:99:1|1:31356747_GCC_G:4165,280,0:31356747	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,80:169:99:0|1:31356809_C_T:3091,0,3486:31356809	3	7	9	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,28:109:99:0|1:31625601_T_C:624,0,2862:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,28:109:99:0|1:31625601_T_C:624,0,2862:31625601	1	0	16	2
chr6	31628149	31628149	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon12:c.C1675T:p.P559S,PRRC2A:NM_080686:exon12:c.C1675T:p.P559S	.	428	1083	11	0	0	11	0.00505282	.	.	.	3199434	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0030	0.00159744	0.0025	0.0009	0.0025	0.0001	0	0.0038	0.0114	0.0002	0.0023609	365	154602	rs45544132	0.0026	0.0026	0.0026	0.0026	0.0137	0.0025	0.0025	0.0113	0.0104	0.0005	0.0034	0.0072	2.519e-05	0.0001	0.0137	0.0028	0.0034	0.0003	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0017	0.0026	0.0023	0.0007	0	0.0033	0.0043	0	9.411e-05	0.0068	0.0027	0.0052	0	0.04	0.42199	D	0.121	0.35840	T	0.033	0.20350	B	0.021	0.19346	B	0.000127	0.49741	D	0.000000	0.999997	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	-2.09	0.47683	N	0.345	0.40765	-0.9255	0.44786	T	0.003	0.00864	T	10	0.0041169524	0.00081	T	.	.	.	0.107	0.30369	.	.	0.082315109003	0.07666	0.4673129211165125	0.46650	0.157380768537	0.17771	0.482505261898	0.36402	T	0.007995	0.07364	T	-0.500234	0.00570	T	-0.493749	0.22999	T	0.0114537539341068	0.00172	T	0.628837	0.24395	T	0.04677085	0.07884	0.07048211	0.14979	0.04677085	0.07884	0.07048211	0.14978	-4.479	0.30613	T	.	.	0.086	0.10739	B	.;.	.;.	1.810753	0.23013	15.85	0.77498029658026946	0.11901	0.51918	0.29008	D	AEFDBHCI	0.110001	0.21828	N	-0.362916833091831	0.26800	1.465476	-0.289755038708508	0.28435	1.585444	0.999922363772361	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.380000	0.43982	.	.	0.592000	0.32167	0.250000	0.24849	0.991000	0.31484	0.127000	0.19450	0.1989:0.8011:0.0:0.0	10.167	0.42059	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017429	0.010101	0.031250	0.005319	0.000000	0.017544	0.009146	0.011364	0.02632	1275.33	38	chr6	31628149	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.916;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.743;SOR=0.683	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1289,0,1033	18	0	1	0
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,13:188:19:0|1:32522096_A_AAG:19,0,7309:32522096	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,22:144:99:.:.:551,0,5091:.	1	6	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,130:301:99:0|1:32584162_G_T:4933,0,6778:32584162	8	0	8	3
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,136:313:99:0|1:32584162_G_T:5178,0,7023:32584162	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,64:318:99:0|1:32584366_C_T:2343,0,8688:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,50:249:99:0|1:32641430_C_T:1500,0,8205:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,50:249:99:0|1:32641430_C_T:1500,0,8205:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,47:261:99:0|1:32641430_C_T:1306,0,8753:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,47:261:99:0|1:32641430_C_T:1306,0,8753:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,49:272:99:0|1:32641476_G_A:1386,0,9216:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,54:273:99:0|1:32641476_G_A:1433,0,9008:32641476	4	4	11	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,26:242:99:0|1:32664911_T_G:442,0,8949:32664911	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,28:235:99:0|1:32664911_T_G:553,0,8608:32664911	12	0	7	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A,TAP2:NM_018833:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	3	1475	43	1	0	45	0.015025	.	.	.	363959	MHC_class_I_deficiency|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	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	1	0	0	1	0	1	0	0.020697	0.010101	0.033967	0.015957	0.050000	0.008772	0.006098	0.015152	0.05263	1567.83	34	chr6	32838190	.	A	G	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=688;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=1.01;SOR=0.69	GT:AD:DP:GQ:PL	0/1:12,26:38:99:709,0,276	17	0	2	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S,PSMB8:NM_148919:exon2:c.A220T:p.T74S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	0	1475	46	1	0	48	0.0160107	.	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Proteosome-associated_autoinflammatory_syndrome|not_specified|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019063	0.010101	0.031250	0.010638	0.050000	0.008621	0.006098	0.015152	0.05263	3964.83	41	chr6	32843017	.	T	A	3964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.26;DP=898;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.261;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,55:129:99:0|1:32843015_G_T:2066,0,2942:32843015	17	0	2	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,25:137:99:.:.:313,0,2271:.	12	0	6	1
chr6	35959470	35959470	G	A	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon14:c.C1538T:p.P513L,SLC26A8:NM_001193476:exon16:c.C1853T:p.P618L,SLC26A8:NM_052961:exon16:c.C1853T:p.P618L	Spermatogenic failure 3, Autosomal dominant	431	1078	13	0	0	13	0.00599355	.	.	.	2733220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.173972452045	0.0003	0.000199681	0.0003	0.0001	0.0003	0.0001	0	0.0003	0	0.0006	0.0002846	44	154602	rs149456040	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	6.035e-05	0.0004	0	0.0001	1.873e-05	0.0010	0.0002	0.0003	0.0003	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.231e-05	0.0044	0.0009	0	0	0	0	0.0005	0.0009	0.0002	0.034	0.46129	D	0.24	0.24406	T	0.952	0.54136	P	0.411	0.44827	B	0.000935	0.41028	N	0.174753	0.999448	0.47197	D	0.935	0.23595	L	-4.42	0.98748	D	-4.29	0.76414	D	0.229	0.25989	0.820	0.94660	D	0.862	0.95418	D	10	0.044058084	0.03322	T	0.173972	0.85050	D	0.360	0.68052	.	.	0.724417562041	0.72197	0.5955555143036567	0.59485	0.32220201379	0.34410	0.359478056431	0.19309	T	0.511774	0.82754	D	-0.128861	0.31682	T	-0.0928744	0.63945	T	0.0459042418771977	0.04766	T	0.732227	0.34774	T	0.10860035	0.25678	0.17739664	0.40338	0.10860035	0.25677	0.17739664	0.40337	-3.086	0.12677	T	.	.	0.152	0.37951	B	.;.;.	.;.;.	3.210795	0.43707	21.8	0.94930786310479043	0.25814	0.92613	0.56125	D	AEFBI	0.311077	0.41691	N	0.0937743360673715	0.46172	2.861763	0.12521665489317	0.45842	2.840342	0.993389868853262	0.33194	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	5.52	0.82153	2.939000	0.48687	6.673000	0.56285	0.672000	0.70159	0.997000	0.40164	1.000000	0.68203	0.146000	0.20164	0.0:0.0:1.0:0.0	15.347	0.74059	513	0.74941	STAS domain|STAS domain;.;STAS domain|STAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	677.33	34	chr6	35959470	.	G	A	677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.062;SOR=0.784	GT:AD:DP:GQ:PL	0/1:26,23:49:99:691,0,625	18	0	1	0
chr6	36474840	36474840	T	C	exonic	KCTD20	.	nonsynonymous SNV	KCTD20:NM_173562:exon3:c.T212C:p.I71T	.	430	1082	8	2	0	12	0.00551471	.	.	.	2391513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00645101592564	7.7e-05	0.000399361	0.0002	9.639e-05	0.0002	0	0	0.0001	0.0011	0.0005	0.0001358	21	154602	rs200626478	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0040	0.0035	5.974e-05	0.0002	3.827e-05	2.519e-05	3.744e-05	0.0055	0.0001	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.696e-05	0.0002	0.0001	4.811e-05	0	6.539e-05	0	0	0	0	0.0002	0.0009	0.0006	0.007	0.59928	D	0.509	0.51421	T	0.002	0.09854	B	0.007	0.12992	B	0.009258	0.30447	N	0.283820	1	0.08975	N	0.975	0.24501	L	0.82	0.48142	T	0.38	0.79229	N	0.14	0.13911	-1.0129	0.26007	T	0.026	0.11309	T	10	0.042910278	0.03087	T	0.006451	0.16985	T	0.062	0.17934	.	.	0.383089235449	0.37922	0.2963478417883308	0.29547	0.508096724418	0.48977	0.462824910879	0.33698	T	0.010333	0.42474	T	-0.375261	0.03336	T	-0.448853	0.27823	T	0.0256617565011528	0.01361	T	0.655934	0.36507	T	0.06191157	0.12875	0.07188944	0.15446	0.06191157	0.12874	0.07188944	0.15446	-2.711	0.07396	T	.	.	0.089	0.54397	B	.;.;.;.	.;.;.;.	2.043938	0.25985	16.96	0.9870495435920249	0.44967	0.31756	0.24417	N	AEBI	0.095576	0.19308	N	-0.533493645226267	0.21004	1.11151	-0.3866632815838	0.25393	1.396228	0.0082523330473526	0.11641	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	3.15	0.35301	1.987000	0.40309	1.087000	0.23945	0.665000	0.62972	0.441000	0.26495	0.002000	0.18203	0.987000	0.62547	0.0:0.0811:0.1623:0.7566	6.245	0.20020	405	0.82444	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.005102	0.005435	0.014620	0.000000	0.008621	0.003049	0.003788	0.02632	1776.33	46	chr6	36474840	.	T	C	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.366;DP=757;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.146;SOR=0.802	GT:AD:DP:GQ:PL	0/1:46,73:119:99:1790,0,1133	18	0	1	0
chr6	39315303	39315303	A	G	exonic	KCNK16	.	nonsynonymous SNV	KCNK16:NM_001135105:exon5:c.T790C:p.W264R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00736829708484	0.0039	0.000199681	0.0030	0.0007	0	0	0.0011	0.0060	0.0036	0	0.0020504	317	154602	rs202095357	0.0042	0.0042	0.0043	0.0042	0.0051	0.0042	0.0041	0.0050	0.0050	0.0003	0.0005	0.0021	0	0.0023	0	0.0051	0.0041	0	0.0028	0.0028	0.0030	0.0025	0.0055	0.0026	0.0025	0.0050	0.0048	0.0006	0	0.0007	0.0012	0	0.0011	0	0.0055	0.0014	0	0.001	0.78490	D	0.002	0.79402	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	-0.67	0.19297	N	0.21	0.23380	-0.9509	0.40816	T	0.012	0.04653	T	8	0.004871875	0.00104	T	0.007368	0.19550	T	0.006	0.00375	0.425	0.47021	0.274366138417	0.27033	0.8966464170949435	0.89635	0.853889919278	0.68674	.	.	.	.	.	.	-0.722548	0.00027	T	-0.80568	0.01765	T	0.0225582877204872	0.00972	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	-2.455	0.05481	T	.	.	0.310	0.53793	B	.	.	-0.758765	0.01191	0.058	0.71955935277537952	0.09806	0.00585	0.02632	N	AEFDBI	0.042988	0.06739	N	-1.09212580709428	0.06787	0.3134607	-1.21578376207007	0.05655	0.270091	0.934801658612868	0.27187	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.73	-1.25	0.08920	-2.113000	0.01418	-0.470000	0.08985	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.5955:0.0:0.1824:0.2221	2.670	0.04751	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	0.001024	0.005155	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2586.33	38	chr6	39315303	.	A	G	2586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1358;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=1.68;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,69:145:99:0|1:39315303_A_G:2600,0,2922:39315303	18	0	1	0
chr6	41150846	41150846	A	G	exonic	TREML1	.	nonsynonymous SNV	TREML1:NM_001271808:exon3:c.T208C:p.F70L,TREML1:NM_001271807:exon4:c.T541C:p.F181L,TREML1:NM_178174:exon4:c.T541C:p.F181L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00576364806359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.572e-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	0.577	0.24955	T	0.518	0.13441	T	0.004	0.18885	B	0.009	0.18783	B	0.057896	0.22445	N	0.391386	0.819665	0.34757	D	0.855	0.21307	L	1.77	0.48769	T	-0.68	0.53258	N	0.172	0.19728	-1.0682	0.09813	T	0.030	0.12848	T	10	0.08703408	0.14853	T	0.005764	0.14952	T	0.009	0.00846	0.341	0.33302	0.398727352345	0.39489	0.1894484929296617	0.18862	0.0680759038335	0.07622	0.382166862488	0.22563	T	0.072361	0.34435	T	-0.214005	0.18820	T	-0.54518	0.17792	T	0.115793205797672	0.14014	T	0.611339	0.23205	T	0.05493995	0.10612	0.046757307	0.06587	0.05493995	0.10611	0.046757307	0.06587	-0.335	0.01041	T	.	.	0.533	0.72935	A	.;.;.	.;.;.	0.953772	0.13303	9.802	0.88638349486463874	0.18135	0.13617	0.17957	N	AEFDBHCIJ	0.100838	0.20267	N	-0.64920894000678	0.17483	0.9000489	-0.533847356678839	0.21236	1.147861	0.994465769071626	0.33649	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.38	2.93	0.33092	0.052000	0.14046	0.837000	0.22005	0.756000	0.94297	0.033000	0.20612	0.014000	0.20376	0.992000	0.67800	0.7295:0.1784:0.0921:0.0	5.336	0.15263	643	0.63827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1322.33	33	chr6	41150846	.	A	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.989;DP=774;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.522;SOR=0.582	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1336,0,1875	18	0	1	0
chr6	42865012	42865012	G	A	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon12:c.G2806A:p.G936S,BICRAL:NM_001318819:exon14:c.G2806A:p.G936S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00802085053045	7.7e-05	0.000199681	7.432e-05	0	8.652e-05	0	0	4.508e-05	0	0.0003	6.47e-05	10	154602	rs200474023	6.02e-05	6.02e-05	5.446e-05	6.601e-05	0.0004	4.962e-05	4.627e-05	0.0003	0.0002	0	2.236e-05	0	0.0004	0	0	3.417e-05	3.312e-05	0.0004	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0002	2.108e-05	1.526e-05	1.914e-05	1.03e-05	7.219e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.437	0.09346	T	0.986	0.02387	T	0.078	0.24389	B	0.016	0.17743	B	0.000985	0.40743	D	0.184579	0.565824	0.32251	D	.	.	.	1.03	0.40469	T	0.93	0.01551	N	0.076	0.05542	-1.0321	0.19777	T	0.019	0.07846	T	10	0.019230127	0.00427	T	0.008021	0.21265	T	0.028	0.06331	.	.	0.117191471859	0.11215	0.15034218404144772	0.14956	0.208689439951	0.23337	0.379568397999	0.22196	T	0.012423	0.10924	T	-0.452997	0.01084	T	-0.583928	0.14196	T	0.0329123972561666	0.02457	T	0.722228	0.33571	T	0.023946527	0.01180	0.03834247	0.03681	0.023946527	0.01180	0.03834247	0.03681	-2.606	0.06549	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.818918	0.23114	15.89	0.9519032451233822	0.26372	0.74262	0.36326	D	AEFDGBI	0.054619	0.09945	N	-0.528712216303361	0.21156	1.120688	-0.333897705750462	0.27011	1.495934	0.989871415022135	0.31962	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	3.53	0.39533	2.110000	0.41497	2.093000	0.30559	-0.148000	0.12190	0.986000	0.36153	0.988000	0.31051	0.936000	0.47498	0.1684:0.2223:0.6093:0.0	4.418	0.10895	376	0.83959	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2419.33	33	chr6	42865012	.	G	A	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.02;DP=810;ExcessHet=0;FS=3.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.549;SOR=0.537	GT:AD:DP:GQ:PL	0/1:105,83:188:99:2433,0,2601	18	0	1	0
chr6	43025045	43025045	C	T	exonic	RRP36	.	nonsynonymous SNV	RRP36:NM_001329704:exon2:c.C191T:p.T64M,RRP36:NM_033112:exon2:c.C191T:p.T64M	.	.	.	.	.	.	.	.	.	.	.	2218142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00996780394596	0.0014	0.000599042	0.0004	0.0027	0	0	0	0	0	0.0012	0.0003363	52	154602	rs140642066	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0014	0.0019	4.472e-05	0	2.519e-05	0	0.0002	4.047e-05	0.0003	0.0008	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	1.47e-05	0	0.0008	0.327	0.13262	T	0.185	0.28958	T	0.99	0.63424	D	0.374	0.43683	B	0.130994	0.18639	N	0.532223	1	0.08975	N	0.97	0.24054	L	0.95	0.43279	T	-0.5	0.15782	N	0.084	0.06059	-1.0995	0.04152	T	0.027	0.11397	T	10	0.0050758123	0.00110	T	0.009968	0.25946	T	0.054	0.15330	.	.	0.344483371355	0.34058	0.18074178393230403	0.17993	0.157824905585	0.17821	0.297141075134	0.09977	T	0.004733	0.04144	T	-0.537091	0.00349	T	-0.549508	0.17372	T	0.0130452411383394	0.00227	T	0.670133	0.27879	T	0.031309366	0.02947	0.041506242	0.04731	0.031309366	0.02947	0.041506242	0.04731	-5.667	0.43399	T	.	.	0.088	0.11893	B	.	.	2.060947	0.26204	17.04	0.98429452152860342	0.41375	0.16480	0.19408	N	AEFBCI	0.054590	0.09937	N	-0.371812565294605	0.26478	1.445381	-0.447886220181972	0.23609	1.28838	0.999998278388753	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.82	3.0	0.33773	0.588000	0.23626	0.603000	0.19949	0.599000	0.40250	0.029000	0.20367	0.000000	0.08366	0.684000	0.33659	0.1715:0.7379:0.0:0.0906	7.295	0.25561	179	0.93046	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	971.33	33	chr6	43025045	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=740;ExcessHet=0;FS=5.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.005;SOR=1.356	GT:AD:DP:GQ:PL	0/1:65,35:100:99:985,0,1665	18	0	1	0
chr6	43263156	43263156	C	T	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon13:c.C1792T:p.R598C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0830539110835	7.9e-05	.	3.717e-05	0	0	0	0	7.438e-05	0	0	1.29e-05	2	154602	rs374064146	2.398e-05	2.668e-05	2.229e-05	2.57e-05	5.261e-05	1.726e-05	1.523e-05	1.783e-05	1.535e-05	3.063e-05	0	4.01e-05	5.261e-05	0	0	2.572e-05	3.422e-05	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.16	0.44501	T	1.0	0.90584	D	0.993	0.81110	D	0.000116	0.50451	D	0.081027	0.998924	0.81001	D	1.975	0.53506	M	1.72	0.26588	T	-2.34	0.51811	N	0.627	0.64137	-1.0961	0.04597	T	0.086	0.33522	T	10	0.26014584	0.43460	T	0.083054	0.74032	D	0.190	0.46781	.	.	0.158540857583	0.15491	0.385840506688137	0.38499	1.20759006671	0.80741	0.660612106323	0.61498	T	0.142423	0.47800	T	0.0548717	0.58966	T	-0.158957	0.58446	T	0.936379671096802	0.60533	D	0.856214	0.55036	D	0.23040988	0.45795	0.18198717	0.41097	0.23040988	0.45795	0.18198717	0.41096	-5.697	0.43667	T	0.30052518271018785	0.39785	0.150	0.33755	B	.;.	.;.	5.084498	0.84876	28.4	0.99932835770735262	0.99439	0.95035	0.63201	D	AEFDBI	0.338170	0.43573	N	0.547228386387922	0.69914	5.425138	0.525393550945508	0.69703	5.398488	0.999995802193633	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.29	4.36	0.51643	3.514000	0.53179	3.971000	0.40825	-0.176000	0.10722	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.1739:0.8261:0.0:0.0	11.929	0.52121	184	0.92813	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	533.33	34	chr6	43263156	.	C	T	533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.569;SOR=0.741	GT:AD:DP:GQ:PL	0/1:23,19:42:99:547,0,675	18	0	1	0
chr6	43339228	43339245	CTTAGTCTCAGGGGCCCC	-	exonic	ZNF318	.	nonframeshift deletion	ZNF318:NM_014345:exon10:c.4753_4770del:p.G1585_K1590del	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00259585	0.0014	0.0004	0.0010	0.0006	0	0.0007	0.0011	0.0065	0.0003074	8	26028	rs560879967	0.0011	0.0011	0.0010	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0006	0.0010	7.652e-05	0.0002	0.0001	0.0024	0.0008	0.0013	0.0067	0.0007	0.0007	0.0008	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0004	0	0.0006	0.0006	0.0008	0.0002	0	0.0009	0.0014	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3595.29	42	chr6	43339227	.	GCTTAGTCTCAGGGGCCCC	G	3595.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.297;DP=1392;ExcessHet=0;FS=6.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=0.435;SOR=0.659	GT:AD:DP:GQ:PL	0/1:72,91:163:99:3609,0,2745	18	0	1	0
chr6	43671899	43671899	T	C	exonic	MRPS18A	.	stoploss	MRPS18A:NM_001193343:exon5:c.A384G:p.X128W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	.	.	.	0.0003	0	0.0001	0	0	0	0	0.0023	0.0001876	29	154602	rs756058099	9.066e-05	9.235e-05	5.738e-05	0.0001	0.0015	7.788e-05	7.329e-05	0.0013	0.0012	2.995e-05	2.28e-05	0	0	0	0	0	4.987e-05	0.0015	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.051	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	0.995327	0.81001	D	.	.	.	.	.	.	-2.24	0.50175	N	0.719	0.72120	-1.0305	0.20292	T	0.065	0.26772	T	8	0.03924766	0.02400	T	.	.	.	0.238	0.54217	0.257	0.19845	0.424430313326	0.42057	0.5630192695606459	0.56228	0.527751724854	0.50377	0.6171656847	0.55328	T	0.081735	0.37540	T	0.138038	0.68139	D	0.406491	0.92320	D	0.195620187455294	0.20170	T	0.813919	0.46746	T	0.58362305	0.71806	0.28037784	0.54012	0.58362305	0.71807	0.28037784	0.54011	-3.496	0.16375	T	.	.	0.484	0.72980	A	.;.	.;.	4.495793	0.70266	25.5	0.89786118355677413	0.19099	0.94198	0.60411	D	AEFDGBHCI	0.901973	0.84932	D	0.347206814608775	0.58590	4.03238	0.417062689935245	0.62627	4.481374	0.999999999997883	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	5.75	0.90390	7.108000	0.76696	7.924000	0.74674	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:0.0:0.0:1.0	12.444	0.54977	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	35	chr6	43671899	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.577;SOR=0.679	GT:AD:DP:GQ:PL	0/1:57,37:94:99:882,0,1382	18	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,37:211:99:0|1:52403967_A_G:196,0,6305:52403967	5	0	6	8
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1871.38	277	chr6	52403970	.	C	T	1871.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,36:210:99:0|1:52403967_A_G:189,0,6279:52403967	15	0	2	2
chr6	52509560	52509560	G	C	exonic	TRAM2	.	nonsynonymous SNV	TRAM2:NM_012288:exon5:c.C438G:p.S146R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0595897546415	.	0.000199681	0.0001	0	0	0	0	2.998e-05	0	0.0007	9.7e-05	15	154602	rs568794165	4.173e-05	4.241e-05	1.361e-05	7.013e-05	0.0007	3.31e-05	3.001e-05	0.0005	0.0004	0	0	0	0	0	0.0007	2.698e-06	4.968e-05	0.0006	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.596	0.05703	T	0.581	0.08476	T	0.991	0.64070	D	0.906	0.64351	P	0.000000	0.84330	D	0.114120	1	0.81001	D	1.88	0.49984	L	-1.95	0.85003	D	-1.95	0.45222	N	0.462	0.49874	-0.2619	0.76036	T	0.469	0.79551	T	10	0.15779462	0.29687	T	0.05959	0.67717	D	0.444	0.74657	0.299	0.26522	0.31506500091	0.31122	0.7661321678337665	0.76562	1.50458477683	0.87103	0.591076374054	0.51646	T	0.445972	0.78879	T	-0.210195	0.19350	T	-0.163862	0.58002	T	0.282770037651062	0.24287	T	0.913309	0.69109	D	0.26815388	0.49888	0.26628467	0.52472	0.26815388	0.49887	0.26628467	0.52471	-9.844	0.72972	D	.	.	0.333	0.55403	B	.	.	4.633529	0.73696	26.0	0.9940033054567925	0.62794	0.93262	0.57749	D	AEFDBIJ	0.501573	0.53436	D	0.467334404826905	0.65194	4.79187	0.495863708039277	0.67714	5.121326	0.999995900794313	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.84	4.96	0.65153	2.204000	0.42397	5.893000	0.50786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1604:0.0:0.6721:0.1675	5.611	0.16682	900	0.24599	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	.	.	.	.	.	.	.	.	0.02632	954.33	33	chr6	52509560	.	G	C	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=751;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.116;SOR=0.812	GT:AD:DP:GQ:PL	0/1:57,39:96:99:968,0,1417	18	0	1	0
chr6	52896870	52896870	C	G	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon6:c.G455C:p.S152T,GSTA3:NM_000847:exon7:c.G605C:p.S202T	.	421	1087	14	0	0	14	0.00639854	.	.	.	735704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0005	0.00419329	0.0036	0.0002	0.0036	0.0001	0	0.0006	0.0022	0.0208	0.0030271	468	154602	rs149910347	0.0016	0.0016	0.0010	0.0022	0.0192	0.0015	0.0015	0.0184	0.0181	2.988e-05	0.0022	0.0057	2.519e-05	0	0.0052	0.0003	0.0018	0.0192	0.0011	0.0011	0.0007	0.0015	0.0164	0.0009	0.0009	0.0135	0.0124	0.0002	0	0.0023	0.0052	0	0	0	0.0003	0.0009	0.0164	0.026	0.49117	D	0.035	0.53788	D	0.996	0.68779	D	0.821	0.59116	P	0.000000	0.84330	D	0.000000	0.721008	0.33617	D	4.045	0.97016	H	3.8	0.03781	T	-2.83	0.59710	D	0.317	0.36148	-1.0528	0.13628	T	0.035	0.15204	T	10	0.004918754	0.00105	T	.	.	.	0.191	0.46948	.	.	0.319970858106	0.31615	0.2172488376076375	0.21640	0.0374744692565	0.03975	0.483047127724	0.36475	T	0.258356	0.62950	T	-0.473515	0.00808	T	-0.438011	0.29031	T	0.118626559516602	0.14295	T	0.974503	0.90930	D	0.69049233	0.77538	0.39724603	0.64344	0.69049233	0.77540	0.39724603	0.64344	-7.608	0.58367	D	.	.	0.259	0.54198	B	.;.	.;.	3.128571	0.42264	21.5	0.99453496129180641	0.65427	0.97502	0.75165	D	AEFBI	0.632597	0.61315	D	0.645146737021222	0.76056	6.416434	0.503221332057515	0.68208	5.18825	0.0280851422141881	0.13811	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	5.859000	0.69288	6.483000	0.55742	0.599000	0.40250	1.000000	0.71638	0.821000	0.27127	0.746000	0.35646	0.0:1.0:0.0:0.0	12.793	0.56925	499	0.76092	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-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	0.006546	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.022727	0.02632	891.33	33	chr6	52896870	.	C	G	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=728;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.268;SOR=1.022	GT:AD:DP:GQ:PL	0/1:50,40:90:99:905,0,1321	18	0	1	0
chr6	73225327	73225327	T	C	exonic	KHDC1L	.	nonsynonymous SNV	KHDC1L:NM_001126063:exon1:c.A82G:p.M28V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00260888141687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327464276	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.05534	T	0.54	0.09760	T	0.452	0.36118	B	0.455	0.46267	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.82	0.48142	T	-1.18	0.30140	N	0.264	0.29889	-0.9555	0.40006	T	0.052	0.22192	T	9	0.068274975	0.09633	T	0.002609	0.05292	T	0.126	0.34673	0.39	0.41279	0.0138822411134	0.00435	0.035720465957823785	0.03519	0.0437651188102	0.04714	0.298065692186	0.10114	T	0.010756	0.09680	T	-0.246287	0.14557	T	-0.59155	0.13532	T	0.15107609445119	0.17188	T	0.725427	0.33942	T	0.041945316	0.06271	0.066792145	0.13731	0.041945316	0.06271	0.066792145	0.13730	-1.416	0.01601	T	.	.	0.168	0.37005	B	.	.	0.907978	0.12825	9.337	0.63304835862707887	0.07189	0.00803	0.03267	N	AEFBI	0.025365	0.01725	N	-0.891685196356755	0.11039	0.5306298	-1.11713816619095	0.07372	0.3583625	6.5152037838093E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.91	-3.06	0.05053	0.191000	0.16883	-0.190000	0.11047	0.498000	0.22619	0.009000	0.18154	0.000000	0.08366	0.296000	0.24405	0.24:0.1754:0.2433:0.3414	0.121	0.00060	854	0.34840	KH-like RNA-binding domain|KH-like RNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2212.33	33	chr6	73225327	.	T	C	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=827;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.583;SOR=0.823	GT:AD:DP:GQ:PL	0/1:90,89:179:99:2226,0,2276	18	0	1	0
chr6	81751748	81751748	C	G	exonic	TENT5A	.	nonsynonymous SNV	TENT5A:NM_017633:exon2:c.G394C:p.D132H	.	434	1085	2	1	0	4	0.00183993	.	.	.	2098538	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.224	.	0.0038	0.00159744	0.0060	0.0010	0.0016	0	0.0236	0.0077	0.0056	0.0018	0.0052263	808	154602	rs138694074	0.0057	0.0057	0.0058	0.0056	0.0060	0.0056	0.0056	0.0059	0.0058	0.0007	0.0014	0.0003	7.557e-05	0.0226	0.0007	0.0060	0.0042	0.0015	0.0052	0.0052	0.0040	0.0064	0.0063	0.0049	0.0047	0.0058	0.0056	0.0007	0.0044	0.0018	0.0006	0.0002	0.0262	0.0034	0.0063	0.0019	0.0021	0.235	0.21385	T	0.112	0.38016	T	0.997	0.73220	D	0.774	0.60933	P	0.000000	0.84330	D	0.087063	1	0.81001	D	.	.	.	1.64	0.27822	T	-3.63	0.69714	D	0.886	0.89577	-0.7008	0.60400	T	0.225	0.58995	T	10	0.009378076	0.00212	T	.	.	.	0.274	0.59007	.	.	0.659443253582	0.65659	0.9064361077845647	0.90616	2.2392942424	0.96003	0.847156047821	0.89184	D	0.069428	0.33706	T	-0.249771	0.14126	T	-0.125016	0.61389	T	0.0367216983412185	0.03107	T	0.767723	0.39623	T	0.6376217	0.74704	0.58082634	0.75703	0.6352117	0.74577	0.58082634	0.75704	-8.824	0.66557	D	0.15306865354124216	0.18178	0.679	0.77593	P	.;.;.	.;.;.	5.055412	0.84232	28.3	0.99252292001913467	0.56924	0.94515	0.61415	D	ALL	0.838573	0.75608	D	0.275208238966209	0.54895	3.654163	0.311069877004327	0.56190	3.781952	1.0	0.98316	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.375	0.06713	1	.	.	5.38	4.51	0.54589	6.060000	0.70773	5.832000	0.50172	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9266:0.0:0.0734	13.970	0.63750	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1718.33	33	chr6	81751748	.	C	G	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=770;ExcessHet=0;FS=2.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-2.787;SOR=0.701	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1732,0,2054	18	0	1	0
chr6	83859844	83859844	G	C	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon1:c.G62C:p.G21A	.	424	1094	4	0	0	4	0.00182482	.	.	.	2242372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0088451096139	0.0005	0.000399361	0.0006	0	0.0012	0	0.0002	0.0006	0	0.0011	0.0004786	74	154602	rs150617374	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0.0004	0	0	0.0004	0.0003	0.0006	0.0005	0.0011	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0005	7.216e-05	0	6.535e-05	0	0	9.411e-05	0	0.0007	0.0009	0.0012	0.872	0.02594	T	0.48	0.11899	T	0.005	0.12996	B	0.004	0.10090	B	0.045498	0.23532	N	0.473835	1	0.81001	D	-0.64	0.02118	N	1.05	0.39990	T	-1.54	0.37375	N	0.185	0.20129	-1.0351	0.18825	T	0.021	0.08963	T	10	0.017024666	0.00361	T	0.008845	0.23318	T	0.038	0.09825	.	.	0.503806528429	0.50018	0.2492801673720512	0.24842	0.153485859009	0.17316	0.431669950485	0.29437	T	0.101379	0.40809	T	-0.49261	0.00629	T	-0.530818	0.19206	T	0.0287526775046952	0.01800	T	0.765923	0.39354	T	0.054786	0.10559	0.069707625	0.14721	0.054786	0.10559	0.069707625	0.14720	-2.976	0.09925	T	.	.	0.083	0.09143	B	.	.	2.909796	0.38592	20.8	0.94334336941983299	0.24670	0.55696	0.29929	D	ALL	0.183795	0.31112	N	-0.56266951899855	0.20088	1.056403	-0.412339070845436	0.24634	1.350113	0.999999999999872	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.55	3.7	0.41607	3.406000	0.52386	6.258000	0.55339	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0774:0.274:0.5078:0.1409	4.926	0.13244	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	853.33	40	chr6	83859844	.	G	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.292;SOR=0.688	GT:AD:DP:GQ:PL	0/1:36,38:74:99:867,0,916	18	0	1	0
chr6	89781454	89781454	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon10:c.G1588A:p.E530K	.	426	1081	15	0	0	15	0.00689022	.	.	.	3211660	MDN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.158	.	.	0.00738818	0.0041	0.0002	0.0002	0	0	0.0002	0.0044	0.0288	0.0036028	557	154602	rs541485676	0.0017	0.0017	0.0009	0.0025	0.0259	0.0017	0.0016	0.0250	0.0246	0	0.0003	3.826e-05	2.519e-05	0	0.0035	0.0001	0.0015	0.0259	0.0009	0.0009	0.0004	0.0015	0.0277	0.0008	0.0008	0.0239	0.0225	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0277	0.583	0.05936	T	0.845	0.03558	T	0.294	0.32391	B	0.191	0.36391	B	0.000052	0.53742	D	0.165787	0.993363	0.41917	D	2.885	0.83555	M	4.05	0.16794	T	-0.92	0.39119	N	0.591	0.61087	-1.0477	0.15045	T	0.009	0.03011	T	10	0.004194349	0.00083	T	.	.	.	0.158	0.41098	.	.	0.401208672323	0.39738	0.36181159390552403	0.36095	0.195003835191	0.21838	0.420248866081	0.27869	T	0.006624	0.06047	T	-0.428569	0.01512	T	-0.367436	0.37190	T	0.070458642551729	0.08715	T	0.856014	0.54441	D	0.08783694	0.20468	0.102219954	0.24493	0.08783694	0.20468	0.102219954	0.24493	-4.158	0.26141	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	2.891625	0.38301	20.7	0.98014480548616889	0.37582	0.84961	0.44058	D	AEFBCI	0.135125	0.25537	N	-0.262637099284151	0.30601	1.707877	-0.160471697672017	0.33007	1.883656	0.829261178074684	0.24663	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	4.71	0.59010	2.554000	0.45507	3.717000	0.39574	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.779:0.1458:0.0752	9.367	0.37390	632	0.64850	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.026515	0.02632	2441.33	34	chr6	89781454	.	C	T	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.738;SOR=0.67	GT:AD:DP:GQ:PL	0/1:110,98:208:99:2455,0,2870	18	0	1	0
chr6	109453952	109453952	C	T	exonic	MICAL1	.	nonsynonymous SNV	MICAL1:NM_001159291:exon2:c.G245A:p.C82Y,MICAL1:NM_001286613:exon2:c.G302A:p.C101Y,MICAL1:NM_022765:exon2:c.G245A:p.C82Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	1542243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.605	0.0395101684886	.	.	0.0003	0	0	0	0	3.01e-05	0	0.0024	0.0002717	42	154602	rs767733510	0.0002	0.0002	9.532e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0002	1.529e-05	0.0003	0.0030	0.0001	0.0001	7.706e-05	0.0001	0.0029	6.504e-05	5.317e-05	0.0018	0.0014	0	0	0	0	0	0	0	2.94e-05	0	0.0029	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	3.04	0.86592	M	3.15	0.07820	T	-9.22	0.99097	D	0.921	0.92433	-1.1634	0.00677	T	0.058	0.24167	T	10	0.33727923	0.50853	T	0.03951	0.58848	D	0.605	0.84452	0.75	0.88071	0.622669435781	0.61960	0.7981640622105931	0.79769	0.590832157368	0.54534	0.744088053703	0.73573	T	0.349552	0.71738	T	-0.0758143	0.40392	T	0.113084	0.77778	D	0.479859954088376	0.31892	T	0.925307	0.72522	D	0.95704246	0.96981	0.8699376	0.92861	0.96461296	0.97740	0.88328964	0.93793	-8.471	0.70560	D	.	.	0.837	0.84929	P	.;.;.;.	.;.;.;.	4.259803	0.64723	24.7	0.99723028488642163	0.82195	0.98379	0.82178	D	AEFDGBCI	0.968973	0.99141	D	0.845920323081682	0.88873	9.745703	0.796355658874609	0.89539	10.01659	0.999999999999979	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.21	5.21	0.72005	7.661000	0.82776	5.914000	0.51064	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1322.33	35	chr6	109453952	.	C	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.132;SOR=0.753	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1336,0,1641	18	0	1	0
chr6	111266001	111266001	A	G	exonic	MFSD4B	.	nonsynonymous SNV	MFSD4B:NM_153369:exon4:c.A439G:p.T147A	.	434	1080	7	1	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0052	0.00239617	0.0056	0.0011	0.0017	0	0.0103	0.0079	0.0055	0.0032	0.0057567	890	154602	rs72939596	0.0080	0.0080	0.0084	0.0076	0.0092	0.0079	0.0078	0.0091	0.0090	0.0012	0.0016	0.0011	0	0.0111	0.0071	0.0092	0.0053	0.0037	0.0049	0.0049	0.0050	0.0048	0.0080	0.0046	0.0045	0.0075	0.0073	0.0013	0	0.0021	0.0009	0.0002	0.0089	0	0.0080	0.0033	0.0023	0.156	0.24090	T	0.289	0.21078	T	0.623	0.39993	P	0.372	0.43610	B	0.323353	0.14233	N	0.736785	1	0.08975	N	.	.	.	0.5	0.55608	T	-1.63	0.39119	N	0.04	0.01347	-0.9702	0.37157	T	0.050	0.21300	T	10	0.003963828	0.00076	T	.	.	.	0.071	0.20720	.	.	0.126345400529	0.12197	0.17345402855501113	0.17265	0.0758321962947	0.08508	0.298696726561	0.10207	T	0.072638	0.34504	T	-0.572902	0.00213	T	-0.587749	0.13862	T	0.0188590476834132	0.00597	T	0.463654	0.13513	T	0.04186175	0.06245	0.048357382	0.07165	0.04186175	0.06244	0.048357382	0.07165	-3.567	0.17381	T	.	.	.	.	.	.	.	-0.379771	0.02290	0.240	0.78484663461483573	0.12321	0.28096	0.23460	N	ALL	0.067918	0.13374	N	-0.963787507365658	0.09385	0.4439758	-1.10851578640764	0.07537	0.3669792	0.999999999988818	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.85	-3.51	0.04397	0.427000	0.21098	-1.804000	0.04695	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.329:0.0:0.3459:0.325	5.336	0.15265	632	0.64850	Major facilitator superfamily domain	.	.	.	.	rs72939596	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.002924	0.100000	0.008621	0.003049	0.007576	0.02632	1876.33	67	chr6	111266001	.	A	G	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1065;ExcessHet=0;FS=5.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=2.71;SOR=1.031	GT:AD:DP:GQ:PL	0/1:129,75:204:99:1890,0,3605	18	0	1	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M,MCM9:NM_001378360:exon12:c.C1850T:p.T617M,MCM9:NM_001378364:exon12:c.C1792T:p.R598W,MCM9:NM_001378356:exon13:c.C1996T:p.R666W,MCM9:NM_001378359:exon13:c.C1850T:p.T617M,MCM9:NM_001378357:exon14:c.C1996T:p.R666W,MCM9:NM_001378367:exon14:c.C1652T:p.T551M,MCM9:NM_017696:exon14:c.C1996T:p.R666W	Ovarian dysgenesis 4, Autosomal recessive	430	1082	10	0	0	10	0.00459982	.	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	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	0.001340	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.000000	0.02632	1062.33	40	chr6	118816260	.	G	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.76;DP=755;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.596;SOR=0.368	GT:AD:DP:GQ:PL	0/1:32,37:69:99:1076,0,852	18	0	1	0
chr6	122804961	122804961	T	G	exonic	SMPDL3A	.	nonsynonymous SNV	SMPDL3A:NM_001286138:exon5:c.T398G:p.I133S,SMPDL3A:NM_006714:exon6:c.T791G:p.I264S	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.11371391789	0.0034	0.000599042	0.0022	0.0006	0.0020	0	0.0008	0.0035	0.0011	0.0003	0.0023803	368	154602	rs111976561	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0037	0.0046	0.0045	0.0008	0.0017	0.0007	0	0.0013	0.0019	0.0047	0.0034	0.0003	0.0022	0.0022	0.0025	0.0019	0.0039	0.0020	0.0020	0.0035	0.0033	0.0010	0	0.0018	0	0	0.0007	0	0.0039	0.0014	0.0002	0.603	0.05584	T	0.07	0.43721	T	0.101	0.25775	B	0.089	0.29769	B	0.005503	0.32736	N	0.387835	1	0.08975	N	0.83	0.20963	L	-2.23	0.87116	D	1.29	0.00961	N	0.419	0.46368	-0.7929	0.55561	T	0.116	0.40919	T	10	0.011620134	0.00253	T	0.113714	0.79231	D	0.211	0.50185	.	.	0.367612772649	0.36367	0.6626672323440397	0.66203	0.198794521123	0.22261	0.278028577566	0.07220	T	0.095391	0.39612	T	-0.41803	0.01761	T	-0.371329	0.36733	T	0.00364589370444655	0.00039	T	0.872813	0.58002	D	0.09192448	0.21553	0.05954956	0.11196	0.09192448	0.21553	0.05954956	0.11195	-2.915	0.09294	T	.	.	0.124	0.28435	B	.;.	.;.	-0.044095	0.03989	0.903	0.78124922593559021	0.12165	0.16593	0.19460	N	AEFI	0.657879	0.62935	D	-1.4816592829235	0.01979	0.08692934	-1.48206979491289	0.02491	0.1146656	0.0145208710728464	0.12605	0.638212	0.43195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.7	-3.3	0.04692	-0.228000	0.09119	-0.267000	0.10379	-0.201000	0.08892	0.124000	0.23245	0.000000	0.08366	0.022000	0.11911	0.1037:0.3906:0.0:0.5057	7.623	0.27365	625	0.65529	.;Calcineurin-like phosphoesterase domain, ApaH 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	0.002518	0.015152	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1183.33	33	chr6	122804961	.	T	G	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=736;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.916;SOR=0.869	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1197,0,1469	18	0	1	0
chr6	123366143	123366143	A	T	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon20:c.T1316A:p.I439N,TRDN:NM_006073:exon20:c.T1313A:p.I438N	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	46	30	160	1284	2	2730	0.978479	.	.	.	229400	Catecholaminergic_polymorphic_ventricular_tachycardia_1|TRDN-related_disorder|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_5|not_specified	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|.|MedGen:CN230736|MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	.	.	0.0159744	0.0069	0.0001	0.0004	0.0807	0	6.017e-05	0.0045	0.0076	0.0063777	986	154602	rs2873479	0.0027	0.0027	0.0026	0.0028	0.0722	0.0026	0.0026	0.0700	0.0691	2.989e-05	0.0002	3.831e-05	0.0722	1.876e-05	0.0005	4.501e-05	0.0052	0.0078	0.0030	0.0031	0.0026	0.0036	0.0740	0.0028	0.0027	0.0679	0.0655	0.0002	0	0.0009	0	0.0740	0	0	0.0001	0.0043	0.0087	0.008	0.58626	D	0.487	0.11656	T	0.0	0.02946	B	0.0	0.01387	B	0.044041	0.23680	N	0.365607	0.999962	0.18878	P	0	0.06538	N	2.23	0.18083	T	0.45	0.03191	N	0.088	0.06587	-0.9344	0.43485	T	0.007	0.02558	T	9	0.002306044	0.00034	T	.	.	.	0.072	0.21020	.	.	0.0551355673512	0.04727	0.0032556515705740867	0.00303	.	.	0.355668485165	0.18753	T	0.063032	0.32070	T	-0.715297	0.00030	T	-0.739403	0.03916	T	0.0266684692791771	0.01498	T	0.351165	0.07832	T	0.08730619	0.20326	0.09042251	0.21204	0.08730619	0.20325	0.09042251	0.21203	-4.269	0.27740	T	0.08204467012720906	0.04297	0.069	0.03093	B	.	.	2.569408	0.33295	19.30	0.78268879735457986	0.12228	0.56028	0.30013	D	AEI	0.142441	0.26488	N	-0.819243745677606	0.12818	0.6273399	-0.634635162015718	0.18605	0.9946618	3.10352811181279E-4	0.06454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	4.68	0.58319	2.383000	0.44008	4.765000	0.44738	-0.890000	0.02392	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0866:0.1712:0.7422:0.0	7.740	0.28004	866	0.32446	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	77839.6	147	chr6	123366143	.	A	T	77839.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=2962;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.71;ReadPosRankSum=0.354;SOR=0.737	GT:AD:DP:GQ:PL	0/1:0,70:166:99:4685,2668,2457	18	0	1	0
chr6	131650104	131650104	C	T	exonic	ENPP3	.	stopgain	ENPP3:NM_005021:exon3:c.C232T:p.R78X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000599042	0.0011	0.0007	8.654e-05	0.0003	0.0021	0.0015	0.0011	0.0002	0.0011578	179	154602	rs144467409	0.0013	0.0013	0.0014	0.0012	0.0015	0.0013	0.0012	0.0015	0.0014	0.0002	0.0002	3.827e-05	7.557e-05	0.0020	0.0002	0.0015	0.0010	0.0002	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	0.0004	0	0.0003	0	0	0.0013	0	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.001329	0.39379	N	0.114128	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.81	0.82862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152235	0.69478	D	0.442221	0.93382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.317135	0.99692	46	0.9984396131537302	0.92403	0.64848	0.32541	D	AEFBI	0.142210	0.26459	N	0.449966333153296	0.64202	4.669415	0.245677272724609	0.52405	3.415426	0.623616473956246	0.21906	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.7	4.83	0.61880	2.268000	0.42996	4.049000	0.41491	0.599000	0.40250	0.920000	0.31959	0.999000	0.35428	0.303000	0.24570	0.1578:0.8422:0.0:0.0	13.384	0.60233	847	0.35998	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B 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	.	.	.	.	.	.	.	.	0.02632	1487.33	34	chr6	131650104	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=729;ExcessHet=0;FS=9.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.928;SOR=0.854	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1501,0,998	18	0	1	0
chr6	132570483	132570483	G	A	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.G162A:p.M54I	.	415	1106	1	0	0	1	0.000451875	.	.	.	699315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.122	.	0.0005	0.0189696	0.0081	9.61e-05	0.0493	0.0424	0.0003	0.0003	0.0066	0.0013	0.0083958	1298	154602	rs117814299	0.0036	0.0036	0.0038	0.0033	0.0534	0.0035	0.0034	0.0516	0.0509	0.0005	0.0534	0.0004	0.0530	0.0004	0.0003	0.0002	0.0053	0.0015	0.0078	0.0078	0.0059	0.0098	0.0551	0.0074	0.0073	0.0520	0.0508	0.0006	0	0.0551	0	0.0508	0.0005	0	0.0004	0.0062	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.003225	0.35241	N	0.174826	0.978664	0.25233	N	-0.8	0.01622	N	-0.18	0.65747	T	0.54	0.02764	N	0.222	0.24883	-1.0093	0.27136	T	0.030	0.12935	T	10	0.0030700862	0.00051	T	.	.	.	0.122	0.33800	0.411	0.44723	.	.	0.05762654623584885	0.05703	0.00935334602833	0.00849	0.312084317207	0.12222	T	0.00733	0.06742	T	-0.507793	0.00517	T	-0.462709	0.26305	T	0.0068072023953674	0.00077	T	0.840116	0.51512	T	0.3281647	0.55320	0.24314171	0.49751	0.3281647	0.55320	0.24314171	0.49750	-2.805	0.08230	T	.	.	0.242	0.47676	B	.	.	0.912878	0.12875	9.385	0.49057936547433328	0.04145	0.34928	0.25183	N	AEFBI	0.140560	0.26250	N	-0.926042867319478	0.10235	0.4881766	-0.771356261045167	0.15198	0.7981296	0.0224501385965229	0.13431	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.99	4.12	0.47504	0.222000	0.17482	-2.092000	0.04225	0.656000	0.54149	0.013000	0.18845	0.000000	0.08366	0.245000	0.23132	0.0:0.2517:0.62:0.1283	10.386	0.43323	829	0.39537	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1659.33	34	chr6	132570483	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=910;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.03;SOR=0.871	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1673,0,1517	18	0	1	0
chr6	138433075	138433075	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1282T:p.V428F,NHSL1:NM_001144060:exon6:c.G1270T:p.V424F	.	431	1088	3	0	0	3	0.00137678	.	.	.	2333944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0224671025251	0.0009	.	0.0009	0	0	0	0	0.0018	0	0.0004	0.0001423	22	154602	rs368681633	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0004	0.0006	0.0005	9.495e-05	5.602e-05	0.0039	0	8.178e-05	0.0004	0.0005	0.0006	0.0007	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0003	2.413e-05	0	0	0.0032	0	0	0	0.0005	0.0010	0.0008	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.816	0.58888	P	0.000722	0.42129	D	0.203392	0.998013	0.44417	D	2.645	0.77386	M	0.51	0.55439	T	-3.21	0.64826	D	0.389	0.43029	-0.9449	0.41830	T	0.119	0.41756	T	10	0.009385288	0.00212	T	0.022467	0.45362	T	0.198	0.48105	.	.	0.137902524267	0.13322	0.6067846774546931	0.60609	.	.	0.318435847759	0.13183	T	0.100423	0.40620	T	-0.198697	0.20993	T	-0.156748	0.58642	T	0.0963143309992381	0.11946	T	0.940606	0.77652	D	0.32580504	0.55125	0.21169882	0.45609	0.32580504	0.55125	0.21169882	0.45608	-7.363	0.56643	T	.	.	0.203	0.42820	B	.;.	.;.	1.103420	0.14878	11.41	0.99530116492459209	0.69839	0.87654	0.47265	D	AEFDBI	0.440250	0.49889	N	-0.0809996902345697	0.38226	2.235628	-0.242533547561968	0.30030	1.687324	0.999265695210011	0.38940	0.706548	0.73137	0	0.446627	0.06534	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.17	0.143	0.14116	0.544000	0.22960	0.018000	0.13546	0.599000	0.40250	0.839000	0.30269	0.064000	0.22093	0.425000	0.27339	0.0:0.6182:0.1151:0.2666	6.890	0.23407	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4825.81	58	chr6	138433075	.	C	A	4825.81	.	AC=2;AF=0.053;AN=38;DP=1427;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.39;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4853,447,0	18	1	0	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	683.79	147	chr6	152331115	.	C	G	683.79	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.897;DP=2493;ExcessHet=1.3;FS=258.908;InbreedingCoeff=-0.2283;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.44;SOR=12.09	GT:AD:DP:GQ:PL	0/1:108,53:175:99:230,0,2415	10	0	5	4
chr6	158665469	158665469	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001242394:exon5:c.G185A:p.C62Y,SYTL3:NM_001242395:exon5:c.G185A:p.C62Y,SYTL3:NM_001009991:exon6:c.G185A:p.C62Y,SYTL3:NM_001242384:exon6:c.G185A:p.C62Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.080275381614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.51853	D	0.017	0.61642	D	0.718	0.42284	P	0.251	0.39041	B	0.033524	0.24886	N	0.499351	1	0.81001	D	1.95	0.52479	M	-1.02	0.76300	T	-1.91	0.50830	N	0.347	0.39861	-0.6429	0.63022	T	0.231	0.59632	T	10	0.2654535	0.44042	T	0.080275	0.73423	D	0.208	0.49714	0.231	0.15855	0.541149246611	0.53767	0.4335312791007779	0.43270	0.0213755055872	0.02119	0.315659284592	0.12763	T	0.260781	0.63219	T	-0.0997991	0.36457	T	-0.381131	0.35588	T	0.204832687973976	0.20679	T	0.836716	0.50835	T	0.17367785	0.38129	0.22679263	0.47668	0.17367785	0.38128	0.22679263	0.47667	-9.899	0.73389	D	.	.	0.088	0.11749	B	.;.;.;.	.;.;.;.	1.483531	0.19096	14.09	0.61535878534022548	0.06733	0.22921	0.21907	N	AEFDBI	0.232906	0.35591	N	-0.743266320162993	0.14818	0.7413381	-0.836344217620755	0.13616	0.7073187	0.999979533417288	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	5.8	0.725	0.17395	0.754000	0.26056	0.427000	0.18283	-0.179000	0.10443	0.118000	0.23139	0.000000	0.08366	0.022000	0.11911	0.0:0.5043:0.4284:0.0674	13.277	0.59627	778	0.48011	.;Rab-binding domain;Rab-binding domain;Rab-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1100.33	34	chr6	158665469	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=712;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.1;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1114,0,1236	18	0	1	0
chr6	158767418	158767418	G	A	exonic	EZR	.	nonsynonymous SNV	EZR:NM_003379:exon12:c.C1439T:p.P480L,EZR:NM_001111077:exon13:c.C1439T:p.P480L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0602834727591	0.0003	.	9.953e-05	0	0	0.0002	0	0.0002	0	0	8.41e-05	13	154602	rs147792801	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0	2.238e-05	0	2.519e-05	0	0	0.0003	0.0004	5.797e-05	0.0001	0.0001	0.0002	6.733e-05	0.0004	8.176e-05	6.731e-05	0.0001	9.903e-05	4.831e-05	0	6.551e-05	0	0.0004	0	0	0.0002	0	0	0.422	0.09776	T	0.285	0.21343	T	0.012	0.16265	B	0.004	0.10090	B	0.721109	0.06314	N	1.126670	1	0.81001	D	0.895	0.22405	L	-2.0	0.85393	D	-1.29	0.32387	N	0.512	0.54757	-0.7636	0.57209	T	0.442	0.77965	T	10	0.31787527	0.49192	T	0.060283	0.67949	D	0.395	0.71004	.	.	0.641892020948	0.63894	0.31948845399288806	0.31861	0.416049261514	0.42251	0.630721926689	0.57247	T	0.624858	0.88295	D	-0.186143	0.22825	T	-0.220445	0.52696	T	0.0755585968910542	0.09410	T	0.914509	0.69499	D	0.040407322	0.05761	0.06388571	0.12723	0.040407322	0.05761	0.06388571	0.12722	-5.684	0.43551	T	.	.	0.154	0.34116	B	.;.;.	.;.;.	3.184419	0.43240	21.7	0.9481250411526887	0.25574	0.93280	0.57796	D	AEFDGBHCI	0.733408	0.67986	D	-0.00360695895347605	0.41692	2.498359	0.137124453191533	0.46463	2.891925	0.999999960138585	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	5.777000	0.68584	8.656000	0.77953	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	20.177	0.98187	752	0.51611	Ezrin/radixin/moesin, C-terminal;Ezrin/radixin/moesin, C-terminal;Ezrin/radixin/moesin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1614.33	35	chr6	158767418	.	G	A	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.876;SOR=0.697	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1628,0,1594	18	0	1	0
chr6	167340187	167340187	C	T	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.C287T:p.P96L	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00284141436187	0.0005	0.000599042	0.0007	0.0003	0.0003	0	0.0002	0.0007	0.0011	0.0016	0.000608	94	154602	rs145779681	0.0005	0.0005	0.0004	0.0006	0.0109	0.0004	0.0004	0.0088	0.0080	0.0013	0.0008	0.0003	7.557e-05	5.617e-05	0.0109	0.0003	0.0009	0.0015	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0003	0.0006	0.0004	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0004	0.0005	0.0010	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000181	0.48594	D	0.082018	0.688744	0.33305	D	2.44	0.70756	M	4.19	0.02716	T	-7.92	0.96243	D	0.232	0.26111	-1.0631	0.10997	T	0.019	0.07846	T	10	0.039141268	0.02382	T	0.002841	0.05956	T	0.114	0.32008	.	.	0.0666544352282	0.05500	0.6280410403267392	0.62737	0.547044844208	0.51677	0.410562962294	0.26535	T	0.035994	0.23935	T	-0.463602	0.00933	T	-0.468788	0.25646	T	0.267926007509232	0.23658	T	0.648535	0.25952	T	0.54346937	0.69591	0.47267935	0.69431	0.54346937	0.69592	0.47267935	0.69432	-9.877	0.73172	D	.	.	0.272	0.67047	B	.;.	.;.	2.882435	0.38144	20.7	0.99714692542139782	0.81563	0.38445	0.25990	N	AEFBI	0.226805	0.35069	N	0.102136914200955	0.46563	2.894703	-0.122173929305691	0.34497	1.985029	0.999831045253335	0.43792	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.37	3.37	0.37692	3.823000	0.55415	0.381000	0.17781	0.469000	0.21855	0.594000	0.27698	0.000000	0.08366	0.031000	0.13245	0.0:1.0:0.0:0.0	13.819	0.62800	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.016304	0.017544	0.000000	0.000000	0.003049	0.000000	0.02632	2114.33	33	chr6	167340187	.	C	T	2114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=770;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.536;SOR=0.503	GT:AD:DP:GQ:PL	0/1:54,79:133:99:2128,0,1311	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,141:142:99:1|1:170561949_GCAA_G:5960,379,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,194:194:99:1|1:170561949_GCAA_G:8620,583,0:170561949	5	6	7	1
chr6	170561967	170561988	GCAGCAGCAGCAGCAGCAGCAG	-	exonic	TBP	.	frameshift deletion	TBP:NM_001172085:exon2:c.171_192del:p.Q57Hfs*60,TBP:NM_003194:exon3:c.231_252del:p.Q77Hfs*60	Spinocerebellar ataxia 17, Autosomal dominant	45	944	77	8	448	541	0.046946	.	.	.	3550024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0014	0.0015	0	0.0013	0.0019	0.0009	3.84e-05	1	26028	rs760551718	0.0015	0.0013	0.0013	0.0016	0.0222	0.0014	0.0014	0.0188	0.0175	0.0017	0.0035	0.0117	0.0021	0.0002	0.0222	0.0010	0.0033	0.0010	0.0025	0.0024	0.0024	0.0027	0.0067	0.0023	0.0022	0.0056	0.0052	0.0021	0	0.0067	0.0143	0.0022	0	0.0248	0.0016	0.0046	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	27708.9	128	chr6	170561966	.	AGCAGCAGCAGCAGCAGCAGCAG	A	27708.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.123;DP=2797;ExcessHet=0.463;FS=1.115;InbreedingCoeff=0.1556;MLEAC=2;MLEAF=0.053;MQ=59.93;MQRankSum=0;QD=24.59;ReadPosRankSum=3.29;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,135:136:99:1|1:170561949_GCAA_G:8492,574,0:170561949	18	1	0	0
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,135:136:99:1|1:170561949_GCAA_G:8492,574,0:170561949	6	5	8	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,9:28:28:.:.:28,0,248:.	2	0	16	1
chr7	5428248	5428248	T	C	exonic	LOC100129484	.	startloss	LOC100129484:NM_001354886:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	30.4	.	chr7	5428248	.	T	C	30.4	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=-0.1751;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	10	0	1	8
chr7	5905217	5905217	A	G	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon7:c.A646G:p.S216G	.	461	1059	2	0	0	2	0.000943396	.	.	.	4116374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.00368820174804	.	.	3.121e-05	0.0001	0	0	0	3.7e-05	0	0	3.84e-05	1	26028	rs773853275	4.507e-05	4.592e-05	3.929e-05	5.089e-05	0.0009	3.612e-05	3.287e-05	0.0003	0.0002	3.259e-05	0	0	0	0	0.0009	4.235e-05	0.0001	7.328e-05	3.496e-05	3.333e-05	2.711e-05	4.333e-05	6.893e-05	1.322e-05	8.43e-06	1.992e-05	1.138e-05	0	0	6.893e-05	0	0	0	0	5.966e-05	0	0	0.086	0.32610	T	0.012	0.63918	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	-2.62	0.56301	D	0.744	0.74371	-0.8428	0.52460	T	0.203	0.56017	T	9	0.66565156	0.70411	D	0.003688	0.08527	T	0.193	0.47281	0.627	0.76254	0.389366070519	0.38549	0.42924326816062747	0.42841	.	.	0.585609912872	0.50877	T	0.185633	0.53866	T	-0.0110641	0.50118	T	-0.0683968	0.65740	T	0.18258115513735	0.19397	T	.	.	.	0.32834798	0.55335	0.2659503	0.52435	0.32834798	0.55335	0.2659503	0.52434	-8.555	0.64792	D	.	.	0.089	0.12132	B	.	.	4.191210	0.63170	24.5	0.99765915246198988	0.85500	0.95938	0.66805	D	AEFI	0.803358	0.72853	D	0.507170312298747	0.67512	5.091645	0.58245791450154	0.73683	6.010739	0.624441688407026	0.21913	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	7.465000	0.79922	9.279000	0.79698	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.413	0.74664	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002041	0.000000	0.002740	0.000000	0.000000	0.000000	0.003049	0.003846	0.02632	1241.33	33	chr7	5905217	.	A	G	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.413;DP=792;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.67;MQRankSum=0.941;QD=13.64;ReadPosRankSum=-1.589;SOR=1.019	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1255,0,1449	18	0	1	0
chr7	17339293	17339293	A	G	exonic	AHR	.	nonsynonymous SNV	AHR:NM_001621:exon10:c.A1468G:p.M490V	.	417	1061	44	0	0	44	0.0203139	.	.	.	1155650	AHR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	0.00592794406859	0.0010	0.00139776	0.0019	0.0005	0.0038	0.0002	0	0.0023	0.0044	0.0010	0.0017852	276	154602	rs61755968	0.0015	0.0015	0.0015	0.0016	0.0333	0.0015	0.0014	0.0294	0.0280	0.0014	0.0044	0.0103	2.519e-05	1.872e-05	0.0333	0.0011	0.0035	0.0013	0.0018	0.0018	0.0020	0.0015	0.0043	0.0016	0.0015	0.0034	0.0031	0.0004	0	0.0043	0.0089	0	0	0.0680	0.0017	0.0061	0.0010	0.686	0.04353	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.386539	0.04452	N	1.295330	1	0.08975	N	-0.805	0.01590	N	3.6	0.04494	T	-0.26	0.11185	N	0.022	0.00372	-0.9222	0.45252	T	0.004	0.01470	T	10	0.003658086	0.00067	T	0.005928	0.15460	T	0.009	0.00846	.	.	0.204265027416	0.20035	0.17086664397383802	0.17006	0.114153396927	0.12873	0.218387007713	0.01219	T	0.085885	0.37601	T	-0.77272	0.00012	T	-0.877045	0.00679	T	0.00502727211406991	0.00054	T	0.260774	0.04184	T	0.0338362	0.03680	0.029485425	0.01292	0.0338362	0.03680	0.029485425	0.01292	-2.536	0.06032	T	.	.	0.052	0.00361	B	.;.;.	.;.;.	-1.957283	0.00111	0.002	0.38163772742654201	0.02558	0.05044	0.10831	N	AEFDGBHCI	0.047190	0.07918	N	-1.65382777947741	0.01019	0.04417788	-1.71530635961718	0.01071	0.04809935	0.99999999992978	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.658983	0.55881	0	0.725737	0.93299	0	.	.	5.8	-9.3	0.00551	-0.989000	0.03846	-6.376000	0.01416	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3884:0.2679:0.3437:0.0	9.114	0.35907	812	0.42537	.;.;.	.	.	.	.	.	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	0.030715	0.020202	0.020380	0.093567	0.000000	0.025862	0.012195	0.015152	0.05263	4035.83	33	chr7	17339293	.	A	G	4035.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.87;DP=884;ExcessHet=0.119;FS=10.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.34;SOR=1.052	GT:AD:DP:GQ:PL	0/1:88,78:166:99:2184,0,2439	17	0	2	0
chr7	21511066	21511066	C	T	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon6:c.C2101T:p.R701W,SP4:NM_001326543:exon6:c.C1213T:p.R405W,SP4:NM_003112:exon6:c.C2152T:p.R718W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.031672616758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.001577	0.38612	N	0.248046	0.999998	0.58761	D	1.64	0.41913	L	1.25	0.36512	T	-7.42	0.94814	D	0.802	0.79792	-0.9120	0.46607	T	0.142	0.46312	T	10	0.7571423	0.76068	D	0.031673	0.53701	D	0.445	0.74727	0.666	0.80401	0.673681415582	0.67091	0.8579082905841405	0.85753	1.17310091771	0.79820	0.945979356766	0.99651	D	0.455742	0.79477	T	0.216361	0.75430	D	0.0730106	0.75110	D	0.998314738273621	0.93807	D	0.789121	0.42899	T	0.62995964	0.74296	0.6306471	0.78454	0.62995964	0.74297	0.6306471	0.78455	-13.716	0.92097	D	.	.	0.999	0.98051	P	.;.	.;.	5.614001	0.92552	32	0.9990979784252213	0.97949	0.93416	0.58159	D	AEFBI	0.675378	0.64078	D	0.294174035096789	0.55852	3.749411	0.257726746717403	0.53090	3.479783	5.3727885084421E-4	0.07248	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	2.12	0.26372	1.363000	0.33763	2.160000	0.30975	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5471:0.4529:0.0:0.0	13.296	0.59734	686	0.59327	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	.	.	.	.	.	.	.	.	0.02632	1268.33	34	chr7	21511066	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=710;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.967;SOR=0.474	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1282,0,1177	18	0	1	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2201.29	46	chr7	27095697	.	ATGGTGGTGG	A	2201.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1030;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=1.37;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,59:128:99:1|0:27095695_C_T:2215,0,2559:27095695	18	0	1	0
chr7	31643818	31643818	C	A	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon10:c.C2448A:p.H816Q,ITPRID1:NM_001257968:exon11:c.C2448A:p.H816Q,ITPRID1:NM_001257967:exon12:c.C2448A:p.H816Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00565192064086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.494	0.12386	T	0.146	0.32258	B	0.041	0.26820	B	0.141758	0.02892	N	1.669150	1	0.08975	N	.	.	.	1.6	0.28604	T	-1.28	0.34397	N	0.089	0.06720	-1.0858	0.06263	T	0.052	0.21960	T	10	0.053285778	0.05495	T	0.005652	0.14621	T	0.045	0.12272	0.119	0.02647	0.159798565429	0.15598	0.06324124486515995	0.06263	0.0345443991487	0.03633	0.24051502347	0.02837	T	0.002085	0.01490	T	-0.336547	0.05630	T	-0.721203	0.04738	T	0.0812369006847954	0.10144	T	0.467153	0.13745	T	0.034104895	0.03761	0.03804614	0.03587	0.034104895	0.03761	0.03804614	0.03587	-3.909	0.23248	T	.	.	0.139	0.30920	B	.;.;.;.;.	.;.;.;.;.	-0.900315	0.00925	0.035	0.48226010630103255	0.04007	0.04723	0.10418	N	AEFBI	0.076952	0.15493	N	-1.20169911695418	0.04975	0.2257574	-1.26694844551273	0.04885	0.2315049	0.00291588563588505	0.09795	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.69	-1.24	0.08948	-0.401000	0.07293	-3.091000	0.03069	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2702:0.3367:0.132:0.2611	0.509	0.00553	811	0.42639	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1640.33	77	chr7	31643818	.	C	A	1640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.32;DP=1209;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.352;SOR=0.748	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1654,0,2175	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:87,34:127:14:14,0,1662	10	0	9	0
chr7	45574854	45574854	C	T	exonic	ADCY1	.	nonsynonymous SNV	ADCY1:NM_021116:exon1:c.C311T:p.A104V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.635189749398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173497805	2.741e-06	2.736e-06	0	5.51e-06	1.16e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	0	4.973e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	0.04848	T	1.0	0.01155	T	0.716	0.42206	P	0.039	0.23607	B	0.002202	0.37012	N	0.233888	0.737514	0.81001	D	1.1	0.28011	L	-1.35	0.80035	T	-0.48	0.15379	N	0.28	0.31702	-0.7448	0.58206	T	0.177	0.52162	T	10	0.34439474	0.51433	T	0.63519	0.96877	D	0.259	0.57090	0.585	0.71245	0.68486654714	0.68217	0.4780964398212817	0.47729	1.26099718481	0.82023	0.863195598125	0.91581	D	0.233071	0.59979	T	-0.119685	0.33176	T	-0.309065	0.43760	T	0.445221066474915	0.30621	T	0.920408	0.71216	D	0.07406737	0.16596	0.06533969	0.13229	0.07406737	0.16596	0.06533969	0.13229	-4.657	0.32879	T	.	.	0.109	0.20741	B	.	.	3.738726	0.53519	23.4	0.92761079827712212	0.22271	0.81499	0.40890	D	AEFDGBHCI	0.254843	0.37408	N	-0.41129060541089	0.25072	1.358378	-0.347880947018185	0.26574	1.468764	0.999999999894453	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.48	2.59	0.30091	3.534000	0.53324	4.317000	0.42986	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8776:0.0:0.1224	8.220	0.30696	929	0.16858	Adenylate cyclase, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2982.77	33	chr7	45574854	.	C	T	2982.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.35;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=-0.927;SOR=0.637	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2308,225,0	17	1	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,42:105:99:.:.:195,0,873:.	4	0	15	0
chr7	47843041	47843041	T	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon34:c.A5366G:p.E1789G	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	424	1092	5	1	0	7	0.00319489	.	.	.	3216908	PKD1L1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00350799226516	7.7e-05	.	2.475e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs368140318	6.431e-05	6.43e-05	6.126e-05	6.738e-05	0.0045	5.362e-05	4.976e-05	0.0032	0.0027	8.963e-05	0	0	0	9.36e-05	0.0045	4.137e-05	0.0001	6.957e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.136	0.26085	T	0.022	0.57587	D	0.126	0.26920	B	0.023	0.19966	B	0.511845	0.11836	N	0.755716	0.999972	0.18612	N	1.795	0.47270	L	2.18	0.18875	T	-3.74	0.71042	D	0.181	0.19593	-1.0193	0.23943	T	0.026	0.11264	T	10	0.093857825	0.16644	T	0.003508	0.07969	T	0.045	0.12272	.	.	0.679604333237	0.67688	0.54218332259973	0.54143	0.122578150867	0.13811	0.351744562387	0.18179	T	0.283162	0.65592	T	-0.391982	0.02612	T	-0.598177	0.12964	T	0.0442588396963682	0.04468	T	0.409559	0.10569	T	0.12889436	0.30121	0.18497162	0.41582	0.12889436	0.30121	0.18497162	0.41581	-4.278	0.27867	T	0.3037297570323424	0.40126	0.080	0.07745	B	.	.	0.284929	0.06614	3.110	0.99724963026634961	0.82336	0.01907	0.05839	N	AEFDBI	0.049745	0.08626	N	-0.998951837478029	0.08626	0.4051936	-1.04057781757873	0.08904	0.4401638	0.794452689743788	0.24073	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.4	-1.33	0.08693	-0.203000	0.09440	-0.001000	0.13204	0.665000	0.62972	0.008000	0.17931	0.004000	0.18990	0.068000	0.16518	0.0:0.3128:0.1341:0.5531	5.760	0.17461	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005595	0.000000	0.006812	0.008824	0.000000	0.017241	0.003125	0.000000	0.07895	2319.77	35	chr7	47843041	.	T	C	2319.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.964;DP=682;ExcessHet=0;FS=1.667;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=-0.81;SOR=0.49	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1689,153,0	17	1	1	0
chr7	71710861	71710861	G	A	exonic	GALNT17	.	nonsynonymous SNV	GALNT17:NM_022479:exon10:c.G1601A:p.R534Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2762175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00692179979794	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0003	0.0001164	18	154602	rs373377222	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0.0001	4.472e-05	0.0016	0	0	0.0019	3.148e-05	0.0003	0.0008	6.572e-05	6.567e-05	3.854e-05	9.419e-05	0.0004	3.517e-05	2.617e-05	7.307e-05	3.035e-05	2.413e-05	0	0	0.0009	0	0	0	5.88e-05	0	0.0004	0.447	0.09075	T	0.54	0.09760	T	0.489	0.36925	P	0.294	0.40804	B	0.000001	0.62929	D	0.098275	0.823443	0.34810	D	.	.	.	1.55	0.29866	T	0.55	0.02721	N	0.5	0.53269	-1.0082	0.27479	T	0.073	0.29547	T	10	0.049589813	0.04569	T	0.006922	0.18317	T	0.122	0.33800	.	.	0.68193771998	0.67923	0.5492776087138479	0.54853	0.727103475647	0.62551	0.599982917309	0.52902	T	0.026317	0.19500	T	-0.323857	0.06587	T	-0.375014	0.36305	T	0.056126944678988	0.06544	T	0.89491	0.63503	D	0.058864478	0.11895	0.061024264	0.11717	0.058864478	0.11895	0.061024264	0.11716	-3.516	0.16657	T	.	.	0.081	0.08033	B	.;.	.;.	4.153923	0.62332	24.4	0.99892758006959015	0.96666	0.94161	0.60297	D	AEFDI	0.542931	0.55846	D	0.247939606795627	0.53537	3.522145	0.349030035959633	0.58447	4.015448	0.999708136425655	0.41986	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	5.365000	0.65866	7.307000	0.58111	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0839:0.0:0.9161:0.0	11.119	0.47499	935	0.14827	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2511.81	35	chr7	71710861	.	G	A	2511.81	.	AC=2;AF=0.053;AN=38;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2539,243,0	18	1	0	0
chr7	74317641	74317641	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon2:c.C95T:p.A32V,CLIP2:NM_032421:exon2:c.C95T:p.A32V	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0297341378959	.	.	3.567e-05	0	8.709e-05	0	0	4.721e-05	0	0	2.59e-05	4	154602	rs782235252	1.766e-05	3.831e-05	1.168e-05	2.374e-05	0.0002	1.195e-05	1.004e-05	7.517e-05	5.077e-05	3.412e-05	0.0002	0	0	0	0.0002	1.137e-05	3.624e-05	2.774e-05	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.551e-05	0	0.0002	0	0	1.47e-05	0	0	0.369	0.14111	T	0.161	0.31326	T	0.003	0.11197	B	0.002	0.06944	B	0.966345	0.07749	N	1.024520	1	0.08975	N	0.46	0.12951	N	0.18	0.60361	T	-0.3	0.11913	N	0.103	0.11340	-1.0236	0.22541	T	0.100	0.37060	T	10	0.048820257	0.04384	T	0.029734	0.52190	D	0.041	0.10877	0.255	0.19533	0.418638904736	0.41481	0.19595388829702512	0.19512	0.676354662105	0.59757	0.345049202442	0.17190	T	0.06674	0.33021	T	-0.310905	0.07669	T	-0.490722	0.23315	T	0.0333897312782951	0.02536	T	0.653935	0.26999	T	0.052242614	0.09715	0.038614593	0.03770	0.052242614	0.09715	0.038614593	0.03770	-5.829	0.44826	T	.	.	0.078	0.07889	B	.;.;.	.;.;.	1.613722	0.20617	14.83	0.98111590555033379	0.38359	0.02249	0.06516	N	AEFDBI	0.040604	0.06062	N	-0.914855256240392	0.10495	0.5017397	-0.897238218313302	0.12158	0.6238388	0.640587828665551	0.22050	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.52	2.58	0.30011	0.545000	0.22976	1.348000	0.25786	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.044000	0.14658	0.0:0.6869:0.1997:0.1134	5.662	0.16951	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2718.81	33	chr7	74317641	.	C	T	2718.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=30.21;ReadPosRankSum=-0.534;SOR=0.786	GT:AD:DP:GQ:PL	1/1:2,88:90:99:2746,220,0	18	1	0	0
chr7	75987745	75987745	C	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001363462:exon8:c.G860A:p.R287Q,TMEM120A:NM_001317803:exon9:c.G757A:p.E253K,TMEM120A:NM_031925:exon9:c.G757A:p.E253K	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.894e-06	0	0	0	0	1.608e-05	0	0	6.5e-06	1	154602	rs782587381	9.589e-06	9.577e-06	1.363e-05	5.508e-06	8.961e-05	5.57e-06	4.35e-06	2.374e-05	1.258e-05	8.961e-05	0	0	5.039e-05	0	0	5.397e-06	1.658e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.40909	T	1.0	0.90584	D	0.971	0.72444	D	.	.	.	.	.	.	.	2.77	0.80896	M	.	.	.	.	.	.	0.749	0.74826	.	.	.	.	.	.	.	0.6314427	0.68540	D	.	.	.	.	.	.	.	0.128392430309	0.12331	0.6415676251572893	0.64091	.	.	0.854170680046	0.90243	D	0.07827	0.35851	T	0.227424	0.76478	D	0.0889017	0.76172	D	.	.	.	0.977602	0.92086	D	0.14183517	0.32666	0.37480778	0.62638	0.14183517	0.32665	0.37480778	0.62638	-9.203	0.68994	D	.	.	0.473	0.64618	A	.;.;.	.;.;.	4.646991	0.74039	26.1	0.8775474584060009	0.17458	0.92119	0.54987	D	AEFDGBHCI	0.768128	0.70378	D	.	.	.	.	.	.	0.998917990029215	0.37962	0.295142	0.05270	0	0.271743	0.05004	0	0.283776	0.05401	0	0.322829	0.05601	0	.	.	4.46	3.5	0.39181	3.998000	0.56736	5.902000	0.50901	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.473000	0.28408	0.167:0.833:0.0:0.0	12.548	0.55560	601	0.67921	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3162.81	40	chr7	75987745	.	C	T	3162.81	.	AC=2;AF=0.053;AN=38;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.29;SOR=0.999	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3190,285,0	18	1	0	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	236.83	35	chr7	80674068	.	T	C	236.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.136;DP=1112;ExcessHet=0.119;FS=109.215;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.09;SOR=9.419	GT:AD:DP:GQ:PL	0/1:117,26:143:40:40,0,2422	17	0	2	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,31:180:99:.:.:271,0,5260:.	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,36:182:99:.:.:299,0,5259:.	5	0	14	0
chr7	95120766	95120766	G	T	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166162:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166163:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166160:exon4:c.G1583T:p.G528V,PPP1R9A:NM_017650:exon4:c.G1583T:p.G528V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0408162176909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.986	0.61523	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	1.12	0.38718	T	-7.63	0.96368	D	0.815	0.94077	-0.6403	0.63133	T	0.235	0.60148	T	10	0.7867024	0.78308	D	0.040816	0.59586	D	0.473	0.76619	0.561	0.68093	0.652067639975	0.64917	0.9098393710735511	0.90957	0.773867831764	0.64915	0.900105834007	0.96452	D	0.375415	0.73902	T	0.279523	0.81277	D	0.163739	0.81035	D	0.998916029930115	0.95567	D	0.90251	0.65969	D	0.9636263	0.97643	0.915272	0.96063	0.9636263	0.97643	0.915272	0.96064	-14.973	0.96057	D	.	.	0.997	0.96404	P	.;.;.;.;.;.	.;.;.;.;.;.	5.220956	0.87624	29.3	0.99802489297016972	0.88728	0.99010	0.89916	D	AEFI	0.955204	0.97287	D	0.812331298767372	0.86871	9.026676	0.787229259077123	0.88891	9.75596	0.999999940221245	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.46	4.46	0.53567	9.932000	0.98831	11.709000	0.94623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.437	0.90597	745	0.52414	.;PDZ domain|PDZ domain|PDZ domain;.;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	.	.	.	.	.	.	.	.	0.02632	1083.33	33	chr7	95120766	.	G	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=716;ExcessHet=0;FS=9.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.952;SOR=1.327	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1097,0,981	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,49:130:99:0|1:100175805_G_C:917,0,2762:100175805	1	0	18	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,70:138:99:0|1:100773849_CCAT_C:2694,0,2645:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:84,35:119:99:1219,0,3420	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,169:652:99:0|1:100952942_T_G:6013,0,14608:100952942	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,109:520:99:0|1:100953098_G_C:3520,0,14410:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:346,103:507:99:.:.:3283,0,14218:.	2	0	17	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:279,30:337:72:.:.:399,0,12104:.	14	0	5	0
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	313.29	815	chr7	100953364	.	TTC	T	313.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=11599;ExcessHet=0;FS=19.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.37;MQRankSum=-10.29;QD=0.53;ReadPosRankSum=-2.232;SOR=4.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:547,47:594:99:0|1:100953352_C_A:327,0,22827:100953352	18	0	1	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8426.48	1172	chr7	100953494	.	C	*	8426.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.742;DP=16599;ExcessHet=6.9875;FS=0.87;InbreedingCoeff=-0.3626;MLEAC=2;MLEAF=0.053;MQ=57.3;MQRankSum=-6.987;QD=0.93;ReadPosRankSum=-2.301;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:809,106:984:99:.:.:1971,0,34182:.	17	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	30931.2	1245	chr7	100953548	.	C	T	30931.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=17651;ExcessHet=13.8672;FS=1.743;InbreedingCoeff=-0.5209;MLEAC=2;MLEAF=0.053;MQ=55.64;MQRankSum=-11.53;QD=2.5;ReadPosRankSum=5.2;SOR=0.966	GT:AD:DP:GQ:PL	0/1:798,130:1020:99:3057,0,33117	17	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3903.83	1158	chr7	100953580	.	T	G	3903.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.191;DP=17639;ExcessHet=0.119;FS=3.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.75;MQRankSum=1.28;QD=1.95;ReadPosRankSum=4.65;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:901,117:1018:99:0|1:100953515_C_T:2201,0,37481:100953515	17	0	2	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	491.09	467	chr7	100955170	.	G	*	491.09	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.24;DP=6383;ExcessHet=2.9153;FS=17.057;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.111;MQ=58.69;MQRankSum=-16.33;QD=0.19;ReadPosRankSum=-1.061;SOR=2.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,25:319:99:0|1:100955170_G_T:180,0,12060:100955170	14	0	4	1
chr7	100955172	100955175	CACG	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	241.19	477	chr7	100955172	.	CACG	*	241.19	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.12;DP=6413;ExcessHet=2.0135;FS=24.257;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.118;MQ=58.75;MQRankSum=-15.03;QD=0.1;ReadPosRankSum=-1.203;SOR=3.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,23:327:66:0|1:100955170_G_T:66,0,12486:100955170	13	0	4	2
chr7	100955174	100955177	CGAT	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1686.78	477	chr7	100955174	.	CGAT	*	1686.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.17;DP=6403;ExcessHet=2.0135;FS=13.466;InbreedingCoeff=-0.1878;MLEAC=5;MLEAF=0.132;MQ=57.98;MQRankSum=-8.168;QD=0.73;ReadPosRankSum=-2.426;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,23:327:66:0|1:100955170_G_T:66,0,12486:100955170	14	0	5	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:328,119:571:99:.:.:5713,0,13013:.	14	0	5	0
chr7	101000330	101000330	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9767T:p.T3256I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00798514666272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335016505	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.561e-06	2.624e-05	0	1.342e-05	2.404e-05	0	0	.	.	2.404e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.9	0.23182	L	2.74	0.11730	T	-2.21	0.49684	N	0.102	0.08506	-0.9635	0.38507	T	0.017	0.07092	T	6	0.11649251	0.21976	T	0.007985	0.21162	T	0.044	0.11924	0.182	0.09004	0.0482279557977	0.04254	0.10915055494652391	0.10844	.	.	0.504799723625	0.39497	T	0.009612	0.08738	T	-0.398301	0.02376	T	-0.687364	0.06543	T	0.0791267643741412	0.09874	T	0.228477	0.03050	T	0.06009954	0.12292	0.117392175	0.28340	0.06009954	0.12292	0.117392175	0.28339	-7.021	0.54187	T	.	.	0.188	0.40441	B	.;.	.;.	0.629936	0.09986	6.738	0.25540431256851609	0.01182	0.00327	0.01711	N	AEFBI	0.035370	0.04540	N	-0.93828191547207	0.09957	0.4736184	-1.12678533608973	0.07191	0.3489014	1.17319446599152E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-1.407000	0.02594	-3.429000	0.02794	-2.333000	0.00313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001176	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2943.33	759	chr7	101000330	.	C	T	2943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=26552;ExcessHet=0;FS=2.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.84;MQRankSum=-11.58;QD=1.34;ReadPosRankSum=0.203;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1977,215:2192:99:0|1:101000330_C_T:2957,0,81932:101000330	18	0	1	0
chr7	101036950	101036950	T	0	exonic	MUC17	.	.	.	.	412	950	152	0	8	160	0.0740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4940.88	951	chr7	101036950	.	T	*	4940.88	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=10974;ExcessHet=2.0135;FS=5.325;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=55.31;MQRankSum=-13.01;QD=1.09;ReadPosRankSum=2.69;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,174:521:99:0|1:101036923_A_G:3387,0,11069:101036923	18	0	1	0
chr7	101036953	101036953	G	0	exonic	MUC17	.	.	.	.	413	945	155	0	9	164	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5758.0	952	chr7	101036953	.	G	*	5758.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.732;DP=11101;ExcessHet=2.9153;FS=5.325;InbreedingCoeff=-0.225;MLEAC=1;MLEAF=0.026;MQ=55.29;MQRankSum=-13.21;QD=1.13;ReadPosRankSum=2.08;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,174:532:99:0|1:101036923_A_G:3360,0,11413:101036923	18	0	1	0
chr7	101036962	101036962	C	0	exonic	MUC17	.	.	.	.	411	935	168	0	8	176	0.0824338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7265.03	934	chr7	101036962	.	C	*	7265.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.615;DP=11113;ExcessHet=2.9153;FS=3.887;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.14;MQRankSum=-13.27;QD=1.43;ReadPosRankSum=2.99;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,174:562:99:0|1:101036923_A_G:3279,0,12547:101036923	18	0	1	0
chr7	101036970	101036970	G	0	exonic	MUC17	.	.	.	.	415	931	168	0	8	176	0.0827586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7852.03	920	chr7	101036970	.	G	*	7852.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.583;DP=11115;ExcessHet=2.9153;FS=5.105;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=-13.06;QD=1.55;ReadPosRankSum=3.14;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,174:576:99:0|1:101036923_A_G:3229,0,13209:101036923	18	0	1	0
chr7	101037012	101037013	AG	0	exonic	MUC17	.	.	.	.	0	197	27	0	2	29	0.064133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7903.84	968	chr7	101037012	.	AG	*	7903.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.538;DP=10953;ExcessHet=2.0135;FS=3.621;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=54.79;MQRankSum=-12.27;QD=1.89;ReadPosRankSum=3.7;SOR=0.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,167:553:99:0|1:101037012_AG_*:3243,0,13280:101037012	18	0	1	0
chr7	101037015	101037015	A	0	exonic	MUC17	.	.	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9958.67	975	chr7	101037015	.	A	*	9958.67	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=10927;ExcessHet=4.0268;FS=2.575;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.9;MQRankSum=-11.94;QD=1.83;ReadPosRankSum=1.7;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,167:555:99:0|1:101037012_AG_*:3273,0,12860:101037012	18	0	1	0
chr7	101037018	101037018	G	0	exonic	MUC17	.	.	.	.	0	199	25	0	2	27	0.0591017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	11858.1	981	chr7	101037018	.	G	*	11858.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.738;DP=10925;ExcessHet=4.0268;FS=1.623;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.96;MQRankSum=-11.89;QD=2.19;ReadPosRankSum=1.66;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,167:556:99:0|1:101037012_AG_*:3270,0,12902:101037012	18	0	1	0
chr7	101037032	101037032	A	0	exonic	MUC17	.	.	.	.	418	957	138	0	9	147	0.0672515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6882.03	962	chr7	101037032	.	A	*	6882.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=10795;ExcessHet=2.9153;FS=2.661;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.49;MQRankSum=-13.25;QD=1.42;ReadPosRankSum=0.099;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,167:545:99:0|1:101037012_AG_*:3291,0,12506:101037012	18	0	1	0
chr7	101174661	101174661	C	G	exonic	NAT16	.	nonsynonymous SNV	NAT16:NM_001369695:exon2:c.G147C:p.E49D,NAT16:NM_198571:exon2:c.G147C:p.E49D,NAT16:NM_001369694:exon3:c.G147C:p.E49D	.	423	1098	1	0	0	1	0.000455166	.	.	.	3983369	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0068477830049	.	.	2.479e-05	0	0	0	0	3.008e-05	0	6.061e-05	1.94e-05	3	154602	rs777517613	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	6.956e-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	0.102	0.40832	T	0.148	0.38160	T	0.939	0.52645	P	0.402	0.44547	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.65	0.52867	T	-0.02	0.13035	N	0.076	0.05037	-1.0995	0.04152	T	0.066	0.27330	T	9	0.078008205	0.12382	T	0.006848	0.18121	T	0.065	0.18881	0.153	0.05648	0.0551355673512	0.04727	0.10286581286436608	0.10216	0.518235957225	0.49690	0.371187984943	0.21002	T	0.007227	0.06645	T	-0.304976	0.08199	T	-0.578999	0.14634	T	0.0486942332229296	0.05268	T	0.418758	0.11799	T	0.07372067	0.16494	0.120854646	0.29163	0.07372067	0.16494	0.120854646	0.29162	-4.788	0.34452	T	.	.	0.132	0.36614	B	.;.;.;.	.;.;.;.	1.230972	0.16258	12.42	0.97033914021010459	0.32080	0.02869	0.07640	N	AEFDGBHCI	0.041965	0.06451	N	-0.616570484240209	0.18446	0.9577455	-0.693357154480817	0.17126	0.9092492	0.999997474710134	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.6	2.6	0.30173	-0.320000	0.08070	1.371000	0.25957	0.309000	0.19094	0.001000	0.13787	0.941000	0.28781	0.067000	0.16453	0.0:0.8551:0.0:0.1449	7.794	0.28302	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	730.33	33	chr7	101174661	.	C	G	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.443;DP=748;ExcessHet=0;FS=6.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.775;SOR=0.768	GT:AD:DP:GQ:PL	0/1:33,28:61:99:744,0,882	18	0	1	0
chr7	102491021	102491021	C	T	exonic	RASA4B	.	nonsynonymous SNV	RASA4B:NM_001367767:exon17:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00527601418239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294480397	1.327e-05	1.789e-05	1.394e-05	1.267e-05	7.337e-05	5.77e-06	3.13e-06	6.31e-06	3.86e-06	7.337e-05	0	0	0	0	0	1.815e-05	0	0	3.618e-05	5.306e-05	4.171e-05	3.017e-05	5.085e-05	1.358e-05	8.68e-06	8.43e-06	3.15e-06	5.085e-05	0	0	0.0003	0	0	0	3.195e-05	0	0	0.667	0.05341	T	0.626	0.07292	T	0.002	0.09854	B	0.002	0.06944	B	0.531314	0.11635	N	0.764943	1	0.19925	N	0.35	0.11930	N	1.42	0.33189	T	0.05	0.06488	N	0.052	0.02366	-0.9983	0.30395	T	0.041	0.17700	T	10	0.027993023	0.00937	T	0.005276	0.13464	T	0.008	0.00669	0.271	0.22052	0.043077524339	0.03247	.	.	.	.	.	.	.	0.065898	0.32806	T	-0.508628	0.00511	T	-0.742684	0.03778	T	0.0298783260347119	0.01971	T	0.671533	0.28021	T	0.05093525	0.09278	0.055632368	0.09793	0.05093525	0.09277	0.055632368	0.09793	-5.4	0.40919	T	.	.	0.065	0.02118	B	.;.	.;.	1.187824	0.15789	12.10	0.7696749115508692	0.11682	0.11737	0.16829	N	AEFDGI	0.108111	0.21518	N	-1.02259834273713	0.08135	0.3804352	-1.02134805401309	0.09316	0.4628045	0.010974326231979	0.12111	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.38	2.57	0.29928	0.154000	0.16160	-0.492000	0.08854	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.0:0.7171:0.0:0.2829	7.185	0.24971	514	0.74853	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|RASA4, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|RASA4, PH 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	.	.	.	.	.	.	.	.	0.02778	42.33	10	chr7	102491021	.	C	T	42.33	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.83;DP=103;ExcessHet=0;FS=0;InbreedingCoeff=-0.0643;MLEAC=1;MLEAF=0.028;MQ=32.49;MQRankSum=0;QD=7.05;ReadPosRankSum=-0.842;SOR=0.307	GT:AD:DP:GQ:PL	0/1:4,2:6:55:55,0,111	17	0	1	1
chr7	128338331	128338331	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon5:c.C460T:p.R154C	.	.	.	.	.	.	.	.	.	.	.	3308967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0618641191902	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1021866048	3.558e-05	3.694e-05	2.996e-05	4.126e-05	4.498e-05	2.763e-05	2.502e-05	3.46e-05	3.122e-05	0	0	0	0	0	0	4.498e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.001	0.78490	D	0.064	0.44905	T	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.054939	1	0.81001	D	2.365	0.68172	M	-1.14	0.77843	T	-3.37	0.66665	D	0.903	0.90363	0.184	0.85634	D	0.617	0.86485	D	10	0.77461773	0.77357	D	0.061864	0.68469	D	0.296	0.61616	0.688	0.82558	0.996474981319	0.99643	0.7033894068741093	0.70279	0.715226903823	0.61935	0.806517601013	0.82958	D	0.037676	0.24563	T	0.363529	0.87522	D	0.284408	0.87361	D	0.992219865322113	0.82641	D	0.914708	0.98649	D	0.4379297	0.63268	0.40584916	0.64974	0.4379297	0.63269	0.40584916	0.64974	-11.565	0.82668	D	.	.	0.37	0.64740	A	.;.	.;.	5.885746	0.93947	33	0.99910765808933366	0.98022	0.96446	0.69180	D	AEFBI	0.736665	0.68210	D	0.802309994997942	0.86249	8.825412	0.793937445219644	0.89366	9.946371	0.999999456355312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	6.481000	0.73517	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.397	0.87339	647	0.63344	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1023.33	33	chr7	128338331	.	G	A	1023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=719;ExcessHet=0;FS=1.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.68;SOR=0.484	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1037,0,1366	18	0	1	0
chr7	128351623	128351623	C	T	exonic	PRRT4	.	nonsynonymous SNV	PRRT4:NM_001174164:exon6:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.624149122672	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs767583454	2.721e-05	2.805e-05	1.885e-05	3.581e-05	0.0003	2.008e-05	1.753e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.672e-06	0.0001	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.039	0.42487	D	0.027	0.55341	D	0.989	0.62824	D	0.554	0.49340	P	.	.	.	.	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.93	0.24898	N	0.113	0.10340	-1.0599	0.11781	T	0.072	0.29291	T	8	0.13719025	0.26098	T	0.624149	0.96754	D	0.175	0.44197	0.249	0.18602	0.0762999501168	0.06990	0.14860101575701043	0.14782	.	.	0.840235710144	0.88130	D	0.002157	0.01556	T	-0.349278	0.04773	T	-0.460055	0.26594	T	0.159578132194354	0.17841	T	0.622038	0.23930	T	0.18244	0.39464	0.29339913	0.55368	0.18244	0.39463	0.29339913	0.55367	-3.857	0.21659	T	.	.	0.082	0.08997	B	.;.	.;.	3.861116	0.56000	23.7	0.99801270764717298	0.88639	0.77735	0.38256	D	AEFDBCI	.	.	.	0.190749073456365	0.50756	3.262562	0.22112187037365	0.51020	3.288341	0.999999954084754	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.73	3.73	0.41982	0.588000	0.23626	7.156000	0.57690	0.512000	0.23348	0.001000	0.13787	1.000000	0.68203	0.937000	0.47636	0.0:1.0:0.0:0.0	13.405	0.60352	639	0.64210	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	390.33	21	chr7	128351623	.	C	T	390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=518;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.47;SOR=0.904	GT:AD:DP:GQ:PL	0/1:17,14:31:99:404,0,419	18	0	1	0
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H,CCDC136:NM_022742:exon4:c.G652C:p.D218H,CCDC136:NM_001363423:exon5:c.G802C:p.D268H,CCDC136:NM_001367761:exon5:c.G802C:p.D268H,CCDC136:NM_001367763:exon5:c.G802C:p.D268H,CCDC136:NM_001367764:exon5:c.G802C:p.D268H,CCDC136:NM_001367765:exon5:c.G652C:p.D218H	.	430	1075	17	0	0	17	0.00784495	.	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.010870	0.002924	0.000000	0.025862	0.006098	0.015152	0.02632	1145.33	38	chr7	128801491	.	G	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.029;SOR=0.804	GT:AD:DP:GQ:PL	0/1:34,37:71:99:1159,0,981	18	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R,CCDC136:NM_001367764:exon16:c.G3088A:p.G1030R	.	422	1082	17	1	0	19	0.00870362	.	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.020202	0.012228	0.002924	0.000000	0.025862	0.009146	0.015152	0.02632	1262.33	33	chr7	128814812	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=717;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.18;SOR=0.598	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1276,0,999	18	0	1	0
chr7	128840575	128840575	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.G1577A:p.R526Q,FLNC:NM_001458:exon10:c.G1577A:p.R526Q	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	190795	not_specified|not_provided|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.199	.	0.0014	0.00299521	0.0023	0.0010	0.0007	0	0	0.0012	0.0011	0.0108	0.0021927	339	154602	rs34932223	0.0022	0.0022	0.0019	0.0025	0.0096	0.0021	0.0021	0.0091	0.0089	0.0012	0.0016	0	0	0.0001	0.0016	0.0019	0.0020	0.0096	0.0016	0.0016	0.0017	0.0015	0.0085	0.0014	0.0014	0.0064	0.0057	0.0008	0	0.0020	0	0	0.0006	0	0.0019	0.0009	0.0085	0.044	0.41096	D	0.245	0.24054	T	0.027	0.19556	B	0.015	0.17295	B	0.241004	0.15711	N	0.620373	1	0.08975	N	1.135	0.28956	L	-1.84	0.84195	D	-1.35	0.33598	N	0.314	0.36359	-0.6014	0.64759	T	0.389	0.74394	T	10	0.0068624616	0.00156	T	.	.	.	0.199	0.48268	.	.	0.426039362998	0.42221	0.32783013417972684	0.32696	0.319035525961	0.34116	0.35458356142	0.18594	T	0.357542	0.72423	T	-0.402556	0.02228	T	-0.343059	0.39998	T	0.00742864542466097	0.00086	T	0.836416	0.50788	T	0.04008348	0.05657	0.059511866	0.11181	0.041022338	0.05964	0.059008688	0.11001	-5.347	0.40406	T	0.1896189704614919	0.24810	0.076	0.07793	B	.;.	.;.	2.499507	0.32263	18.99	0.99504341911348548	0.68206	0.21797	0.21527	N	AEFDBHCI	0.101347	0.20358	N	-0.719623274724168	0.15470	0.7799423	-0.611670608056233	0.19194	1.028686	0.999994398205015	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	4.41	0.52588	0.487000	0.22064	5.217000	0.47986	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.763000	0.36255	0.1663:0.0:0.8337:0.0	10.703	0.45131	626	0.65439	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	967.33	34	chr7	128840575	.	G	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.591;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,38:82:99:981,0,1004	18	0	1	0
chr7	128853721	128853721	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon38:c.C6269T:p.P2090L,FLNC:NM_001458:exon39:c.C6368T:p.P2123L	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.812660111263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	-4.01	0.96370	D	-8.06	0.96621	D	0.974	0.98466	1.085	0.99032	D	0.968	0.98979	D	10	0.9804003	0.98011	D	0.81266	0.98540	D	0.981	0.99874	0.855	0.95491	0.967286372181	0.96693	0.8803126068890481	0.87999	1.75556076404	0.91035	0.900573730469	0.96504	D	0.929368	0.98794	D	0.561595	0.96267	D	0.568916	0.96208	D	0.999396562576294	0.97233	D	0.995075	0.98330	D	0.7097944	0.78596	0.70031816	0.82343	0.7097944	0.78597	0.70031816	0.82344	-14.449	0.94424	D	0.6714964108597865	0.74650	0.894	0.86205	P	.;.	.;.	5.045797	0.84013	28.2	0.99925104144674715	0.99042	0.95699	0.65780	D	AEFBCI	0.929264	0.91475	D	1.04725334880132	0.97025	15.47799	0.936140470048611	0.96963	15.39058	0.999999999999989	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.879000	0.85694	7.646000	0.63445	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.823	0.92070	607	0.67291	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1848.33	35	chr7	128853721	.	C	T	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=768;ExcessHet=0;FS=6.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.92;SOR=0.881	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1862,0,1803	18	0	1	0
chr7	130308381	130308381	G	A	exonic	CPA4	.	stopgain	CPA4:NM_001163446:exon7:c.G678A:p.W226X,CPA4:NM_016352:exon8:c.G777A:p.W259X	.	421	1100	1	0	0	1	0.000454339	.	.	.	699850	not_provided|CPA4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0032	0.000798722	0.0023	0.0008	0.0014	0	0.0006	0.0034	0.0022	0.0018	0.002542	393	154602	rs145012020	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0006	0.0015	0.0040	0	0.0009	0.0012	0.0043	0.0031	0.0024	0.0025	0.0025	0.0027	0.0022	0.0039	0.0023	0.0022	0.0035	0.0033	0.0008	0	0.0026	0.0040	0	0.0008	0	0.0039	0.0038	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.268	0.30914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223232	0.76082	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	10.585349	0.99796	48	0.99349368427856977	0.60533	0.80547	0.40156	D	AEFDBCI	0.178298	0.30556	N	0.949683584541972	0.93972	12.40885	0.839465570298625	0.92385	11.39654	0.98994464690964	0.31984	0.693126	0.56070	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.139000	0.76905	11.801000	0.96654	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	17.566	0.87816	611	0.66908	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;.;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1311.33	34	chr7	130308381	.	G	A	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.817;DP=754;ExcessHet=0;FS=1.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.068;SOR=0.555	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1325,0,1725	18	0	1	0
chr7	132130556	132130556	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon32:c.C5608T:p.H1870Y	.	419	1071	30	2	0	34	0.015625	.	.	.	3192562	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.179	0.0145389197481	0.0037	0.00239617	0.0034	0.0007	0.0032	0	0.0014	0.0038	0.0044	0.0061	0.0032406	501	154602	rs150228337	0.0034	0.0034	0.0033	0.0036	0.0168	0.0034	0.0033	0.0141	0.0131	0.0005	0.0034	0.0091	0	0.0012	0.0168	0.0032	0.0046	0.0072	0.0030	0.0030	0.0030	0.0031	0.0050	0.0028	0.0027	0.0041	0.0037	0.0009	0.0395	0.0050	0.0078	0	0.0014	0.0204	0.0034	0.0047	0.0048	0.015	0.52492	D	0.008	0.67890	D	0.158	0.28271	B	0.044	0.24394	B	0.000008	0.62929	D	0.112116	0.999998	0.58761	D	0.345	0.11182	N	5.56	0.00864	T	-1.9	0.44284	N	0.282	0.31925	-0.3632	0.73168	T	0.002	0.00707	T	10	0.0074129403	0.00169	T	0.014539	0.34724	T	0.179	0.44899	.	.	0.102598925029	0.09809	0.1172842649708978	0.11656	0.773028615112	0.64876	0.389258414507	0.23565	T	0.175158	0.52464	T	-0.457932	0.01013	T	-0.426279	0.30358	T	0.0214244670018664	0.00845	T	0.70513	0.31558	T	0.14211065	0.32717	0.211634	0.45600	0.14211065	0.32716	0.211634	0.45599	-6.958	0.53727	T	.	.	0.090	0.12465	B	.;.	.;.	3.855395	0.55878	23.7	0.98688942737168184	0.44723	0.99491	0.96677	D	AEFDGBIJ	0.930001	0.91663	D	0.0916011758752532	0.46070	2.853277	0.312116949463604	0.56251	3.788185	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.088000	0.89344	8.627000	0.77836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.340	0.94324	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.012228	0.002924	0.000000	0.000000	0.018293	0.022727	0.02632	950.33	148	chr7	132130556	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=2029;ExcessHet=0;FS=1.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.092;SOR=0.948	GT:AD:DP:GQ:PL	0/1:67,37:104:99:964,0,1837	18	0	1	0
chr7	132223612	132223612	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon9:c.G2012A:p.R671H	.	.	.	.	.	.	.	.	.	.	.	3510310	not_specified|PLXNA4-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00418861870034	.	.	4.455e-05	0	9.29e-05	0	0	3.199e-05	0	0.0001	3.88e-05	6	154602	rs754690916	1.369e-05	1.368e-05	1.498e-05	1.238e-05	0.0005	8.94e-06	7.27e-06	0.0001	7.541e-05	5.975e-05	4.475e-05	0	0	1.874e-05	0.0005	7.196e-06	0	4.645e-05	3.288e-05	3.284e-05	5.141e-05	1.346e-05	0.0001	1.262e-05	7.98e-06	2.264e-05	9.08e-06	4.829e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.105	0.38016	T	0.879	0.48338	P	0.343	0.42509	B	0.000000	0.84330	D	0.056342	0.996094	0.43014	D	1.93	0.51437	L	2.34	0.16351	T	-1.11	0.28703	N	0.494	0.52740	-1.1646	0.00651	T	0.045	0.19152	T	10	0.48475444	0.60641	T	0.004189	0.10089	T	0.120	0.33359	0.664	0.80199	0.223474106383	0.21959	0.2645147185229475	0.26364	0.733718582525	0.62856	0.433667182922	0.29710	T	0.058577	0.30881	T	-0.253696	0.13649	T	-0.420047	0.31070	T	0.0789713410009153	0.09855	T	0.873813	0.58316	D	0.24230671	0.47156	0.15816359	0.36949	0.24230671	0.47156	0.15816359	0.36948	-8.403	0.63785	D	.	.	0.076	0.05935	B	.;.	.;.	4.669488	0.74619	26.2	0.99887801258780562	0.96281	0.89684	0.50307	D	AEFDBI	0.436865	0.49690	N	0.418419744149337	0.62436	4.459359	0.492397013361658	0.67486	5.090375	0.999981616963066	0.51787	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	1.956000	0.40007	1.789000	0.28782	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9254:0.0:0.0746	12.948	0.57779	875	0.30485	PSI domain;PSI 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	1273.33	35	chr7	132223612	.	C	T	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=756;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.996;SOR=0.803	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1287,0,1458	18	0	1	0
chr7	134536754	134536754	T	G	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon5:c.T534G:p.Y178X	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0005	0	8.639e-05	0	0.0002	0.0002	0	0.0023	0.0004269	66	154602	rs150738610	0.0003	0.0003	0.0002	0.0005	0.0036	0.0003	0.0003	0.0031	0.0029	0	0.0002	3.827e-05	0	3.744e-05	0.0036	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000427	0.44522	D	0.236906	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176159	0.71689	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.092638	0.96132	35	0.9908041505210391	0.51954	0.69411	0.34177	D	AEFCI	0.310110	0.41622	N	-0.018785366680861	0.41006	2.445101	-0.288767321328559	0.28467	1.587499	0.999905019883353	0.45458	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.68	-3.56	0.04330	0.007000	0.13074	-5.727000	0.01616	-0.234000	0.07639	0.921000	0.31989	0.000000	0.08366	0.996000	0.76049	0.0:0.7532:0.0:0.2468	14.435	0.66849	822	0.40702	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.001775	0.000000	0.001366	0.000000	0.000000	0.000000	0.003623	0.004237	0.02632	1312.33	34	chr7	134536754	.	T	G	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=782;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.02;MQRankSum=-0.013;QD=10.94;ReadPosRankSum=-1.288;SOR=0.561	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1326,0,1915	18	0	1	0
chr7	138861140	138861140	C	G	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.G5246C:p.S1749T,KIAA1549:NM_020910:exon16:c.G5246C:p.S1749T	.	.	.	.	.	.	.	.	0.0004	0.008	.	3276085	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.017993561348	.	.	1.667e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs766713366	1.711e-05	1.71e-05	1.225e-05	2.201e-05	0.0001	1.174e-05	9.92e-06	7.999e-05	6.238e-05	0	0	0	0	0	0	1.169e-05	0	0.0001	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.173	0.23095	T	0.286	0.21277	T	0.763	0.43659	P	0.311	0.41430	B	0.333037	0.14083	N	0.710504	0.999998	0.08975	N	2.52	0.73523	M	1.87	0.24085	T	-1.22	0.30964	N	0.391	0.44090	-1.0794	0.07465	T	0.044	0.19029	T	10	0.1490787	0.28220	T	0.017994	0.39899	T	0.031	0.07369	0.108	0.01928	0.117191471859	0.11215	0.3075361738221834	0.30666	0.259224279476	0.28482	0.412326812744	0.26778	T	0.010335	0.09344	T	-0.330031	0.06109	T	-0.530315	0.19255	T	0.341859966516495	0.26697	T	0.591441	0.21800	T	0.08916507	0.20824	0.090090215	0.21105	0.08916507	0.20824	0.090090215	0.21105	-4.408	0.30216	T	.	.	0.093	0.21125	B	.;.	.;.	1.716604	0.21855	15.38	0.80728115085361296	0.13340	0.54728	0.29687	D	AEFDBI	0.133721	0.25348	N	-0.482826138556138	0.22644	1.210528	-0.473301969534018	0.22893	1.245682	0.963219975754309	0.28676	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	3.72	0.41857	1.541000	0.35732	1.408000	0.26256	0.595000	0.32841	0.756000	0.29198	0.408000	0.24745	0.218000	0.22407	0.0:0.8359:0.0:0.1641	10.576	0.44419	723	0.55174	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1450.33	33	chr7	138861140	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=761;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=2;SOR=0.506	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1464,0,1930	18	0	1	0
chr7	140017723	140017723	G	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1234T:p.G412W,TBXAS1:NM_001061:exon12:c.G1417T:p.G473W,TBXAS1:NM_001314028:exon12:c.G1360T:p.G454W,TBXAS1:NM_001166253:exon13:c.G1555T:p.G519W,TBXAS1:NM_001166254:exon14:c.G1216T:p.G406W,TBXAS1:NM_001130966:exon16:c.G1417T:p.G473W	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1517	4	0	1	5	0.00131666	.	.	YES	614310	Thromboxane_synthetase_deficiency|Ghosal_hematodiaphyseal_dysplasia|not_provided|not_specified	MONDO:MONDO:0013597,MedGen:C0398635,OMIM:614158|MONDO:MONDO:0009274,MedGen:C1856465,OMIM:231095,Orphanet:1802|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.890	0.354936158424	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0.0011	0	0.0001552	24	154602	rs149988492	0.0001	0.0001	0.0001	0.0001	0.0007	9.469e-05	8.951e-05	0.0002	0.0001	0	0.0003	0.0001	0	0	0.0007	0.0001	0.0002	1.159e-05	5.915e-05	5.911e-05	5.14e-05	6.726e-05	0.0001	3.078e-05	2.21e-05	5.842e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.36	0.80125	T	-7.5	0.95045	D	0.878	0.87590	0.865	0.95219	D	0.785	0.92691	D	10	0.9624627	0.95674	D	0.354936	0.92365	D	0.890	0.96836	.	.	0.850426547833	0.84899	0.9412587160664153	0.94106	0.605192365814	0.55423	0.649990916252	0.59984	T	0.353429	0.72072	T	0.224876	0.76236	D	0.382802	0.91530	D	0.991000950336456	0.81251	D	0.962504	0.89738	D	.	.	.	.	.	.	.	.	-13.527	0.91417	D	.	.	0.93	0.85022	P	.;.;.;.;.	.;.;.;.;.	5.453351	0.91076	32	0.9963052165496068	0.76020	0.94643	0.61838	D	AEFDBCI	0.955023	0.97256	D	0.801783039392549	0.86219	8.815184	0.64072296924908	0.77921	6.77347	0.999999999999998	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	7.031000	0.76223	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	15.408	0.74613	934	0.15400	.;Cytochrome P450, conserved site;Cytochrome P450, conserved site;Cytochrome P450, conserved site;Cytochrome P450, conserved site	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	974.33	33	chr7	140017723	.	G	T	974.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=728;ExcessHet=0;FS=2.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.3;SOR=1.061	GT:AD:DP:GQ:PL	0/1:47,41:88:99:988,0,1063	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,15:96:72:0|1:143478290_A_G:72,0,2751:143478290	9	0	9	1
chr7	151197007	151197007	T	C	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon9:c.A1177G:p.M393V	.	926	590	5	1	0	7	0.00589722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.000461	12	26028	rs200397573	0.0005	0.0003	0.0005	0.0005	0.0015	0.0004	0.0004	0.0004	0.0004	0.0001	0.0008	0	0.0002	0.0002	0.0015	0.0005	0.0015	0.0010	0.0005	0.0005	0.0005	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0011	0	0.0010	0.0002	0.0034	0.0005	0.0009	0.0019	.	.	.	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.017893732	0.00385	T	.	.	.	.	.	.	.	0.12205267543	0.11705	0.05514389037176918	0.05455	.	.	.	.	.	0.007496	0.06902	T	-0.773216	0.00012	T	-0.918826	0.00385	T	.	.	.	0.183882	0.01892	T	0.10816448	0.25575	0.26351547	0.52158	0.10816448	0.25575	0.26351547	0.52157	-3.342	0.14285	T	.	.	0.049	0.00109	B	.	.	-0.955716	0.00836	0.029	0.45823347741655868	0.03625	0.00157	0.00941	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.373064344364855	0.19889	0.095506	0.02484	0	0.059962	0.00310	0	0.074216	0.02223	0	0.109499	0.03221	0	0.118504	0.24468	3.99	-1.72	0.07671	-1.622000	0.02145	-1.528000	0.05238	-1.087000	0.01546	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4351:0.1589:0.4059	4.551	0.11510	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2095.33	33	chr7	151197007	.	T	C	2095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.5;SOR=0.698	GT:AD:DP:GQ:PL	0/1:68,79:147:99:2109,0,1941	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:224,79:303:99:1200,0,7535	1	0	18	0
chr7	157009752	157009752	G	A	exonic	MNX1	.	nonsynonymous SNV	MNX1:NM_005515:exon1:c.C599T:p.P200L	Currarino syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.949688789703	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392587828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.664	0.41009	P	0.271	0.39904	B	0.001697	0.38271	U	0.000000	1	0.81001	D	1.04	0.26193	L	-3.11	0.92721	D	-3.72	0.70793	D	0.341	0.38232	0.216	0.86180	D	0.652	0.87893	D	9	0.4811707	0.60439	T	0.949689	0.99654	D	0.487	0.77528	0.485	0.56780	0.808758910219	0.80696	0.6898401136077292	0.68924	.	.	0.941939234734	0.99525	D	0.693446	0.91108	D	0.0768296	0.61667	D	-0.127416	0.61187	T	0.963816106319427	0.66770	D	0.841416	0.51702	T	0.31526998	0.54238	0.42820308	0.66541	0.31526998	0.54238	0.42820308	0.66541	-8.952	0.67387	D	0.3837195537475753	0.47779	0.314	0.54079	B	.	.	4.081398	0.60712	24.3	0.99724588232909317	0.82336	0.97370	0.74320	D	AEFDBHCI	0.732814	0.67945	D	0.0284875035884944	0.43153	2.613929	0.0122677762482314	0.40282	2.401632	0.99999999999975	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.92	2.92	0.32998	3.251000	0.51154	11.184000	0.88420	0.490000	0.22344	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	12.603	0.55864	790	0.46189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1687.33	40	chr7	157009752	.	G	A	1687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=778;ExcessHet=0;FS=3.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=3.18;SOR=1.021	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1701,0,1519	18	0	1	0
chr8	7337350	7337350	G	A	exonic	USP17L4	.	nonsynonymous SNV	USP17L4:NM_001256874:exon1:c.G236A:p.G79E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209188425	0.0073	0.0095	0.0063	0.0082	0.0272	0.0071	0.0070	0.0259	0.0254	0.0013	0.0052	0.0006	0.0041	0.0066	0.0053	0.0054	0.0059	0.0272	0.0004	0.0012	0.0004	0.0005	0.0040	0.0002	0.0001	0.0011	0.0006	0	0	0	0	0.0011	0.0009	0	0.0001	0	0.0040	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.645	0.94141	H	.	.	.	.	.	.	0.604	0.62188	.	.	.	.	.	.	.	0.78814137	0.78425	D	.	.	.	.	.	.	.	0.20549828249	0.20151	0.12225456181353286	0.12152	.	.	0.692608654499	0.66081	T	0.224305	0.58871	T	0.217356	0.75525	D	0.074441	0.75207	D	.	.	.	0.871013	0.57621	D	0.088158	0.20557	0.16885585	0.38877	0.088158	0.20556	0.16885585	0.38876	-10.176	0.74959	D	.	.	0.314	0.54027	B	.	.	3.414631	0.47383	22.4	0.72387234110835907	0.09956	0.86226	0.45466	D	AEFI	.	.	.	.	.	.	.	.	.	0.00331706408813929	0.10051	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.623855	0.41239	0.588	0.588	0.16630	7.339000	0.78520	3.483000	0.38662	0.465000	0.21702	1.000000	0.71638	0.967000	0.29559	0.008000	0.08271	1.0E-4:0.0:0.9999:0.0	7.164	0.24857	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	.	.	.	.	.	.	.	.	0.02632	31.54	4	chr8	7337350	.	G	A	31.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=136;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.026;MQ=32.98;MQRankSum=-1.383;QD=7.89;ReadPosRankSum=0;SOR=2.209	GT:AD:DP:GQ:PL	0/1:2,2:4:45:45,0,72	18	0	1	0
chr8	7482710	7482710	C	G	exonic	DEFB106A;DEFB106B	.	nonsynonymous SNV	DEFB106B:NM_001040704:exon2:c.G92C:p.G31A,DEFB106A:NM_152251:exon2:c.G92C:p.G31A	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0252906856732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.225	0.25514	T	.	.	.	.	.	.	0.000227	0.47286	D	0.000000	1	0.08975	N	.	.	.	0.03	0.62183	T	-6.0	0.89534	D	0.715	0.71765	-0.6674	0.61946	T	0.372	0.73076	T	9	0.73233545	0.74384	D	0.025291	0.48264	D	0.205	0.49236	0.397	0.42426	0.594874987132	0.59165	0.7415104533306115	0.74097	.	.	0.58139193058	0.50282	T	.	.	.	0.0454031	0.57748	T	-0.172558	0.57210	T	0.978051602840424	0.72138	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56882	A	.	.	3.095569	0.41698	21.4	0.99285270063725062	0.58043	0.33830	0.24923	N	AEFI	0.066860	0.13115	N	0.0737501000505284	0.45239	2.783936	-0.120630025707348	0.34558	1.989295	4.03640174806796E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	1.682000	0.37245	4.760000	0.44710	0.519000	0.23678	0.778000	0.29449	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	9.647	0.39037	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1327.8	33	chr8	7482710	.	C	G	1327.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.92;DP=822;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=33;MQRankSum=0.17;QD=5.38;ReadPosRankSum=-1.514;SOR=0.653	GT:AD:DP:GQ:PL	0/1:76,22:98:99:322,0,2025	16	0	3	0
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	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	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,67:272:99:.:.:1921,0,3689:.	6	0	10	3
chr8	10610095	10610095	-	CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG:p.G1335_G2392delinsRVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs770045968	2.54e-05	4.068e-05	2.524e-05	2.555e-05	0.0004	1.767e-05	1.501e-05	0.0002	0.0002	0.0004	6.776e-05	5.752e-05	0	0	0.0002	1.033e-05	4.797e-05	1.503e-05	0.0002	0.0003	0.0004	8.07e-05	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6024.29	290	chr8	10610095	.	C	CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	6024.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.139;DP=5341;ExcessHet=0;FS=3.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.73;MQRankSum=-3.478;QD=23.53;ReadPosRankSum=1.54;SOR=0.639	GT:AD:DP:GQ:PL	0/1:138,118:256:99:6038,0,8193	18	0	1	0
chr8	10674782	10674782	G	A	exonic	C8orf74	.	stopgain	C8orf74:NM_001040032:exon2:c.G185A:p.W62X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.0001	0	0	0	0	2.145e-05	0	0.0009	9.7e-05	15	154602	rs754122752	3.713e-05	3.899e-05	1.64e-05	5.812e-05	0.0006	2.908e-05	2.605e-05	0.0004	0.0004	0	0	0	0	0	0	4.51e-06	3.326e-05	0.0006	2.629e-05	2.627e-05	2.571e-05	2.691e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000032	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.061	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356478	0.86982	D	0.61701	0.97470	D	0.63640905297707	0.37885	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.667720	0.97860	38	0.99664207279889261	0.78138	0.97714	0.76605	D	AEFDBI	0.089620	0.18165	N	0.763281230055913	0.83768	8.104446	0.60694550804587	0.75442	6.311464	0.999997262132438	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.06	5.06	0.67838	3.605000	0.53839	11.674000	0.94138	0.582000	0.30178	0.989000	0.36753	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	15.905	0.79209	768	0.49510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1647.33	40	chr8	10674782	.	G	A	1647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=858;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.647;SOR=0.886	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1661,0,1397	18	0	1	0
chr8	11758326	11758326	C	A	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon6:c.C562A:p.P188T,GATA4:NM_001374274:exon6:c.C436A:p.P146T,GATA4:NM_001308093:exon7:c.C1183A:p.P395T,GATA4:NM_001308094:exon7:c.C562A:p.P188T,GATA4:NM_002052:exon7:c.C1180A:p.P394T	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	396274	not_provided|46,XY_sex_reversal_3|Atrioventricular_septal_defect_4|not_specified	MedGen:C3661900|MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.366	.	.	0.00638978	0.0025	0	0.0003	0.0003	0	0	0.0011	0.0181	0.002238	346	154602	rs200319078	0.0011	0.0011	0.0006	0.0015	0.0169	0.0010	0.0010	0.0162	0.0159	5.974e-05	2.236e-05	0	7.557e-05	0	0.0014	7.194e-06	0.0015	0.0169	0.0007	0.0007	0.0004	0.0010	0.0208	0.0006	0.0005	0.0175	0.0162	0.0001	0	0	0	0	0	0	0	0	0.0208	0.13	0.26740	T	0.486	0.16425	T	0.025	0.19245	B	0.031	0.21939	B	0.421236	0.12868	N	0.732373	0.91172	0.27492	N	1.01	0.25309	L	-5.28	0.98949	D	-0.69	0.20791	N	0.051	0.19190	0.407	0.89196	D	0.803	0.93340	D	10	0.0037125945	0.00069	T	.	.	.	0.366	0.68582	0.185	0.09388	0.810781027711	0.80900	0.35724699173817803	0.35638	0.186432944156	0.20951	0.324314534664	0.14075	T	0.269614	0.79696	T	-0.218379	0.18214	T	-0.0721823	0.65471	T	0.0135299362352083	0.00248	T	.	.	.	0.062273927	0.12988	0.066750295	0.13717	0.06545455	0.13988	0.07762411	0.17308	-3.721	0.19628	T	.	.	0.060	0.00995	B	.;.;.;.	.;.;.;.	1.883491	0.23925	16.20	0.85154422955099829	0.15718	0.85099	0.44204	D	AEFDGBI	0.683393	0.64609	D	-0.423283366710638	0.24655	1.332809	-0.240285887587514	0.30107	1.692384	0.996026884083241	0.34476	0.549168	0.22868	0	0.627178	0.54094	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	5.61	2.67	0.30756	0.108000	0.15232	.	.	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.866000	0.41154	0.0:0.4041:0.2081:0.3878	4.623	0.11853	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	465.33	34	chr8	11758326	.	C	A	465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=676;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.792;SOR=0.934	GT:AD:DP:GQ:PL	0/1:28,19:47:99:479,0,759	18	0	1	0
chr8	12138525	12138525	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G236A:p.G79E	.	591	913	16	2	0	20	0.0108342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00171972351428	.	.	7.753e-05	0.0001	0	0.0001	0	6.827e-05	0	0.0001	4.53e-05	7	154602	rs201032518	0.0018	0.0063	0.0014	0.0023	0.0128	0.0018	0.0017	0.0121	0.0118	0.0004	0.0018	0.0003	0.0042	0.0027	0.0010	0.0010	0.0017	0.0128	0.0009	0.0036	0.0007	0.0011	0.0069	0.0008	0.0007	0.0048	0.0041	0.0001	0	0.0011	0	0.0019	0.0014	0	0.0009	0	0.0069	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.000000	0.998806	0.45475	D	3.69	0.94526	H	3.44	0.05375	T	-6.93	0.93404	D	0.605	0.62273	-1.0473	0.15159	T	0.072	0.29387	T	10	0.46278515	0.59387	T	0.00172	0.02882	T	0.144	0.38394	.	.	0.643127189037	0.64018	0.09958374844969137	0.09889	1.3443435746	0.83939	0.582196474075	0.50394	T	0.111641	0.42729	T	-0.0818442	0.39416	T	-0.35534	0.38590	T	0.790776968002319	0.45741	D	0.860314	0.55333	D	0.7436556	0.80502	0.470007	0.69265	0.7436556	0.80503	0.470007	0.69265	-10.699	0.77981	D	.	.	0.614	0.69452	P	.	.	3.342615	0.46062	22.2	0.99199783208081638	0.55231	0.64391	0.32392	D	AEFBI	0.371542	0.45751	N	0.204690972063235	0.51425	3.32394	-0.135026311921286	0.33990	1.950213	0.00691229304308845	0.11340	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	5.734000	0.68224	2.400000	0.32587	0.281000	0.18624	0.998000	0.41325	0.013000	0.20296	0.201000	0.21925	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004289	0.000000	0.002882	0.000000	0.000000	0.000000	0.007407	0.009009	0.03125	44.58	58	chr8	12138525	.	C	T	44.58	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.249;DP=2610;ExcessHet=0;FS=16.694;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.031;MQ=53.71;MQRankSum=-7.374;QD=0.24;ReadPosRankSum=-2.31;SOR=2.296	GT:AD:DP:GQ:PL	0/1:167,22:189:57:57,0,5032	15	0	1	3
chr8	12186577	12186577	G	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C415T:p.L139F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	.	.	.	0.0051	0	0.0032	0	0	0	0	0.0132	3.84e-05	1	26028	rs749586537	0.0007	0.0008	0.0004	0.0009	0.0106	0.0006	0.0006	0.0100	0.0098	6.037e-05	0.0001	0	7.657e-05	0	0.0002	1.175e-05	0.0009	0.0106	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	2.422e-05	0	0	0	0	0	0	1.477e-05	0	0.0120	0.008	0.58626	D	0.012	0.63918	D	0.998	0.90584	D	0.992	0.88582	D	.	.	.	.	0.997041	0.81001	D	3.305	0.90531	M	2.79	0.11189	T	-2.75	0.58407	D	0.448	0.48596	-1.0409	0.17041	T	0.083	0.32585	T	9	0.014749914	0.00310	T	.	.	.	0.200	0.48430	0.644	0.78117	0.043077524339	0.03247	0.6070799559756553	0.60638	3.21115196292	0.99499	.	.	.	0.042247	0.26120	T	-0.12958	0.31564	T	-0.423909	0.30628	T	0.170433887695265	0.18609	T	0.927207	0.73169	D	0.54835236	0.69863	0.47457963	0.69549	0.54835236	0.69864	0.47457963	0.69550	-11.125	0.80338	D	.	.	0.209	0.43680	B	.;.	.;.	3.625088	0.51325	23.1	0.99634348622529212	0.76264	0.46111	0.27687	N	AEFI	0.210150	0.33606	N	0.101011246462483	0.46509	2.890256	-0.154179879025036	0.33248	1.899886	1.43176758521953E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	1.17	0.19998	1.537000	0.35689	3.436000	0.38348	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:1.0:0.0	8.265	0.30971	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	.	.	.	.	.	.	.	.	0.02632	125.33	35	chr8	12186577	.	G	A	125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.966;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.13;MQRankSum=0.005;QD=1.24;ReadPosRankSum=-1.763;SOR=0.701	GT:AD:DP:GQ:PL	0/1:85,16:101:99:139,0,2148	18	0	1	0
chr8	22571127	22571127	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_001018003:exon7:c.G623A:p.R208H,SORBS3:NM_005775:exon18:c.G1649A:p.R550H	.	429	1076	14	3	0	20	0.0092081	.	.	.	736591	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00379105092033	0.0029	0.00139776	0.0023	0.0008	0.0017	0.0001	0.0012	0.0035	0.0012	0.0003	0.0024515	379	154602	rs34059820	0.0031	0.0031	0.0031	0.0031	0.0040	0.0030	0.0030	0.0035	0.0035	0.0005	0.0017	0.0010	2.522e-05	0.0012	0.0040	0.0036	0.0035	0.0005	0.0022	0.0022	0.0026	0.0018	0.0037	0.0020	0.0019	0.0033	0.0031	0.0007	0	0.0028	0.0009	0	0.0006	0.0068	0.0037	0.0014	0.0006	0.149	0.24758	T	0.124	0.35455	T	0.004	0.12183	B	0.002	0.06944	B	0.458360	0.12422	N	0.658159	1	0.08975	N	0.55	0.14455	N	3.24	0.14783	T	-0.47	0.15178	N	0.037	0.01203	-0.9917	0.32167	T	0.018	0.07376	T	10	0.0045835674	0.00095	T	0.003791	0.08837	T	0.037	0.09474	.	.	0.28058544554	0.27657	0.32226341383448587	0.32139	0.136299683777	0.15377	0.319998681545	0.13421	T	0.065093	0.32602	T	-0.538305	0.00343	T	-0.54717	0.17599	T	0.00203285094609773	0.00021	T	0.505249	0.25529	T	0.021743653	0.00794	0.017744385	0.00038	0.021743653	0.00794	0.017744385	0.00038	-3.678	0.19422	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	0.597675	0.09663	6.433	0.97125673577235394	0.32473	0.10443	0.15949	N	AEFDBCI	0.082205	0.16642	N	-1.13940780157747	0.05956	0.2729308	-1.15917522011607	0.06605	0.318468	0.999720587285986	0.42220	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.76	-1.37	0.08582	-0.284000	0.08456	0.410000	0.18100	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.026000	0.12556	0.383:0.0:0.4823:0.1347	5.441	0.15809	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1172.33	37	chr8	22571127	.	G	A	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.526;DP=728;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.344;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,44:71:99:0|1:22571127_G_A:1186,0,682:22571127	18	0	1	0
chr8	25399935	25399935	C	G	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon46:c.C4729G:p.Q1577E	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0059208921435	0.0017	0.000599042	0.0010	0.0003	0.0005	0	0	0.0016	0.0025	0.0005	0.001022	158	154602	rs137938378	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0007	0.0022	0	9.367e-05	0.0003	0.0016	0.0015	0.0003	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0006	0.61	0.05468	T	0.436	0.13480	T	0.013	0.16609	B	0.017	0.18140	B	0.000014	0.62929	N	0.116274	0.996843	0.43455	D	1.805	0.47535	L	3.79	0.03809	T	-0.93	0.24898	N	0.357	0.39861	-1.0420	0.16711	T	0.017	0.06902	T	10	0.012745053	0.00273	T	0.005921	0.15430	T	0.112	0.31546	.	.	0.0986583533028	0.09354	0.22494296244090814	0.22409	0.149559058634	0.16864	0.512403905392	0.40558	T	0.082614	0.36868	T	-0.568644	0.00225	T	-0.595761	0.13170	T	0.0123645188286901	0.00202	T	0.593441	0.21910	T	0.11353909	0.26813	0.158353	0.36984	0.11353909	0.26813	0.158353	0.36983	-3.509	0.16557	T	.	.	0.061	0.01161	B	.	.	2.769413	0.36350	20.2	0.75558948944286453	0.11122	0.87449	0.46992	D	AEFBCI	0.508344	0.53826	D	-0.493233232312582	0.22302	1.189895	-0.311673309310358	0.27721	1.540242	0.995353663552182	0.34082	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.89	4.09	0.47038	1.875000	0.39214	4.853000	0.45395	-0.188000	0.09543	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.7575:0.2425:0.0	16.818	0.85601	540	0.73006	Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	785.33	37	chr8	25399935	.	C	G	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.111;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.279;SOR=0.765	GT:AD:DP:GQ:PL	0/1:24,30:54:99:799,0,660	18	0	1	0
chr8	25503407	25503407	G	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon13:c.G1661T:p.G554V,CDCA2:NM_001317907:exon14:c.G1706T:p.G569V,CDCA2:NM_152562:exon14:c.G1706T:p.G569V	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0239209760035	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010608	164	154602	rs115829566	0.0013	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0001	0.0007	0.0023	0	7.488e-05	0.0003	0.0015	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	0.018	0.50676	D	0.011	0.65728	D	0.996	0.68779	D	0.953	0.69275	D	0.084389	0.20699	N	0.412136	0.999986	0.54805	D	2.255	0.64187	M	0.87	0.46412	T	-3.04	0.63090	D	0.269	0.30461	-0.8378	0.52793	T	0.190	0.54093	T	10	0.016102046	0.00339	T	0.023921	0.46899	T	0.153	0.40148	.	.	0.556658385457	0.55325	0.08010030986755487	0.07945	0.3035614747	0.32679	0.325840890408	0.14305	T	0.05044	0.34946	T	-0.481726	0.00723	T	-0.47091	0.25418	T	0.0465393736958504	0.04882	T	0.70183	0.31167	T	0.11039927	0.26095	0.13097735	0.31461	0.11039927	0.26095	0.13097735	0.31460	-3.749	0.20044	T	.	.	0.182	0.45798	B	.;.	.;.	2.708836	0.35399	19.89	0.99243680601872497	0.56630	0.81924	0.41234	D	AEFBI	0.169871	0.29674	N	0.0364013609481738	0.43519	2.643143	-0.0533678695787086	0.37345	2.185339	0.999957355808383	0.48110	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.55	4.63	0.57175	2.725000	0.46964	3.021000	0.36002	-0.244000	0.07312	0.993000	0.37899	0.999000	0.35428	0.914000	0.44937	0.095:0.0:0.905:0.0	11.262	0.48319	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	999.33	36	chr8	25503407	.	G	T	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=692;ExcessHet=0;FS=0.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.433;SOR=0.567	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1013,0,795	18	0	1	0
chr8	25503517	25503517	A	G	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon13:c.A1771G:p.I591V,CDCA2:NM_001317907:exon14:c.A1816G:p.I606V,CDCA2:NM_152562:exon14:c.A1816G:p.I606V	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00254785560755	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010479	162	154602	rs115998499	0.0014	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0015	0.0015	0.0002	0.0007	0.0022	0	7.491e-05	0.0003	0.0016	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.199721	0.03311	N	1.608800	1	0.08975	N	-1.905	0.00237	N	1.18	0.37746	T	0.47	0.03090	N	0.044	0.05037	-1.0225	0.22899	T	0.033	0.13986	T	10	0.004672885	0.00098	T	0.002548	0.05121	T	0.036	0.09122	.	.	0.289098819767	0.28531	0.02791186251505966	0.02741	0.0397410156229	0.04241	0.27766263485	0.07169	T	0.003703	0.03111	T	-0.692334	0.00041	T	-0.773434	0.02657	T	0.000892670442402889	0.00008	T	0.112789	0.00855	T	0.011843495	0.00023	0.016416432	0.00016	0.011843495	0.00023	0.016416432	0.00016	-2.846	0.08615	T	.	.	0.064	0.01738	B	.;.	.;.	-0.787796	0.01131	0.052	0.17266457202521399	0.00496	0.00125	0.00780	N	AEFBI	0.018605	0.00576	N	-1.49845662335819	0.01861	0.08162723	-1.40798299628093	0.03172	0.1474215	0.989583406317112	0.31872	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.36	1.03	0.19161	-0.237000	0.09007	-0.814000	0.07323	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3794:0.0:0.6206:0.0	9.982	0.40992	907	0.22727	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	867.33	36	chr8	25503517	.	A	G	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.649;DP=688;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.798;SOR=0.373	GT:AD:DP:GQ:PL	0/1:29,38:67:99:881,0,787	18	0	1	0
chr8	25506585	25506585	G	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.G1874C:p.R625P,CDCA2:NM_152562:exon15:c.G1919C:p.R640P	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00327970557933	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010479	162	154602	rs113799371	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0002	0.0007	0.0023	0	7.502e-05	0.0004	0.0015	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.198299	0.16666	N	0.574285	1	0.08975	N	-1.935	0.00224	N	0.88	0.46028	T	1.02	0.01369	N	0.048	0.02964	-0.9796	0.35094	T	0.022	0.09238	T	10	0.00437364	0.00089	T	0.00328	0.07268	T	0.089	0.25827	.	.	0.321108458156	0.31720	0.10603153957989477	0.10533	0.0577496276936	0.06399	0.276592701674	0.07023	T	0.004355	0.03758	T	-0.613774	0.00120	T	-0.660588	0.08227	T	0.00137293360029763	0.00014	T	0.258174	0.04088	T	0.06374824	0.13457	0.0507594	0.08032	0.06374824	0.13456	0.0507594	0.08031	-2.632	0.06750	T	.	.	0.070	0.03736	B	.;.	.;.	0.012034	0.04366	1.122	0.11157384351718043	0.00160	0.00037	0.00318	N	AEFBI	0.016229	0.00353	N	-1.45089322826605	0.02209	0.09730765	-1.31808595172507	0.04197	0.1974325	0.999898120156056	0.45129	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.18	3.36	0.37579	0.027000	0.13512	0.142000	0.15184	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.1712:0.5755:0.165:0.0882	3.780	0.08198	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1613.33	33	chr8	25506585	.	G	C	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=753;ExcessHet=0;FS=15.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=2.13;SOR=0.175	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1627,0,1527	18	0	1	0
chr8	25506803	25506803	T	A	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.T2092A:p.S698T,CDCA2:NM_152562:exon15:c.T2137A:p.S713T	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0182103531013	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010608	164	154602	rs116133624	0.0014	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	0.0007	0.0023	0	7.493e-05	0.0003	0.0016	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	0.275	0.16198	T	0.456	0.13030	T	0.447	0.36006	B	0.286	0.40541	B	0.092861	0.20252	N	0.473510	1	0.08975	N	2.005	0.54552	M	0.72	0.50976	T	-0.18	0.09796	N	0.076	0.10198	-1.0374	0.18109	T	0.096	0.36029	T	10	0.0069467425	0.00158	T	0.01821	0.40197	T	0.017	0.02790	.	.	0.386395597597	0.38251	0.07613499557798312	0.07549	0.150520771333	0.16976	0.249263256788	0.03690	T	0.021333	0.18834	T	-0.583657	0.00183	T	-0.617327	0.11396	T	0.0082965080230518	0.00100	T	0.416058	0.10924	T	0.02735436	0.01916	0.027308138	0.00874	0.02735436	0.01916	0.027308138	0.00874	-3.989	0.23639	T	.	.	0.087	0.15832	B	.;.	.;.	-0.056870	0.03906	0.859	0.28510988334868037	0.01467	0.07715	0.13717	N	AEFBI	0.049847	0.08654	N	-0.853245367179916	0.11971	0.580722	-0.926121156902066	0.11479	0.5850135	0.999831168668589	0.43792	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.94	2.52	0.29514	-0.182000	0.09720	-0.826000	0.07275	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2455:0.0:0.7545	5.620	0.16731	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1421.33	33	chr8	25506803	.	T	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.569;DP=771;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=1.29;SOR=0.593	GT:AD:DP:GQ:PL	0/1:93,61:154:99:1435,0,2638	18	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	253.95	36	chr8	39963621	.	A	G	253.95	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.5;DP=2573;ExcessHet=0.7564;FS=95.1;InbreedingCoeff=-0.1267;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.07;SOR=11.761	GT:AD:DP:GQ:PL	0/1:158,38:196:26:26,0,2941	15	0	4	0
chr8	52940871	52940871	A	T	exonic	NPBWR1	.	nonsynonymous SNV	NPBWR1:NM_005285:exon2:c.A964T:p.I322L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.011672118699	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780421755	6.867e-07	6.84e-07	0	1.381e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	6.578e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.270776	0.03771	N	1.637940	0.989459	0.24293	N	-0.93	0.01295	N	1.61	0.28391	T	0.74	0.02038	N	0.058	0.02964	-1.0022	0.29284	T	0.024	0.10194	T	10	0.045171797	0.03556	T	0.011672	0.29526	T	0.055	0.15663	0.6	0.73105	0.295623431141	0.29171	0.1362472961606659	0.13548	0.36411185379	0.38027	0.371832549572	0.21095	T	0.033811	0.23067	T	-0.339575	0.05417	T	-0.725552	0.04532	T	0.0326358058848119	0.02410	T	0.332267	0.06988	T	0.05189278	0.09598	0.047536805	0.06869	0.05189278	0.09598	0.047536805	0.06869	0.458	0.00222	T	.	.	0.066	0.02257	B	.	.	-0.644649	0.01454	0.088	0.72972195653503236	0.10161	0.34275	0.25029	N	ALL	0.096500	0.19480	N	-1.22331715317553	0.04664	0.2109554	-1.11990525971418	0.07320	0.3556178	0.999998890042965	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.66	0.155	0.14200	-1.107000	0.03427	-2.466000	0.03719	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.250000	0.23263	0.2461:0.3017:0.3588:0.0934	3.260	0.06440	904	0.23766	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	40	chr8	52940871	.	A	T	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.25;DP=773;ExcessHet=0;FS=9.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.164;SOR=1.863	GT:AD:DP:GQ:PL	0/1:52,26:78:99:775,0,1296	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,14:57:24:.:.:24,0,685:.	8	0	10	1
chr8	67190725	67190725	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon24:c.A2246G:p.E749G,CSPP1:NM_001363133:exon26:c.A3020G:p.E1007G,CSPP1:NM_001364870:exon26:c.A3182G:p.E1061G,CSPP1:NM_001363132:exon27:c.A3101G:p.E1034G,CSPP1:NM_024790:exon27:c.A3281G:p.E1094G,CSPP1:NM_001363131:exon28:c.A3215G:p.E1072G,CSPP1:NM_001364869:exon28:c.A3362G:p.E1121G,CSPP1:NM_001382391:exon29:c.A3296G:p.E1099G	Joubert syndrome 21, Autosomal recessive	434	1084	4	0	0	4	0.00184162	.	.	.	502504	CSPP1-related_disorder|Joubert_syndrome_21|not_provided	.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0271566273356	8.2e-05	.	8.282e-05	0.0001	8.646e-05	0	0	5.995e-05	0.0011	0.0002	6.47e-05	10	154602	rs201629827	6.637e-05	6.704e-05	5.719e-05	7.565e-05	0.0050	5.563e-05	5.154e-05	0.0036	0.0031	5.975e-05	4.472e-05	0.0002	0	0	0.0050	2.429e-05	0.0002	0.0002	6.569e-05	6.562e-05	8.998e-05	4.03e-05	7.351e-05	3.516e-05	2.615e-05	2.847e-05	1.858e-05	2.408e-05	0	0	0	0	0	0.0068	7.351e-05	0.0009	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.001001	0.40652	N	0.247806	1	0.81001	D	.	.	.	1.25	0.36691	T	-3.13	0.67129	D	0.538	0.56576	-0.7420	0.58350	T	0.197	0.55158	T	10	0.4321725	0.57562	T	0.027157	0.50001	D	0.168	0.42943	.	.	0.578941962908	0.57563	0.06893876249573339	0.06831	0.5383661566	0.51097	0.472102284431	0.34969	T	.	.	.	-0.0447238	0.45246	T	-0.0993652	0.63446	T	0.402587741613388	0.29039	T	0.882412	0.60854	D	.	.	.	.	.	.	.	.	-8.638	0.65537	D	.	.	0.358	0.57085	A	.;.	.;.	4.161135	0.62489	24.5	0.99915800758215989	0.98379	0.92816	0.56616	D	AEFBI	0.383676	0.46509	N	0.550353576154997	0.70105	5.452706	0.47391925443463	0.66267	4.929872	0.67784392537872	0.22445	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.42	4.42	0.52775	4.360000	0.59229	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	12.026	0.52665	674	0.60593	.;.	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.023392	0.000000	0.000000	0.000000	0.000000	0.02632	1523.33	38	chr8	67190725	.	A	G	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=748;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.308;SOR=0.627	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1537,0,1876	18	0	1	0
chr8	70069703	70069703	A	C	exonic	PRDM14	.	nonsynonymous SNV	PRDM14:NM_024504:exon2:c.T158G:p.F53C	.	399	1120	3	0	0	3	0.00133749	.	.	.	2383653	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0174036131148	0.0005	0.000199681	0.0008	0	0.0017	0	0	0.0012	0.0056	0.0006	0.0003493	54	154602	rs149635847	0.0010	0.0009	0.0009	0.0010	0.0011	0.0009	0.0009	0.0011	0.0011	0.0003	0.0003	0	0	2.048e-05	0.0011	0.0011	0.0008	0.0005	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0003	0	0	0	0.0136	0.0010	0.0014	0.0006	0.003	0.68238	D	0.015	0.61642	D	0.983	0.60381	D	0.533	0.48638	P	0.000902	0.41128	D	0.210963	0.998179	0.22310	N	0.975	0.24501	L	2.64	0.12780	T	-1.38	0.84175	N	0.402	0.44283	-1.0542	0.13251	T	0.027	0.11751	T	10	0.019714803	0.00444	T	0.017404	0.39083	T	0.107	0.30369	.	.	0.123314135267	0.11883	0.5381441680233661	0.53739	1.28454726725	0.82622	0.46971654892	0.34641	T	0.080513	0.45491	T	-0.426197	0.01563	T	-0.435419	0.29321	T	0.043770291911391	0.04379	T	0.612939	0.23352	T	0.18579088	0.39958	0.12224118	0.29487	0.18579088	0.39957	0.12224118	0.29486	-4.407	0.29652	T	.	.	0.629	0.70061	P	.;.	.;.	2.870537	0.37953	20.6	0.84697294962391623	0.15444	0.76951	0.37784	D	AEFDBHCI	0.342259	0.43847	N	-0.182623556782008	0.33857	1.925751	-0.298321408095737	0.28153	1.567502	0.999998074160017	0.74766	0.72623	0.87236	0	0.616487	0.53143	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	2.22	0.27116	3.720000	0.54661	4.477000	0.43519	0.756000	0.94297	0.531000	0.27197	0.901000	0.27973	0.021000	0.11733	0.7294:0.1774:0.0932:0.0	5.785	0.17591	938	0.14419	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1700.33	52	chr8	70069703	.	A	C	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=840;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.584;SOR=0.627	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1714,0,1736	18	0	1	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	926.75	91	chr8	73292778	.	GAACC	G	926.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.787;DP=1565;ExcessHet=0.3672;FS=235.638;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.26;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:73292778_GAACC_G:222,0,3181:73292778	16	0	3	0
chr8	73292780	73292780	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	184.15	82	chr8	73292780	.	A	*	184.15	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:73292778_GAACC_G:222,0,3181:73292778	13	0	3	3
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	185.19	74	chr8	73292781	.	C	*	185.19	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:73292778_GAACC_G:222,0,3181:73292778	10	0	3	6
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1113.09	74	chr8	73292782	.	C	CGGGG	1113.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:73292778_GAACC_G:222,0,3181:73292778	14	0	3	2
chr8	98222544	98222544	T	G	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon5:c.A493C:p.T165P,NIPAL2:NM_001321636:exon5:c.A493C:p.T165P,NIPAL2:NM_024759:exon5:c.A493C:p.T165P	.	430	1065	26	1	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	0.0011	0.0375399	0.0193	0.0012	0.0202	0.2057	0	0.0013	0.0165	0.0132	0.017613	2723	154602	rs77774174	0.0072	0.0072	0.0072	0.0073	0.1687	0.0071	0.0071	0.1653	0.1639	0.0009	0.0173	0.0040	0.1687	5.616e-05	0.0062	0.0008	0.0141	0.0133	0.0094	0.0094	0.0078	0.0110	0.1924	0.0090	0.0088	0.1825	0.1785	0.0011	0	0.0116	0.0066	0.1924	0.0002	0.0068	0.0010	0.0137	0.0170	0.37	0.11586	T	0.186	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.056835	0.22529	N	0.459579	0.795011	0.29181	N	0.915	0.23335	L	-2.69	0.90451	D	-1.12	0.28906	N	0.056	0.02759	-0.3131	0.74617	T	0.553	0.83644	D	10	0.0015859604	0.00018	T	.	.	.	0.420	0.72930	.	.	.	.	0.606460631242737	0.60577	0.198447039188	0.22225	0.412601977587	0.26817	T	0.388325	0.74903	T	-0.351197	0.04652	T	-0.133426	0.60682	T	0.00200710036842292	0.00021	T	0.521748	0.17009	T	0.20699102	0.42892	0.13713561	0.32787	0.20699102	0.42891	0.13713561	0.32786	-6.81	0.52633	T	.	.	0.075	0.10062	B	.;.	.;.	2.022096	0.25697	16.86	0.98626904810657023	0.43852	0.73112	0.35767	D	AEFBI	0.310864	0.41676	N	-0.280823762495684	0.29888	1.66157	-0.137897212033714	0.33877	1.942581	0.443869239457615	0.20476	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.71	3.3	0.36912	0.499000	0.22254	1.994000	0.30091	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1491:0.0802:0.0:0.7707	5.746	0.17388	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1762.33	33	chr8	98222544	.	T	G	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.186;SOR=0.712	GT:AD:DP:GQ:PL	0/1:84,74:158:99:1776,0,2063	18	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.02632	1526.33	33	chr8	103998243	.	G	A	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=757;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-2.822;SOR=0.611	GT:AD:DP:GQ:PL	0/1:67,66:133:99:1540,0,1707	18	0	1	0
chr8	120811608	120811608	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C236T:p.A79V	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0011	0.00199681	0.0039	0.0010	0.0030	0	0.0014	0.0026	0.0082	0.0100	0.0016235	251	154602	rs201940243	0.0013	0.0013	0.0010	0.0016	0.0102	0.0012	0.0012	0.0081	0.0079	0.0001	0.0008	0.0050	0	0.0003	0.0102	0.0007	0.0016	0.0086	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0003	0.0060	0	0.0007	0.0103	0.0013	0.0005	0.0081	0.313	0.13879	T	0.35	0.17478	T	0.012	0.16265	B	0.007	0.12992	B	0.371210	0.04363	N	1.429480	1	0.08975	N	1.04	0.26193	L	1.04	0.40218	T	-0.82	0.22508	N	0.072	0.04547	-1.0331	0.19459	T	0.058	0.24465	T	10	0.0034614503	0.00061	T	.	.	.	0.030	0.07022	.	.	0.318133320967	0.31420	0.45327639487978616	0.45245	.	.	0.705061197281	0.67876	T	0.225548	0.59031	T	-0.551429	0.00286	T	-0.559034	0.16467	T	0.00172025871911033	0.00018	T	0.542346	0.18433	T	0.05869175	0.11837	0.061272908	0.11804	0.05869175	0.11837	0.061272908	0.11804	-5.537	0.42213	T	.	.	0.082	0.08657	B	.;.	.;.	1.968172	0.25002	16.60	0.97215705365773275	0.32878	0.16176	0.19266	N	AEFDBHCIJ	0.082456	0.16697	N	-0.766014321388156	0.14202	0.7055587	-0.683740317296577	0.17367	0.9231392	0.99999886410472	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.94	3.01	0.33872	0.845000	0.27321	1.235000	0.25068	0.583000	0.30283	0.006000	0.17386	0.010000	0.20010	0.794000	0.37478	0.0776:0.138:0.6416:0.1427	5.809	0.17720	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008595	0.000000	0.004110	0.008772	0.000000	0.017241	0.015337	0.011364	0.05263	2322.83	120	chr8	120811608	.	G	A	2322.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.238;DP=848;ExcessHet=0.119;FS=0.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.444;SOR=0.616	GT:AD:DP:GQ:PL	0/1:42,35:77:99:871,0,1070	17	0	2	0
chr8	124553449	124553449	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001363300:exon13:c.T1616C:p.I539T,MTSS1:NM_001363301:exon13:c.T1613C:p.I538T,MTSS1:NM_001363302:exon13:c.T1565C:p.I522T,MTSS1:NM_001282974:exon14:c.T1736C:p.I579T,MTSS1:NM_001363294:exon14:c.T1808C:p.I603T,MTSS1:NM_001363295:exon14:c.T1760C:p.I587T,MTSS1:NM_001363298:exon14:c.T1733C:p.I578T,MTSS1:NM_001363299:exon14:c.T1628C:p.I543T,MTSS1:NM_014751:exon14:c.T1811C:p.I604T,MTSS1:NM_001282971:exon15:c.T1823C:p.I608T,MTSS1:NM_001363296:exon15:c.T1748C:p.I583T,MTSS1:NM_001363297:exon15:c.T1745C:p.I582T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0109698445935	0.0002	0.00159744	0.0006	0.0002	8.652e-05	0	0.0003	0.0005	0	0.0023	0.0005757	89	154602	rs149463159	0.0005	0.0005	0.0005	0.0006	0.0020	0.0005	0.0005	0.0017	0.0016	0.0001	0.0002	0	0.0001	0.0002	0.0014	0.0005	0.0005	0.0020	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	0.0002	0	6.542e-05	0	0.0002	0.0006	0.0034	0.0006	0	0.0046	0.163	0.38185	T	0.381	0.29442	T	0.089	0.40146	B	0.075	0.33328	B	0.012306	0.29218	N	0.376195	0.929815	0.81001	D	1.355	0.33814	L	1.44	0.32722	T	-0.5	0.22078	N	0.154	0.22870	-1.0750	0.08348	T	0.044	0.18865	T	10	0.0065327287	0.00148	T	0.01097	0.28104	T	0.149	0.39377	.	.	0.529432775193	0.52591	0.14609813024330415	0.14531	0.489325189415	0.47699	0.619642496109	0.55679	T	0.275936	0.64849	T	-0.346799	0.04931	T	-0.289943	0.45778	T	0.00748320552429751	0.00086	T	0.968903	0.88824	D	0.048572093	0.08486	0.055888243	0.09886	0.048572093	0.08486	0.055888243	0.09885	-5.555	0.42379	T	.	.	0.179	0.39012	B	.;.;.;.;.	.;.;.;.;.	3.316846	0.45604	22.2	0.93702697147406677	0.23614	0.48485	0.28217	N	AEFDGBCI	0.119677	0.23348	N	-0.528974134801251	0.21147	1.120188	-0.424901408692912	0.24270	1.328046	0.999999987863462	0.74766	0.67177	0.52595	0	0.573116	0.20632	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.9	3.55	0.39770	1.026000	0.29708	7.060000	0.57403	0.756000	0.94297	0.271000	0.25055	1.000000	0.68203	0.354000	0.25750	0.863:0.0:0.137:0.0	9.892	0.40463	892	0.26670	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2050.33	37	chr8	124553449	.	A	G	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.126;DP=821;ExcessHet=0;FS=1.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.759;SOR=0.892	GT:AD:DP:GQ:PL	0/1:92,76:168:99:2064,0,2656	18	0	1	0
chr8	132003281	132003281	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon22:c.A2248G:p.I750V,EFR3A:NM_001323554:exon22:c.A2248G:p.I750V,EFR3A:NM_001323555:exon22:c.A2248G:p.I750V,EFR3A:NM_001323556:exon22:c.A2248G:p.I750V,EFR3A:NM_001323557:exon22:c.A2248G:p.I750V,EFR3A:NM_015137:exon22:c.A2356G:p.I786V,EFR3A:NM_001323558:exon23:c.A2407G:p.I803V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00889147433088	0.0038	0.00239617	0.0045	0.0011	0.0064	0	0.0003	0.0063	0.0088	0.0016	0.0045019	696	154602	rs147579193	0.0060	0.0060	0.0061	0.0059	0.0070	0.0059	0.0058	0.0069	0.0069	0.0009	0.0063	0.0021	2.526e-05	0.0005	0.0061	0.0070	0.0058	0.0017	0.0044	0.0044	0.0043	0.0045	0.0089	0.0041	0.0040	0.0077	0.0072	0.0012	0.0176	0.0089	0.0029	0	0.0002	0.0068	0.0064	0.0062	0.0008	0.388	0.10909	T	0.41	0.14544	T	0.006	0.13644	B	0.024	0.20255	B	0.000001	0.84330	N	0.089876	0.999982	0.54805	D	1.995	0.54099	M	1.53	0.30401	T	-0.3	0.11913	N	0.334	0.37509	-1.0873	0.05995	T	0.051	0.21495	T	10	0.006929666	0.00157	T	0.008891	0.23439	T	0.075	0.21907	.	.	0.215869574891	0.21205	0.31041666110087357	0.30954	0.0537663119061	0.05938	0.534680366516	0.43693	T	0.003596	0.06790	T	-0.527604	0.00397	T	-0.524245	0.19865	T	0.0162182734190474	0.00396	T	0.785921	0.42389	T	0.047587257	0.08158	0.052349526	0.08607	0.047587257	0.08157	0.052349526	0.08606	-2.765	0.07865	T	.	.	0.101	0.32299	B	.;.;.	.;.;.	3.031683	0.40608	21.2	0.95113376504569735	0.26202	0.98256	0.80988	D	AEFGBI	0.546098	0.56034	D	-0.266557777652939	0.30448	1.697848	-0.162233678068028	0.32940	1.879106	0.909109245816487	0.26302	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.08	0.34576	4.355000	0.59199	7.086000	0.57489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8517:0.0:0.1483:0.0	9.118	0.35928	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	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1426.33	34	chr8	132003281	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.462;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.876;SOR=0.665	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1440,0,989	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:94,38:141:99:135,0,1534	4	0	12	3
chr8	134565356	134565356	T	C	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon10:c.A2767G:p.M923V,ZFAT:NM_001167583:exon11:c.A2917G:p.M973V,ZFAT:NM_001174158:exon11:c.A2917G:p.M973V,ZFAT:NM_020863:exon11:c.A2953G:p.M985V,ZFAT:NM_001029939:exon12:c.A2917G:p.M973V,ZFAT:NM_001289394:exon12:c.A2917G:p.M973V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0125427505478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	2.238e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.238e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.50676	D	0.021	0.70582	D	0.988	0.62325	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.991774	0.46766	D	1.58	0.39772	L	1.62	0.28189	T	-1.79	0.49018	N	0.811	0.82660	-0.9684	0.37530	T	0.139	0.45640	T	10	0.77066374	0.77056	D	0.012543	0.31203	T	0.197	0.47942	0.599	0.72984	0.308278614506	0.30437	0.49256777270015256	0.49177	0.464273658315	0.45902	0.688010931015	0.65420	T	0.030371	0.53640	T	0.0460227	0.57831	T	-0.171668	0.57291	T	0.936339437961578	0.60525	D	0.958704	0.85148	D	0.41479653	0.61744	0.3117766	0.57182	0.41479653	0.61744	0.3117766	0.57181	-8.927	0.68472	D	.	.	0.791	0.76874	P	.;.;.;.;.;.	.;.;.;.;.;.	4.541741	0.71401	25.7	0.99573140820814054	0.72501	0.67734	0.33541	D	AEFDGBCI	0.638347	0.61680	D	0.398809821571836	0.61359	4.335771	0.438193975762329	0.63962	4.640895	0.999999999996487	0.74766	0.638212	0.43195	0	0.52208	0.09955	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	5.841000	0.69123	7.764000	0.68349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.235	0.53821	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1340.33	45	chr8	134565356	.	T	C	1340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.704;DP=840;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.08;SOR=0.829	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1354,0,1981	18	0	1	0
chr8	138883163	138883163	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon2:c.C10G:p.L4V	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0238572379187	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0	0.0016	0.0002264	35	154602	rs201768836	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0010	0.0009	0	7.28e-05	0	0	0	0.0017	8.454e-05	0.0003	0.0012	0.0001	0.0001	0.0001	0.0001	0.0006	7.569e-05	6.275e-05	0.0002	8.981e-05	0	0	6.53e-05	0	0.0002	0	0.0034	0.0002	0	0.0006	0.225	0.20912	T	0.095	0.40909	T	0.043	0.21573	B	0.011	0.15521	B	0.347642	0.13865	U	0.535469	1	0.08975	N	1.78	0.46185	L	-2.41	0.88533	D	-0.16	0.11185	N	0.234	0.36674	-0.6754	0.61584	T	0.425	0.76863	T	9	0.01710704	0.00363	T	0.023857	0.46837	T	0.056	0.15993	.	.	0.501183553247	0.49756	0.6089894613853721	0.60830	0.0852053008276	0.09633	0.405758738518	0.25870	T	5.05E-4	0.00188	T	-0.325341	0.06470	T	-0.296454	0.45098	T	0.0184988981434802	0.00566	T	0.521048	0.16963	T	0.04664437	0.07841	0.049727775	0.07660	0.04664437	0.07840	0.049727775	0.07660	-4.267	0.28720	T	.	.	0.084	0.15025	B	.;.	.;.	1.152386	0.15405	11.83	0.95786474441576686	0.27817	0.05061	0.10852	N	AEFDGBI	0.050307	0.08780	N	-0.884629666759599	0.11208	0.5396171	-0.898260262288224	0.12136	0.6224697	0.00155981509668587	0.08639	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	3.6	2.69	0.30923	1.100000	0.30637	3.573000	0.39130	0.618000	0.50648	0.009000	0.18154	0.582000	0.25626	0.019000	0.11356	0.0:0.0:0.7628:0.2371	8.235	0.30780	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	748.33	34	chr8	138883163	.	G	C	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.592;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,38:75:99:762,0,782	18	0	1	0
chr8	143866916	143866916	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6338A:p.G2113E	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0174385144651	7.9e-05	.	4.155e-05	0	8.645e-05	0	0	4.519e-05	0	6.056e-05	3.88e-05	6	154602	rs370476982	5.682e-05	5.678e-05	4.495e-05	6.881e-05	0.0005	4.68e-05	4.304e-05	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	5.756e-05	9.94e-05	5.797e-05	5.256e-05	5.253e-05	3.854e-05	6.724e-05	8.818e-05	2.557e-05	1.83e-05	3.761e-05	2.574e-05	2.413e-05	0	6.542e-05	0	0	0	0	8.818e-05	0	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	0.977528	0.39375	D	2.63	0.76995	M	.	.	.	.	.	.	0.277	0.31365	-0.1742	0.78326	T	0.487	0.80491	T	9	0.279162	0.45488	T	0.017439	0.39139	T	.	.	.	.	0.607054019504	0.60390	0.5599932224476786	0.55926	.	.	0.515493273735	0.40993	T	0.438698	0.78426	T	0.0155995	0.53786	T	-0.0108183	0.69630	D	0.585846424102783	0.35844	D	0.553245	0.19112	T	0.38573444	0.59728	0.32700732	0.58602	0.38573444	0.59728	0.32700732	0.58601	-11.184	0.80658	D	.	.	0.958	0.87827	P	.;.	.;.	3.401085	0.47136	22.4	0.99288330465668151	0.58184	0.97710	0.76577	D	AEFDGBI	0.432974	0.49463	N	0.217877457421226	0.52066	3.383209	0.0787439638717727	0.43481	2.648978	0.999999968885196	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	3.981000	0.56611	.	.	0.549000	0.26987	0.998000	0.41325	0.522000	0.25315	0.008000	0.08271	0.0:1.0:0.0:0.0	14.507	0.67342	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3088.33	34	chr8	143866916	.	C	T	3088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=1047;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.028;SOR=0.806	GT:AD:DP:GQ:PL	0/1:111,111:222:99:3102,0,3133	18	0	1	0
chr8	143921279	143921279	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G8500A:p.D2834N,PLEC:NM_201379:exon32:c.G8476A:p.D2826N,PLEC:NM_201380:exon32:c.G8953A:p.D2985N,PLEC:NM_201381:exon32:c.G8446A:p.D2816N,PLEC:NM_201382:exon32:c.G8542A:p.D2848N,PLEC:NM_201383:exon32:c.G8554A:p.D2852N,PLEC:NM_201384:exon32:c.G8542A:p.D2848N,PLEC:NM_000445:exon33:c.G8623A:p.D2875N	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	982679	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0546814747115	.	.	8.295e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs781793289	2.736e-05	2.805e-05	2.042e-05	3.438e-05	0.0002	2.063e-05	1.816e-05	2.995e-05	2.038e-05	2.987e-05	0	0	0	5.633e-05	0.0002	2.428e-05	3.312e-05	6.956e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.418e-05	0	2.94e-05	0	0	0.045	0.40832	D	0.014	0.63918	D	0.992	0.64738	D	0.496	0.47529	P	0.003285	0.35154	U	0.169650	0.999998	0.58761	D	2.985	0.85602	M	-0.34	0.68474	T	-2.96	0.61865	D	0.492	0.55626	-0.1721	0.78377	T	0.395	0.74815	T	10	0.6173008	0.67779	D	0.054681	0.65950	D	0.297	0.61730	.	.	0.677776582198	0.67504	0.7040207537201142	0.70344	.	.	0.66345000267	0.61903	T	0.381138	0.74352	T	-0.196029	0.21379	T	-0.422504	0.30788	T	0.961527705192566	0.66107	D	0.954405	0.82627	D	0.07833077	0.17832	0.11652331	0.28130	0.07833077	0.17831	0.11652331	0.28129	-11.81	0.83913	D	0.4643694875808856	0.54600	0.332	0.58209	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.335840	0.45945	22.2	0.99128577281525787	0.53195	0.93615	0.58703	D	AEFGBHCI	0.656768	0.62864	D	0.50622176596057	0.67457	5.08419	0.486456651040273	0.67090	5.037948	0.999999999999985	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	5.994000	0.70296	.	.	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:1.0:0.0:0.0	18.216	0.89821	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7155.33	61	chr8	143921279	.	C	T	7155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=2757;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-1.308;QD=14.81;ReadPosRankSum=0.47;SOR=0.515	GT:AD:DP:GQ:PL	0/1:223,260:483:99:7169,0,5230	18	0	1	0
chr8	143922514	143922514	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.A7373G:p.K2458R,PLEC:NM_201379:exon31:c.A7349G:p.K2450R,PLEC:NM_201380:exon31:c.A7826G:p.K2609R,PLEC:NM_201381:exon31:c.A7319G:p.K2440R,PLEC:NM_201382:exon31:c.A7415G:p.K2472R,PLEC:NM_201383:exon31:c.A7427G:p.K2476R,PLEC:NM_201384:exon31:c.A7415G:p.K2472R,PLEC:NM_000445:exon32:c.A7496G:p.K2499R	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0493129535101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.365e-06	1.379e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.159	0.33109	T	0.946	0.53363	P	0.592	0.50503	P	0.003834	0.34438	U	0.176959	0.998421	0.44899	D	1.975	0.53506	M	-1.09	0.77593	T	-1.14	0.31375	N	0.169	0.18920	-0.0927	0.80266	T	0.427	0.77002	T	10	0.23268661	0.40270	T	0.049313	0.63758	D	0.329	0.65126	0.097	0.01334	0.740021457403	0.73769	0.3176020563790007	0.31673	.	.	0.459423243999	0.33230	T	0.138042	0.47131	T	-0.0548112	0.43714	T	-0.316509	0.42956	T	0.640177318604145	0.38045	D	0.914109	0.69400	D	0.09714688	0.22895	0.14641352	0.34688	0.09714688	0.22895	0.14641352	0.34687	-3.336	0.14576	T	0.25142731838027177	0.34024	0.100	0.17103	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.039069	0.83855	28.2	0.9631034552559643	0.29380	0.96019	0.67166	D	AEFDGBHCI	0.514033	0.54158	D	0.338707738580736	0.58145	3.985256	0.324925877330598	0.57008	3.865282	0.999999999999201	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	3.311000	0.51629	.	.	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.0:1.0	13.487	0.60826	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2370.33	54	chr8	143922514	.	T	C	2370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=1442;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.056;SOR=0.731	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2384,0,2863	18	0	1	0
chr9	20414298	20414300	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.537_539del:p.S187del,MLLT3:NM_004529:exon5:c.546_548del:p.S190del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295395217	0	7.527e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.6e-06	1.974e-05	0	1.351e-05	2.424e-05	0	0	.	.	2.424e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1433.29	34	chr9	20414297	.	GCTA	G	1433.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.378;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=0.857;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,39:77:99:0|1:20414297_GCTA_G:1447,0,1364:20414297	18	0	1	0
chr9	27202942	27202942	G	A	exonic	TEK	.	nonsynonymous SNV	TEK:NM_001290078:exon11:c.G1591A:p.G531S,TEK:NM_001290077:exon12:c.G1903A:p.G635S,TEK:NM_001375476:exon12:c.G1903A:p.G635S,TEK:NM_000459:exon13:c.G2032A:p.G678S,TEK:NM_001375475:exon13:c.G2032A:p.G678S	Glaucoma 3, primary congenital, E, Autosomal dominant;Venous malformations, multiple cutaneous and mucosal, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	3612853	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0177682390863	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs758802336	1.847e-05	1.847e-05	1.77e-05	1.925e-05	0.0002	1.265e-05	1.084e-05	1.46e-05	1.227e-05	0	2.236e-05	0	2.52e-05	0	0.0002	2.158e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.042	0.41637	D	0.33	0.22084	T	1.0	0.90584	D	1.0	0.97372	D	0.000074	0.52346	D	0.000000	0.999752	0.48800	D	1.7	0.43825	L	2.33	0.16492	T	-3.51	0.70191	D	0.568	0.59138	-1.1199	0.02338	T	0.081	0.32031	T	10	0.55407274	0.64418	D	0.017768	0.39598	T	0.225	0.52323	0.6	0.73105	0.422872527889	0.41901	0.5443207386298146	0.54358	0.797753573997	0.66110	0.55578494072	0.46673	T	0.373262	0.73729	T	-0.173342	0.24729	T	-0.403905	0.32930	T	0.871051013469696	0.52094	D	0.911109	0.68490	D	0.54989785	0.69950	0.4718436	0.69379	0.54989785	0.69951	0.4718436	0.69380	-5.036	0.39506	T	0.13895065965298067	0.15419	0.144	0.33016	B	.;.;.	.;.;.	3.998104	0.58894	24.0	0.99885002914130105	0.96049	0.92588	0.56065	D	AEFBI	0.681045	0.64453	D	0.611289197010518	0.73886	6.040222	0.64961436918038	0.78580	6.905321	0.999992525722032	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.479000	0.66538	8.619000	0.77803	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.726	0.96157	746	0.52331	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	154	chr9	27202942	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=1718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.476;SOR=0.669	GT:AD:DP:GQ:PL	0/1:113,80:193:99:2189,0,3012	18	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.07895	6278.77	33	chr9	35295883	.	C	A	6278.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.726;DP=921;ExcessHet=0;FS=8.627;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=0.235;SOR=0.357	GT:AD:DP:GQ:PL	1/1:0,119:119:99:4060,357,0	17	1	1	0
chr9	35713244	35713244	T	C	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon26:c.A3304G:p.I1102V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00604836745635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.907e-07	2.052e-06	1.368e-06	0	2.246e-05	0	0	.	.	0	2.246e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.18691	T	0.224	0.25591	T	0.001	0.07471	B	0.005	0.11217	B	0.000008	0.62929	D	0.147474	1	0.81001	D	1.445	0.36358	L	2.61	0.13095	T	-0.21	0.10308	N	0.265	0.30004	-1.0755	0.08246	T	0.027	0.11751	T	10	0.13823989	0.26293	T	0.006048	0.15816	T	0.112	0.31546	0.339	0.32979	0.288221626996	0.28429	0.12830227685050824	0.12755	0.432362513328	0.43413	0.56177765131	0.47519	T	0.374697	0.73845	T	-0.160341	0.26706	T	-0.468095	0.25720	T	0.751996755599976	0.43396	D	0.904909	0.66542	D	0.10127683	0.23923	0.077373	0.17230	0.10127683	0.23922	0.077373	0.17229	-2.503	0.05801	T	.	.	0.088	0.11797	B	.	.	2.744005	0.35953	20.1	0.99592834280704023	0.73690	0.98701	0.85758	D	AEFDBI	0.811830	0.73471	D	-0.115897516205759	0.36701	2.124916	0.120296253728527	0.45588	2.819321	0.999999999989559	0.74766	0.744818	0.98587	0	0.698795	0.70079	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.187000	0.71962	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.365	0.83146	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4175.81	44	chr9	35713244	.	T	C	4175.81	.	AC=2;AF=0.053;AN=38;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.41;SOR=1.282	GT:AD:DP:GQ:PL	1/1:0,147:147:99:4203,440,0	18	1	0	0
chr9	39359320	39359320	A	C	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A1555C:p.K519Q	.	469	1052	0	1	0	2	0.000949668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000771916223573	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs2572614	0.0017	0.0057	0.0016	0.0019	0.0146	0.0016	0.0016	0.0136	0.0132	0.0009	0.0098	0.0004	0.0146	0.0027	0.0005	0.0007	0.0016	0.0056	0.0005	0.0034	0.0004	0.0006	0.0043	0.0004	0.0004	0.0028	0.0023	0.0004	0.0011	0.0009	0.0003	0.0043	0.0002	0	0.0003	0.0015	0.0007	.	.	.	0.142	0.33330	T	.	.	.	.	.	.	0.341417	0.04190	N	1.381230	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.03283	-0.9962	0.30974	T	0.015	0.05801	T	10	0.044816375	0.03482	T	7.72E-4	0.00568	T	0.036	0.09122	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.282098	0.10446	T	-0.64299	0.09452	T	0.143511976695341	0.16573	T	0.282272	0.04954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203645	0.05883	2.321	0.34063589009220707	0.02064	0.01302	0.04521	N	AEFI	0.028358	0.02483	N	-0.85383629983388	0.11956	0.5799453	-0.953530573822663	0.10841	0.5486533	6.24378858652521E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.19	2.19	0.26890	0.453000	0.21523	-1.283000	0.05821	-0.139000	0.12461	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	6.467	0.21188	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	166.35	39	chr9	39359320	.	A	C	166.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.792;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=0.2626;MLEAC=1;MLEAF=0.026;MQ=33.11;MQRankSum=1.47;QD=23.76;ReadPosRankSum=-1.465;SOR=2.584	GT:AD:DP:GQ:PL	0/1:1,6:7:7:180,0,7	18	0	1	0
chr9	67900907	67900907	C	T	exonic	ANKRD20A1	.	stopgain	ANKRD20A1:NM_032250:exon15:c.C1912T:p.R638X	.	566	897	59	0	0	59	0.0318403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00439297	0.0065	0.0004	0.0028	0	0	0.0042	0.0023	0.0273	0.00146	38	26028	rs143310784	0.0043	0.0045	0.0034	0.0051	0.0280	0.0042	0.0041	0.0271	0.0267	0.0005	0.0020	0.0134	7.576e-05	3.747e-05	0.0213	0.0027	0.0053	0.0280	0.0027	0.0030	0.0022	0.0031	0.0249	0.0024	0.0024	0.0212	0.0198	0.0004	0	0.0017	0.0110	0	0	0.0034	0.0028	0.0058	0.0249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.432614	0.68750	25.3	.	.	.	.	.	.	0.119214	0.23277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754000	0.26056	-0.962000	0.06776	-3.177000	0.00113	0.992000	0.37556	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	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	.	.	.	.	.	.	.	.	0.05263	3712.81	33	chr9	67900907	.	C	T	3712.81	.	AC=2;AF=0.053;AN=38;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=35.51;QD=28.13;SOR=1.078	GT:AD:DP:GQ:PL	1/1:0,132:132:99:3740,396,0	18	1	0	0
chr9	81991059	81991059	C	G	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C589G:p.P197A	.	.	.	.	.	.	.	.	.	.	.	2193823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.000995875327987	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	0.0001153	3	26028	rs775216019	6.158e-06	6.156e-06	8.169e-06	4.126e-06	8.945e-05	2.9e-06	2.1e-06	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	3.598e-06	1.657e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.698	0.04200	T	0.14	0.33554	T	0.003	0.11197	B	0.003	0.08700	B	0.945734	0.07623	N	1.032410	1	0.08975	N	1.39	0.34934	L	2.88	0.10291	T	-1.53	0.37178	N	0.111	0.09772	-0.9454	0.41748	T	0.019	0.07893	T	10	0.04716009	0.03998	T	9.96E-4	0.01050	T	0.021	0.04004	0.257	0.19845	0.0138822411134	0.00435	0.04483493528564004	0.04427	.	.	0.292418837547	0.09275	T	0.024736	0.18634	T	-0.508571	0.00511	T	-0.742601	0.03782	T	0.0305684465003963	0.02079	T	0.282772	0.04965	T	0.030672329	0.02772	0.03395353	0.02377	0.030672329	0.02771	0.03395353	0.02377	-4.099	0.25275	T	.	.	0.072	0.04356	B	.	.	-0.085613	0.03728	0.768	0.09912833951863928	0.00112	0.00262	0.01432	N	AEFI	0.019087	0.00632	N	-1.46023946433773	0.02138	0.09406219	-1.60565831204756	0.01621	0.07356434	0.0028925672524408	0.09781	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.0	-6.0	0.02021	0.538000	0.22869	-8.131000	0.01023	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.188:0.5673:0.2448	7.223	0.25177	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	11371.8	33	chr9	81991059	.	C	G	11371.8	.	AC=2;AF=0.053;AN=38;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.86;QD=31.41;SOR=0.785	GT:AD:DP:GQ:PL	1/1:0,362:362:99:11399,1086,0	18	1	0	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:184,132:325:99:730,0,3217	1	0	18	0
chr9	93010369	93010369	C	T	exonic	FGD3	.	nonsynonymous SNV	FGD3:NM_001083536:exon7:c.C961T:p.R321W,FGD3:NM_001286993:exon7:c.C961T:p.R321W,FGD3:NM_001369951:exon7:c.C961T:p.R321W,FGD3:NM_001369952:exon7:c.C961T:p.R321W,FGD3:NM_033086:exon7:c.C961T:p.R321W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0156027726489	0.0008	0.000798722	0.0015	0.0007	9.266e-05	0	0.0015	0.0024	0.0025	0	0.0013389	207	154602	rs113145792	0.0015	0.0015	0.0015	0.0014	0.0014	0.0014	0.0014	0.0013	0.0013	0.0004	0.0007	0.0126	0	0.0019	0.0012	0.0014	0.0018	3.486e-05	0.0015	0.0015	0.0015	0.0015	0.0018	0.0013	0.0013	0.0016	0.0015	0.0004	0	0.0007	0.0153	0	0.0015	0.0034	0.0018	0.0033	0	0.326	0.13306	T	0.303	0.20164	T	0.03	0.20002	B	0.032	0.22131	B	0.541991	0.11526	N	0.705350	0.869005	0.35527	D	1.905	0.50856	L	1.44	0.32722	T	-1.15	0.29525	N	0.379	0.42050	-1.0582	0.12209	T	0.055	0.23224	T	10	0.007978857	0.00181	T	0.015603	0.36422	T	0.054	0.15330	.	.	0.200317383148	0.19677	0.611472957282554	0.61079	0.307934261036	0.33093	0.273233026266	0.06566	T	0.124378	0.44936	T	-0.512	0.00489	T	-0.509702	0.21346	T	0.00700126968233767	0.00080	T	0.830517	0.49623	T	0.061298598	0.12678	0.048829027	0.07336	0.061298598	0.12678	0.048829027	0.07335	-7.714	0.59292	D	.	.	0.073	0.06250	B	.;.;.;.	.;.;.;.	2.093743	0.26636	17.19	0.489999968765918	0.04136	0.52683	0.29190	D	AEFDBI	0.299346	0.40842	N	-0.811276979205441	0.13022	0.6386459	-0.875108079456262	0.12685	0.6539621	0.999583295706255	0.40607	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.29	-3.65	0.04212	0.031000	0.13598	-0.437000	0.09184	0.581000	0.30040	0.855000	0.30528	0.031000	0.21272	0.087000	0.17632	0.3161:0.3109:0.0:0.373	4.286	0.10301	970	0.06235	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.005051	0.000000	0.000000	0.050000	0.000000	0.000000	0.003788	0.05263	1537.81	33	chr9	93010369	.	C	T	1537.81	.	AC=2;AF=0.053;AN=38;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.76;SOR=1.157	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1565,150,0	18	1	0	0
chr9	110471412	110471412	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon16:c.G2950C:p.A984P	.	.	.	.	.	.	.	.	.	.	.	2444482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.488	0.0449983039542	.	.	0.0001	0	0	0	0	7.515e-05	0	0.0005	8.41e-05	13	154602	rs368929962	8.073e-05	8.209e-05	5.445e-05	0.0001	0.0008	6.868e-05	6.421e-05	0.0006	0.0006	2.987e-05	0	0	0	0	0	4.047e-05	4.969e-05	0.0008	7.225e-05	7.219e-05	6.426e-05	8.06e-05	0.0004	3.97e-05	3.126e-05	7.299e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.167	0.23095	T	0.0	0.92824	D	0.451	0.36091	B	0.086	0.29521	B	0.000000	0.84330	D	0.047830	0.996832	0.45816	D	1.975	0.53506	M	-0.99	0.75911	T	-1.95	0.45222	N	0.802	0.79792	-0.2135	0.77322	T	0.508	0.81474	D	10	0.49762386	0.61360	T	0.044998	0.61764	D	0.488	0.77592	0.549	0.66436	0.501033390876	0.49739	0.5504802606955975	0.54974	0.550379459692	0.51906	0.535266697407	0.43777	T	0.013277	0.11513	T	-0.000729411	0.51554	T	0.137021	0.79351	D	0.312132686376572	0.25501	T	0.849815	0.53298	T	0.47351614	0.65506	0.5186475	0.72189	0.47351614	0.65507	0.5186475	0.72189	-5.854	0.45042	T	.	.	0.228	0.46013	B	.;.	.;.	2.865103	0.37866	20.6	0.99030821896067855	0.50786	0.96547	0.69686	D	AEFDI	0.884227	0.81374	D	0.288658248707474	0.55571	3.721368	0.374876178883585	0.60018	4.185162	0.99340976671182	0.33202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	4.539000	0.60368	3.313000	0.37480	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:1.0:0.0:0.0	19.377	0.94507	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4398.81	33	chr9	110471412	.	C	G	4398.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.65;SOR=1.076	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4426,417,0	18	1	0	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,24:154:99:.:.:199,0,4360:.	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,24:154:99:.:.:199,0,4360:.	8	0	10	1
chr9	120437361	120437361	C	T	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon22:c.G3199A:p.G1067S,CDK5RAP2:NM_001011649:exon25:c.G3889A:p.G1297S,CDK5RAP2:NM_018249:exon25:c.G3889A:p.G1297S	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0115022696225	.	.	8.283e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs551032342	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	1.97e-05	1.969e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	0	0	0.0002	0.358	0.13131	T	0.177	0.58089	T	0.874	0.65571	P	0.163	0.60107	B	0.000006	0.62929	D	0.000000	0.593323	0.32475	D	0.935	0.23595	L	4.09	0.20122	T	-2.9	0.67477	D	0.247	0.27910	-0.9146	0.46272	T	0.082	0.32237	T	10	0.11935738	0.22584	T	0.011502	0.29187	T	0.076	0.22200	0.296	0.26041	0.339074221408	0.33521	0.11122540916704163	0.11051	0.0755267479925	0.08473	0.328023433685	0.14636	T	0.180324	0.53162	T	-0.229031	0.16777	T	-0.566763	0.15746	T	0.260858476161957	0.23352	T	0.873613	0.59262	D	0.22394043	0.45026	0.24253348	0.49675	0.22394043	0.45026	0.24253348	0.49674	-7.098	0.60927	T	.	.	0.172	0.37690	B	.;.;.;.;.	.;.;.;.;.	3.429578	0.47660	22.5	0.97081820627703497	0.32285	0.91476	0.53611	D	AEFDBHCIJ	0.224628	0.34883	N	0.222304362672035	0.52281	3.403278	0.312083195843835	0.56248	3.788004	0.999999981353668	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.97	0.65419	1.238000	0.32310	4.906000	0.45906	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.963000	0.52385	0.0:0.8634:0.0:0.1366	11.632	0.50440	869	0.31655	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	4780.81	33	chr9	120437361	.	C	T	4780.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.3;SOR=1.141	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4808,444,0	18	1	0	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,47:323:99:0|1:122724732_T_C:1078,0,11364:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,42:314:99:0|1:122724732_T_C:945,0,11244:122724732	4	0	12	3
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	420	1061	38	3	0	44	0.0203139	.	.	.	370324	not_provided|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	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	0.013198	0.010526	0.009511	0.005848	0.000000	0.017241	0.009317	0.038168	0.07895	2752.77	34	chr9	128332174	.	G	A	2752.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.328;DP=692;ExcessHet=0;FS=2.045;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.73;ReadPosRankSum=-0.718;SOR=0.679	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2208,225,0	17	1	1	0
chr9	129059238	129059238	A	G	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_001329990:exon7:c.A760G:p.T254A,MIGA2:NM_032809:exon7:c.A952G:p.T318A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0113105803181	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs552558002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.06	0.45744	T	0.033	0.20350	B	0.078	0.28627	B	0.013822	0.28718	N	0.369390	0.816212	0.28940	N	.	.	.	1.9	0.23486	T	-0.91	0.24460	N	0.188	0.20528	-1.0645	0.10666	T	0.052	0.21960	T	10	0.1416643	0.26915	T	0.011311	0.28804	T	0.035	0.08770	0.352	0.35084	0.339074221408	0.33521	0.20394227259470774	0.20311	0.320424184803	0.34251	0.410946667194	0.26588	T	0.010234	0.09261	T	-0.1701	0.25219	T	-0.482114	0.24221	T	0.306089580059052	0.25254	T	0.80202	0.44827	T	0.054230247	0.10375	0.06997454	0.14811	0.054230247	0.10375	0.06997454	0.14810	-3.382	0.14815	T	.	.	0.072	0.04080	B	.	.	2.250209	0.28740	17.90	0.97420533578496404	0.33870	0.91357	0.53370	D	AEFDGBI	0.227910	0.35165	N	-0.208416147044962	0.32787	1.853057	-0.149872086519465	0.33414	1.911059	0.999998189264326	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.13	3.95	0.44952	2.498000	0.45023	3.290000	0.37298	0.691000	0.84096	0.983000	0.35670	0.984000	0.30665	0.306000	0.24642	0.6985:0.1441:0.0:0.1574	6.907	0.23493	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2475.81	34	chr9	129059238	.	A	G	2475.81	.	AC=2;AF=0.053;AN=38;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.19;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2503,246,0	18	1	0	0
chr9	133636634	133636634	G	C	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon1:c.G263C:p.G88A	Dopamine beta-hydroxylase deficiency, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	317586	DBH-related_disorder|not_provided|Orthostatic_hypotension_1	.|MedGen:C3661900|MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.934	0.351909165419	0.0028	0.000998403	0.0035	0.0014	0.0030	0	0.0015	0.0051	0.0067	0.0013	0.0034799	538	154602	rs3025380	0.0040	0.0040	0.0041	0.0040	0.0080	0.0040	0.0039	0.0061	0.0055	0.0010	0.0024	0.0152	0	0.0014	0.0080	0.0043	0.0050	0.0016	0.0034	0.0034	0.0037	0.0030	0.0050	0.0031	0.0030	0.0046	0.0044	0.0009	0	0.0041	0.0124	0	0.0016	0.0034	0.0050	0.0033	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.16	0.88528	M	-2.95	0.91903	D	-4.85	0.81107	D	0.975	0.98563	1.024	0.97612	D	0.902	0.96741	D	10	0.025107235	0.00716	T	0.351909	0.92290	D	0.934	0.98489	.	.	0.877949692981	0.87676	0.9589649888800273	0.95882	0.377804824758	0.39210	0.603336751461	0.53374	T	0.974329	0.99740	D	0.145968	0.68889	D	0.447928	0.93525	D	0.0252718468947385	0.01308	T	0.911409	0.77272	D	0.90667933	0.91987	0.8593092	0.92132	0.9263939	0.93878	0.87608695	0.93289	-8.913	0.67135	D	0.7378679835239934	0.81985	0.576	0.73202	P	.;.	.;.	4.539637	0.71347	25.7	0.99816867889926597	0.89973	0.97617	0.75933	D	AEFDBCI	0.963699	0.98566	D	0.896269077364951	0.91575	10.95371	0.806322266880859	0.90229	10.31337	0.999999999989607	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	9.444000	0.96751	11.581000	0.93342	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.283000	0.24091	0.0:0.0:1.0:0.0	18.826	0.92088	850	0.35610	DOMON domain|DOMON domain|DOMON 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	0.010070	0.000000	0.014946	0.008772	0.000000	0.008621	0.009146	0.007576	0.02632	1183.33	34	chr9	133636634	.	G	C	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=780;ExcessHet=0;FS=3.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.561;SOR=0.994	GT:AD:DP:GQ:PL	0/1:89,55:144:99:1197,0,2461	18	0	1	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M,SOHLH1:NM_001101677:exon7:c.C916A:p.L306M	.	418	1076	28	0	0	28	0.012844	.	.	.	700885	not_specified|not_provided|SOHLH1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	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	0.005040	0.000000	0.005450	0.002924	0.000000	0.000000	0.003067	0.007576	0.02632	890.33	145	chr9	135694417	.	G	T	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.177;DP=1919;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.744;SOR=0.789	GT:AD:DP:GQ:PL	0/1:66,41:107:99:904,0,1731	18	0	1	0
chr9	137214866	137214866	A	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon7:c.A811T:p.I271F,NDOR1:NM_001144026:exon8:c.A913T:p.I305F,NDOR1:NM_001144028:exon8:c.A913T:p.I305F,NDOR1:NM_014434:exon8:c.A913T:p.I305F	.	415	1093	14	0	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.806294940511	0.0005	0.00119808	0.0012	0.0001	0.0004	0	0	0.0006	0	0.0056	0.0009638	149	154602	rs144580113	0.0007	0.0007	0.0005	0.0009	0.0066	0.0007	0.0007	0.0061	0.0059	0.0001	0.0002	0	0	2.002e-05	0.0028	0.0004	0.0006	0.0066	0.0006	0.0006	0.0005	0.0008	0.0083	0.0005	0.0005	0.0063	0.0055	0.0001	0	0.0003	0	0	0	0	0.0006	0.0005	0.0083	0.127	0.28772	T	0.143	0.35330	T	0.343	0.33512	B	0.317	0.47059	B	0.000219	0.47681	D	0.182021	0.999292	0.46578	D	2.54	0.74080	M	-2.1	0.86146	D	-2.81	0.59389	D	0.853	0.86941	-0.0433	0.81348	T	0.614	0.86347	D	10	0.08978066	0.15582	T	0.806295	0.98488	D	0.656	0.87085	.	.	0.853249613613	0.85183	0.7781688093615933	0.77766	0.543113386771	0.51396	0.585572302341	0.50871	T	0.115182	0.43357	T	-0.13617	0.30501	T	0.0332671	0.72489	D	0.0575175356298926	0.06771	T	0.929907	0.75876	D	0.11483601	0.27106	0.13076979	0.31416	0.11483601	0.27106	0.13076979	0.31415	-12.044	0.85655	D	.	.	0.391	0.63057	A	.;.;.;.	.;.;.;.	2.844215	0.37536	20.5	0.98270654102088928	0.39759	0.88374	0.48272	D	AEFDGBI	0.333330	0.43246	N	-0.0484498208426856	0.39671	2.34331	-0.0493498762302128	0.37519	2.197836	0.999950727499491	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.3	1.91	0.24841	1.666000	0.37076	0.431000	0.18324	0.751000	0.87719	0.987000	0.36337	0.001000	0.17328	0.587000	0.31065	0.6469:0.1683:0.1848:0.0	4.419	0.10897	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|FAD-binding domain, ferredoxin reductase-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	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2006.33	45	chr9	137214866	.	A	T	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=929;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.917;SOR=0.712	GT:AD:DP:GQ:PL	0/1:103,77:180:99:2020,0,2679	18	0	1	0
chr10	17776041	17776041	A	C	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon3:c.A343C:p.I115L	.	438	1080	0	1	3	5	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00130043597924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs574844694	9.579e-06	9.577e-06	6.808e-06	1.238e-05	0.0019	5.56e-06	4.35e-06	0.0011	0.0008	0	0	0	0	0	0.0019	8.994e-07	1.657e-05	1.159e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.415	0.09989	T	0.108	0.37589	T	0.048	0.22112	B	0.036	0.22909	B	0.713497	0.09994	N	0.828175	1	0.08975	N	.	.	.	.	.	.	-0.73	0.20576	N	0.168	0.17828	-0.9831	0.34281	T	0.112	0.40029	T	9	0.0474101	0.04056	T	0.001	0.01809	T	0.011	0.01250	0.134	0.03833	0.0138822411134	0.00435	0.24371627008887523	0.24285	.	.	0.338200747967	0.16169	T	0.00977	0.08869	T	-0.237875	0.15622	T	-0.579468	0.14592	T	0.0514616258442402	0.05755	T	0.524448	0.17180	T	0.03160787	0.03031	0.043284707	0.05349	0.03160787	0.03031	0.043284707	0.05349	-2.85	0.08653	T	.	.	0.097	0.15921	B	.	.	-0.406962	0.02186	0.216	0.85853426556199253	0.16153	0.02522	0.07026	N	AEFI	0.049971	0.08687	N	-0.90320762287482	0.10766	0.5161344	-0.966883243894749	0.10534	0.5311532	1.11055226076517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	-0.36	0.11943	0.066000	0.14358	-1.301000	0.05774	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.370000	0.26111	0.4439:0.0:0.5561:0.0	8.038	0.29665	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	916.33	33	chr10	17776041	.	A	C	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.035;DP=719;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.335;SOR=0.532	GT:AD:DP:GQ:PL	0/1:35,40:75:99:930,0,789	18	0	1	0
chr10	25024235	25024235	T	C	exonic	THNSL1	.	nonsynonymous SNV	THNSL1:NM_024838:exon3:c.T1012C:p.F338L	.	.	.	.	.	.	.	.	.	.	.	2304223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.00675412939819	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs770714996	4.788e-06	4.788e-06	6.806e-06	2.75e-06	0.0002	1.99e-06	1.28e-06	6.511e-05	4.449e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.078	0.42261	T	0.924	0.51285	P	0.604	0.50922	P	0.000018	0.62929	D	0.119442	0.999948	0.51968	D	2.27	0.64531	M	2.8	0.11082	T	-3.56	0.68880	D	0.489	0.55366	-1.1776	0.00406	T	0.052	0.22076	T	10	0.4779053	0.60255	T	0.006754	0.17840	T	0.264	0.57741	0.62	0.75461	0.514299272149	0.51072	0.6418009753362701	0.64115	0.225655045092	0.25111	0.739832162857	0.72948	T	0.052241	0.29105	T	-0.250113	0.14085	T	-0.332618	0.41176	T	0.624580791318386	0.37394	D	0.859314	0.55085	D	0.5550351	0.70235	0.5598365	0.74534	0.5550351	0.70236	0.5598365	0.74534	-7.06	0.54471	T	.	.	0.937	0.85861	P	.;.	.;.	4.494762	0.70240	25.5	0.99807238755474526	0.89174	0.98274	0.81158	D	AEFBI	0.932137	0.92203	D	0.633778079950088	0.75322	6.285597	0.668267281529335	0.79976	7.197907	0.999999999758416	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.71	5.71	0.89031	7.673000	0.82956	7.921000	0.74526	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	15.989	0.79982	667	0.61242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2297.33	33	chr10	25024235	.	T	C	2297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.884;DP=2123;ExcessHet=0;FS=4.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=1.71;SOR=1.076	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2311,0,2028	18	0	1	0
chr10	26193228	26193228	A	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon32:c.A4462G:p.K1488E	Deafness, autosomal recessive 30, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	54980	not_specified|MYO3A-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_30	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0091853	0.0038	0.0004	0.0005	0.0468	0	0.0001	0.0078	0.0022	0.0035769	553	154602	rs34204285	0.0014	0.0014	0.0014	0.0014	0.0371	0.0013	0.0013	0.0355	0.0349	0.0001	0.0005	0.0004	0.0371	3.744e-05	0.0009	0.0001	0.0035	0.0020	0.0019	0.0019	0.0015	0.0022	0.0443	0.0017	0.0016	0.0396	0.0378	0.0002	0	0.0003	0.0006	0.0443	0	0	0.0002	0.0024	0.0040	0.016	0.51853	D	0.642	0.06925	T	0.172	0.28767	B	0.039	0.23607	B	0.001712	0.38216	N	0.205205	1	0.81001	D	2.3	0.65703	M	-1.24	0.78967	T	-0.7	0.19933	N	0.427	0.46649	-0.6949	0.60680	T	0.113	0.40238	T	10	0.0026059747	0.00040	T	.	.	.	0.330	0.65226	.	.	0.724707331122	0.72227	0.2257854881004078	0.22493	0.135218752147	0.15242	0.435636490583	0.29980	T	0.078743	0.35965	T	-0.343265	0.05165	T	-0.228608	0.51907	T	0.0235568176883694	0.01090	T	0.690631	0.30012	T	0.1803263	0.39148	0.20350984	0.44430	0.18216106	0.39422	0.24180095	0.49584	-3.354	0.14444	T	.	.	0.104	0.18950	B	.;.	.;.	3.350417	0.46210	22.3	0.99669763922141774	0.78523	0.92801	0.56579	D	AEI	0.372875	0.45835	N	0.0820892895582391	0.45629	2.816178	0.240005398609992	0.52082	3.385608	0.00328900672472646	0.10034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	3.729000	0.54724	9.245000	0.79449	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.994000	0.71098	0.8461:0.1539:0.0:0.0	11.130	0.47566	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	2461.83	33	chr10	26193228	.	A	G	2461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.722;DP=755;ExcessHet=0.119;FS=1.243;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.06;SOR=0.596	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1138,0,898	17	0	2	0
chr10	26193250	26193250	G	A	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon32:c.G4484A:p.R1495Q	Deafness, autosomal recessive 30, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	1935488	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.479	0.113754412111	.	0.000599042	4.161e-05	0	0	0.0006	0	0	0	0	7.12e-05	11	154602	rs200079299	2.531e-05	2.599e-05	2.314e-05	2.75e-05	0.0006	1.868e-05	1.631e-05	0.0004	0.0004	0	0	0	0.0006	0	0	8.094e-06	4.967e-05	1.159e-05	6.58e-05	6.565e-05	3.861e-05	9.426e-05	0.0017	3.521e-05	2.62e-05	0.0009	0.0007	2.413e-05	0	0	0	0.0017	0	0	0	0	0	0.006	0.61437	D	0.344	0.17804	T	1.0	0.90584	D	0.994	0.82059	D	0.000037	0.55875	D	0.123352	0.98694	0.81001	D	2.535	0.73915	M	-1.72	0.83241	D	-1.4	0.34596	N	0.522	0.55193	0.299	0.87551	D	0.600	0.85740	D	10	0.11554712	0.21771	T	0.113754	0.79237	D	0.479	0.77012	.	.	0.932662659516	0.93197	0.33203882396136863	0.33116	0.407976113078	0.41643	0.548724234104	0.45677	T	0.087226	0.37897	T	-0.234052	0.16115	T	-0.112341	0.62424	T	0.361885010786427	0.27482	T	0.870213	0.57527	D	0.2875269	0.51763	0.21673688	0.46312	0.2875269	0.51762	0.21673688	0.46311	-3.721	0.19628	T	.	.	0.277	0.51059	B	.;.	.;.	5.059725	0.84328	28.3	0.99955895650834736	0.99975	0.96045	0.67284	D	AEFI	0.743891	0.68705	D	0.786231737345388	0.85237	8.516455	0.787883660826088	0.88938	9.774559	0.918590398998485	0.26576	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	6.114000	0.71248	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.594	0.87906	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1207.33	33	chr10	26193250	.	G	A	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=709;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=2.06;SOR=0.859	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1221,0,982	18	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.02632	1267.33	38	chr10	29533429	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.75;DP=806;ExcessHet=0;FS=3.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.211;SOR=0.409	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1281,0,1735	18	0	1	0
chr10	35608376	35608376	C	T	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.C863T:p.T288M	.	404	1113	5	0	0	5	0.00224115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0056	0.00239617	0.0078	0.0015	0.0031	0	0.0435	0.0114	0	0.0072	0.0033311	515	154602	rs141883026	0.0073	0.0071	0.0074	0.0071	0.0082	0.0071	0.0071	0.0081	0.0080	0.0013	0.0023	0.0005	2.772e-05	0.0064	0.0016	0.0082	0.0065	0.0059	0.0054	0.0054	0.0053	0.0055	0.0077	0.0051	0.0050	0.0071	0.0069	0.0016	0.0822	0.0026	0.0006	0.0004	0.0089	0.0034	0.0077	0.0033	0.0025	0.213	0.19430	T	0.25	0.23707	T	0.079	0.24468	B	0.002	0.06944	B	0.000000	0.00162	N	7.388010	1	0.08975	N	0.295	0.10161	N	-4.44	0.97515	D	0.3	0.04091	N	0.084	0.06059	0.095	0.84079	D	0.602	0.85847	D	10	0.0027668178	0.00043	T	.	.	.	0.173	0.43840	.	.	0.278968121808	0.27521	0.12049763946566953	0.11976	0.287887621189	0.31188	0.396187543869	0.24538	T	0.020956	0.16408	T	-0.408207	0.02043	T	-0.354432	0.38697	T	0.00298685721869819	0.00031	T	0.425957	0.11436	T	0.03444091	0.03864	0.044579335	0.05806	0.03444091	0.03864	0.044579335	0.05805	-4.547	0.31498	T	.	.	0.088	0.11845	B	.	.	-0.463611	0.01986	0.174	0.82521898844299524	0.14236	0.00514	0.02403	N	AEFDBI	0.022729	0.01174	N	-1.54756329324156	0.01549	0.06765474	-1.57312870663511	0.01821	0.08296265	0.999725276011193	0.42220	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.81	-3.57	0.04316	-0.734000	0.04997	-3.572000	0.02686	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.1525:0.3919	6.492	0.21319	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002601	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015385	0.02632	842.33	34	chr10	35608376	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.444;SOR=0.653	GT:AD:DP:GQ:PL	0/1:17,29:46:99:856,0,378	18	0	1	0
chr10	42793891	42793891	A	C	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon9:c.A1129C:p.I377L	.	550	968	4	0	0	4	0.00206186	.	.	.	2367670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00828823382652	0.0002	.	0.0005	0	0.0010	0	0	0.0005	0.0011	0.0005	0.0003558	55	154602	rs199913378	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	0.0001	0.0009	0.0026	0	9.36e-05	0.0031	0.0003	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0010	0.0029	0	0	0	0.0004	0.0014	0.0002	0.543	0.06735	T	0.2	0.27591	T	0.72	0.42342	P	0.345	0.42592	B	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.52	0.73523	M	3.13	0.08014	T	-0.96	0.25551	N	0.447	0.48504	-1.0670	0.10085	T	0.030	0.12760	T	10	0.04001993	0.02537	T	0.008288	0.21954	T	0.185	0.45933	.	.	0.473932634616	0.47021	0.23066799459833928	0.22981	0.196573779005	0.22022	0.668484628201	0.62621	T	0.018726	0.15043	T	-0.362961	0.03965	T	-0.369558	0.36940	T	0.619019210338593	0.37165	D	0.848015	0.52922	T	0.19749665	0.41617	0.16102046	0.37476	0.19749665	0.41616	0.16102046	0.37475	-10.233	0.75294	D	.	.	0.142	0.31203	B	.	.	2.773347	0.36409	20.2	0.98297845438387332	0.40011	0.99480	0.96546	D	AEFBI	0.843484	0.76051	D	0.36161753080237	0.59357	4.114285	0.452523495241008	0.64880	4.753597	0.999931430211922	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	8.737000	0.91261	.	.	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	1.0:0.0:0.0:0.0	15.937	0.79505	867	0.32089	.	.	.	.	.	.	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	0.002415	0.000000	0.005479	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2607.83	35	chr10	42793891	.	A	C	2607.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.829;DP=808;ExcessHet=0.119;FS=2.476;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=1.06;QD=13.44;ReadPosRankSum=-0.25;SOR=0.529	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1209,0,807	17	0	2	0
chr10	45826564	45826564	T	A	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.A1343T:p.Q448L,AGAP4:NM_001276343:exon8:c.A1412T:p.Q471L,AGAP4:NM_001291379:exon10:c.A1088T:p.Q363L	.	.	.	.	.	.	.	.	.	.	.	3957131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0020255820818	0.0007	0.00119808	0.0005	0.0058	0.0003	0	0	7.067e-05	0	0	0.0002305	6	26028	rs148544608	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.938e-05	0.0023	0.0022	0.0028	0.0003	0	0	0	0.0014	3.291e-05	0.0004	0	0.0007	0.0007	0.0007	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0005	0	0	0	0	0.0001	0.0030	0	0.065	0.36310	T	0.12	0.37449	T	0.802	0.45105	P	0.696	0.54017	P	0.004229	0.33968	N	0.229143	0.930249	0.27076	N	0.08	0.08321	N	1.16	0.38073	T	-3.42	0.67241	D	0.208	0.27197	-1.0667	0.10154	T	0.056	0.23565	T	9	0.0077528358	0.00176	T	0.002026	0.03668	T	0.088	0.25558	.	.	0.117506650769	0.11410	0.0535609099602119	0.05298	.	.	0.61513364315	0.55041	T	0.077375	0.35640	T	-0.473791	0.00805	T	-0.456081	0.27028	T	0.0876175838598307	0.10933	T	0.823718	0.48487	T	0.25993088	0.49048	0.12762627	0.30720	0.25993088	0.49048	0.12762627	0.30719	-6.4	0.49509	T	.	.	0.176	0.40015	B	.;.;.;.	.;.;.;.	1.161092	0.15498	11.90	0.71467153654052606	0.09639	0.31228	0.24284	N	AEFI	0.250350	0.37041	N	-0.678184703511392	0.16644	0.8498423	-0.833570740541955	0.13683	0.7111495	1.85292889225204E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	1.960000	0.40046	-0.209000	0.10871	0.115000	0.17631	0.867000	0.30739	0.000000	0.08366	0.215000	0.22324	0.0:0.4896:0.0:0.5104	2.651	0.04694	751	0.51694	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2079.43	47	chr10	45826564	.	T	A	2079.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=1445;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=39.87;MQRankSum=-2.102;QD=9.63;ReadPosRankSum=1.52;SOR=0.597	GT:AD:DP:GQ:PL	0/1:123,93:216:99:2093,0,3187	18	0	1	0
chr10	47357335	47357335	G	A	exonic	RBP3	.	nonsynonymous SNV	RBP3:NM_002900:exon4:c.G3622A:p.G1208R	.	.	.	.	.	.	.	.	.	.	.	796406	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.649	0.134629398518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206764279	1.573e-05	1.573e-05	1.634e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.529e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.08	0.63911	T	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	0.787959	0.78410	D	.	.	.	.	.	.	.	.	.	0.9857393777194522	0.98566	.	.	.	.	.	0.22114	0.58463	T	.	.	.	.	.	.	.	.	.	0.890711	0.62461	D	.	.	.	.	.	.	.	.	-5.561	0.42434	T	0.6474395785053676	0.71907	0.698	0.72881	P	.	.	4.188827	0.63122	24.5	.	.	.	.	.	.	0.905474	0.85705	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.000000	0.93104	11.075000	0.85649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	976	0.04745	Tail specific protease|Tail specific protease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1191.33	33	chr10	47357335	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=713;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.26;SOR=0.602	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1205,0,1149	18	0	1	0
chr10	48240413	48240413	G	A	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon4:c.C575T:p.T192I,FRMPD2:NM_001018071:exon6:c.C647T:p.T216I	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0142827435549	.	.	7.436e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs753960656	6.228e-05	6.225e-05	5.04e-05	7.429e-05	0.0008	5.164e-05	4.783e-05	0.0006	0.0006	0	0	0	0	0	0.0003	1.079e-05	0.0002	0.0008	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.133	0.26409	T	0.158	0.31629	T	0.115	0.27908	B	0.05	0.25678	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	1.55	0.64086	T	-1.17	0.31778	N	0.132	0.12770	-1.0019	0.29372	T	0.118	0.41516	T	9	0.04069388	0.02659	T	0.014283	0.34290	T	0.037	0.09474	0.222	0.14518	0.266843984389	0.26308	0.1123104565144746	0.11160	0.0329144133845	0.03442	0.407691538334	0.26137	T	0.017726	0.14410	T	-0.515319	0.00468	T	-0.650036	0.08951	T	0.0206452624681871	0.00764	T	0.657934	0.26722	T	0.035171222	0.04089	0.043851912	0.05550	0.035171222	0.04089	0.043851912	0.05550	-3.635	0.23173	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	0.422414	0.07933	4.638	0.96770275706375664	0.31034	0.02076	0.06179	N	AEFDBI	0.030404	0.03055	N	-0.881945562896125	0.11273	0.5431033	-0.930283459167976	0.11381	0.5794659	0.621556980829882	0.21890	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	1.04	0.19220	0.197000	0.16999	-0.869000	0.07110	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1255:0.0:0.4589:0.4156	3.898	0.08652	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1383.33	34	chr10	48240413	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.853;DP=723;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.673;SOR=0.933	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1397,0,889	18	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,22:76:99:0|1:50104141_G_C:270,0,1735:50104141	8	0	7	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,22:76:99:0|1:50104141_G_C:270,0,1735:50104141	11	0	6	2
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P,PRKG1:NM_006258:exon10:c.G1090C:p.A364P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.4	34	chr10	52251583	.	G	C	33.4	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.296;DP=1512;ExcessHet=0.3672;FS=220.707;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.09;ReadPosRankSum=1.6;SOR=10.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,29:130:6:.:.:6,0,2099:.	15	0	3	1
chr10	62376313	62376313	G	C	exonic	ZNF365	.	nonsynonymous SNV	ZNF365:NM_014951:exon2:c.G120C:p.L40F,ZNF365:NM_199450:exon2:c.G120C:p.L40F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	.	0.0074	0.00878594	0.0027	0.0254	0.0025	0	0	0.0005	0.0011	0	0.0026196	405	154602	rs79142251	0.0013	0.0013	0.0014	0.0012	0.0271	0.0013	0.0012	0.0256	0.0250	0.0271	0.0029	0.0001	0	1.872e-05	0.0047	0.0006	0.0027	3.478e-05	0.0082	0.0082	0.0087	0.0077	0.0263	0.0078	0.0077	0.0250	0.0245	0.0263	0	0.0065	0	0	0	0.0102	0.0005	0.0066	0	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.000000	0.974776	0.39133	D	1.04	0.26193	L	-0.06	0.63568	T	-2.77	0.72594	D	0.826	0.82157	-0.6524	0.62609	T	0.134	0.44720	T	10	0.009283781	0.00210	T	.	.	.	0.389	0.70521	0.304	0.27325	0.855891094515	0.85450	0.2763698991296513	0.27549	0.854601233187	0.68698	0.71561819315	0.69408	T	0.161151	0.50528	T	-0.200793	0.20691	T	-0.0402526	0.67685	D	0.0337482762077963	0.02596	T	0.978677	0.92517	D	0.2834305	0.51375	0.32061064	0.58014	0.2834305	0.51375	0.32061064	0.58014	-8.603	0.66615	D	.	.	0.482	0.63773	A	.;.;.;.	.;.;.;.	3.380211	0.46749	22.3	0.99873696373640752	0.95076	0.90675	0.52050	D	AEFBI	0.414241	0.48359	N	0.470217447253808	0.65360	4.812558	0.402094294570554	0.61696	4.373323	0.999544816007362	0.40300	0.625279	0.40028	0	0.563428	0.19063	0	0.577349	0.28860	0	0.59522	0.37078	0	.	.	5.83	2.94	0.33188	1.590000	0.36264	1.910000	0.29640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1354:0.0:0.7366:0.128	8.293	0.31132	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014617	0.065657	0.021739	0.005848	0.000000	0.000000	0.003067	0.000000	0.02632	1755.33	36	chr10	62376313	.	G	C	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=780;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.132;SOR=0.637	GT:AD:DP:GQ:PL	0/1:92,71:163:99:1769,0,2573	18	0	1	0
chr10	80142157	80142157	G	A	exonic	PLAC9	.	nonsynonymous SNV	PLAC9:NM_001012973:exon2:c.G140A:p.R47H,PLAC9:NM_001331125:exon2:c.G140A:p.R47H	.	431	1051	34	6	0	46	0.0214153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.00958466	0.0060	0.0003	0.0014	0.0001	0	0.0016	0.0034	0.0365	0.0052781	816	154602	rs140942088	0.0034	0.0034	0.0022	0.0045	0.0359	0.0033	0.0032	0.0349	0.0344	0.0002	0.0013	0.0002	0.0001	3.751e-05	0.0125	0.0013	0.0035	0.0359	0.0020	0.0020	0.0015	0.0026	0.0347	0.0018	0.0018	0.0304	0.0288	0.0003	0	0.0010	0	0.0002	0	0.0170	0.0014	0.0047	0.0347	0.203	0.46129	T	0.447	0.34241	T	0.955	0.54515	P	0.202	0.36942	B	0.159526	0.03027	N	1.822350	1	0.08975	N	.	.	.	.	.	.	-2.02	0.46842	N	0.199	0.28849	-1.0179	0.24398	T	0.045	0.19194	T	8	0.0045104027	0.00093	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	0.05386547015840243	0.05328	0.0558337906702	0.06170	0.300910115242	0.10536	T	0.092442	0.40309	T	-0.528398	0.00392	T	-0.505323	0.21796	T	0.0103946692802029	0.00143	T	0.537046	0.20808	T	0.030752346	0.02793	0.029370682	0.01267	0.030752346	0.02793	0.029370682	0.01267	-4.839	0.35042	T	.	.	0.07	0.11414	B	.;.;.	.;.;.	1.452229	0.18731	13.90	0.99260506571612439	0.57188	0.04294	0.09839	N	AEFDGBCI	0.041972	0.06451	N	-0.577971813383933	0.19615	1.027963	-0.754565020862231	0.15610	0.8218491	0.999987364452922	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	3.74	0.88	0.18296	0.343000	0.19686	2.824000	0.34981	-0.192000	0.09343	0.001000	0.13787	0.185000	0.23452	0.029000	0.12982	0.3502:0.0:0.6498:0.0	5.719	0.17244	919	0.19497	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.002717	0.011696	0.000000	0.008621	0.021341	0.015152	0.02632	1642.33	37	chr10	80142157	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=788;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.626;SOR=0.598	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1656,0,1762	18	0	1	0
chr10	86663717	86663717	G	A	exonic	OPN4	.	nonsynonymous SNV	OPN4:NM_033282:exon9:c.G1313A:p.R438Q,OPN4:NM_001030015:exon10:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	2389828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00380506083292	.	.	0.0002	0	0.0005	0	0	7.047e-05	0	0.0008	5.17e-05	8	154602	rs752640451	4.139e-05	4.515e-05	3.194e-05	5.104e-05	0.0004	3.26e-05	2.985e-05	9.822e-05	7.148e-05	9.214e-05	0.0002	0	0	0	0.0004	2.286e-05	0.0002	0.0001	6.574e-05	6.567e-05	8.998e-05	4.037e-05	0.0002	3.518e-05	2.617e-05	5.287e-05	2.835e-05	4.831e-05	0	0.0002	0	0	0	0	7.351e-05	0	0	0.511	0.07473	T	0.583	0.12386	T	0.026	0.19406	B	0.001	0.04355	B	0.180774	0.03180	N	1.616980	1	0.08975	N	0.235	0.09667	N	1.08	0.39401	T	0.21	0.04776	N	0.056	0.05287	-1.0501	0.14369	T	0.042	0.18243	T	10	0.021891207	0.00534	T	0.003805	0.08868	T	0.013	0.01715	0.295	0.25881	0.117506650769	0.11410	0.13495371403835504	0.13419	0.057331122771	0.06345	0.200572863221	0.00474	T	0.049192	0.28234	T	-0.494835	0.00611	T	-0.663859	0.08008	T	0.00835759773208273	0.00101	T	0.614539	0.23442	T	0.024595032	0.01307	0.026670758	0.00770	0.024595032	0.01307	0.026670758	0.00770	-3.788	0.20625	T	.	.	0.067	0.03736	B	.;.;.	.;.;.	-0.096631	0.03660	0.735	0.48026680369228586	0.03974	0.01097	0.04030	N	AEFDBI	0.059784	0.11316	N	-1.47225792259379	0.02047	0.09001099	-1.48441984753018	0.02471	0.1137401	0.999907641011739	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	-3.34	0.04635	-0.431000	0.07034	-3.018000	0.03136	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.6098:0.1634:0.2268:0.0	6.440	0.21045	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1854.33	44	chr10	86663717	.	G	A	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=780;ExcessHet=0;FS=5.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.528;SOR=1.002	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1868,0,1594	18	0	1	0
chr10	87862403	87862403	C	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.G85A:p.G29S	Cowden syndrome 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00880886540841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230495311	5.002e-06	4.788e-06	4.23e-06	5.796e-06	6.33e-05	2.08e-06	1.34e-06	1.048e-05	3.92e-06	6.33e-05	0	0	2.798e-05	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.911	0.64720	D	.	.	.	.	0.991739	0.23991	N	0	0.06538	N	.	.	.	-4.33	0.76740	D	0.049	0.02088	-1.0331	0.19459	T	0.080	0.31735	T	7	0.12359539	0.23463	T	0.008809	0.23245	T	0.048	0.13305	0.185	0.09388	0.0401082797425	0.02173	0.007606499740980613	0.00726	.	.	0.303600847721	0.10940	T	0.048802	0.28122	T	-0.170061	0.25225	T	-0.245389	0.50271	T	0.570346092091583	0.35248	D	.	.	.	0.38359264	0.59575	0.3618863	0.61604	0.38359264	0.59575	0.3618863	0.61603	-4.017	0.24057	T	.	.	0.189	0.40666	B	.	.	1.915302	0.24327	16.35	0.99390493323630824	0.62292	0.03734	0.09030	N	ALL	0.102440	0.20549	N	-0.328275440675167	0.28078	1.54575	-0.418535085322576	0.24454	1.339136	0.999999999999997	0.74766	0.034631	0.00232	3	0.374146	0.05931	1	0.179345	0.04352	3	0.273489	0.05413	2	.	.	4.74	1.7	0.23359	-1.468000	0.02456	-1.696000	0.04897	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.494000	0.28882	0.1696:0.5021:0.3284:0.0	8.132	0.30193	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	.	.	.	.	.	.	.	.	0.02632	2306.33	34	chr10	87862403	.	C	T	2306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.346;DP=844;ExcessHet=0;FS=13.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.19;SOR=0.437	GT:AD:DP:GQ:PL	0/1:106,98:204:99:2320,0,2382	18	0	1	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	150.82	85	chr10	89403641	.	G	C	150.82	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.958;DP=1759;ExcessHet=0.3672;FS=162.58;InbreedingCoeff=-0.2146;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.5;SOR=9.855	GT:AD:DP:GQ:PL	0/1:68,26:102:99:119,0,1180	9	0	3	7
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	337.81	149	chr10	95938628	.	T	C	337.81	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.079;DP=1474;ExcessHet=0.3672;FS=137.288;InbreedingCoeff=-0.0861;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.195;SOR=8.302	GT:AD:DP:GQ:PL	0/1:117,26:143:56:56,0,3066	16	0	3	0
chr10	98390715	98390715	T	C	exonic	PYROXD2	.	nonsynonymous SNV	PYROXD2:NM_032709:exon12:c.A1175G:p.N392S	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00574299962437	.	0.000599042	7.672e-05	0.0001	0	0	0	6.79e-05	0	0.0002	7.12e-05	11	154602	rs577553113	4.255e-05	4.446e-05	3.548e-05	4.969e-05	0.0014	3.387e-05	3.074e-05	0.0007	0.0005	0.0001	4.532e-05	0	0	0	0.0014	2.794e-05	9.978e-05	0.0001	5.915e-05	5.907e-05	9e-05	2.689e-05	0.0002	3.078e-05	2.21e-05	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0002	0.21	0.19639	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.022227	0.26675	N	0.384755	0.909799	0.27531	N	2.365	0.68172	M	1.89	0.23688	T	-2.93	0.61284	D	0.139	0.13769	-1.0173	0.24592	T	0.040	0.17234	T	10	0.024946332	0.00705	T	0.005743	0.14892	T	0.055	0.15663	0.421	0.46365	0.231873229951	0.22792	0.19473347168081784	0.19391	0.0296334331242	0.03046	0.28323122859	0.07947	T	0.049666	0.28373	T	-0.487733	0.00669	T	-0.673943	0.07357	T	0.0549089275300503	0.06343	T	0.785321	0.42297	T	0.04603247	0.07637	0.07285159	0.15764	0.04603247	0.07637	0.07285159	0.15763	-6.044	0.46646	T	.	.	0.077	0.06387	B	.	.	0.315904	0.06908	3.447	0.5865479996834474	0.06042	0.61669	0.31552	D	AEFDGBCI	0.226012	0.35002	N	-1.02820692437696	0.08022	0.3746905	-1.02810430002141	0.09170	0.4547118	0.999989869653957	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.96	-1.67	0.07798	1.426000	0.34478	-4.887000	0.01941	-0.133000	0.13014	0.933000	0.32380	0.000000	0.08366	0.015000	0.10482	0.0:0.3289:0.0:0.6711	10.037	0.41308	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1880.33	35	chr10	98390715	.	T	C	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=775;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.161;SOR=0.542	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1894,0,1528	18	0	1	0
chr10	99819263	99819263	G	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon19:c.G2614C:p.A872P	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0861583172957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.278	0.21812	T	0.002	0.09854	B	0.002	0.06944	B	0.901604	0.07359	N	1.042290	1	0.08975	N	1.905	0.50856	L	-2.57	0.89692	D	-0.63	0.18459	N	0.159	0.16586	-0.6652	0.62045	T	0.467	0.79422	T	10	0.100625366	0.18336	T	0.086158	0.74680	D	0.268	0.58254	0.267	0.21418	0.601523639021	0.59834	0.3591369973630948	0.35827	0.0438404211194	0.04719	0.319420903921	0.13333	T	0.054247	0.29669	T	-0.0939701	0.37419	T	-0.372758	0.36566	T	0.0534931718557039	0.06103	T	0.49515	0.15352	T	0.060914025	0.12554	0.11794685	0.28473	0.060914025	0.12554	0.11794685	0.28472	-4.129	0.25716	T	0.1696497336308229	0.21284	0.114	0.22644	B	.;.	.;.	1.348408	0.17559	13.23	0.72082953891603119	0.09850	0.49399	0.28424	N	AEFBCI	0.447909	0.50336	N	-1.23617480871956	0.04485	0.2025275	-1.18035483613932	0.06238	0.2996594	0.795112505101804	0.24085	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	0.225	0.14598	1.436000	0.34590	0.951000	0.22923	-0.886000	0.02417	0.985000	0.35982	0.999000	0.35428	0.056000	0.15673	0.3232:0.1024:0.5744:0.0	8.673	0.33323	753	0.51500	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	35.39	24	chr10	99819263	.	G	C	35.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.04;DP=552;ExcessHet=0;FS=12.755;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.733;SOR=3.797	GT:AD:DP:GQ:PL	0/1:14,10:24:48:48,0,322	16	0	1	2
chr10	102148479	102148479	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon8:c.C3716T:p.S1239L,PPRC1:NM_001288728:exon10:c.C4148T:p.S1383L,PPRC1:NM_015062:exon10:c.C4508T:p.S1503L	.	412	1109	1	0	0	1	0.000450653	.	.	.	2395334	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0509863360594	.	.	4.942e-05	0	0	0	0	1.498e-05	0	0.0003	3.88e-05	6	154602	rs758703390	2.259e-05	2.257e-05	1.499e-05	3.027e-05	0.0003	1.611e-05	1.417e-05	8.886e-05	7.054e-05	0	2.236e-05	0	2.519e-05	0	0.0003	9.001e-06	9.94e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.072	0.78490	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000112	0.50451	D	0.214001	0.999995	0.81001	D	2.36	0.67893	M	0.85	0.47130	T	-4.4	0.79743	D	0.503	0.63883	-0.7218	0.59374	T	0.206	0.56499	T	10	0.3714322	0.53505	T	0.050986	0.64471	D	0.269	0.58381	0.285	0.24280	0.243187853663	0.23924	0.6313578490613649	0.63069	0.154366644916	0.17432	0.698874294758	0.66981	T	0.150466	0.76171	T	-0.149642	0.28367	T	-0.250073	0.49810	T	0.917362034320831	0.57517	D	0.867113	0.85148	D	0.4164089	0.61852	0.38894483	0.63726	0.4164089	0.61853	0.38894483	0.63726	-11.373	0.81663	D	.	.	0.547	0.80106	A	.;.;.	.;.;.	3.731446	0.53380	23.4	0.99537934216942281	0.70336	0.96397	0.68938	D	AEFDGBCI	0.761848	0.69944	D	0.595060489939982	0.72865	5.873555	0.625008680048208	0.76760	6.550961	0.999999999999943	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.893000	0.69538	7.667000	0.64568	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.150000	0.20306	0.0:1.0:0.0:0.0	18.592	0.91174	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2435.33	40	chr10	102148479	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.444;DP=859;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=2.17;SOR=0.664	GT:AD:DP:GQ:PL	0/1:73,90:163:99:2449,0,2085	18	0	1	0
chr10	102617378	102617378	G	A	exonic	SUFU	.	nonsynonymous SNV	SUFU:NM_001178133:exon10:c.G1246A:p.A416T,SUFU:NM_016169:exon10:c.G1246A:p.A416T	Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	524907	Medulloblastoma|Gorlin_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided	Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0338377845043	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs779490664	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.397	0.11227	T	0.586	0.09489	T	0.694	0.51194	P	0.119	0.33818	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.61	0.53516	T	-0.55	0.22508	N	0.847	0.84298	-1.0399	0.17343	T	0.079	0.31284	T	10	0.6550132	0.69822	D	0.033838	0.55262	D	0.189	0.46613	0.69	0.82748	0.29893580763	0.29502	0.736327118584829	0.73577	0.767229710591	0.64573	0.850808739662	0.89737	D	0.137215	0.47002	T	-0.0687216	0.41531	T	-0.167362	0.57684	T	0.708410680294037	0.41122	D	0.970203	0.89274	D	0.43293548	0.62944	0.2984655	0.55880	0.43293548	0.62945	0.2984655	0.55879	-3.462	0.16014	T	0.09791605247028497	0.06944	0.659	0.75899	P	.;.;.	.;.;.	4.307714	0.65821	24.9	0.99547233619076581	0.70898	0.98962	0.89228	D	AEFGBI	0.879013	0.80465	D	0.232771397953265	0.52792	3.451325	0.370612706438377	0.59758	4.156554	0.999999999999992	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	9.602000	0.97623	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.482	0.90764	706	0.57215	Suppressor of fused 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	.	.	.	.	.	.	.	.	0.02632	1718.33	33	chr10	102617378	.	G	A	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.009;SOR=0.688	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1732,0,1635	18	0	1	0
chr10	113589697	113589697	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon40:c.A4949G:p.N1650S,NRAP:NM_006175:exon40:c.A4952G:p.N1651S,NRAP:NM_001261463:exon41:c.A5057G:p.N1686S,NRAP:NM_198060:exon41:c.A5057G:p.N1686S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00634438329926	.	.	2.477e-05	0	8.64e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs774507330	3.215e-05	3.215e-05	2.859e-05	3.575e-05	0.0002	2.478e-05	2.22e-05	0.0001	0.0001	5.974e-05	0.0002	0	0	0	0.0002	9.892e-06	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0	4.41e-05	0	0	0.864	0.02645	T	0.201	0.29056	T	0.0	0.02946	B	0.002	0.06944	B	0.001201	0.39899	N	0.286864	0.999207	0.21792	N	1.95	0.52479	M	2.56	0.16089	T	0.85	0.01736	N	0.143	0.15328	-0.9862	0.33542	T	0.027	0.11707	T	10	0.06070918	0.07499	T	0.006344	0.16668	T	0.084	0.24469	.	.	0.373357554552	0.36949	0.26149541921686714	0.26062	0.0590435623881	0.06558	0.324397563934	0.14087	T	0.002452	0.02616	T	-0.460485	0.00977	T	-0.607082	0.12223	T	0.0493235410873956	0.05381	T	0.79872	0.44372	T	0.046570465	0.07817	0.06412569	0.12806	0.046570465	0.07817	0.06412569	0.12806	0.327	0.00252	T	.	.	0.084	0.10352	B	.;.;.;.	.;.;.;.	1.632311	0.20842	14.93	0.73326261491323808	0.10287	0.41396	0.26648	N	AEFDBHCI	0.543849	0.55901	D	-0.279946001322987	0.29922	1.663782	-0.0475613201787289	0.37597	2.203429	0.9976368553018	0.35843	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	2.557000	0.45533	0.936000	0.22816	0.665000	0.62972	0.994000	0.38300	0.782000	0.26788	0.990000	0.65344	0.1289:0.0:0.0:0.8711	12.058	0.52844	904	0.23766	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	397.33	38	chr10	113589697	.	T	C	397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=2.45;SOR=0.588	GT:AD:DP:GQ:PL	0/1:32,20:52:99:411,0,812	18	0	1	0
chr10	114220663	114220663	G	C	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon17:c.G2248C:p.V750L,TDRD1:NM_001385366:exon18:c.G2419C:p.V807L,TDRD1:NM_001385371:exon18:c.G2446C:p.V816L,TDRD1:NM_001365891:exon19:c.G2590C:p.V864L,TDRD1:NM_001385363:exon19:c.G2590C:p.V864L,TDRD1:NM_001385364:exon19:c.G2590C:p.V864L,TDRD1:NM_001385365:exon19:c.G2590C:p.V864L,TDRD1:NM_001385367:exon19:c.G2590C:p.V864L,TDRD1:NM_001385368:exon19:c.G2590C:p.V864L,TDRD1:NM_001385369:exon19:c.G2590C:p.V864L,TDRD1:NM_001385372:exon19:c.G2590C:p.V864L,TDRD1:NM_198795:exon19:c.G2590C:p.V864L	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00897890147148	0.0038	0.00299521	0.0024	0.0060	0.0059	0	0.0002	0.0023	0.0099	0.0001	0.0025744	398	154602	rs7914059	0.0026	0.0026	0.0027	0.0025	0.0135	0.0025	0.0025	0.0111	0.0102	0.0075	0.0072	0.0026	5.04e-05	5.616e-05	0.0135	0.0025	0.0044	0.0002	0.0042	0.0042	0.0044	0.0040	0.0084	0.0039	0.0038	0.0073	0.0068	0.0068	0	0.0084	0.0020	0	0	0.0136	0.0029	0.0123	0	0.251	0.18308	T	0.407	0.14679	T	0.0	0.02946	B	0.001	0.04355	B	0.393321	0.13225	N	0.744172	1	0.08975	N	0.55	0.14455	N	3.07	0.08547	T	-0.55	0.16799	N	0.113	0.10626	-0.9723	0.36712	T	0.012	0.04416	T	10	0.0057115555	0.00127	T	0.008979	0.23655	T	0.080	0.23350	.	.	0.0934897674506	0.08844	0.2987666964497419	0.29789	0.190863816393	0.21398	0.291804879904	0.09185	T	.	.	.	-0.729044	0.00024	T	-0.810602	0.01652	T	0.000303526365367835	0.00002	T	0.644436	0.25592	T	.	.	.	.	.	.	.	.	-5.023	0.37089	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	0.589717	0.09582	6.356	0.79054049163036344	0.12570	0.06080	0.12053	N	AEFBI	0.043346	0.06841	N	-1.09160806242375	0.06796	0.313917	-1.03118507922896	0.09103	0.4510639	0.00120461467481162	0.08334	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	-5.45	0.02411	-0.355000	0.07721	0.763000	0.21331	0.662000	0.56354	0.432000	0.26424	0.937000	0.28687	0.993000	0.69303	0.2487:0.2501:0.3683:0.1329	2.744	0.04938	898	0.25240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020665	0.066327	0.024457	0.017544	0.000000	0.034483	0.003049	0.000000	0.02632	999.33	33	chr10	114220663	.	G	C	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=708;ExcessHet=0;FS=3.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-1.259;SOR=0.35	GT:AD:DP:GQ:PL	0/1:23,36:59:99:1013,0,638	18	0	1	0
chr10	117341050	117341050	C	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925C:p.E309Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.115356928521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.227	0.25362	T	0.361	0.33905	B	0.068	0.27651	B	0.100580	0.19880	N	0.530412	0.72942	0.33703	D	1.04	0.26193	L	-2.02	0.85542	D	-0.26	0.11185	N	0.307	0.34659	-0.2578	0.76147	T	0.382	0.73862	T	10	0.1287536	0.24493	T	0.115357	0.79451	D	0.219	0.51417	0.262	0.20631	0.41089407703	0.40707	0.32572278031787566	0.32485	0.733746948318	0.62856	0.471481502056	0.34884	T	0.004072	0.03483	T	-0.0192899	0.48954	T	-0.265485	0.48274	T	0.299490293607814	0.24983	T	0.535046	0.17917	T	0.10697685	0.25296	0.07411807	0.16179	0.10697685	0.25296	0.07411807	0.16178	-4.109	0.25423	T	.	.	0.137	0.29833	B	.	.	2.687011	0.35067	19.80	0.99215066277239283	0.55716	0.83537	0.42647	D	AEFBI	0.436196	0.49651	N	0.0261702783483278	0.43048	2.605428	0.215140493430459	0.50686	3.258188	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	G	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,29:116:30:0|1:117341048_C_T:30,0,2344:117341048	13	0	4	2
chr10	121961464	121961464	G	A	exonic	NSMCE4A	.	nonsynonymous SNV	NSMCE4A:NM_001167865:exon7:c.C898T:p.R300C,NSMCE4A:NM_017615:exon7:c.C898T:p.R300C	.	.	.	.	.	.	.	.	.	.	.	2731968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.0990491514333	.	.	4.26e-05	0.0001	9.035e-05	0.0001	0	0	0.0012	6.382e-05	3.23e-05	5	154602	rs201293057	2.456e-05	2.599e-05	2.794e-05	2.116e-05	0.0002	1.784e-05	1.578e-05	8.616e-05	6.088e-05	0	9.255e-05	0	0.0002	0	0	2.087e-05	1.701e-05	1.259e-05	9.85e-05	9.843e-05	0.0001	8.058e-05	0.0008	6.003e-05	4.877e-05	0.0005	0.0004	0	0	0.0008	0	0.0004	0	0	1.47e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.8	0.48769	T	-5.73	0.87611	D	0.862	0.85872	-0.4555	0.70218	T	0.304	0.67519	T	10	0.8614664	0.85368	D	0.099049	0.77043	D	0.492	0.77847	.	.	0.763362891706	0.76120	0.8170267025591237	0.81658	1.04943173481	0.76094	0.710285305977	0.68635	T	0.29385	0.66654	T	0.0975494	0.64026	D	0.18706	0.82400	D	0.819185325091136	0.47712	D	0.974603	0.90967	D	0.54848284	0.69871	0.48636293	0.70272	0.54848284	0.69872	0.48636293	0.70273	-11.341	0.81495	D	.	.	0.355	0.56914	A	.	.	5.954375	0.94172	33	0.99919196733606896	0.98654	0.93116	0.57369	D	AEFDBI	0.768744	0.70421	D	0.853564116731116	0.89311	9.919658	0.826708149694281	0.91586	10.96217	0.104064585243046	0.16464	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	5.62	5.62	0.85714	6.270000	0.72545	9.898000	0.82326	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.846:0.154	13.741	0.62331	936	0.14734	Non-structural maintenance of chromosome element 4, 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	.	.	.	.	.	.	.	.	0.02632	452.33	36	chr10	121961464	.	G	A	452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.197;DP=693;ExcessHet=0;FS=5.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=-0.501;SOR=0.799	GT:AD:DP:GQ:PL	0/1:43,21:64:99:466,0,1122	18	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:66,24:95:5:5,0,993	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,30:112:99:0|1:124989533_G_A:883,0,3284:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:104,21:125:99:194,0,3494	2	0	17	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,19:183:99:0|1:124994489_T_G:304,0,6694:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,25:185:99:0|1:124994489_T_G:566,0,6579:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,25:180:99:0|1:124994489_T_G:581,0,6340:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,32:195:99:0|1:124994523_G_A:818,0,6567:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:161,34:195:99:384,0,4618	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:153,38:191:99:425,0,4536	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,39:195:99:0|1:124994577_C_A:1168,0,6287:124994577	0	0	19	0
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3: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	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-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	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039033	.	T	A	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.557;DP=1277;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.85;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.955;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,16:164:99:0|1:125039033_T_A:226,0,6105:125039033	15	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039035	.	T	C	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.641;DP=1268;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.84;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.658;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,16:164:99:0|1:125039033_T_A:226,0,6105:125039033	15	0	4	0
chr10	133288244	133288244	T	C	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon10:c.A1217G:p.E406G,TUBGCP2:NM_006659:exon11:c.A1607G:p.E536G,TUBGCP2:NM_001256617:exon12:c.A1691G:p.E564G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0126306289411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.38633	T	0.007	0.70582	D	0.91	0.50240	P	0.737	0.55577	P	0.000001	0.62929	D	0.097855	1	0.81001	D	1.77	0.45869	L	3.05	0.08721	T	-5.34	0.84674	D	0.736	0.73645	-1.0881	0.05856	T	0.039	0.16935	T	10	0.7917952	0.78725	D	0.012631	0.31371	T	0.313	0.63482	0.576	0.70087	0.448794319169	0.44501	0.6088015693911547	0.60812	0.943014675479	0.72284	0.640417218208	0.58623	T	0.25217	0.62252	T	0.0439231	0.57556	T	-0.174684	0.57013	T	0.975051522254944	0.70768	D	0.940606	0.79065	D	0.44693372	0.63847	0.4441107	0.67604	0.44693372	0.63848	0.4441107	0.67604	-8.958	0.72669	D	.	.	0.145	0.37274	B	.;.;.;.;.	.;.;.;.;.	5.288994	0.88801	29.7	0.99881096374740541	0.95733	0.97991	0.78693	D	AEFDBI	0.937536	0.93546	D	0.437847861649418	0.63519	4.586949	0.486016368314609	0.67061	5.034077	0.999985884301302	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.769000	0.84183	7.719000	0.67224	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	14.440	0.66884	991	0.01385	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	33	chr10	133288244	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.728;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.61;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1141,0,1107	18	0	1	0
chr10	133565522	133565522	C	A	exonic	SYCE1	.	nonsynonymous SNV	SYCE1:NM_001143763:exon1:c.G8T:p.G3V,SYCE1:NM_001143764:exon1:c.G8T:p.G3V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00239171728087	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343382649	7.155e-07	1.368e-06	1.412e-06	0	9.27e-07	0	0	.	.	0	0	0	0	0	0	9.27e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.39334	T	0.112	0.40426	T	0.176	0.28893	B	0.125	0.32635	B	.	.	.	.	0.999998	0.08975	N	1.95	0.52479	M	1.47	0.31987	T	-0.85	0.23156	N	0.208	0.23125	-1.0104	0.26791	T	0.036	0.15465	T	9	0.06565422	0.08889	T	0.002392	0.04673	T	0.027	0.05988	0.131	0.03577	0.373715746628	0.36985	0.1202851110907973	0.11955	0.34022045831	0.35964	0.667739272118	0.62516	T	0.017251	0.27912	T	-0.165011	0.25991	T	-0.474803	0.25001	T	0.0909030921086669	0.11325	T	0.577542	0.20782	T	0.056708474	0.11194	0.114643626	0.27673	0.056708474	0.11194	0.114643626	0.27672	-4.277	0.27853	T	.	.	0.203	0.49383	B	.;.	.;.	1.767243	0.22475	15.64	0.94765093581854631	0.25480	0.01842	0.05707	N	AEFDBI	0.046325	0.07681	N	-1.08559276226362	0.06908	0.3193659	-1.18225492218793	0.06205	0.2979987	1.04869633470559E-4	0.05123	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.39	0.387	0.15484	0.320000	0.19288	0.281000	0.16766	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3737:0.6263:0.0:0.0	4.605	0.11765	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	494.33	34	chr10	133565522	.	C	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.476;DP=690;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=0.579;SOR=0.487	GT:AD:DP:GQ:PL	0/1:41,26:67:99:508,0,1062	18	0	1	0
chr11	403712	403712	G	A	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon10:c.G2018A:p.R673H,PKP3:NM_001303029:exon11:c.G2063A:p.R688H	.	423	1098	1	0	0	1	0.000455166	.	.	.	4041284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.302	0.122576482833	7.7e-05	.	3.349e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs199853396	2.675e-05	2.873e-05	2.048e-05	3.309e-05	0.0002	2.003e-05	1.759e-05	0.0001	7.817e-05	5.974e-05	0.0002	0	0	0	0.0002	1.889e-05	3.315e-05	4.637e-05	4.601e-05	4.596e-05	3.855e-05	5.382e-05	0.0003	2.11e-05	1.527e-05	8.873e-05	5.284e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.12	0.58754	M	0.7	0.51474	T	-2.73	0.58085	D	0.849	0.84505	-0.5198	0.67921	T	0.285	0.65705	T	10	0.81741846	0.80969	D	0.122576	0.80358	D	0.302	0.62290	.	.	0.752955129789	0.75071	0.6842687799659432	0.68365	0.454903777487	0.45175	0.691474020481	0.65918	T	0.616718	0.87929	D	-0.201192	0.20631	T	-0.242061	0.50598	T	0.428662573903388	0.30011	T	0.935006	0.75597	D	0.47914517	0.65848	0.3361746	0.59423	0.47914517	0.65849	0.3361746	0.59422	-11.69	0.83308	D	.	.	0.533	0.66073	A	.	.	5.515137	0.91724	32	0.99939145623094439	0.99734	0.98743	0.86283	D	AEFBI	0.859045	0.77665	D	0.438342801252602	0.63546	4.59029	0.323094136434086	0.56901	3.854127	0.999900597915183	0.45458	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.37	3.45	0.38602	6.306000	0.72778	11.414000	0.92699	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0825:0.0:0.9175:0.0	12.566	0.55659	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2353.33	34	chr11	403712	.	G	A	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=912;ExcessHet=0;FS=3.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.17;SOR=0.976	GT:AD:DP:GQ:PL	0/1:103,102:205:99:2367,0,2534	18	0	1	0
chr11	549946	549946	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon7:c.C371T:p.A124V	.	403	1032	83	4	0	91	0.0422274	.	.	.	1662102	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0035	0.00798722	0.0099	0.0010	0.0043	0	0.0037	0.0055	0.0263	0.0435	0.0088421	1367	154602	rs61747447	0.0065	0.0065	0.0052	0.0078	0.0451	0.0064	0.0064	0.0440	0.0435	0.0010	0.0041	0.0088	2.519e-05	0.0035	0.0342	0.0039	0.0075	0.0451	0.0047	0.0047	0.0039	0.0056	0.0389	0.0044	0.0043	0.0343	0.0326	0.0007	0	0.0080	0.0095	0	0.0052	0.0238	0.0040	0.0066	0.0389	0.022	0.48642	D	0.03	0.54159	D	0.698	0.41805	P	0.315	0.41566	B	0.000209	0.47681	D	0.182863	0.745689	0.33872	D	1.66	0.42513	L	2.84	0.10674	T	-2.19	0.49352	N	0.161	0.16864	-1.0411	0.16981	T	0.027	0.11707	T	10	0.005618125	0.00125	T	.	.	.	0.104	0.29647	.	.	0.346768085243	0.34289	0.38699509775960966	0.38614	.	.	0.325840711594	0.14305	T	0.030476	0.21593	T	-0.612688	0.00122	T	-0.620725	0.11128	T	0.0215623699485929	0.00860	T	0.873013	0.58094	D	0.13397506	0.31143	0.14610958	0.34627	0.13397506	0.31143	0.14610958	0.34626	-8.334	0.63324	D	0.6091609485991119	0.67664	0.170	0.37426	B	.	.	3.881730	0.56424	23.7	0.99731846317511674	0.82833	0.80143	0.39860	D	AEFBI	0.126387	0.24331	N	0.2985784982147	0.56078	3.771958	0.317709649831436	0.56581	3.821541	0.999925574302959	0.46280	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.71	3.77	0.42499	1.248000	0.32429	4.606000	0.44017	0.549000	0.26987	0.241000	0.24758	1.000000	0.68203	0.986000	0.61781	0.0:0.9053:0.0:0.0947	11.104	0.47414	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.000000	0.010870	0.032164	0.000000	0.051724	0.015244	0.053030	0.02632	1433.33	35	chr11	549946	.	C	T	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.11;ReadPosRankSum=-1.005;SOR=0.649	GT:AD:DP:GQ:PL	0/1:27,48:75:99:1447,0,670	18	0	1	0
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:406,70:574:99:.:.:1694,0,17017:.	9	0	9	1
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,24:213:99:0|1:1018256_T_G:438,0,7864:1018256	5	0	14	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1053	5645.41	33	chr11	1075685	.	C	T	5645.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.157;DP=891;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.103;SOR=0.692	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1401,0,1343	16	1	2	0
chr11	1096142	1096142	C	0	exonic	MUC2	.	.	.	.	488	947	10	0	77	87	0.0052521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	816.39	440	chr11	1096142	.	C	*	816.39	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.868;DP=7900;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.118;MQ=56.6;MQRankSum=-1.136;QD=0.44;ReadPosRankSum=1.89;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,98:429:99:.:.:638,0,13386:.	13	0	4	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,102:278:99:.:.:2469,0,15447:.	14	0	5	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,45:278:99:.:.:1121,0,8667:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,45:278:99:.:.:1121,0,8667:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,45:371:99:0|1:1096170_TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_*:885,0,10563:1096170	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,45:371:99:0|1:1096170_TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_*:885,0,10563:1096170	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,45:371:99:0|1:1096170_TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_*:885,0,10563:1096170	8	0	6	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,45:371:99:0|1:1096170_TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_*:885,0,10563:1096170	9	0	6	4
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	*	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,6:39:99:0|1:1096735_G_A:110,0,1193:1096735	6	0	3	10
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	49.9	24	chr11	1096745	.	T	*	49.9	.	AC=3;AF=0.188;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=5;MLEAF=0.313;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,6:39:99:0|1:1096735_G_A:110,0,1193:1096735	5	0	3	11
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	188.79	28	chr11	1096749	.	C	G	188.79	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.03;DP=744;ExcessHet=0.4742;FS=19.98;InbreedingCoeff=0.2231;MLEAC=2;MLEAF=0.067;MQ=49.36;MQRankSum=0;QD=1.47;ReadPosRankSum=-2.639;SOR=1.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,5:39:68:0|1:1096735_G_A:68,0,1197:1096735	13	0	2	4
chr11	1096872	1096872	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	831	689	0	2	0	4	0.00289436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245511194	0.0010	0.0009	0.0008	0.0011	0.0047	0.0009	0.0009	0.0023	0.0017	0.0015	0.0002	0	5.595e-05	7.46e-05	0.0047	0.0010	0.0009	0.0016	0.0004	0.0002	0.0008	0	0.0009	0	0	.	.	0	0	0	0	0	0	0	0.0009	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	.	.	.	.	.	.	.	.	0.02632	1340.34	28	chr11	1096872	.	C	T	1340.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=762;ExcessHet=0;FS=6.581;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=42.47;MQRankSum=-0.511;QD=19.43;ReadPosRankSum=1.05;SOR=0.843	GT:AD:DP:GQ:PL	0/1:13,56:69:99:1354,0,105	18	0	1	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7507.2	150	chr11	1097542	.	C	T	7507.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1122,0,872	15	0	3	1
chr11	1098698	1098698	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1272151093	0.0010	0.0043	0.0007	0.0013	0.0049	0.0010	0.0009	0.0032	0.0027	0.0016	0.0008	0.0003	0.0013	0.0006	0.0049	0.0010	0.0013	0.0005	0.0011	0.0045	0.0012	0.0011	0.0018	0.0010	0.0009	0.0014	0.0012	0.0018	0	0.0010	0.0013	0.0012	0.0011	0.0147	0.0008	0.0008	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	856.56	422	chr11	1098698	.	C	T	856.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.97;DP=4575;ExcessHet=0;FS=0.672;InbreedingCoeff=0.1555;MLEAC=1;MLEAF=0.031;MQ=43.15;MQRankSum=-2.916;QD=6.07;ReadPosRankSum=0.272;SOR=0.624	GT:AD:DP:GQ:PL	0/1:96,45:141:99:869,0,2839	15	0	1	3
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	236.17	272	chr11	1098766	.	CCACGG	C	236.17	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.099;DP=3773;ExcessHet=0.1259;FS=2.931;InbreedingCoeff=0.0337;MLEAC=2;MLEAF=0.067;MQ=40.25;MQRankSum=-1.745;QD=0.75;ReadPosRankSum=1.08;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,34:181:99:0|1:1098766_CCACGG_C:160,0,5826:1098766	13	0	2	4
chr11	1248603	1248603	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11723T:p.S3908F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00406889895047	.	.	1.689e-05	0	0	0	0	1.535e-05	0	6.08e-05	6.5e-06	1	154602	rs758540158	1.848e-05	1.847e-05	1.362e-05	2.339e-05	0.0001	1.266e-05	1.085e-05	8.001e-05	6.239e-05	0	0	0	0	0	0	1.17e-05	3.314e-05	0.0001	6.581e-06	6.567e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.255	0.64187	M	1.73	0.26445	T	-1.89	0.44094	N	0.118	0.10769	-1.0585	0.12134	T	0.051	0.21767	T	9	0.13848019	0.26337	T	0.004069	0.09712	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.23535419499999627	0.23450	.	.	0.211132317781	0.00860	T	0.028942	0.20850	T	-0.287313	0.09907	T	-0.650482	0.08921	T	0.0564385250026891	0.06597	T	0.69743	0.30707	T	0.07678517	0.17387	0.09830138	0.23430	0.07678517	0.17386	0.09830138	0.23429	-9.088	0.68261	D	.	.	0.168	0.36986	B	.	.	1.631532	0.20829	14.93	0.84360120520782034	0.15246	0.04475	0.10087	N	AEFI	0.046617	0.07761	N	-0.688957966852693	0.16334	0.8313357	-0.927821765217485	0.11439	0.5827535	1.56496209388142E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.11	-2.21	0.06581	-1.222000	0.03074	1.178000	0.24674	0.326000	0.19454	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.4356:0.333:0.1422:0.0893	3.123	0.06012	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	49	chr11	1248603	.	C	T	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=1994;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.27;MQRankSum=-0.792;QD=10.81;ReadPosRankSum=-0.726;SOR=0.632	GT:AD:DP:GQ:PL	0/1:123,95:218:99:2371,0,3364	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,78:151:99:.:.:5578,2482,2806:.	8	2	9	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	0/1:63,82:145:99:2148,0,1471	13	2	4	0
chr11	3228399	3228399	C	T	exonic	MRGPRE	.	nonsynonymous SNV	MRGPRE:NM_001039165:exon2:c.G401A:p.R134H	.	308	1213	0	1	0	2	0.000823723	.	.	.	3450188	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00871373374402	0.0005	0.000399361	0.0003	0.0038	0	0	0	0.0001	0	0	0.0001682	26	154602	rs199984224	8.216e-05	8.414e-05	9.336e-05	7.084e-05	0.0015	6.999e-05	6.547e-05	0.0012	0.0011	0.0015	4.584e-05	0	0	2.084e-05	0	5.057e-05	0.0001	1.171e-05	0.0006	0.0006	0.0006	0.0005	0.0020	0.0005	0.0004	0.0016	0.0015	0.0020	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.874	0.03277	T	.	.	.	.	.	.	0.066817	0.21785	U	0.324845	0.888653	0.27922	N	0.73	0.18813	N	-0.72	0.72994	T	-4.84	0.81030	D	0.039	0.01274	-0.9985	0.30339	T	0.051	0.21572	T	10	0.008328229	0.00189	T	0.008714	0.23001	T	0.042	0.11227	.	.	0.621089364347	0.61801	0.12453909380478892	0.12379	.	.	0.375213861465	0.21576	T	0.002646	0.02035	T	-0.448945	0.01145	T	-0.447734	0.27947	T	0.124564094584126	0.14870	T	0.577942	0.20808	T	0.057323262	0.11395	0.03141646	0.01727	0.057323262	0.11395	0.03141646	0.01727	-1.33	0.01450	T	.	.	0.083	0.09336	B	.	.	1.477296	0.19022	14.05	0.99877162239380657	0.95410	0.04602	0.10258	N	AEFDBCI	0.047876	0.08110	N	-0.69739976560952	0.16095	0.8170425	-0.699007074731105	0.16985	0.9011098	0.797707424524042	0.24130	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.61	1.48	0.21900	-1.549000	0.02286	0.381000	0.17781	0.549000	0.26987	0.002000	0.15269	0.928000	0.28476	0.471000	0.28363	0.0:0.5692:0.0:0.4308	5.536	0.16301	976	0.04745	7TM GPCR, serpentine receptor class x  (Srx)|GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1249.33	66	chr11	3228399	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=1134;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.708;SOR=0.858	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1263,0,1030	18	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1245.14	135	chr11	4488904	.	C	T	1245.14	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.131;DP=1915;ExcessHet=11.1788;FS=183.82;InbreedingCoeff=-0.4989;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.31;SOR=12.726	GT:AD:DP:GQ:PL	0/1:58,22:100:17:17,0,842	16	0	2	1
chr11	5403008	5403008	T	C	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.T412C:p.Y138H	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00253781620546	.	0.000199681	0.0011	0	0	0	0	0	0	0.0023	0.0001423	22	154602	rs572777708	0.0006	0.0003	0.0005	0.0007	0.0129	0.0005	0.0005	0.0096	0.0084	0	0.0004	0	0	0	0.0129	0.0002	0.0006	0.0018	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	4.808e-05	0	0.0003	0	0	0	0.0102	0.0002	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3153.33	195	chr11	5403008	.	T	C	3153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.301;DP=2264;ExcessHet=0;FS=5.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.008;SOR=0.636	GT:AD:DP:GQ:PL	0/1:97,106:203:99:3167,0,2772	18	0	1	0
chr11	6623077	6623077	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8599A:p.A2867T	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	428	1076	18	0	0	18	0.00829493	.	.	.	1196080	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0057	0.00379393	0.0100	0.0028	0.0067	0	0.0016	0.0160	0.0061	0.0039	0.0046507	719	154602	rs146233988	0.0065	0.0065	0.0066	0.0065	0.0113	0.0064	0.0064	0.0091	0.0083	0.0011	0.0046	0.0212	2.593e-05	0.0008	0.0113	0.0071	0.0078	0.0030	0.0053	0.0053	0.0054	0.0051	0.0079	0.0050	0.0049	0.0070	0.0068	0.0013	0	0.0079	0.0210	0	0.0006	0.0034	0.0076	0.0080	0.0041	0.21	0.19639	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.001414	0.39109	N	0.000000	0.990491	0.24163	N	0.175	0.09039	N	0.23	0.59717	T	-1.3	0.32590	N	0.308	0.34767	-1.0651	0.10526	T	0.062	0.25672	T	10	0.011419386	0.00250	T	.	.	.	0.052	0.14661	.	.	0.272557281605	0.26857	0.3646127875677745	0.36375	0.183227035329	0.20612	0.364038228989	0.19972	T	0.089174	0.38315	T	-0.449616	0.01135	T	-0.412645	0.31922	T	0.00922406063220715	0.00117	T	0.712529	0.32403	T	0.047270615	0.08051	0.07459197	0.16333	0.047270615	0.08051	0.07459197	0.16332	-5.334	0.40278	T	.	.	0.071	0.04002	B	.	.	2.289612	0.29282	18.07	0.98327669376725069	0.40309	0.14302	0.18331	N	AEFDBI	.	.	.	-0.467978113883131	0.23135	1.240253	-0.287298167383484	0.28516	1.590583	0.999981505549986	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	1.372000	0.33866	4.064000	0.41610	0.599000	0.40250	0.011000	0.18532	1.000000	0.68203	0.993000	0.69303	0.0:0.826:0.0:0.174	7.380	0.26025	539	0.73055	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	0.010585	0.020408	0.019022	0.008772	0.050000	0.008621	0.003049	0.000000	0.05263	2034.83	71	chr11	6623077	.	C	T	2034.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=969;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.796;SOR=0.746	GT:AD:DP:GQ:PL	0/1:38,31:69:99:882,0,1020	17	0	2	0
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	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	0.009063	0.000000	0.008152	0.008772	0.000000	0.025862	0.012195	0.007576	0.07895	8085.79	41	chr11	6892050	.	T	C	8085.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.734;DP=2158;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.305;SOR=0.674	GT:AD:DP:GQ:PL	0/1:91,109:200:99:2747,0,2574	16	0	3	0
chr11	7796270	7796270	G	A	exonic	OR5P2	.	nonsynonymous SNV	OR5P2:NM_153444:exon1:c.C673T:p.R225C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0217449924596	7.8e-05	.	6.638e-05	0	8.664e-05	0.0005	0	4.5e-05	0	0	5.17e-05	8	154602	rs374622867	5.765e-05	5.753e-05	6.419e-05	5.104e-05	0.0014	4.758e-05	4.38e-05	0.0011	0.0010	0	0.0002	0	0.0014	0	0	1.441e-05	1.662e-05	4.668e-05	3.39e-05	4.675e-05	5.294e-05	1.39e-05	0.0002	1.291e-05	8.2e-06	8.82e-06	3.3e-06	5.323e-05	0	0	0	0.0002	0	0	2.949e-05	0	0	0.032	0.44694	D	0.04	0.50809	D	0.114	0.26387	B	0.117	0.32014	B	0.506500	0.05122	N	1.249150	0.620146	0.30787	N	1.625	0.41611	L	1.04	0.40218	T	-3.66	0.70067	D	0.187	0.20395	-0.8714	0.50424	T	0.119	0.41735	T	10	0.12635228	0.24020	T	0.021745	0.44560	T	0.079	0.23065	.	.	0.617576649361	0.61448	0.21438703762271402	0.21354	0.0055018748095	0.00483	0.187576532364	0.00185	T	0.021738	0.16878	T	-0.387184	0.02805	T	-0.493615	0.23012	T	0.140343442444759	0.16305	T	.	.	.	0.17196234	0.37861	0.1451537	0.34437	0.17196234	0.37860	0.1451537	0.34436	-5.434	0.41245	T	.	.	0.100	0.17232	B	.	.	2.002234	0.25439	16.76	0.99128064859057974	0.53169	0.08047	0.14022	N	AEFBI	0.067188	0.13197	N	-0.486889173605448	0.22510	1.202431	-0.471085720878328	0.22955	1.249379	1.7537747560878E-6	0.01202	0.500041	0.20204	0	0.624306	0.53593	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	-0.15	0.12759	-0.164000	0.09972	-2.653000	0.03504	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.688000	0.33778	0.0744:0.0:0.4262:0.4993	8.730	0.33652	753	0.51500	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1701.33	33	chr11	7796270	.	G	A	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1354;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=2.58;SOR=0.64	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1715,0,2208	18	0	1	0
chr11	7938764	7938764	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G757A:p.G253S	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0041579155283	0.0018	0.000599042	0.0020	0.0004	0.0012	0	0	0.0029	0.0033	0.0015	0.0018758	290	154602	rs146467002	0.0021	0.0021	0.0021	0.0020	0.0026	0.0020	0.0020	0.0020	0.0020	0.0004	0.0016	0.0115	0	0.0004	0.0026	0.0021	0.0024	0.0018	0.0017	0.0017	0.0016	0.0017	0.0022	0.0015	0.0014	0.0019	0.0018	0.0004	0	0.0020	0.0132	0	0	0	0.0022	0.0014	0.0019	0.084	0.32929	T	0.067	0.44302	T	0.911	0.50336	P	0.6	0.50752	P	0.000833	0.41547	U	0.000000	0.994676	0.23467	N	1.575	0.39704	L	1.14	0.38397	T	-4.75	0.80256	D	0.266	0.30118	-0.9849	0.33856	T	0.119	0.41648	T	10	0.010415167	0.00232	T	0.004158	0.09995	T	0.158	0.41098	.	.	0.503374072614	0.49975	0.16378177724729304	0.16298	0.037006608582	0.03923	0.348554730415	0.17710	T	0.018675	0.15012	T	-0.428311	0.01517	T	-0.393564	0.34135	T	0.0345433062293743	0.02730	T	.	.	.	0.30084637	0.52981	0.3623418	0.61641	0.30084637	0.52981	0.3623418	0.61641	-6.25	0.48325	T	.	.	0.123	0.26294	B	.;.	.;.	3.647009	0.51738	23.1	0.99732202545928039	0.82833	0.23058	0.21952	N	AEFBI	0.184090	0.31141	N	0.194996121171081	0.50958	3.28109	0.16720067293782	0.48060	3.027184	2.07294232545529E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	1.709000	0.37528	4.440000	0.43382	0.591000	0.32079	0.126000	0.23278	0.997000	0.33255	0.896000	0.43308	0.0:1.0:0.0:0.0	15.619	0.76536	793	0.45818	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	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.012195	0.007576	0.02632	2197.33	48	chr11	7938764	.	C	T	2197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.268;SOR=0.743	GT:AD:DP:GQ:PL	0/1:68,74:142:99:2211,0,1843	18	0	1	0
chr11	17097170	17097170	C	G	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_001321380:exon26:c.G3073C:p.D1025H,PIK3C2A:NM_002645:exon27:c.G4213C:p.D1405H,PIK3C2A:NM_001321378:exon28:c.G4213C:p.D1405H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.0208303866156	.	0.000199681	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs553276138	1.918e-05	1.915e-05	2.181e-05	1.652e-05	0.0003	1.33e-05	1.145e-05	6.099e-05	2.524e-05	8.972e-05	2.236e-05	0	0	0	0.0003	1.891e-05	0	1.16e-05	1.97e-05	1.969e-05	2.571e-05	1.343e-05	4.813e-05	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	-0.2	0.66113	T	-5.26	0.84105	D	0.623	0.63798	-0.1107	0.79851	T	0.473	0.79737	T	10	0.7319663	0.74360	D	0.02083	0.43499	T	0.431	0.73735	.	.	0.883679240782	0.88254	0.7775629664714145	0.77706	0.676006828977	0.59743	0.765130579472	0.76695	T	0.797752	0.94810	D	0.0498957	0.58330	T	0.0197991	0.71617	D	0.924214124679565	0.58527	D	0.944506	0.78979	D	0.6937802	0.77717	0.7203396	0.83488	0.6937802	0.77718	0.7203396	0.83489	-7.383	0.56785	T	.	.	0.736	0.74464	P	.	.	4.941676	0.81561	27.6	0.99627724508869975	0.75837	0.99103	0.91270	D	AEFGBI	0.890411	0.82541	D	0.921498724781674	0.92771	11.61974	0.917764601450362	0.96300	14.53289	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.659	0.99629	385	0.83500	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1404.33	35	chr11	17097170	.	C	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=779;ExcessHet=0;FS=3.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.375;SOR=0.973	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1418,0,1652	18	0	1	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.02632	2164.33	33	chr11	17169343	.	A	C	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.588;DP=767;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.329;SOR=0.53	GT:AD:DP:GQ:PL	0/1:50,74:124:99:2178,0,1390	18	0	1	0
chr11	17509602	17509602	G	T	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_153676:exon18:c.C1767A:p.S589R	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3549733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0307191930613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770217616	8.284e-06	1.163e-05	1.371e-05	2.781e-06	6.888e-05	4.42e-06	3.49e-06	1.827e-05	9.06e-06	0	6.888e-05	0	0	0	0	7.224e-06	1.666e-05	0	3.349e-05	3.304e-05	3.911e-05	2.755e-05	0.0002	1.279e-05	8.11e-06	5.452e-05	2.881e-05	0	0	0.0002	0	0	0	0	1.48e-05	0.0005	0	0.02	0.49613	D	0.269	0.22426	T	.	.	.	.	.	.	0.040209	0.24084	N	0.457002	1	0.08975	N	.	.	.	1.15	0.38236	T	-0.49	0.15578	N	0.391	0.43223	-1.1037	0.03672	T	0.051	0.21844	T	9	0.08960596	0.15535	T	0.030719	0.52967	D	0.114	0.32008	0.313	0.28774	0.0986583533028	0.09354	0.3032752642778567	0.30240	0.0765811414804	0.08593	0.465307801962	0.34037	T	.	.	.	-0.348727	0.04807	T	-0.50203	0.22137	T	0.106228064468018	0.13030	T	0.585041	0.21304	T	.	.	.	.	.	.	.	.	-4.732	0.33789	T	.	.	0.313	0.54004	B	.	.	0.121450	0.05188	1.703	0.89827364652304198	0.19136	0.02778	0.07482	N	AEFBI	0.122481	0.23764	N	-1.78776000484907	0.00576	0.02480123	-1.91013664272757	0.00467	0.02070012	0.999998615449103	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.44	-9.69	0.00438	-0.802000	0.04651	-0.648000	0.08043	-1.684000	0.00781	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1286:0.097:0.7744:0.0	19.044	0.92994	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2599.33	33	chr11	17509602	.	G	T	2599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=1896;ExcessHet=0;FS=7.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.089;SOR=0.711	GT:AD:DP:GQ:PL	0/1:88,94:182:99:2613,0,2180	18	0	1	0
chr11	17555792	17555792	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon6:c.C590T:p.P197L,OTOG:NM_001292063:exon7:c.C554T:p.P185L	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3500029	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.115720299372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189025785	2.36e-05	2.394e-05	2.4e-05	2.32e-05	0.0001	1.684e-05	1.481e-05	4.248e-05	2.584e-05	0.0001	2.801e-05	0	0	0	0	2.224e-05	5.173e-05	1.262e-05	6.571e-05	6.567e-05	6.424e-05	6.725e-05	0.0001	3.517e-05	2.616e-05	6.284e-05	4.3e-05	0.0001	0	6.543e-05	0	0	0	0	2.94e-05	0.0005	0	0.019	0.50132	D	0.005	0.72224	D	.	.	.	.	.	.	0.002254	0.36929	U	0.108147	0.99589	0.42910	D	2.62	0.76659	M	0.26	0.59314	T	-8.5	0.97298	D	0.17	0.21710	-0.7893	0.55770	T	0.234	0.60112	T	8	0.24854943	0.42153	T	0.11572	0.79498	D	0.270	0.58507	0.564	0.68499	0.598875534596	0.59568	0.41256527849039054	0.41172	.	.	0.49841684103	0.38607	T	0.239727	0.60791	T	-0.25595	0.13378	T	-0.350385	0.39162	T	0.980229258537292	0.73245	D	0.923208	0.72041	D	0.22492789	0.45144	0.19380552	0.42969	0.22492789	0.45144	0.19380552	0.42968	-1.728	0.02304	T	.	.	0.079	0.07224	B	.;.	.;.	2.704438	0.35333	19.87	0.99680382655869781	0.79241	0.13246	0.17747	N	AEFDGBI	0.081142	0.16416	N	-0.136352318108603	0.35817	2.062185	-0.190976274838524	0.31866	1.807511	0.0337455960796927	0.14120	0.446893	0.09132	0	0.563428	0.19063	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.29	3.31	0.37025	0.682000	0.25015	3.277000	0.37202	0.599000	0.40250	0.193000	0.24225	0.998000	0.33993	0.361000	0.25909	0.0:0.613:0.2946:0.0923	7.043	0.24212	764	0.49969	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.02632	963.33	37	chr11	17555792	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=736;ExcessHet=0;FS=4.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.465;SOR=0.351	GT:AD:DP:GQ:PL	0/1:52,39:91:99:977,0,1421	18	0	1	0
chr11	18718721	18718721	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon8:c.G704A:p.R235Q	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0077	0.00299521	0.0057	0.0016	0.0038	0.0001	0.0020	0.0088	0.0091	0.0013	0.0056597	875	154602	rs74743312	0.0071	0.0072	0.0073	0.0069	0.0079	0.0070	0.0069	0.0078	0.0077	0.0013	0.0043	0.0258	5.053e-05	0.0016	0.0045	0.0079	0.0076	0.0014	0.0061	0.0061	0.0066	0.0057	0.0079	0.0058	0.0057	0.0074	0.0072	0.0017	0.1557	0.0048	0.0184	0.0002	0.0011	0.0068	0.0079	0.0080	0.0023	0.162	0.23541	T	0.185	0.28958	T	.	.	.	.	.	.	0.073144	0.21364	N	0.237042	1	0.08975	N	.	.	.	0.73	0.50721	T	-1.61	0.38734	N	0.115	0.10340	-1.0561	0.12750	T	0.059	0.24871	T	10	0.002345264	0.00035	T	.	.	.	0.091	0.26358	.	.	0.412715890961	0.40891	0.1259008563187276	0.12516	0.260319576292	0.28604	0.223542779684	0.01524	T	.	.	.	-0.538032	0.00344	T	-0.539649	0.18331	T	0.0124066226192968	0.00203	T	0.714029	0.32612	T	.	.	.	.	.	.	.	.	-4.765	0.34180	T	.	.	0.162	0.35767	B	.	.	2.004369	0.25467	16.77	0.99503519358242176	0.68206	0.02973	0.07818	N	AEFBI	0.077642	0.15648	N	-0.260157747911556	0.30700	1.71426	-0.277269570089191	0.28848	1.611686	4.71335904190054E-5	0.03989	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.09	3.21	0.35933	-0.023000	0.12403	0.128000	0.15008	0.549000	0.26987	0.195000	0.24249	0.513000	0.25267	0.996000	0.76049	0.0:0.7168:0.0:0.2832	7.069	0.24348	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.025253	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	2005.83	35	chr11	18718721	.	C	T	2005.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=723;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.932;SOR=0.765	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1087,0,613	17	0	2	0
chr11	45928838	45928838	G	A	exonic	LARGE2	.	nonsynonymous SNV	LARGE2:NM_001300721:exon14:c.G2159A:p.R720Q,LARGE2:NM_152312:exon14:c.G2159A:p.R720Q,LARGE2:NM_001300722:exon15:c.G2066A:p.R689Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0018885986882	.	.	3.562e-05	0	0	0	0	1.638e-05	0	0.0002	3.23e-05	5	154602	rs758308941	1.643e-05	1.642e-05	1.362e-05	1.927e-05	0.0002	1.112e-05	9.34e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	1.259e-05	0	0.0001	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.0	0.01387	B	0.000132	0.00470	N	9.285620	1	0.08975	N	0	0.06538	N	0.92	0.44856	T	-0.12	0.08809	N	0.192	0.21449	-1.0120	0.26291	T	0.063	0.26029	T	10	0.06534675	0.08802	T	0.001889	0.03325	T	0.107	0.30369	.	.	0.146414634003	0.14194	0.5588576767168686	0.55812	0.150283844389	0.16954	0.287747561932	0.08595	T	0.005625	0.22034	T	-0.351506	0.04633	T	-0.53909	0.18387	T	0.0979624231153986	0.12131	T	0.493751	0.15260	T	0.16243497	0.36319	0.14228806	0.33856	0.16243497	0.36319	0.14228806	0.33855	-3.699	0.19304	T	.	.	0.072	0.06803	B	.;.;.;.	.;.;.;.	1.978572	0.25134	16.65	0.96024498186754348	0.28486	0.59488	0.30929	D	AEFDBCI	0.189845	0.31708	N	-0.966884104007745	0.09318	0.4404779	-0.935177672707294	0.11268	0.5729862	0.998410003866408	0.36924	0.631515	0.41029	0	0.550933	0.16991	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.79	0.637	0.16907	0.798000	0.26674	-0.164000	0.11293	-0.117000	0.14459	0.350000	0.25759	0.000000	0.08366	0.005000	0.06747	0.3857:0.0:0.6143:0.0	5.868	0.18037	331	0.86429	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	34	chr11	45928838	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.104;SOR=0.754	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1014,0,1051	18	0	1	0
chr11	46889524	46889524	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon16:c.G2102A:p.R701H	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.108096509034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749973981	6.158e-06	6.156e-06	5.446e-06	6.877e-06	2.519e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	1.656e-05	0	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.144	0.25255	T	0.598	0.07999	T	0.046	0.21875	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.815	0.20815	L	-2.25	0.87272	D	-1.33	0.33197	N	0.758	0.75650	-0.3400	0.73844	T	0.477	0.79976	T	10	0.5741818	0.65486	D	0.108097	0.78447	D	0.503	0.78538	0.534	0.64293	0.654956258558	0.65207	0.49348610790437275	0.49269	0.77627009895	0.65042	0.683307468891	0.64743	T	0.168327	0.51530	T	0.0814009	0.62205	D	0.0606782	0.74290	D	0.205454496630831	0.20713	T	0.951205	0.81406	D	0.26070684	0.49127	0.12930377	0.31092	0.26070684	0.49127	0.12930377	0.31091	-5.941	0.45783	T	.	.	0.106	0.19720	B	.	.	4.000790	0.58953	24.0	0.99946734528052572	0.99913	0.97501	0.75158	D	AEFGBCI	0.929509	0.91537	D	-0.00315710247508416	0.41712	2.49996	0.216558933785129	0.50764	3.265217	0.999999999999999	0.74766	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.638833	0.57524	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.473	0.94961	12	0.98946	EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	35	chr11	46889524	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.399;SOR=0.723	GT:AD:DP:GQ:PL	0/1:35,33:68:99:885,0,801	18	0	1	0
chr11	48216903	48216903	G	A	exonic	OR4B1	.	nonsynonymous SNV	OR4B1:NM_001005470:exon1:c.G94A:p.V32M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00314021609026	0.0023	0.000399361	0.0018	0.0005	0.0011	0	0	0.0028	0.0022	0.0010	0.0018952	293	154602	rs149679682	0.0034	0.0034	0.0036	0.0032	0.0041	0.0033	0.0033	0.0040	0.0040	0.0006	0.0009	0	2.519e-05	0.0003	0.0007	0.0041	0.0040	0.0009	0.0019	0.0019	0.0021	0.0015	0.0035	0.0017	0.0016	0.0031	0.0030	0.0005	0	0.0009	0	0	0.0004	0	0.0035	0.0014	0.0008	0.42	0.09836	T	0.26	0.23029	T	0.124	0.26825	B	0.027	0.21085	B	0.237276	0.15789	N	0.568971	0.999969	0.18878	N	-0.115	0.04602	N	7.41	0.00408	T	-0.4	0.13805	N	0.051	0.02272	-1.0077	0.27634	T	0.000	0.00152	T	10	0.016532809	0.00349	T	0.00314	0.06845	T	0.005	0.00259	.	.	0.101711395817	0.09552	0.09792305809065764	0.09723	0.00532159262164	0.00468	0.239629909396	0.02758	T	0.003357	0.02758	T	-0.714651	0.00030	T	-0.798507	0.01940	T	0.00165388567913155	0.00017	T	0.858114	0.54842	D	0.037060037	0.04679	0.034273732	0.02464	0.037060037	0.04679	0.034273732	0.02464	-4.613	0.32335	T	.	.	0.095	0.15025	B	.	.	0.444432	0.08144	4.877	0.60165701209349831	0.06398	0.03742	0.09043	N	AEFGI	0.044659	0.07214	N	-1.09222360354575	0.06785	0.3133731	-1.07472030194108	0.08200	0.402145	0.012299186786324	0.12307	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	-0.321	0.12087	-2.690000	0.00903	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4635:0.0:0.3651:0.1714	3.759	0.08122	137	0.94565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1204.33	43	chr11	48216903	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=2149;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.608;SOR=0.651	GT:AD:DP:GQ:PL	0/1:80,46:126:99:1218,0,2009	18	0	1	0
chr11	55650922	55650922	G	A	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.G19A:p.V7I	.	587	924	6	5	0	16	0.00858369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0022	0.00878594	0.0069	0.0006	0.0015	0	0.0235	0.0043	0.0052	0.0233	0.0057244	885	154602	rs145635951	0.0048	0.0048	0.0042	0.0054	0.0190	0.0047	0.0047	0.0182	0.0179	0.0005	0.0016	0.0015	2.929e-05	0.0207	0.0042	0.0034	0.0047	0.0190	0.0040	0.0041	0.0026	0.0054	0.0198	0.0037	0.0036	0.0164	0.0151	0.0003	0	0.0005	0.0022	0.0002	0.0236	0	0.0036	0.0022	0.0198	0.158	0.23905	T	0.195	0.28032	T	0.225	0.30426	B	0.016	0.17743	B	0.006710	0.31850	N	0.141107	1	0.08975	N	2.15	0.60148	M	5.89	0.00629	T	-0.61	0.18042	N	0.044	0.01658	-0.8961	0.48380	T	0.003	0.00800	T	10	0.0023490489	0.00035	T	.	.	.	0.036	0.09122	.	.	0.292062946507	0.28806	0.10252447023312405	0.10182	0.0324401509581	0.03388	0.286191225052	0.08370	T	0.007666	0.07062	T	-0.702187	0.00035	T	-0.786035	0.02276	T	0.00707196976343677	0.00081	T	0.876912	0.58964	D	0.051794764	0.09565	0.05576347	0.09843	0.051794764	0.09565	0.05576347	0.09843	-4.895	0.35678	T	.	.	0.100	0.17060	B	.;.	.;.	2.287716	0.29260	18.06	0.93264363516291859	0.22959	0.00229	0.01284	N	AEFI	0.016542	0.00378	N	-0.637402919959838	0.17830	0.9207691	-0.63976103781499	0.18475	0.9871397	1.26479000049538E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	1.02	0.19102	-1.710000	0.01988	0.159000	0.15383	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.513:0.0:0.487:0.0	7.012	0.24048	151	0.94052	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003838	0.000000	0.001471	0.003247	0.000000	0.009091	0.003268	0.004237	0.02941	2735.13	34	chr11	55650922	.	G	A	2735.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.6;DP=787;ExcessHet=0;FS=8.561;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.94;SOR=1.179	GT:AD:DP:GQ:PL	0/1:114,108:222:99:2748,0,2707	16	0	1	2
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,30:192:99:0|1:56375918_A_G:772,0,6712:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,30:192:99:0|1:56375918_A_G:772,0,6712:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,30:192:99:0|1:56375918_A_G:772,0,6712:56375918	2	0	16	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	476.1	34	chr11	56412815	.	A	G	476.1	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.211;DP=2251;ExcessHet=0.7564;FS=90.684;InbreedingCoeff=-0.1374;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.61;SOR=10.773	GT:AD:DP:GQ:PL	0/1:98,28:126:99:105,0,2060	14	0	4	1
chr11	60842456	60842456	C	T	exonic	CCDC86	.	nonsynonymous SNV	CCDC86:NM_024098:exon1:c.C332T:p.P111L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0382605180126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.844	0.46645	P	0.46	0.46423	P	0.021185	0.26883	N	0.359094	0.999997	0.08975	N	2.78	0.81115	M	-0.31	0.68030	T	-2.32	0.51478	N	0.21	0.23380	-0.6555	0.62473	T	0.279	0.65068	T	10	0.19570488	0.35433	T	0.038261	0.58114	D	0.163	0.42028	0.442	0.49811	0.739573928057	0.73723	0.15761554868772645	0.15682	0.461582354357	0.45693	0.317077845335	0.12978	T	0.176725	0.52677	T	-0.00105368	0.51510	T	-0.23929	0.50867	T	0.942745745182037	0.61723	D	0.573543	0.20534	T	0.05067571	0.09191	0.0828081	0.18928	0.05067571	0.09191	0.0828081	0.18928	-4.497	0.30849	T	.	.	0.085	0.10400	B	.	.	2.180929	0.27801	17.58	0.99707575102409629	0.81074	0.05211	0.11037	N	AEFDGBCI	0.099117	0.19958	N	-0.213918070325149	0.32562	1.837697	-0.379004350947452	0.25623	1.410286	0.99999997287544	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.36	3.44	0.38486	0.263000	0.18247	-0.023000	0.12899	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.9017:0.0:0.0983	10.219	0.42365	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr11	60842456	.	C	T	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.97;DP=881;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.39;SOR=0.619	GT:AD:DP:GQ:PL	0/1:97,74:171:99:2238,0,2504	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,27:78:99:0|1:61740527_G_C:396,0,1372:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,28:80:99:0|1:61740527_G_C:427,0,1391:61740527	2	0	17	0
chr11	61960013	61960013	C	T	exonic	BEST1	.	nonsynonymous SNV	BEST1:NM_001300786:exon7:c.C809T:p.A270V,BEST1:NM_001363591:exon7:c.C752T:p.A251V,BEST1:NM_001363593:exon7:c.C98T:p.A33V,BEST1:NM_001139443:exon8:c.C890T:p.A297V,BEST1:NM_001300787:exon8:c.C890T:p.A297V,BEST1:NM_001363592:exon9:c.C1273T:p.P425S,BEST1:NM_004183:exon9:c.C1070T:p.A357V	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	314406	Retinitis_pigmentosa|Iron_Overload|Retinal_dystrophy|Autosomal_dominant_vitreoretinochoroidopathy|not_provided|Vitelliform_macular_dystrophy_2|Retinitis_Pigmentosa,_Recessive	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C0282193|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|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086|MedGen:C3661900|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.381	.	.	0.00319489	0.0016	0	0.0001	0.0204	0	0	0	0.0003	0.0012096	187	154602	rs17854138	0.0005	0.0005	0.0005	0.0005	0.0152	0.0004	0.0004	0.0142	0.0138	0	6.749e-05	0	0.0152	0	0.0002	1.441e-05	0.0005	0.0005	0.0006	0.0006	0.0007	0.0005	0.0162	0.0005	0.0005	0.0134	0.0124	0	0	0.0001	0	0.0162	0	0	0	0.0009	0.0004	0.027	0.46513	D	0.019	0.59159	D	0.049	0.22227	B	0.026	0.20792	B	0.279222	0.14976	N	0.681670	1	0.81001	D	1.445	0.36358	L	-4.16	0.96826	D	-1.19	0.31778	N	0.182	0.22098	0.741	0.93680	D	0.844	0.94784	D	10	0.008058965	0.00183	T	.	.	.	0.492	0.77847	.	.	0.93268529992	0.93199	0.5380331734855918	0.53728	0.363252834742	0.37958	0.23274615407	0.02177	T	0.136537	0.46896	T	-0.12314	0.32612	T	0.0672616	0.74726	D	0.0245131910424559	0.01210	T	0.863414	0.56692	D	0.07150303	0.15834	0.10653247	0.25630	0.08328237	0.19226	0.13351625	0.32014	-5.904	0.48635	T	0.11505648439001614	0.10251	0.118	0.26855	B	.;.	.;.	2.685325	0.35042	19.79	0.99899219742522916	0.97124	0.82988	0.42146	D	AEFBI	0.739121	0.68377	D	-0.281230759590105	0.29873	1.660555	-0.266670482234013	0.29203	1.634283	0.999999999598712	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.02	4.08	0.46880	4.957000	0.63358	2.548000	0.33250	0.599000	0.40250	0.707000	0.28693	0.021000	0.20819	0.306000	0.24642	0.155:0.845:0.0:0.0	14.271	0.65702	754	0.51307	.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	717.33	34	chr11	61960013	.	C	T	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=713;ExcessHet=0;FS=4.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-1.012;SOR=1.322	GT:AD:DP:GQ:PL	0/1:23,26:49:99:731,0,547	18	0	1	0
chr11	62529990	62529990	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T4427C:p.V1476A,AHNAK:NM_001346446:exon5:c.T4427C:p.V1476A,AHNAK:NM_001620:exon5:c.T4427C:p.V1476A	.	425	1092	4	1	0	6	0.00273973	.	.	.	724527	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0157485239026	.	0.00119808	0.0011	0	0	0.0076	0.0051	0.0004	0.0022	0.0001	0.000912	141	154602	rs75066541	0.0006	0.0006	0.0006	0.0006	0.0088	0.0006	0.0006	0.0081	0.0078	2.988e-05	0	0.0005	0.0088	0.0039	0.0005	0.0002	0.0008	0.0002	0.0008	0.0008	0.0006	0.0010	0.0093	0.0007	0.0007	0.0072	0.0065	2.418e-05	0	0	0.0006	0.0093	0.0052	0	0.0002	0.0009	0	0.039	0.42487	D	0.002	0.79402	D	0.38	0.34363	B	0.273	0.40007	B	.	.	.	.	1	0.81001	D	1.92	0.51302	L	3.51	0.04959	T	-2.6	0.55983	D	0.066	0.03841	-1.0412	0.16951	T	0.013	0.04985	T	9	0.0049177706	0.00105	T	0.015749	0.36654	T	0.057	0.16321	.	.	0.483301346737	0.47961	0.19304131450803544	0.19222	0.0932700552399	0.10540	0.276395559311	0.06995	T	0.531458	0.83793	D	-0.515528	0.00467	T	-0.508451	0.21474	T	0.0572727023978647	0.06732	T	0.523548	0.17131	T	0.108962126	0.25761	0.10708357	0.25773	0.108962126	0.25760	0.10708357	0.25772	-7.282	0.56067	T	.	.	0.146	0.32324	B	.	.	0.908356	0.12825	9.341	0.92647139511997989	0.22123	0.60057	0.31088	D	AEFBI	.	.	.	-0.437398034889702	0.24170	1.303158	-0.422531411630024	0.24337	1.332165	0.999999983564	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.23	4.23	0.49319	1.991000	0.40348	.	.	0.756000	0.94297	0.002000	0.15269	0.009000	0.19889	0.024000	0.12247	1.0:0.0:0.0:0.0	11.614	0.50339	263	0.89692	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	3982.33	42	chr11	62529990	.	A	G	3982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1315;ExcessHet=0;FS=2.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.36;SOR=0.549	GT:AD:DP:GQ:PL	0/1:95,140:235:99:3996,0,2515	18	0	1	0
chr11	63083278	63083278	C	G	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon7:c.G1250C:p.G417A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.2444862716	.	.	4.289e-05	0	0	0	0	9.025e-05	0	0	6.5e-06	1	154602	rs760260670	3.55e-06	4.104e-06	1.403e-06	5.752e-06	2.718e-05	1.04e-06	7.6e-07	8.6e-07	5.8e-07	0	2.718e-05	0	0	0	0	3.693e-06	0	0	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.108	0.29420	T	0.053	0.47336	T	0.968	0.56581	D	0.699	0.54128	P	.	.	.	.	0.99999	0.08975	N	.	.	.	-0.95	0.75438	T	-4.56	0.78636	D	0.346	0.38746	-0.2157	0.77266	T	0.420	0.76563	T	9	0.6990355	0.72326	D	0.244486	0.88846	D	0.490	0.77720	0.666	0.80401	0.592368907089	0.58914	0.4771885155191158	0.47638	0.0339211128557	0.03557	0.458521395922	0.33107	T	.	.	.	-0.236244	0.15832	T	-0.459673	0.26634	T	0.424113269127816	0.29842	T	0.654634	0.26482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44986	B	.;.	.;.	0.601896	0.09706	6.473	0.98977561802084046	0.49660	0.41790	0.26735	N	AEFBI	0.027397	0.02231	N	0.0685280370397548	0.44998	2.763917	-0.0984774532141462	0.35455	2.051347	1.6899818567179E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.8	2.82	0.32061	1.391000	0.34083	-3.363000	0.02844	-0.229000	0.07765	0.073000	0.22155	0.000000	0.08366	0.001000	0.02609	0.1937:0.8063:0.0:0.0	10.501	0.43991	809	0.43032	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1100.33	37	chr11	63083278	.	C	G	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=905;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.892;SOR=0.762	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1114,0,1500	18	0	1	0
chr11	63544756	63544756	A	-	exonic	PLAAT4	.	frameshift deletion	PLAAT4:NM_004585:exon3:c.254delA:p.Q85Hfs*7	.	431	1085	6	0	0	6	0.00275735	.	.	.	784043	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0003	0	8.639e-05	0.0028	0	8.99e-05	0.0011	0.0001	0.0001921	5	26028	rs200082177	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0001	0.0020	0.0019	0	0	3.826e-05	0.0024	5.616e-05	0.0007	8.183e-05	0.0003	0.0004	0.0002	0.0002	0.0001	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	0	0	6.538e-05	0	0.0043	0	0	7.35e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1723.29	37	chr11	63544755	.	CA	C	1723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-2.117;SOR=0.751	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1737,0,2405	18	0	1	0
chr11	64343604	64343604	C	G	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon12:c.C1307G:p.S436C	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0179895602384	.	0.000998403	9.968e-05	0	0	0.0029	0	0	0	0	0.0001035	16	154602	rs199688259	0.0003	0.0003	0.0003	0.0003	0.0110	0.0003	0.0003	0.0101	0.0098	0	2.801e-05	0	0.0110	0	0.0002	1.854e-06	0.0004	0.0003	0.0003	0.0003	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	0	0	0.0070	0	0	0	0	0.0006	0.047	0.40319	D	0.02	0.58613	D	0.997	0.70673	D	0.819	0.59018	P	.	.	.	.	0.868063	0.28251	N	0.69	0.16971	N	1.74	0.26301	T	-1.14	0.29323	N	0.407	0.44761	-1.1148	0.02688	T	0.059	0.24723	T	9	0.0067506433	0.00153	T	0.01799	0.39899	T	0.045	0.12272	.	.	0.212008924253	0.20833	0.45224413190745105	0.45142	0.857533634355	0.68814	0.607559561729	0.53971	T	0.005413	0.04862	T	-0.562369	0.00246	T	-0.572619	0.15210	T	0.135854871989315	0.15912	T	0.725127	0.33902	T	0.05266517	0.09854	0.06462604	0.12981	0.05266517	0.09853	0.06462604	0.12981	-5.753	0.44163	T	.	.	0.125	0.26294	B	.	.	3.487871	0.48738	22.7	0.96664439847642947	0.30639	0.29195	0.23757	N	AEFGBI	0.136954	0.25778	N	-0.0965881874474545	0.37540	2.18562	-0.214194624358781	0.31026	1.752076	0.999975412086735	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.05	3.14	0.35196	0.433000	0.21196	5.752000	0.49633	0.598000	0.34611	0.000000	0.06391	1.000000	0.68203	0.263000	0.23594	0.0:0.8822:0.0:0.1178	8.008	0.29495	596	0.68392	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	736.33	42	chr11	64343604	.	C	G	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=761;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.086;SOR=0.821	GT:AD:DP:GQ:PL	0/1:33,25:58:99:750,0,853	18	0	1	0
chr11	64909908	64909908	G	A	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon14:c.C1880T:p.A627V,ATG2A:NM_001367972:exon14:c.C1880T:p.A627V,ATG2A:NM_015104:exon14:c.C1880T:p.A627V	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0002	0.00678914	0.0035	0	0.0003	0.0446	0	0.0002	0	0.0007	0.0028848	446	154602	rs2285347	0.0014	0.0014	0.0014	0.0014	0.0462	0.0014	0.0014	0.0444	0.0437	0	6.742e-05	0.0002	0.0462	2.075e-05	0.0007	6.595e-05	0.0015	0.0012	0.0016	0.0016	0.0014	0.0019	0.0440	0.0015	0.0014	0.0393	0.0375	0	0	0.0003	0	0.0440	0	0	0.0002	0.0009	0.0012	0.04	0.42199	D	0.045	0.49390	D	0.203	0.29776	B	0.028	0.21332	B	0.141409	0.02889	N	1.640290	1	0.08975	N	2.08	0.57402	M	3.15	0.07820	T	-1.71	0.40660	N	0.145	0.14622	-0.9885	0.32978	T	0.005	0.01688	T	10	0.0035417974	0.00064	T	.	.	.	0.113	0.31778	.	.	0.082315109003	0.07666	0.2529197553834623	0.25205	0.14949255728	0.16857	0.339654803276	0.16387	T	0.025005	0.18784	T	-0.601156	0.00143	T	-0.602715	0.12584	T	0.0177587489943653	0.00505	T	0.663034	0.27207	T	0.03188837	0.03110	0.04088055	0.04519	0.03188837	0.03110	0.04088055	0.04519	-4.854	0.35214	T	.	.	0.083	0.09336	B	.	.	1.155655	0.15440	11.85	0.97239292528581633	0.32987	0.16235	0.19294	N	AEFDGBI	0.057608	0.10746	N	-0.972697697144956	0.09190	0.4339232	-1.01809112950853	0.09388	0.4667623	0.015687942744007	0.12743	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.59	1.35	0.21078	1.118000	0.30860	4.464000	0.43470	-0.244000	0.07312	0.002000	0.15269	0.904000	0.28019	0.000000	0.00833	0.3855:0.0:0.6145:0.0	6.081	0.19164	293	0.88320	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.000000	0.002941	0.000000	0.000000	0.012195	0.000000	0.02632	1956.33	41	chr11	64909908	.	G	A	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=862;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.757;SOR=1.008	GT:AD:DP:GQ:PL	0/1:43,67:110:99:1970,0,929	18	0	1	0
chr11	65117181	65117181	G	A	exonic	ZNHIT2	.	nonsynonymous SNV	ZNHIT2:NM_014205:exon1:c.C473T:p.P158L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0121560406817	8e-05	0.00179712	0.0007	0.0003	0	0.0085	0	3.732e-05	0	0.0001	0.0005692	88	154602	rs202046717	0.0005	0.0005	0.0005	0.0005	0.0139	0.0005	0.0004	0.0129	0.0125	0.0004	2.492e-05	0.0001	0.0139	2.709e-05	0	6.516e-05	0.0008	0.0001	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0004	0.0082	0.0074	0.0005	0	0.0003	0	0.0104	0	0	1.47e-05	0.0014	0.0004	1.0	0.00964	T	0.012	0.63918	D	0.0	0.02946	B	0.0	0.01387	B	0.720442	0.09939	N	0.798993	1	0.08975	N	1.655	0.42436	L	1.47	0.31987	T	0.43	0.03297	N	0.083	0.05929	-1.0208	0.23454	T	0.050	0.21222	T	10	0.0038998425	0.00074	T	0.012156	0.30482	T	0.019	0.03383	.	.	0.0401082797425	0.02173	0.3238930091977015	0.32302	0.519446559066	0.49770	0.630332231522	0.57192	T	0.009857	0.08945	T	-0.61345	0.00121	T	-0.649109	0.09016	T	0.00617369203227365	0.00068	T	0.510849	0.16306	T	0.025280338	0.01449	0.04015162	0.04273	0.025280338	0.01449	0.04015162	0.04272	-4.367	0.29106	T	.	.	0.080	0.07841	B	.	.	0.546570	0.09152	5.934	0.91356258104156773	0.20620	0.05123	0.10929	N	AEFDGBHCI	0.069411	0.13738	N	-1.24507590838879	0.04365	0.1968504	-1.31321449043413	0.04258	0.2004751	0.999999992673411	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.75	0.6	0.16703	0.110000	0.15273	1.308000	0.25520	-0.202000	0.08738	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.4309:0.0:0.5691:0.0	8.271	0.31006	376	0.83959	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	36	chr11	65117181	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.369;SOR=0.649	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1198,0,1702	18	0	1	0
chr11	65641237	65641237	G	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.G316T:p.A106S,SIPA1:NM_153253:exon2:c.G316T:p.A106S	.	412	1104	6	0	0	6	0.00271003	.	.	.	724606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0002	0.00678914	0.0031	0	0.0036	0.0290	0.0002	0.0009	0.0022	0.0009	0.0027684	428	154602	rs3741379	0.0017	0.0017	0.0018	0.0017	0.0488	0.0017	0.0017	0.0470	0.0462	2.987e-05	0.0032	0.0028	0.0488	0.0001	0.0010	0.0002	0.0020	0.0010	0.0013	0.0013	0.0012	0.0014	0.0270	0.0011	0.0011	0.0234	0.0220	0.0001	0	0.0008	0.0012	0.0270	0.0002	0	0.0003	0.0024	0.0017	0.888	0.02936	T	0.724	0.05274	T	0.0	0.02946	B	0.001	0.04355	B	0.914232	0.07435	U	1.072180	1	0.08975	N	0.895	0.22405	L	-1.5	0.81318	D	0.08	0.06026	N	0.061	0.03841	-0.9127	0.46518	T	0.068	0.27879	T	10	0.0018219054	0.00024	T	.	.	.	0.163	0.42028	.	.	0.338110398507	0.33423	0.18452731736695727	0.18370	0.559759915972	0.52515	0.464509427547	0.33928	T	0.067588	0.37001	T	-0.568527	0.00226	T	-0.534354	0.18854	T	0.00936351086384048	0.00120	T	0.60234	0.22547	T	0.050319865	0.09072	0.036024895	0.02968	0.050319865	0.09071	0.036024895	0.02968	-4.149	0.26009	T	.	.	0.075	0.05845	B	.;.;.	.;.;.	0.157044	0.05482	1.949	0.94820901500658761	0.25591	0.05466	0.11346	N	AEFDGBCI	0.097573	0.19676	N	-1.20183191334562	0.04973	0.2256599	-1.20453069710389	0.05836	0.279234	0.999999986783029	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.688494	0.62686	0	0.735409	0.98432	0	.	.	5.05	-5.2	0.02608	-0.309000	0.08185	0.523000	0.19181	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.6539:0.0:0.1255:0.2206	7.311	0.25649	274	0.89249	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1325.33	33	chr11	65641237	.	G	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.763;DP=730;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.535;SOR=0.861	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1339,0,1589	18	0	1	0
chr11	66315700	66315702	GAG	-	exonic	CD248	.	nonframeshift deletion	CD248:NM_020404:exon1:c.1326_1328del:p.S443del	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0044	9.619e-05	0.0178	0.0300	0.0002	0.0008	0.0011	0.0010	0.0004995	13	26028	rs3832786	0.0017	0.0017	0.0017	0.0017	0.0339	0.0016	0.0016	0.0324	0.0318	8.964e-05	0.0132	0.0012	0.0339	0.0001	0.0014	0.0002	0.0016	0.0013	0.0018	0.0018	0.0016	0.0019	0.0281	0.0016	0.0015	0.0244	0.0230	0.0002	0	0.0050	0.0003	0.0281	0.0002	0	0.0003	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	691.29	33	chr11	66315699	.	TGAG	T	691.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=936;ExcessHet=0;FS=6.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.53;SOR=1.586	GT:AD:DP:GQ:PL	0/1:31,19:50:99:705,0,1244	18	0	1	0
chr11	66599488	66599488	G	A	exonic	CCS	.	nonsynonymous SNV	CCS:NM_005125:exon4:c.G280A:p.G94R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.108864898278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.155e-07	1.368e-06	0	1.448e-06	2.608e-05	0	0	.	.	0	0	0	2.608e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.292	0.20877	T	0.31	0.32798	B	0.123	0.32463	B	0.113761	0.19303	N	0.563043	0.896714	0.28192	N	0.335	0.10427	N	-6.03	0.99497	D	-2.43	0.53258	N	0.269	0.30461	0.740	0.93667	D	0.902	0.96735	D	10	0.29310113	0.46885	T	0.108865	0.78559	D	0.398	0.71242	0.614	0.74768	0.943378736377	0.94279	0.5626494622011682	0.56191	0.367662693662	0.38331	0.459764808416	0.33277	T	0.330623	0.70079	T	0.0696124	0.60801	D	-0.137783	0.60309	T	0.291108129713143	0.24636	T	0.950705	0.81652	D	0.14935452	0.34053	0.07692328	0.17085	0.14935452	0.34053	0.07692328	0.17084	-7.226	0.55668	T	.	.	0.153	0.33958	B	.;.	.;.	2.616096	0.33986	19.50	0.9168228197546977	0.20974	0.77598	0.38172	D	AEFBI	0.553157	0.56453	D	-0.307626492570936	0.28858	1.595262	-0.20003160756683	0.31536	1.785636	0.750397750656459	0.23351	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	1.709000	0.37528	9.903000	0.82365	0.676000	0.76740	0.796000	0.29669	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	14.164	0.65000	62	0.97349	Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	599.33	36	chr11	66599488	.	G	A	599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.156;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-1.309;SOR=0.758	GT:AD:DP:GQ:PL	0/1:40,25:65:99:613,0,1224	18	0	1	0
chr11	66975600	66975600	C	T	exonic	C11orf86	.	stopgain	C11orf86:NM_001136485:exon1:c.C238T:p.R80X,C11orf86:NM_001353554:exon1:c.C238T:p.R80X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212881560	1.573e-05	1.505e-05	1.269e-05	1.884e-05	2.806e-05	1.03e-05	8.79e-06	1.126e-05	9.08e-06	0	2.806e-05	0	2.798e-05	0	0	1.761e-05	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496276	0.05065	N	1.309580	0.999771	0.48980	D	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275118	0.80893	D	0.157412	0.80647	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.045914	0.94427	34	0.95984682292340762	0.28368	0.04004	0.09429	N	AEFDGBCI	0.070541	0.14008	N	-0.213031439809411	0.32598	1.840142	-0.551202559146018	0.20774	1.120811	0.999997957111262	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.95	0.307	0.15057	0.542000	0.22930	0.607000	0.19990	-0.235000	0.07621	0.003000	0.16062	0.002000	0.18203	0.200000	0.21896	0.5923:0.4077:0.0:0.0	12.024	0.52656	170	0.93412	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	35	chr11	66975600	.	C	T	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.249;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,24:58:99:609,0,874	18	0	1	0
chr11	67393789	67393789	C	T	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon2:c.C220T:p.R74W,RAD9A:NM_004584:exon5:c.C448T:p.R150W	.	.	.	.	.	.	.	.	0.0002	0.128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0573097356564	.	0.000199681	0.0001	0.0002	0.0003	0.0002	0	7.66e-05	0	9.063e-05	0.0001035	16	154602	rs193060554	0.0002	0.0002	0.0002	0.0002	0.0020	0.0001	0.0001	0.0010	0.0008	0.0001	6.81e-05	0	0	0	0.0020	0.0002	0.0001	2.361e-05	5.907e-05	5.905e-05	8.993e-05	2.684e-05	0.0001	3.074e-05	2.208e-05	3.762e-05	2.575e-05	2.405e-05	0	0.0001	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999254	0.46462	D	2.91	0.84121	M	1.34	0.34841	T	-7.23	0.94300	D	0.675	0.68255	-0.6670	0.61964	T	0.211	0.57081	T	10	0.4645886	0.59492	T	0.05731	0.66920	D	0.304	0.62510	.	.	0.564243864375	0.56087	0.6895625308660523	0.68896	0.587335338042	0.54318	0.558472752571	0.47053	T	0.420355	0.77209	T	-0.172769	0.24817	T	-0.270612	0.47758	T	0.687701644622294	0.40142	D	0.926607	0.73035	D	0.89933026	0.91323	0.8508801	0.91562	0.89933026	0.91324	0.8508801	0.91563	-9.249	0.69286	D	.	.	0.207	0.43311	B	.;.	.;.	4.639765	0.73847	26.1	0.99886900564323078	0.96204	0.85849	0.45029	D	AEFGBI	0.614260	0.60164	D	0.284384659984197	0.55355	3.699777	0.129902097038544	0.46086	2.860408	0.999903120116235	0.45458	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.81	-0.0733	0.13068	0.312000	0.19147	2.551000	0.33264	0.599000	0.40250	0.979000	0.35152	0.972000	0.29809	0.979000	0.57723	0.3445:0.6555:0.0:0.0	12.035	0.52716	417	0.81662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002081	0.000000	0.001362	0.000000	0.000000	0.008621	0.003268	0.000000	0.02632	697.33	44	chr11	67393789	.	C	T	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=709;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.428;SOR=0.399	GT:AD:DP:GQ:PL	0/1:28,25:53:99:711,0,656	18	0	1	0
chr11	67396157	67396157	A	G	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon5:c.A488G:p.H163R,RAD9A:NM_004584:exon8:c.A716G:p.H239R	.	377	1140	5	0	0	5	0.00218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0002	0.00878594	0.0041	0	0.0180	0.0290	0	0.0003	0.0044	0.0008	0.0038745	599	154602	rs17880039	0.0016	0.0016	0.0017	0.0016	0.0320	0.0016	0.0016	0.0306	0.0300	0	0.0150	0.0011	0.0320	0	0.0007	0.0001	0.0029	0.0010	0.0019	0.0019	0.0019	0.0019	0.0266	0.0017	0.0016	0.0230	0.0216	9.627e-05	0	0.0076	0.0003	0.0266	0	0	0.0002	0.0024	0.0017	0.013	0.57480	D	0.025	0.56192	D	0.976	0.58310	D	0.781	0.57337	P	0.000001	0.84330	D	0.054913	0.999774	0.48980	D	1.98	0.53716	M	1.94	0.22678	T	-5.47	0.85617	D	0.599	0.61764	-1.1312	0.01726	T	0.019	0.07753	T	10	0.012375504	0.00266	T	.	.	.	0.182	0.45420	.	.	0.433157607263	0.42933	0.6383396809080554	0.63767	0.61141868815	0.55778	0.511258244514	0.40398	T	0.30689	0.67907	T	-0.366364	0.03782	T	-0.276721	0.47139	T	0.108839608017469	0.13303	T	0.877312	0.59062	D	0.89923567	0.91315	0.81037986	0.88924	0.89923567	0.91316	0.81037986	0.88925	-6.852	0.52945	T	.	.	0.152	0.33550	B	.;.	.;.	3.916758	0.57157	23.8	0.99293518885489607	0.58362	0.98104	0.79632	D	AEFGBHCI	0.781863	0.71332	D	0.467524088225863	0.65203	4.793211	0.461134167954659	0.65436	4.823469	0.999999996887679	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.636168	0.56350	0	.	.	4.64	4.64	0.57399	6.407000	0.73202	11.106000	0.86222	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	11.601	0.50263	417	0.81662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1123.33	37	chr11	67396157	.	A	G	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.457;SOR=0.698	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1137,0,1931	18	0	1	0
chr11	68158560	68158560	G	C	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1270G:p.Q424E,KMT5B:NM_001369430:exon10:c.C1270G:p.Q424E,KMT5B:NM_001300908:exon11:c.C1066G:p.Q356E,KMT5B:NM_001369426:exon11:c.C1786G:p.Q596E,KMT5B:NM_001369433:exon11:c.C1270G:p.Q424E,KMT5B:NM_017635:exon11:c.C1786G:p.Q596E,KMT5B:NM_001300907:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369428:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369431:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369432:exon12:c.C1270G:p.Q424E	.	414	1107	1	0	0	1	0.000451467	.	.	.	2348233	not_provided|KMT5B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.141	0.00696204585315	0.0005	0.000399361	0.0007	0.0002	0.0007	0	0.0015	0.0009	0.0022	0.0001	0.0005821	90	154602	rs187695236	0.0005	0.0005	0.0005	0.0006	0.0033	0.0005	0.0005	0.0022	0.0018	0.0002	0.0004	0.0015	0	0.0012	0.0033	0.0005	0.0005	6.956e-05	0.0005	0.0005	0.0006	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0003	0.0012	0	0.0009	0.0034	0.0008	0	0	0.147	0.24955	T	1.0	0.01155	T	.	.	.	.	.	.	0.601983	0.10949	N	0.831384	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.37	0.13226	N	0.053	0.04547	-1.1125	0.02864	T	0.043	0.18701	T	10	0.008837432	0.00200	T	0.006962	0.18430	T	0.141	0.37795	.	.	0.0675242888579	0.06100	0.06101839333726505	0.06041	0.260481724346	0.28615	0.264342725277	0.05419	T	.	.	.	-0.559625	0.00255	T	-0.632987	0.10190	T	0.0317035942687095	0.02258	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08081	B	.;.	.;.	1.646813	0.21016	15.01	0.87520610452587133	0.17286	0.97286	0.73800	D	AEFGBI	0.574906	0.57751	D	-0.504345083888058	0.21939	1.167976	-0.356894863522173	0.26297	1.451558	0.96995069884857	0.29169	0.706548	0.73137	0	0.653731	0.59785	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	7.305000	0.78209	7.962000	0.76007	0.526000	0.24426	0.994000	0.38300	1.000000	0.68203	0.583000	0.30967	0.0:0.0:0.8448:0.1552	13.581	0.61367	764	0.49969	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	3269.33	34	chr11	68158560	.	G	C	3269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=864;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.197;SOR=0.964	GT:AD:DP:GQ:PL	0/1:113,115:228:99:3283,0,3248	18	0	1	0
chr11	68158751	68158751	G	A	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1079T:p.S360L,KMT5B:NM_001369430:exon10:c.C1079T:p.S360L,KMT5B:NM_001300908:exon11:c.C875T:p.S292L,KMT5B:NM_001369426:exon11:c.C1595T:p.S532L,KMT5B:NM_001369433:exon11:c.C1079T:p.S360L,KMT5B:NM_017635:exon11:c.C1595T:p.S532L,KMT5B:NM_001300907:exon12:c.C1079T:p.S360L,KMT5B:NM_001369428:exon12:c.C1079T:p.S360L,KMT5B:NM_001369431:exon12:c.C1079T:p.S360L,KMT5B:NM_001369432:exon12:c.C1079T:p.S360L	.	425	1096	1	0	0	1	0.000455996	.	.	.	3203550	not_provided|KMT5B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	.	0.00279553	0.0013	0	0.0004	0.0161	0	4.496e-05	0	0.0007	0.0011772	182	154602	rs150905417	0.0005	0.0005	0.0005	0.0005	0.0141	0.0005	0.0005	0.0131	0.0128	0	0.0002	0	0.0141	0	0.0002	5.306e-05	0.0010	0.0008	0.0007	0.0007	0.0007	0.0008	0.0176	0.0006	0.0006	0.0147	0.0136	0	0	0.0007	0	0.0176	0	0	5.881e-05	0.0005	0.0012	0.251	0.17069	T	0.342	0.17910	T	.	.	.	.	.	.	0.132251	0.18594	N	0.594706	1	0.08975	N	.	.	.	0.72	0.50976	T	-1.87	0.43717	N	0.053	0.02658	-1.0652	0.10502	T	0.036	0.15596	T	10	0.0036820471	0.00068	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.06646069238613	0.06584	0.204442686565	0.22868	0.276907175779	0.07065	T	.	.	.	-0.618977	0.00112	T	-0.648269	0.09075	T	0.0242592002184262	0.01178	T	0.717928	0.33070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	1.377805	0.17886	13.43	0.99312258102054374	0.59055	0.32423	0.24582	N	AEFDGBI	0.197185	0.32411	N	-0.763247149514225	0.14276	0.7098151	-0.681404630482266	0.17426	0.9265441	0.268665748002198	0.18868	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.07	3.18	0.35615	1.797000	0.38438	2.431000	0.32730	0.526000	0.24426	0.020000	0.19661	0.041000	0.21590	0.901000	0.43729	0.1557:0.0:0.8443:0.0	10.752	0.45412	764	0.49969	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2734.33	34	chr11	68158751	.	G	A	2734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=856;ExcessHet=0;FS=4.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.841;SOR=0.993	GT:AD:DP:GQ:PL	0/1:118,103:221:99:2748,0,2982	18	0	1	0
chr11	72235425	72235425	G	A	exonic	INPPL1	.	nonsynonymous SNV	INPPL1:NM_001567:exon23:c.G2633A:p.R878H	Opsismodysplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2405482	Inborn_genetic_diseases|Opsismodysplasia	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009785,MedGen:C0432219,OMIM:258480,Orphanet:2746	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0187792447969	.	.	0.0001	0	0.0002	0	0	3.036e-05	0	0.0005	8.41e-05	13	154602	rs778999359	6.297e-05	6.293e-05	3.95e-05	8.667e-05	0.0008	5.231e-05	4.848e-05	0.0006	0.0006	0	4.474e-05	0	0	0	0	1.799e-05	4.969e-05	0.0008	7.226e-05	7.218e-05	6.427e-05	8.062e-05	0.0015	3.97e-05	3.127e-05	0.0007	0.0005	4.816e-05	0	0	0	0	0	0	2.941e-05	0	0.0015	0.01	0.58626	D	0.014	0.63918	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	0.99993	0.54805	D	1.905	0.50856	L	1.27	0.36146	T	-2.35	0.51968	N	0.778	0.77507	-0.8580	0.51406	T	0.176	0.52115	T	10	0.3947121	0.55143	T	0.018779	0.40954	T	0.159	0.41286	0.295	0.25881	0.366659145958	0.36277	0.7822260453062077	0.78173	1.91959159773	0.92981	0.686351537704	0.65181	T	0.651129	0.89415	D	-0.175277	0.24442	T	-0.125387	0.61356	T	0.366608560085297	0.27666	T	0.930207	0.74183	D	0.27064458	0.50136	0.17709553	0.40289	0.27064458	0.50136	0.17709553	0.40288	-9.48	0.71542	D	.	.	0.238	0.61973	B	.;.;.	.;.;.	5.223894	0.87673	29.3	0.9995958152865726	0.99994	0.97743	0.76812	D	AEFDGBCIJ	0.931282	0.91988	D	0.735279425959592	0.81943	7.642304	0.747208293961936	0.85946	8.735362	0.999999999999947	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	6.501000	0.73603	11.761000	0.95631	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.772	0.88406	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1055.33	40	chr11	72235425	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=739;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.189;SOR=1.161	GT:AD:DP:GQ:PL	0/1:52,39:91:99:1069,0,1429	18	0	1	0
chr11	72921844	72921844	A	G	exonic	FCHSD2	.	nonsynonymous SNV	FCHSD2:NM_014824:exon9:c.T812C:p.L271S	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0157151474916	0.0002	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0010	0.000194	30	154602	rs143760818	0.0001	0.0001	9.408e-05	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	8.968e-05	2.251e-05	0.0002	0	0	0.0002	9.367e-05	0.0001	0.0009	0.0001	0.0001	0.0002	0.0001	0.0010	9.737e-05	8.252e-05	0.0004	0.0003	2.406e-05	0	0	0.0003	0	0	0	0.0002	0	0.0010	0.502	0.08359	T	0.329	0.26306	T	0.998	0.77913	D	0.905	0.71005	P	0.000029	0.55875	D	0.073752	0.999968	0.52935	D	1.825	0.47900	L	2.52	0.14160	T	-0.81	0.22944	N	0.797	0.81459	-1.0993	0.04177	T	0.064	0.26349	T	10	0.30111825	0.47656	T	0.015715	0.36608	T	0.361	0.68141	.	.	0.762826085294	0.76066	0.6344885560362534	0.63382	0.95540662763	0.72788	0.683240532875	0.64734	T	0.037804	0.24611	T	-0.114295	0.34059	T	-0.00307426	0.70136	D	0.143607044685658	0.16582	T	0.90001	0.67605	D	0.08148927	0.18726	0.14753988	0.34911	0.08148927	0.18726	0.14753988	0.34910	-7.068	0.54529	T	.	.	0.208	0.58808	B	.;.;.;.;.	.;.;.;.;.	4.857569	0.79462	27.1	0.98231938592276979	0.39396	0.98701	0.85758	D	AEFDBI	0.902548	0.85056	D	0.566102245745396	0.71067	5.59507	0.615298504486103	0.76051	6.420195	0.999979819416166	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	5.88	5.88	0.94564	8.281000	0.89833	11.133000	0.86854	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.114	0.72062	824	0.40336	F-BAR domain;F-BAR domain;F-BAR domain;F-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1343.33	35	chr11	72921844	.	A	G	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=734;ExcessHet=0;FS=6.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.366;SOR=1.156	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1357,0,1215	18	0	1	0
chr11	77179856	77179856	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon21:c.G2489A:p.R830H,MYO7A:NM_001127180:exon21:c.G2489A:p.R830H,MYO7A:NM_001369365:exon22:c.G2456A:p.R819H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	2	1518	1	0	1	2	0.000329272	.	.	YES	188830	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.763	0.811260307901	0.0002	.	0.0002	0	0	0	0	0.0005	0	0	1.94e-05	3	154602	rs371029653	8.924e-05	9.098e-05	7.104e-05	0.0001	0.0018	7.584e-05	7.15e-05	0.0009	0.0007	9.503e-05	2.801e-05	0.0002	8.396e-05	0	0.0018	8.065e-05	0.0002	5.052e-05	5.912e-05	5.91e-05	3.853e-05	8.067e-05	0.0001	3.076e-05	2.209e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-1.07	0.90792	T	-4.84	0.81030	D	0.898	0.89800	1.011	0.97377	D	0.895	0.96502	D	10	0.8853041	0.87856	D	0.81126	0.98529	D	0.763	0.91962	.	.	0.980170538045	0.97995	0.7408404098777647	0.74029	0.517011498628	0.49580	0.726010084152	0.70924	T	0.461628	0.87342	T	0.175192	0.71601	D	0.283175	0.87297	D	0.954997599124908	0.64399	D	0.978902	0.92647	D	0.9237777	0.93617	0.83808684	0.90712	0.9237777	0.93618	0.83808684	0.90712	-10.765	0.79079	D	0.7406512574139558	0.82270	0.369	0.57769	A	.;.;.;.;.;.	.;.;.;.;.;.	5.771418	0.93478	33	0.99951715984014855	0.99951	0.99399	0.95529	D	AEFDBI	0.965401	0.98770	D	0.954188609860745	0.94150	12.53903	0.879717012673459	0.94626	12.910	0.999999999999116	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	9.993000	0.99245	11.777000	0.96009	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.155	0.93491	609	0.67094	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005143	0.000000	0.007987	0.003205	0.050000	0.010417	0.000000	0.004237	0.02632	1473.33	33	chr11	77179856	.	G	A	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=746;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.827;SOR=1.06	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1487,0,1452	18	0	1	0
chr11	82733626	82733626	C	G	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G104C:p.G35A	.	429	1071	21	1	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.417396448397	0.0024	0.00339457	0.0061	0.0007	0.0028	0	0.0090	0.0075	0.0034	0.0079	0.0039068	604	154602	rs144429777	0.0045	0.0045	0.0044	0.0046	0.0060	0.0044	0.0044	0.0056	0.0054	0.0005	0.0023	0.0024	0	0.0050	0.0038	0.0048	0.0040	0.0060	0.0034	0.0034	0.0033	0.0036	0.0070	0.0032	0.0031	0.0052	0.0045	0.0008	0	0.0028	0.0026	0	0.0055	0	0.0049	0.0028	0.0070	0.029	0.45756	D	0.21	0.26714	T	1.0	0.90584	D	0.945	0.68163	D	0.311877	0.14419	U	0.636557	0.984974	0.24753	N	0.55	0.14455	N	1.26	0.36330	T	-0.49	0.15578	N	0.223	0.25006	-1.0224	0.22932	T	0.144	0.46678	T	9	0.006408274	0.00145	T	0.417396	0.93723	D	0.147	0.38986	.	.	0.299427821978	0.29548	0.18883847741604054	0.18801	1.88529838353	0.92667	0.884383916855	0.94543	D	0.010327	0.09336	T	-0.432659	0.01429	T	-0.39165	0.34357	T	0.0196567047252055	0.00668	T	0.589941	0.21689	T	0.17208172	0.37880	0.23209776	0.48360	0.17208172	0.37879	0.23209776	0.48359	-3.368	0.14629	T	.	.	0.253	0.48746	B	.	.	4.509058	0.70594	25.5	0.98334174511956862	0.40368	0.72233	0.35363	D	AEFDGBHCI	0.193982	0.32108	N	0.244785644537766	0.53380	3.507256	0.166510638402176	0.48022	3.023998	0.999999956704001	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.04	4.04	0.46262	2.217000	0.42521	7.130000	0.57621	0.446000	0.21189	0.998000	0.41325	1.000000	0.68203	0.990000	0.65344	0.0:0.9066:0.0:0.0934	10.111	0.41732	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	1028.33	35	chr11	82733626	.	C	G	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.32;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.833;SOR=0.692	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1042,0,1284	18	0	1	0
chr11	88509366	88509366	G	C	exonic	GRM5	.	nonsynonymous SNV	GRM5:NM_000842:exon9:c.C2769G:p.S923R,GRM5:NM_001384268:exon9:c.C2769G:p.S923R,GRM5:NM_001143831:exon10:c.C2865G:p.S955R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.211227239201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.023	0.57104	D	0.589	0.39027	P	0.215	0.37512	B	0.000756	0.42006	D	0.294459	0.553412	0.81001	D	1.78	0.46185	L	-2.38	0.88847	D	-1.73	0.41046	N	0.239	0.38950	-0.2189	0.77180	T	0.554	0.83705	D	9	0.21343762	0.37835	T	0.211227	0.87294	D	0.539	0.80723	0.239	0.17065	0.705852965738	0.70329	0.6169724474375451	0.61629	.	.	0.765123605728	0.76694	T	0.199932	0.55735	T	0.185374	0.72537	D	0.0285008	0.72180	D	0.848348736763	0.50023	D	0.829117	0.49388	T	0.39000767	0.60033	0.45045152	0.68019	0.39000767	0.60033	0.45045152	0.68020	-4.38	0.29285	T	.	.	0.547	0.66670	A	.;.;.	.;.;.	3.792555	0.54594	23.5	0.99469126948110964	0.66259	0.92840	0.56674	D	AEFDBHCI	0.356251	0.44770	N	-0.055382213457745	0.39362	2.320009	0.0279358708015932	0.41016	2.45725	0.999986510833388	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	2.821000	0.47765	6.294000	0.55403	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0727:0.0:0.9273:0.0	14.181	0.65110	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3207.81	38	chr11	88509366	.	G	C	3207.81	.	AC=2;AF=0.053;AN=38;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.14;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3235,309,0	18	1	0	0
chr11	89798233	89798233	G	C	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.C1256G:p.T419S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0061691906019	.	.	0.0006	0	0.0004	0	0	0	0	0.0034	3.84e-05	1	26028	rs758579239	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0003	0	0	0	0	3.442e-05	0.0001	0.0027	9.785e-05	0.0001	4.695e-05	0.0002	0.0023	5.606e-05	4.409e-05	0.0012	0.0009	0	0	0.0002	0	0	0	0	1.656e-05	0	0.0023	0.863	0.06779	T	0.756	0.07368	T	0.001	0.07471	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	1.915	0.51223	L	-0.42	0.69536	T	-0.77	0.21429	N	0.056	0.06322	-0.9451	0.41797	T	0.191	0.54330	T	8	0.024606168	0.00683	T	0.006169	0.16170	T	0.078	0.22779	0.455	0.51938	0.0934897674506	0.08844	0.03727013423701432	0.03674	1.10741529894	0.77938	0.435110449791	0.29908	T	0.006775	0.06199	T	-0.566878	0.00231	T	-0.590736	0.13603	T	0.0173074851716926	0.00470	T	0.0806919	0.00751	T	0.056763813	0.11210	0.053675715	0.09086	0.056763813	0.11210	0.053675715	0.09086	-5.371	0.40640	T	.	.	0.179	0.39064	B	.;.	.;.	-0.778027	0.01151	0.054	0.23255279939153828	0.00974	0.00160	0.00956	N	AEFI	0.025739	0.01815	N	-1.39109188770268	0.02721	0.1205482	-1.5450156243789	0.02010	0.09186255	1.86549095903962E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.68	0.07773	-1.865000	0.01741	-20.000000	0.00162	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5926:0.4074:0.0	6.580	0.21783	834	0.38640	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	.	.	.	.	.	.	.	.	0.05263	3812.81	39	chr11	89798233	.	G	C	3812.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.409;DP=745;ExcessHet=0;FS=2.582;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=43.31;MQRankSum=2.46;QD=30.26;ReadPosRankSum=-2.281;SOR=0.249	GT:AD:DP:GQ:PL	1/1:3,123:126:99:3840,289,0	18	1	0	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	633.1	51	chr11	90086558	.	G	C	633.1	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.591;DP=741;ExcessHet=1.3;FS=178.578;InbreedingCoeff=-0.305;MLEAC=7;MLEAF=0.292;MQ=33.5;MQRankSum=-1.725;QD=3.88;ReadPosRankSum=1.32;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,8:25:26:.:.:26,0,397:.	7	0	5	7
chr11	92799891	92799891	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A6878G:p.N2293S,FAT3:NM_001367949:exon10:c.A6878G:p.N2293S	.	432	1046	40	4	0	48	0.0224299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0031	0.0267572	0.0200	0.0012	0.0284	0.0893	0.0168	0.0060	0.0245	0.0477	0.0170955	2643	154602	rs16918105	0.0092	0.0092	0.0082	0.0103	0.0860	0.0091	0.0090	0.0835	0.0826	0.0008	0.0230	0.0085	0.0860	0.0169	0.0071	0.0030	0.0128	0.0438	0.0099	0.0099	0.0084	0.0114	0.0771	0.0094	0.0093	0.0709	0.0684	0.0008	0	0.0163	0.0092	0.0771	0.0182	0.0272	0.0050	0.0085	0.0478	0.717	0.03961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796511	0.35047	D	-0.57	0.02306	N	0.81	0.48460	T	-0.58	0.17834	N	0.111	0.09772	-1.1001	0.04079	T	0.003	0.00800	T	9	0.0024277866	0.00036	T	.	.	.	0.070	0.20419	.	.	.	.	0.1229800749931978	0.12224	.	.	0.363619148731	0.19911	T	0.052076	0.29059	T	-0.672201	0.00053	T	-0.669802	0.07621	T	0.0112892504554269	0.00167	T	.	.	.	0.060208857	0.12327	0.07800317	0.17431	0.060208857	0.12327	0.07800317	0.17431	-4.076	0.24935	T	.	.	0.067	0.02399	B	.;.	.;.	2.029796	0.25795	16.89	0.66716581538814834	0.08140	0.85681	0.44840	D	AEFBI	0.147834	0.27159	N	-0.428568019365119	0.24473	1.321624	-0.177534942700834	0.32364	1.840586	0.0816051240587771	0.15878	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.94	4.83	0.61880	3.427000	0.52552	5.408000	0.48530	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9306:0.0:0.0694:0.0	11.484	0.49590	906	0.23090	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	0.015106	0.000000	0.006793	0.008772	0.050000	0.008621	0.012195	0.030303	0.05263	9730.81	163	chr11	92799891	.	A	G	9730.81	.	AC=2;AF=0.053;AN=38;DP=2648;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.33;SOR=0.842	GT:AD:DP:GQ:PL	1/1:0,301:301:99:9758,903,0	18	1	0	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C,CFAP300:NM_032930:exon7:c.C754T:p.R252C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	317.84	97	chr11	102083149	.	C	T	317.84	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.3;DP=944;ExcessHet=0.7564;FS=421.434;InbreedingCoeff=-0.1244;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.71;SOR=9.401	GT:AD:DP:GQ:PL	0/1:40,26:66:99:134,0,410	15	0	4	0
chr11	102714558	102714558	C	T	exonic	MMP8	.	stopgain	MMP8:NM_002424:exon8:c.G1188A:p.W396X,MMP8:NM_001304441:exon9:c.G1119A:p.W373X,MMP8:NM_001304442:exon9:c.G1119A:p.W373X	.	.	.	.	.	.	.	.	0.9490	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-05	0	8.929e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs756531800	8.399e-06	8.209e-06	6.039e-06	1.081e-05	0.0002	4.51e-06	3.29e-06	9.88e-05	7.619e-05	0	0	0	0	0	0	0	0	0.0002	6.591e-06	6.571e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000046	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.845	0.84090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425273	0.91292	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.597847	0.99116	42	0.99682650304152387	0.79373	0.97711	0.76584	D	AEFBI	0.720821	0.67126	D	0.852709674646128	0.89262	9.900129	0.741565436985981	0.85527	8.606864	0.908391171062602	0.26284	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	5.435000	0.66282	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.398	0.94609	703	0.57489	Hemopexin-like 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	.	.	.	.	.	.	.	.	0.05263	1197.81	33	chr11	102714558	.	C	T	1197.81	.	AC=2;AF=0.053;AN=38;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.67	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1225,114,0	18	1	0	0
chr11	117208910	117208910	G	C	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon13:c.C1678G:p.R560G	.	417	1091	14	0	0	14	0.00637523	.	.	.	1053638	Midline_facial_cleft|Pericallosal_lipoma|Skin_tags|not_provided	Human_Phenotype_Ontology:HP:0100629,MedGen:C4022007,Orphanet:141234|Human_Phenotype_Ontology:HP:0006931,MONDO:MONDO:0003845,MedGen:C1333160|Human_Phenotype_Ontology:HP:0010609,MONDO:MONDO:0004026,MedGen:C0037293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.712	.	.	.	0.0104	0.0102	0.0063	0.0233	0.0130	0.0082	0.0066	0.0169	0.0093401	1444	154602	rs202038275	0.0005	0.0059	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0004	0.0002	0.0007	0.0008	0.0004	0.0010	0.0004	0.0004	0.0009	0.0002	0.0027	0.0002	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0001	0.0003	0.0002	0.0002	0	0.0002	0	0.0011	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	4.15	0.97575	H	-0.55	0.71068	T	-6.31	0.90812	D	0.912	0.91391	0.011	0.82473	D	0.513	0.81738	D	10	0.042326003	0.02971	T	.	.	.	0.712	0.89741	.	.	.	.	0.8736943716652924	0.87335	1.64757782107	0.89487	0.451385378838	0.32133	T	0.388708	0.74932	T	-0.104841	0.35621	T	0.0723236	0.75066	D	0.13287039981862	0.15645	T	0.915808	0.69967	D	0.7359446	0.80061	0.62001324	0.77867	0.7359446	0.80062	0.62001324	0.77868	-12.782	0.88445	D	.	.	0.995	0.95383	P	.;.	.;.	4.809372	0.78220	26.9	0.9956249385700201	0.71892	0.79667	0.39522	D	AEFDGHCIJ	0.536942	0.55495	D	0.24201170545192	0.53246	3.494293	0.118380887668995	0.45490	2.811167	0.999989991100952	0.51787	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.68	3.77	0.42499	1.994000	0.40377	9.944000	0.82678	-0.168000	0.11412	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0864:0.0:0.7545:0.1591	7.886	0.28816	645	0.63593	P domain|P domain;P domain|P 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	0.028701	0.025253	0.019022	0.052632	0.100000	0.051724	0.006098	0.037879	0.02632	148.35	34	chr11	117208910	.	G	C	148.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.331;DP=777;ExcessHet=0;FS=8.74;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=56.49;MQRankSum=-8.076;QD=1.93;ReadPosRankSum=-0.521;SOR=1.302	GT:AD:DP:GQ:PL	0/1:62,15:77:99:162,0,1600	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	0/1:25,30:55:99:1129,0,955	11	2	6	0
chr12	869088	869088	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_001184985:exon9:c.C3362G:p.S1121C,WNK1:NM_213655:exon10:c.C3617G:p.S1206C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	3	1518	1	0	0	1	0.000329272	.	.	.	1048139	Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0245555858015	.	.	8.291e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs771730773	1.916e-05	1.915e-05	2.178e-05	1.65e-05	2.987e-05	1.328e-05	1.144e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0	2.428e-05	0	0	1.314e-05	1.313e-05	0	2.689e-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	0.065	0.92824	T	.	.	.	.	.	.	.	.	.	.	0.842434	0.81001	D	.	.	.	2.22	0.18248	T	-2.17	0.49018	N	0.353	0.43995	-1.0923	0.05159	T	0.117	0.41187	T	8	0.22407314	0.39201	T	0.024556	0.47547	T	0.123	0.34020	0.243	0.17677	0.187035705434	0.18338	0.06978577751246809	0.06916	.	.	0.416379570961	0.27339	T	.	.	.	-0.231448	0.16458	T	-0.388708	0.34704	T	0.62221223115921	0.37296	D	0.811819	0.47234	T	.	.	.	.	.	.	.	.	-7.725	0.59181	D	.	.	0.162	0.35746	B	.;.;.;.;.	.;.;.;.;.	2.685064	0.35034	19.79	0.9881878991343428	0.46753	0.91125	0.52909	D	AEFBHCI	0.571236	0.57530	D	0.637734696636939	0.75576	6.330663	0.657116523347729	0.79140	7.020222	0.999998303446751	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	4.644000	0.61092	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.119	0.89494	597	0.68309	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1792.33	33	chr12	869088	.	C	G	1792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.933;DP=796;ExcessHet=0;FS=5.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.297;SOR=1.097	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1806,0,2474	18	0	1	0
chr12	1953157	1953157	-	TGCTGC	exonic	DCP1B	.	nonframeshift insertion	DCP1B:NM_152640:exon7:c.782_783insGCAGCA:p.Q261_E262insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0010	0.0017	0.0047	0	0.0016	0	0.0058	0.0004226	11	26028	rs149912567	0.0016	0.0016	0.0015	0.0018	0.0082	0.0016	0.0016	0.0075	0.0072	0.0015	0.0014	3.951e-05	0.0082	0.0003	0.0009	0.0012	0.0023	0.0051	0.0015	0.0015	0.0014	0.0015	0.0040	0.0013	0.0012	0.0026	0.0022	0.0014	0	0.0015	0.0003	0.0034	9.79e-05	0	0.0014	0.0029	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	28312.7	44	chr12	1953157	.	T	TTGCTGC	28312.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.206;DP=1545;ExcessHet=0.0026;FS=0.657;InbreedingCoeff=0.5682;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=31.42;ReadPosRankSum=0.239;SOR=0.632	GT:AD:DP:GQ:PL	0/1:4,40:88:99:3453,1639,1665	18	0	1	0
chr12	5994429	5994429	G	A	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon36:c.C6242T:p.T2081M	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3338799	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	0.0234382239201	7.7e-05	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs368207430	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0002	2.478e-05	2.22e-05	2.995e-05	2.305e-05	2.987e-05	0	0	0	0	0.0002	3.507e-05	0	6.956e-05	6.572e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.366	0.11696	T	0.32	0.19131	T	0.164	0.28467	B	0.049	0.25116	B	0.378588	0.13422	N	0.662648	0.999998	0.08975	N	1.025	0.25523	L	-0.35	0.68616	T	-2.71	0.57762	D	0.24	0.27077	-1.0432	0.16354	T	0.149	0.47505	T	10	0.35249507	0.52076	T	0.023438	0.46400	T	0.187	0.46274	.	.	0.47432691512	0.47060	0.7701468375108547	0.76963	0.280192948773	0.30498	0.249874025583	0.03754	T	0.449681	0.79109	T	-0.0827611	0.39263	T	-0.356657	0.38440	T	0.181710675358772	0.19343	T	0.606339	0.22814	T	0.0350214	0.04044	0.0979802	0.23343	0.0350214	0.04044	0.0979802	0.23343	-7.361	0.56629	T	0.16154453567252566	0.19784	0.062	0.01290	B	.	.	-0.509867	0.01836	0.146	0.39555278548315181	0.02736	0.05630	0.11539	N	AEFGBCI	0.143725	0.26650	N	-1.46422396376884	0.02107	0.09270922	-1.55087224267752	0.01970	0.08996739	0.997789810157631	0.36027	0.67177	0.52595	0	0.563428	0.19063	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.91	-5.64	0.02269	-0.215000	0.09284	-0.163000	0.11303	-1.494000	0.01041	0.001000	0.13787	0.000000	0.08366	0.031000	0.13245	0.3556:0.0:0.6444:0.0	15.121	0.72119	936	0.14734	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1740.33	37	chr12	5994429	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.814;SOR=0.675	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1754,0,1156	18	0	1	0
chr12	6029365	6029365	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon22:c.G2944C:p.V982L	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4011434	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.106100374593	7.7e-05	.	2.475e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs376548659	3.147e-05	3.147e-05	2.722e-05	3.575e-05	3.957e-05	2.412e-05	2.157e-05	2.999e-05	2.671e-05	0	0	0	0	0	0	3.957e-05	3.311e-05	0	2.629e-05	2.627e-05	2.569e-05	2.691e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.086	0.32610	T	0.01	0.65728	D	0.948	0.53620	P	0.794	0.57880	P	0.003340	0.35096	N	0.000000	0.999828	0.49512	D	2.15	0.60148	M	0.13	0.60973	T	-1.65	0.39503	N	0.544	0.57092	-0.6178	0.64080	T	0.261	0.63186	T	10	0.6832323	0.71406	D	0.106	0.78153	D	0.341	0.66297	0.62	0.75461	0.592685350901	0.58946	0.8359418656330972	0.83554	0.716451841279	0.61991	0.51848590374	0.41412	T	0.33906	0.70825	T	-0.123705	0.32520	T	-0.259105	0.48914	T	0.522292852401733	0.33450	D	0.844016	0.52137	T	0.48072296	0.65944	0.14383043	0.34169	0.48072296	0.65944	0.14383043	0.34168	-5.047	0.37346	T	0.3000377559728855	0.39734	0.217	0.44656	B	.	.	3.045387	0.40845	21.2	0.9954109849801539	0.70523	0.93885	0.59473	D	AEFBCI	0.741790	0.68561	D	0.343163753696051	0.58380	4.009804	0.281545025948107	0.54463	3.611149	0.998972915642336	0.38110	0.722319	0.85440	0	0.59043	0.45803	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	4.023000	0.56921	4.809000	0.45027	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.005000	0.06747	0.0:0.9135:0.0:0.0865	12.061	0.52858	929	0.16858	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.02632	1550.33	35	chr12	6029365	.	C	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.171;DP=793;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.23;SOR=0.836	GT:AD:DP:GQ:PL	0/1:64,69:133:99:1564,0,1342	18	0	1	0
chr12	7108350	7108350	G	T	exonic	C1RL	.	nonsynonymous SNV	C1RL:NM_001297640:exon2:c.C201A:p.S67R,C1RL:NM_001297642:exon2:c.C201A:p.S67R,C1RL:NM_001297643:exon2:c.C201A:p.S67R,C1RL:NM_016546:exon2:c.C201A:p.S67R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00391692826457	.	.	5.784e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs534316475	1.779e-05	1.779e-05	1.497e-05	2.063e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0002	0	0	0	0	0	0	0	4.967e-05	0.0003	6.562e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.173	0.41637	T	0.209	0.70582	T	0.995	0.77913	D	0.924	0.84481	D	0.002872	0.35804	N	0.234793	1	0.18198	N	1.445	0.36358	L	2.25	0.17761	T	-2.9	0.60827	D	0.418	0.60241	-1.1320	0.01689	T	0.064	0.26491	T	10	0.14628944	0.27738	T	0.003917	0.09242	T	0.146	0.38789	0.621	0.75576	0.298056030225	0.29408	0.5268523053524182	0.52609	0.269640530284	0.29486	0.400819808245	0.25182	T	0.091094	0.38725	T	-0.356789	0.04315	T	-0.407548	0.32507	T	0.459288477897644	0.31139	T	0.707729	0.31835	T	0.24620199	0.47586	0.29731083	0.55764	0.24620199	0.47586	0.29731083	0.55763	-5.566	0.42481	T	.	.	0.253	0.67681	B	.;.;.;.	.;.;.;.	2.278539	0.29133	18.02	0.9923506278299814	0.56342	0.24855	0.22522	N	ALL	0.251991	0.37176	N	-0.0470053332560804	0.39737	2.348161	-0.227380292453927	0.30559	1.72167	0.999999999995623	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.25	2.22	0.27116	1.368000	0.33820	0.868000	0.22289	0.676000	0.76740	0.161000	0.23811	0.017000	0.20586	0.029000	0.12982	0.111:0.2017:0.6873:0.0	5.560	0.16421	646	0.63441	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	971.33	33	chr12	7108350	.	G	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.58;SOR=0.707	GT:AD:DP:GQ:PL	0/1:37,35:72:99:985,0,953	18	0	1	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	.	.	.	3547150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	0.013388	0.027174	0.010959	0.017647	0.000000	0.035088	0.006289	0.015267	0.02632	266.33	34	chr12	7130691	.	G	T	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.538;SOR=0.633	GT:AD:DP:GQ:PL	0/1:43,14:57:99:280,0,1148	18	0	1	0
chr12	7819542	7819542	-	ATAT	exonic	SLC2A14	.	frameshift insertion	SLC2A14:NM_001286236:exon8:c.752_753insATAT:p.M251Ifs*26,SLC2A14:NM_001286237:exon8:c.1124_1125insATAT:p.M375Ifs*26,SLC2A14:NM_001286234:exon9:c.1010_1011insATAT:p.M337Ifs*26,SLC2A14:NM_153449:exon10:c.1079_1080insATAT:p.M360Ifs*26,SLC2A14:NM_001286235:exon11:c.1010_1011insATAT:p.M337Ifs*26,SLC2A14:NM_001286233:exon14:c.1079_1080insATAT:p.M360Ifs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1632.29	39	chr12	7819542	.	C	CATAT	1632.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.632;DP=739;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.82;MQRankSum=-0.035;QD=20.15;ReadPosRankSum=1.01;SOR=0.97	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1646,0,1453	18	0	1	0
chr12	9694852	9694852	C	T	exonic	CLEC2D	.	nonsynonymous SNV	CLEC2D:NM_001197317:exon4:c.C443T:p.S148F,CLEC2D:NM_013269:exon5:c.C554T:p.S185F	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00198225310025	0.0018	0.000798722	0.0013	0	0.0007	0	0.0002	0.0019	0.0011	0.0012	0.0011902	184	154602	rs138893047	0.0015	0.0015	0.0015	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0005	0.0006	0	0	0.0012	0.0014	0.0017	0.0015	0.0011	0.0009	0.0009	0.0011	0.0007	0.0017	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0004	0	0	0.0006	0	0.0017	0.0009	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.97	0.85306	M	2.22	0.19726	T	-4.62	0.79399	D	0.37	0.54496	-0.9720	0.36776	T	0.131	0.44268	T	8	0.018050194	0.00389	T	0.001982	0.03562	T	0.107	0.30369	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.111177	0.42646	T	-0.424577	0.01600	T	-0.389915	0.34562	T	0.108178193634153	0.13234	T	0.793521	0.46129	T	0.48806635	0.66387	0.54046744	0.73441	0.48806635	0.66388	0.54046744	0.73442	-9.672	0.71925	D	.	.	0.718	0.75067	P	.;.	.;.	2.242299	0.28638	17.86	0.9827880711411956	0.39833	0.03222	0.08230	N	AEFDGBCI	0.041298	0.06261	N	-0.604787235897621	0.18799	0.9789416	-0.939106395409881	0.11177	0.5678066	0.273828976770024	0.18919	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.74	-3.52	0.04383	-1.107000	0.03427	-6.798000	0.01303	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.1087:0.3693:0.5221:0.0	9.892	0.40467	886	0.28090	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	817.33	35	chr12	9694852	.	C	T	817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.664;DP=711;ExcessHet=0;FS=4.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.175;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,34:80:99:831,0,1158	18	0	1	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	486.94	33	chr12	10407787	.	G	A	486.94	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.302;DP=1788;ExcessHet=0.7564;FS=121.428;InbreedingCoeff=-0.1345;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.177;SOR=10.853	GT:AD:DP:GQ:PL	0/1:124,66:190:99:276,0,1650	14	0	4	1
chr12	10433940	10433940	G	A	exonic	KLRC2	.	nonsynonymous SNV	KLRC2:NM_002260:exon4:c.C334T:p.R112C	.	496	1025	1	0	0	1	0.000487567	.	.	.	2778510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00115915523723	0.0002	0.000199681	4.384e-05	0.0001	0	0.0001	0	4.738e-05	0	0	0.0001153	3	26028	rs373440622	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.252e-05	4.635e-05	0	0	0	0	0.0002	8.676e-05	1.199e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.736e-05	7.196e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0003	0	0	0.216	0.19782	T	0.222	0.72224	T	.	.	.	.	.	.	0.087030	0.02415	N	1.882220	1	0.08975	N	.	.	.	3.53	0.17271	T	0.74	0.02038	N	0.205	0.23758	-1.0215	0.23227	T	0.017	0.06902	T	9	0.040109694	0.02824	T	0.001159	0.01459	T	0.011	0.01250	.	.	0.124217242631	0.12060	0.22205922519808463	0.22120	0.42459538528	0.42886	.	.	.	.	.	.	-0.60291	0.00140	T	-0.839387	0.01108	T	0.0157935500101135	0.00368	T	0.466753	0.13720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.32517	B	.;.;.;.	.;.;.;.	0.381771	0.07536	4.186	0.38001407287067851	0.02537	0.00085	0.00571	N	AEFBI	0.017922	0.00505	N	-1.52105792783596	0.01711	0.07490815	-1.57660220412722	0.01799	0.08190094	1.04486277970265E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.98	-3.11	0.04975	-1.167000	0.03236	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5319:0.2044:0.2637:0.0	3.415	0.06945	872	0.31118	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	459.05	33	chr12	10433940	.	G	A	459.05	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.195;DP=1912;ExcessHet=0.7564;FS=143.191;InbreedingCoeff=-0.1382;MLEAC=3;MLEAF=0.088;MQ=54.1;MQRankSum=-0.3;QD=0.54;ReadPosRankSum=0.701;SOR=10.787	GT:AD:DP:GQ:PL	0/1:202,83:285:99:331,0,3124	13	0	4	2
chr12	10449386	10449386	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_007328:exon4:c.C286T:p.R96C,KLRC1:NM_002259:exon5:c.C340T:p.R114C,KLRC1:NM_213657:exon5:c.C286T:p.R96C,KLRC1:NM_001304448:exon6:c.C340T:p.R114C,KLRC1:NM_213658:exon6:c.C340T:p.R114C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00155260095507	7.7e-05	.	1.65e-05	0	8.637e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs376062790	9.587e-06	9.577e-06	9.538e-06	9.636e-06	0.0001	5.56e-06	4.35e-06	5.857e-05	3.763e-05	0.0001	6.743e-05	0	2.522e-05	0	0	4.499e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	4.83e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.217	0.25457	T	0.213	0.31427	T	0.0	0.02946	B	0.001	0.04355	B	0.080989	0.02354	N	1.909130	1	0.08975	N	-1.355	0.00654	N	3.53	0.04852	T	0.6	0.08971	N	0.119	0.13198	-0.9498	0.41006	T	0.009	0.03271	T	10	0.03999743	0.06302	T	0.001553	0.02445	T	0.027	0.05988	.	.	0.319114376414	0.31517	0.24495739834091534	0.24409	0.0451516136419	0.04887	0.255999237299	0.04425	T	0.069055	0.33613	T	-0.499642	0.00574	T	-0.872612	0.00718	T	0.0415094815167737	0.03965	T	0.188781	0.07446	T	0.21267043	0.43626	0.07341309	0.15950	0.21267043	0.43626	0.07341309	0.15950	0.887	0.19880	T	.	.	0.086	0.26576	B	.;.;.;.;.	.;.;.;.;.	0.583094	0.09517	6.293	0.47962006325882134	0.03964	0.00052	0.00397	N	AEFGI	0.024263	0.01474	N	-1.58834710164732	0.01323	0.0576488	-1.56553878378651	0.01871	0.0852886	8.0433383802193E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	-1.09	0.09397	-0.085000	0.11215	-5.319000	0.01763	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6854:0.0:0.3146:0.0	7.960	0.29225	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	487.83	37	chr12	10449386	.	G	A	487.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.074;DP=1375;ExcessHet=0.119;FS=161.765;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=58.78;MQRankSum=1.91;QD=0.85;ReadPosRankSum=1.9;SOR=10.2	GT:AD:DP:GQ:PL	0/1:204,92:296:99:413,0,3010	17	0	2	0
chr12	11186920	11186920	G	-	exonic	TAS2R42	.	frameshift deletion	TAS2R42:NM_181429:exon1:c.18delC:p.D6Efs*5	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.38e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs754349642	3.016e-05	3.078e-05	1.635e-05	4.412e-05	0.0004	2.286e-05	2.036e-05	0.0003	0.0002	0	2.239e-05	0	0	0	0	6.306e-06	8.289e-05	0.0004	6.698e-06	6.572e-06	0	1.376e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1024.29	40	chr12	11186919	.	TG	T	1024.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.07;DP=936;ExcessHet=0;FS=5.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.347;SOR=1.449	GT:AD:DP:GQ:PL	0/1:40,32:72:99:1038,0,1377	18	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	28882.6	63	chr12	11353413	.	G	*	28882.6	.	AC=4;AF=0.143;AN=28;BaseQRankSum=1.73;DP=5063;ExcessHet=0.0911;FS=8.727;InbreedingCoeff=0.2733;MLEAC=5;MLEAF=0.179;MQ=50.96;MQRankSum=0.41;QD=14.59;ReadPosRankSum=0.493;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,164:478:99:0|1:11353385_GC_*:4167,0,11032:11353385	11	1	2	5
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	14621.9	35	chr12	11353469	.	A	*	14621.9	.	AC=5;AF=0.192;AN=26;BaseQRankSum=1.62;DP=4329;ExcessHet=0.3267;FS=13.408;InbreedingCoeff=0.1767;MLEAC=7;MLEAF=0.269;MQ=52.52;MQRankSum=-1.782;QD=11.97;ReadPosRankSum=-0.315;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,164:478:99:0|1:11353385_GC_*:4167,0,11032:11353385	10	2	1	6
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15923.7	37	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	15923.7	.	AC=6;AF=0.25;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:2,94:273:99:.:.:6867,3554,3530:.	8	2	2	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	15923.7	37	chr12	11353474	.	C	*	15923.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,177:273:99:.:.:6867,3279,5897:.	9	2	1	7
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,36:67:99:.:.:1415,0,1169:.	14	0	5	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:113,16:129:29:29,0,3276	13	0	6	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,20:71:17:.:.:17,0,633:.	2	0	16	1
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1071.79	1334	chr12	40487422	.	A	ACC	1071.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.696;DP=19757;ExcessHet=0.119;FS=15.134;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.95;MQRankSum=-27.76;QD=0.52;ReadPosRankSum=3.63;SOR=2.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1032,86:1118:99:0|1:40487405_G_C:505,0,42926:40487405	17	0	2	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1030,113:1143:99:0|1:40487405_G_C:1644,0,42858:40487405	8	0	11	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3607.79	1391	chr12	40487442	.	G	GGCT	3607.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.356;DP=20382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=-28.47;QD=1.77;ReadPosRankSum=0.909;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1014,111:1125:99:0|1:40487405_G_C:1562,0,41522:40487405	17	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1006,110:1116:99:0|1:40487405_G_C:1539,0,41194:40487405	11	0	8	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1385.93	216	chr12	40509053	.	T	A	1385.93	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.103;DP=3219;ExcessHet=1.3;FS=2.065;InbreedingCoeff=-0.3398;MLEAC=7;MLEAF=0.35;MQ=59.41;MQRankSum=-11.22;QD=1.61;ReadPosRankSum=2.26;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,13:184:31:0|1:40509053_T_A:31,0,7070:40509053	5	0	5	9
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1396.34	219	chr12	40509056	.	G	A	1396.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.348;DP=3149;ExcessHet=1.3;FS=2.086;InbreedingCoeff=-0.3341;MLEAC=7;MLEAF=0.35;MQ=59.38;MQRankSum=-11.72;QD=1.59;ReadPosRankSum=2.49;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,13:186:25:0|1:40509053_T_A:25,0,7185:40509053	5	0	5	9
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1340.22	217	chr12	40509061	.	G	C	1340.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.07;DP=3190;ExcessHet=1.3;FS=0.986;InbreedingCoeff=-0.3424;MLEAC=7;MLEAF=0.35;MQ=59.42;MQRankSum=-11.56;QD=1.52;ReadPosRankSum=2.14;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,13:190:13:0|1:40509053_T_A:13,0,7306:40509053	5	0	5	9
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,13:189:16:0|1:40509053_T_A:16,0,7264:40509053	4	0	6	9
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.25	1399.28	221	chr12	40509076	.	G	A	1399.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.944;DP=2985;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.56;QD=1.61;ReadPosRankSum=1.76;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,14:193:49:0|1:40509076_G_A:49,0,7430:40509076	5	0	5	9
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1381.28	214	chr12	40509081	.	T	C	1381.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.285;DP=2965;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.6;QD=1.58;ReadPosRankSum=2.07;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,14:194:46:0|1:40509076_G_A:46,0,7465:40509076	5	0	5	9
chr12	49053066	49053066	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon9:c.C961T:p.R321W	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1486497	Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome|Kabuki_syndrome_1|Kabuki_syndrome	MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.671	0.435996540541	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1204392134	6.157e-06	6.84e-06	6.807e-06	5.501e-06	2.236e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.007829	0.31171	N	0.000000	0.888607	0.35903	D	2.82	0.82106	M	-1.97	0.85173	D	-5.94	0.89093	D	0.729	0.73015	0.920	0.95955	D	0.797	0.93142	D	10	0.9135523	0.90718	D	0.435997	0.94073	D	0.671	0.87820	0.731	0.86460	0.718266804153	0.71579	0.5528346669157204	0.55209	0.192949307211	0.21626	0.841150760651	0.88269	D	0.273662	0.64612	T	0.183571	0.72371	D	0.108776	0.77491	D	0.930745661258698	0.59565	D	0.955504	0.83071	D	0.30907804	0.53706	0.3915072	0.63920	0.30907804	0.53706	0.3915072	0.63920	-10.383	0.76172	D	.	.	0.699	0.72898	P	.	.	3.530062	0.49522	22.8	0.96634192683739983	0.30527	0.96842	0.71235	D	AEFDGBI	0.688873	0.64973	D	0.659814092234319	0.77004	6.592288	0.547014933857647	0.71191	5.617146	0.99999998873279	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.73	0.59485	3.613000	0.53894	6.631000	0.56152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.0:0.0:0.8392:0.1608	13.123	0.58752	357	0.85079	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2993.33	36	chr12	49053066	.	G	A	2993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=895;ExcessHet=0;FS=3.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.063;SOR=0.985	GT:AD:DP:GQ:PL	0/1:93,101:194:99:3007,0,2136	18	0	1	0
chr12	50352005	50352005	-	TG	exonic	FAM186A	.	frameshift insertion	FAM186A:NM_001145475:exon4:c.4826_4827insCA:p.Q1609Hfs*47	.	442	1077	1	1	1	4	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0.0079	0	0	0.0030	0	0	3.84e-05	1	26028	rs776561700	0.0027	0.0027	0.0026	0.0029	0.0026	0.0027	0.0026	0.0026	0.0025	0.0010	0.0020	0.0048	2.961e-05	0.0097	0.0004	0.0026	0.0034	0.0011	0.0011	0.0012	0.0011	0.0011	0.0017	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0009	0.0009	0	0.0017	0	0.0017	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1589.29	128	chr12	50352005	.	C	CTG	1589.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=3606;ExcessHet=0;FS=1.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.18;MQRankSum=-0.159;QD=8.93;ReadPosRankSum=0.642;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,80:178:99:0|1:50352005_C_CTG:1603,0,1559:50352005	18	0	1	0
chr12	50352008	50352008	-	CTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG	exonic	FAM186A	.	frameshift insertion	FAM186A:NM_001145475:exon4:c.4823_4824insCCAGGCCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCTCTCACCCCTCAGCAG:p.Q1611Lfs*79	.	582	410	248	225	57	755	0.459816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0	0.0125	0	0	0.0056	0	0	0.0001617	25	154602	.	0.0064	0.0050	0.0063	0.0065	0.0071	0.0062	0.0062	0.0068	0.0068	0.0020	0.0042	0.0084	3.71e-05	0.0133	0.0007	0.0071	0.0066	0.0017	0.0038	0.0041	0.0037	0.0039	0.0057	0.0033	0.0031	0.0049	0.0046	0.0008	0	0.0035	0.0029	0	0.0073	0	0.0057	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	105543.0	99	chr12	50352008	.	C	CCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG	105543.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.076;DP=4129;ExcessHet=1.0583;FS=0.624;InbreedingCoeff=0.0256;MLEAC=1;MLEAF=0.026;MQ=57.95;MQRankSum=-2.602;QD=34.02;ReadPosRankSum=-3.599;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,80:142:99:.:.:8340,1715,1507:.	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:41,19:63:38:38,0,710	7	0	10	2
chr12	52608203	52608203	A	G	exonic	KRT73	.	nonsynonymous SNV	KRT73:NM_175068:exon9:c.T1616C:p.M539T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0124439131455	7.7e-05	.	3.429e-05	0	0	0	0	3.052e-05	0	0.0002	2.59e-05	4	154602	rs138494929	1.988e-05	1.984e-05	1.227e-05	2.757e-05	4.666e-05	1.395e-05	1.206e-05	1.589e-05	1.108e-05	0	0	0	0	0	0	1.982e-05	4.978e-05	4.666e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.725	0.03869	T	0.424	0.13953	T	0.0	0.02946	B	0.0	0.01387	B	0.512026	0.11834	N	0.716472	1	0.08975	N	-0.6	0.02229	N	-1.32	0.80560	T	1.09	0.01447	N	0.128	0.12198	-0.9626	0.38684	T	0.200	0.55569	T	10	0.0375064	0.02109	T	0.012444	0.31014	T	0.104	0.29647	.	.	0.206339911435	0.20273	0.08743221518133712	0.08676	0.146840818826	0.16573	0.28814920783	0.08653	T	0.00807	0.07427	T	-0.237403	0.15682	T	-0.396643	0.33774	T	0.0187369365437889	0.00586	T	0.314169	0.06189	T	0.08300566	0.19149	0.13292839	0.31886	0.08300566	0.19149	0.13292839	0.31885	-2.068	0.03449	T	.	.	0.057	0.00543	B	.;.	.;.	0.265291	0.06434	2.905	0.77758553322141333	0.12010	0.00126	0.00785	N	AEFBI	0.017345	0.00449	N	-1.21546237097244	0.04775	0.2162409	-1.13879795758249	0.06970	0.3373841	2.87065253760134E-4	0.06355	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.06	-0.49	0.11448	0.412000	0.20852	.	.	-0.208000	0.08445	0.031000	0.20493	0.001000	0.17328	0.771000	0.36558	0.4345:0.0:0.5655:0.0	8.226	0.30728	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	33	chr12	52608203	.	A	G	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=701;ExcessHet=0;FS=5.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.64;SOR=0.275	GT:AD:DP:GQ:PL	0/1:31,32:63:99:789,0,922	18	0	1	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	101.41	36	chr12	56716774	.	T	C	101.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.514;DP=1288;ExcessHet=0.7564;FS=97.022;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.033;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,11:84:21:.:.:21,0,2617:.	15	0	4	0
chr12	57758845	57758845	G	A	exonic	MARCHF9	.	nonsynonymous SNV	MARCHF9:NM_138396:exon4:c.G989A:p.R330H	.	432	1089	1	0	0	1	0.000458926	.	.	.	4164406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.00641770400036	0.0002	0.000199681	8.002e-05	0	0	0.0002	0	8.085e-05	0	0.0001	7.12e-05	11	154602	rs146323526	4.872e-05	5.13e-05	4.775e-05	4.971e-05	9.296e-05	3.939e-05	3.616e-05	4.588e-05	3.499e-05	2.993e-05	0	0	7.581e-05	0	0	4.958e-05	6.644e-05	9.296e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0.0002	9.42e-05	0	0	0	0	0.065	0.36310	T	0.184	0.29056	T	0.312	0.42110	B	0.058	0.48013	B	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.735	0.44892	L	2.17	0.36146	T	-2.52	0.57599	D	0.088	0.18512	-0.8969	0.48302	T	0.163	0.49996	T	10	0.10087693	0.18399	T	0.006418	0.16899	T	0.175	0.44197	.	.	0.516827169674	0.51324	0.5218074659002333	0.52103	0.276623807186	0.30133	0.510422348976	0.40281	T	0.041017	0.25718	T	-0.332975	0.05890	T	-0.423923	0.30625	T	0.168200211121336	0.18458	T	0.818818	0.49530	T	0.33301675	0.55716	0.1664859	0.38459	0.33301675	0.55716	0.1664859	0.38458	-4.405	0.29625	T	.	.	0.097	0.16929	B	.;.	.;.	4.089667	0.60902	24.3	0.99834859804728115	0.91628	0.83814	0.42909	D	AEFDBCI	0.427452	0.49139	N	0.334978895981762	0.57951	3.964814	0.411686825711008	0.62291	4.442184	0.999998768910133	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.579976	0.35079	0	.	.	5.56	5.56	0.83678	3.305000	0.51580	11.929000	0.99898	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.440	0.90609	181	0.92953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	770.33	33	chr12	57758845	.	G	A	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=740;ExcessHet=0;FS=1.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.683;SOR=0.957	GT:AD:DP:GQ:PL	0/1:58,32:90:99:784,0,1467	18	0	1	0
chr12	57811021	57811021	C	T	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon4:c.G445A:p.E149K	.	.	.	.	.	.	.	.	0.9516	0.828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0223091500559	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs756883725	4.788e-05	4.857e-05	3.675e-05	5.913e-05	0.0002	3.86e-05	3.54e-05	4.612e-05	4.197e-05	0	0	0	0	0	0.0002	5.755e-05	4.967e-05	2.319e-05	5.257e-05	5.253e-05	5.14e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	6.808e-05	2.85e-05	2.413e-05	0	0	0	0.0004	0	0	7.351e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	0.51	0.55439	T	-3.51	0.72240	D	0.655	0.66529	0.141	0.84897	D	0.471	0.79674	T	10	0.7956155	0.79042	D	0.022309	0.45185	T	0.486	0.77464	0.596	0.72617	0.843020807234	0.84152	0.7512762375044043	0.75074	0.595676403535	0.54834	0.589607715607	0.51438	T	0.464913	0.80027	T	0.195843	0.73504	D	0.212667	0.83802	D	0.98667973279953	0.77334	D	0.973503	0.98387	D	0.74223053	0.80420	0.6388422	0.78906	0.74223053	0.80422	0.6388422	0.78907	-11.247	0.80995	D	0.7651861486709718	0.84666	0.340	0.71261	B	.;.	.;.	5.696652	0.93091	33	0.99899815917028012	0.97199	0.97689	0.76430	D	AEFBCI	0.914607	0.87823	D	0.857927371982042	0.89555	10.01989	0.730374468104555	0.84684	8.361392	0.999999999998595	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	4.996000	0.63655	7.624000	0.62436	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.0:1.0:0.0:0.0	17.988	0.89083	198	0.92335	Gelsolin-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	.	.	.	.	.	.	.	.	0.02632	1821.33	35	chr12	57811021	.	C	T	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=803;ExcessHet=0;FS=4.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.25;SOR=1.022	GT:AD:DP:GQ:PL	0/1:100,72:172:99:1835,0,2427	18	0	1	0
chr12	66324129	66324129	C	T	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon10:c.C2444T:p.T815M,HELB:NM_033647:exon10:c.C2444T:p.T815M	.	.	.	.	.	.	.	.	.	.	.	2735304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00694819317574	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs746415381	6.568e-05	6.567e-05	7.216e-05	5.914e-05	0.0003	5.496e-05	5.108e-05	6.148e-05	5.654e-05	0	8.945e-05	0	0	5.619e-05	0.0003	7.465e-05	6.624e-05	0	0.0002	0.0002	8.996e-05	0.0002	0.0007	0.0001	9.71e-05	0.0004	0.0003	2.415e-05	0	0.0007	0	0	0	0	0.0002	0	0	0.047	0.40319	D	0.112	0.37037	T	0.262	0.31549	B	0.039	0.23607	B	0.854525	0.08939	N	0.931909	1	0.08975	N	1.25	0.31749	L	2.72	0.11947	T	-1.09	0.28290	N	0.117	0.10626	-0.9979	0.30507	T	0.030	0.13067	T	9	0.065079	0.08725	T	0.006948	0.18402	T	0.022	0.04323	.	.	0.149567049428	0.14543	0.30155607456442285	0.30068	0.249302974152	0.27503	0.246222183108	0.03380	T	0.004303	0.03709	T	-0.400266	0.02306	T	-0.615759	0.11521	T	0.022297877534221	0.00942	T	.	.	.	0.019073667	0.00433	0.03773334	0.03490	0.019073667	0.00432	0.03773334	0.03490	-4.9	0.35735	T	.	.	0.080	0.07602	B	.	.	0.625166	0.09937	6.694	0.62178097835614565	0.06896	0.04403	0.09989	N	AEFBI	0.036940	0.05002	N	-0.930532648233938	0.10132	0.4827938	-0.980102144854702	0.10232	0.5140496	0.206589646538893	0.18188	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.24	2.37	0.28337	-0.663000	0.05398	-1.056000	0.06467	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5972:0.3161:0.0867	7.635	0.27427	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	34	chr12	66324129	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.186;SOR=0.624	GT:AD:DP:GQ:PL	0/1:46,40:86:99:1003,0,1099	18	0	1	0
chr12	80377139	80377139	A	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon58:c.A6771T:p.R2257S,OTOGL:NM_173591:exon58:c.A6771T:p.R2257S,OTOGL:NM_001378610:exon61:c.A6771T:p.R2257S,OTOGL:NM_001368062:exon62:c.A6636T:p.R2212S	Deafness, autosomal recessive 84B, Autosomal recessive	22	1497	3	0	0	3	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0143797368158	.	.	8.337e-06	0	0	0	0	0	0	6.154e-05	6.5e-06	1	154602	rs775109108	8.245e-06	8.209e-06	8.202e-06	8.288e-06	0.0002	4.4e-06	3.47e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	4.511e-06	1.664e-05	5.875e-05	6.575e-06	6.566e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000104	0.50451	D	0.123853	0.744794	0.33862	D	.	.	.	2.44	0.15145	T	-4.27	0.76254	D	0.604	0.62188	-1.0501	0.14369	T	0.043	0.18326	T	10	0.2658444	0.44084	T	0.01438	0.34458	T	0.099	0.28413	.	.	0.0846915920261	0.08053	0.4830935075549134	0.48229	0.167897587978	0.18931	0.435053765774	0.29901	T	.	.	.	-0.266945	0.12099	T	-0.416674	0.31457	T	0.85589462518692	0.50681	D	0.835616	0.50622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.77579	P	.;.;.	.;.;.	3.771576	0.54171	23.5	0.99587440405562422	0.73395	0.95616	0.65436	D	AEFBIJ	0.521469	0.54589	D	-0.157422090659677	0.34921	1.999	-0.123766265139654	0.34435	1.980703	1.68914747530022E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.32	0.432	0.15742	1.295000	0.32983	2.289000	0.31947	0.691000	0.84096	0.998000	0.41325	0.995000	0.32472	0.993000	0.69303	0.6261:0.0:0.3739:0.0	9.634	0.38960	778	0.48011	Cystine knot, C-terminal;.;Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1755.81	36	chr12	80377139	.	A	T	1755.81	.	AC=2;AF=0.053;AN=38;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.76;SOR=1.034	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1783,177,0	18	1	0	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	2004.32	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=4;MLEAF=0.105;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,13:144:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:127,0,5453:103984920	15	0	4	0
chr12	103984922	103984922	-	TAAGG	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGG;NM_003211:exon8:c.964+2->TAAGG	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.148e-05	0.0003	1.26e-05	1.034e-05	4.798e-05	5.4e-06	3.91e-06	4.77e-06	3.07e-06	0	0	8.22e-05	4.798e-05	0	0	1.147e-05	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	772.7	46	chr12	103984922	.	T	TTAAGG	772.7	.	AC=2;AF=0.067;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=2;MLEAF=0.067;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,13:144:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:128,0,5451:103984920	13	0	2	4
chr12	111552929	111552929	C	G	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310121:exon4:c.G82C:p.V28L,ATXN2:NM_001372574:exon4:c.G397C:p.V133L,ATXN2:NM_002973:exon4:c.G397C:p.V133L	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.0397421559068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.426e-06	1.232e-05	2.837e-06	0	3.385e-05	2.4e-07	9e-08	.	.	3.385e-05	0	0	0	0	0	9.189e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.61437	T	0.087	0.55759	T	0.997	0.70673	D	0.992	0.80445	D	0.000003	0.62929	D	0.059312	1	0.81001	D	2.24	0.63355	M	-0.33	0.68329	T	-1.68	0.41428	N	0.83	0.83576	-0.2033	0.77585	T	0.491	0.80688	T	10	0.67609	0.70999	D	0.039742	0.58985	D	0.380	0.69780	0.505	0.59924	0.825217495053	0.82356	0.7713337216581438	0.77083	1.15038008037	0.79184	0.794623911381	0.81146	T	0.052332	0.65964	T	0.307985	0.83592	D	0.204622	0.83379	D	0.904729843139648	0.55827	D	0.974702	0.91007	D	0.19244559	0.40914	0.24502485	0.49982	0.19244559	0.40914	0.24502485	0.49981	-10.223	0.75235	D	.	.	0.919	0.87304	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.155612	0.62368	24.4	0.99786913010304568	0.87308	0.98716	0.85943	D	AEFBI	0.781317	0.71293	D	0.816527677297231	0.87129	9.112415	0.818698944594814	0.91060	10.69996	0.999999998719661	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	5.251000	0.65257	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.323	0.98685	609	0.67094	Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.35	33	chr12	111552929	.	C	G	36.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.475;DP=1003;ExcessHet=0;FS=288.902;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.17;SOR=8.955	GT:AD:DP:GQ:PL	0/1:44,24:76:50:50,0,428	18	0	1	0
chr12	116750091	116750091	C	T	exonic	RNFT2	.	nonsynonymous SNV	RNFT2:NM_001109903:exon4:c.C334T:p.P112S,RNFT2:NM_001382266:exon4:c.C334T:p.P112S,RNFT2:NM_032814:exon4:c.C334T:p.P112S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00360203369691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484163525	7.141e-07	4.104e-06	1.412e-06	0	9.207e-07	0	0	.	.	0	0	0	0	0	0	9.207e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.16793	T	1.0	0.27767	T	0.0	0.02946	B	0.001	0.04355	B	0.011615	0.29466	N	0.394040	0.999998	0.08975	N	0.92	0.23413	L	1.01	0.41058	T	0.24	0.04533	N	0.099	0.10056	-0.9747	0.36191	T	0.030	0.12760	T	10	0.03568399	0.01828	T	0.003602	0.08247	T	0.055	0.15663	0.225	0.14960	0.043077524339	0.03247	0.11848851439264518	0.11775	0.237209552378	0.26261	0.31286752224	0.12341	T	0.018444	0.14866	T	-0.274894	0.11217	T	-0.632642	0.10216	T	0.0733780413866043	0.09118	T	0.730127	0.36851	T	0.031613503	0.03034	0.039964985	0.04210	0.031613503	0.03033	0.039964985	0.04210	-3.696	0.19776	T	.	.	0.062	0.09336	B	.;.;.;.;.	.;.;.;.;.	1.535140	0.19691	14.39	0.72495846318952295	0.09994	0.68514	0.33831	D	AEFDBI	0.101772	0.20432	N	-0.769055102807081	0.14122	0.700887	-0.553541148790878	0.20712	1.117157	6.88604927824544E-4	0.07622	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	0.199	0.14453	0.368000	0.20132	0.712000	0.20944	0.599000	0.40250	0.975000	0.34726	0.049000	0.21787	0.922000	0.45779	0.1051:0.5094:0.3215:0.064	7.940	0.29112	703	0.57489	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	909.33	33	chr12	116750091	.	C	T	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.91;DP=670;ExcessHet=0;FS=3.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.73;SOR=1.192	GT:AD:DP:GQ:PL	0/1:29,32:61:99:923,0,756	18	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.07895	2880.79	37	chr12	123313662	.	T	C	2880.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.604;DP=800;ExcessHet=0.3672;FS=6.012;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.806;SOR=0.435	GT:AD:DP:GQ:PL	0/1:48,39:87:99:1008,0,1187	16	0	3	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.07895	3712.77	33	chr12	131756617	.	A	G	3712.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.88;DP=788;ExcessHet=0;FS=0.656;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=-1.121;SOR=0.817	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2705,252,0	17	1	1	0
chr12	131920072	131920072	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon26:c.G2897A:p.R966Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0397117102888	.	.	3.353e-05	0	0	0	0	3.069e-05	0	0.0001	2.59e-05	4	154602	rs754938334	2.739e-05	2.736e-05	2.589e-05	2.89e-05	3.238e-05	2.064e-05	1.818e-05	2.37e-05	2.103e-05	2.987e-05	2.237e-05	0	0	0	0	3.238e-05	0	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.101	0.30375	T	0.261	0.22962	T	0.971	0.57185	D	0.461	0.46460	P	0.003059	0.35512	N	0.193768	1	0.81001	D	1.75	0.45442	L	1.01	0.41058	T	-1.72	0.40850	N	0.369	0.41063	-1.0200	0.23715	T	0.101	0.37543	T	10	0.19540828	0.35391	T	0.039712	0.58968	D	0.080	0.23350	0.437	0.48993	0.327946701059	0.32395	0.09735969884179817	0.09666	0.490247172869	0.47758	0.390256166458	0.23705	T	0.195929	0.55216	T	-0.226957	0.17053	T	-0.382257	0.35457	T	0.277687937021255	0.24074	T	0.984801	0.94749	D	0.061334565	0.12687	0.06501328	0.13116	0.061334565	0.12687	0.06501328	0.13116	-6.263	0.48429	T	.	.	0.074	0.05060	B	.	.	4.945033	0.81640	27.6	0.99924958760524785	0.98980	0.76854	0.37727	D	AEFDBHCI	0.210454	0.33634	N	0.334513279010536	0.57928	3.962242	0.316879049653567	0.56530	3.816571	0.997932005705178	0.36211	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	3.27	0.36580	3.562000	0.53522	5.694000	0.49349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.3568:0.0:0.6432:0.0	5.291	0.15037	976	0.04745	Serine/threonine-protein kinase, 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	.	.	.	.	.	.	.	.	0.05263	4578.81	33	chr12	131920072	.	G	A	4578.81	.	AC=2;AF=0.053;AN=38;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.58;SOR=0.823	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4606,435,0	18	1	0	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,23:244:99:0|1:25097005_A_G:301,0,9211:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,23:244:99:0|1:25097005_A_G:301,0,9211:25097005	7	0	12	0
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H	Fraser syndrome, Autosomal recessive	2	1496	24	0	0	24	0.00795756	.	.	YES	334576	Fraser_syndrome_2|Isolated_cryptophthalmia|not_specified|Congenital_diaphragmatic_hernia|FREM2-related_disorder|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|.|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	2004.33	41	chr13	38691375	.	G	A	2004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=1106;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.13;SOR=0.692	GT:AD:DP:GQ:PL	0/1:97,74:171:99:2018,0,2388	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,42:138:99:.:.:220,0,2399:.	3	0	15	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:76,25:101:17:17,0,1233	11	0	8	0
chr13	50930688	50930688	C	G	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon4:c.C250G:p.L84V,RNASEH2B:NM_024570:exon4:c.C250G:p.L84V	Aicardi-Goutieres syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	840978	Aicardi-Goutieres_syndrome_2|not_provided	MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0790588722529	7.7e-05	.	6.591e-05	0	0	0	0	1.498e-05	0.0011	0.0004	5.17e-05	8	154602	rs143523027	4.592e-05	4.72e-05	4.502e-05	4.683e-05	0.0002	3.669e-05	3.354e-05	0.0001	0.0001	0	0	0	0	0	0.0002	3.605e-05	0.0001	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.31383	T	0.252	0.40586	T	0.844	0.46645	P	0.216	0.37572	B	0.083336	0.20759	N	0.470450	0.991509	0.24024	N	2.2	0.62015	M	-3.94	0.96143	D	-0.54	0.16598	N	0.376	0.42931	0.026	0.82767	D	0.730	0.90773	D	10	0.19523409	0.35367	T	0.079059	0.73148	D	0.280	0.59740	.	.	0.865996763586	0.86470	0.16009631792008464	0.15930	0.058426066351	0.06474	0.287450999022	0.08552	T	0.422974	0.77388	T	-0.158027	0.27064	T	-0.136811	0.60393	T	0.0843002608043102	0.10528	T	0.940906	0.80515	D	0.13705209	0.31748	0.10698687	0.25747	0.11146203	0.26339	0.10083991	0.24122	-4.335	0.28664	T	0.244375938760566	0.33100	0.085	0.18331	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.981846	0.39779	21.0	0.9806932357617002	0.38015	0.92619	0.56139	D	AEFBI	0.299418	0.40848	N	-0.06400350366761	0.38979	2.291414	0.0148613121829884	0.40404	2.410738	0.999930374835286	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	4.48	0.53973	3.289000	0.51454	4.915000	0.45989	-0.217000	0.08171	0.997000	0.40164	1.000000	0.68203	0.957000	0.51019	0.0:0.8432:0.1568:0.0	13.463	0.60692	833	0.38804	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	498.33	34	chr13	50930688	.	C	G	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.661;SOR=0.77	GT:AD:DP:GQ:PL	0/1:40,25:65:99:512,0,1027	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:93,32:137:51:51,0,1444	6	0	13	0
chr13	80337647	80337647	T	G	exonic	SPRY2	.	nonsynonymous SNV	SPRY2:NM_001318536:exon2:c.A59C:p.D20A,SPRY2:NM_001318537:exon2:c.A59C:p.D20A,SPRY2:NM_001318538:exon2:c.A59C:p.D20A,SPRY2:NM_005842:exon2:c.A59C:p.D20A	.	418	1072	31	1	0	33	0.0151585	.	.	.	3893777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0026	0.00319489	0.0047	0.0003	0.0029	0.0001	0.0085	0.0038	0.01	0.0126	0.0042432	656	154602	rs141331436	0.0039	0.0039	0.0037	0.0042	0.0123	0.0038	0.0038	0.0117	0.0114	0.0002	0.0027	0.0011	2.519e-05	0.0089	0.0087	0.0034	0.0039	0.0123	0.0031	0.0032	0.0028	0.0035	0.0133	0.0029	0.0028	0.0107	0.0097	0.0003	0	0.0034	0.0009	0	0.0087	0.0068	0.0035	0.0047	0.0133	0.613	0.05420	T	0.654	0.06643	T	1.0	0.90584	D	0.992	0.80445	D	0.000592	0.43095	D	0.224168	0.999998	0.58761	D	2.2	0.62015	M	0.56	0.54540	T	-0.78	0.21644	N	0.472	0.50778	-0.6976	0.60553	T	0.254	0.62383	T	10	0.0057548285	0.00128	T	.	.	.	0.161	0.41658	.	.	0.536231820724	0.53273	0.568324904863497	0.56760	1.51082159887	0.87234	0.486366450787	0.36935	T	0.107127	0.41906	T	-0.324056	0.06571	T	-0.227872	0.51978	T	0.0318544857619161	0.02282	T	0.608739	0.23025	T	0.14498861	0.33255	0.11663937	0.28156	0.15470317	0.35002	0.11881217	0.28677	-2.597	0.06481	T	.	.	0.121	0.25133	B	.;.	.;.	4.607949	0.73040	25.9	0.99313600354406661	0.59092	0.96832	0.71180	D	AEFDBCI	0.798340	0.72491	D	0.444224775955597	0.63876	4.630019	0.455208210573323	0.65052	4.775195	0.999999999997623	0.74766	0.542737	0.22433	0	0.586065	0.33999	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.2	5.2	0.71720	4.754000	0.61888	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	15.145	0.72327	837	0.37933	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.005051	0.006793	0.002924	0.000000	0.025862	0.009146	0.030303	0.05263	3951.83	47	chr13	80337647	.	T	G	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=995;ExcessHet=0.119;FS=1.348;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=2.85;SOR=0.611	GT:AD:DP:GQ:PL	0/1:84,77:161:99:2017,0,2202	17	0	2	0
chr13	97976743	97976743	G	C	exonic	IPO5	.	nonsynonymous SNV	IPO5:NM_002271:exon4:c.G47C:p.G16A	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.530626932139	.	.	1.688e-05	0	0	0	0	0	0	9.362e-05	6.5e-06	1	154602	rs746335867	3.941e-06	4.788e-06	6.271e-06	1.585e-06	3.795e-05	1.15e-06	8.4e-07	1.008e-05	4.79e-06	0	0	0	0	0	0	2.01e-06	0	3.795e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.91255	T	0.101	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000011	0.62929	U	0.066021	0.993914	0.42096	D	0.95	0.23787	L	-0.22	0.66474	T	-0.27	0.89272	N	0.194	0.39659	-1.0149	0.25368	T	0.118	0.41560	T	10	0.19717723	0.35639	T	0.530627	0.95583	D	0.145	0.38592	0.32	0.29902	0.421250438938	0.41742	0.2015618115773803	0.20073	0.428187793213	0.43146	0.754503190517	0.75112	T	0.013	0.40604	T	-0.0349662	0.46692	T	-0.288003	0.45980	T	0.374773323535919	0.27981	T	0.855914	0.70760	D	0.20413849	0.42514	0.15171607	0.35727	0.20413849	0.42514	0.15171607	0.35726	-3.005	0.15738	T	.	.	0.199	0.68516	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.835828	0.37399	20.5	0.9852591209156577	0.42533	0.70625	0.34668	D	ALL	0.545069	0.55973	D	-0.507098529417766	0.21850	1.162586	-0.34526020414177	0.26655	1.473762	0.999999999876652	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.68	1.91	0.24841	3.810000	0.55318	4.447000	0.43408	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1904:0.0:0.8096:0.0	8.649	0.33189	610	0.67008	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Importin-beta, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	601.33	41	chr13	97976743	.	G	C	601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=773;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=1.03;SOR=0.67	GT:AD:DP:GQ:PL	0/1:57,29:86:99:615,0,1276	18	0	1	0
chr13	98810219	98810219	C	T	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366677:exon46:c.G5146A:p.D1716N,DOCK9:NM_001366679:exon46:c.G5110A:p.D1704N,DOCK9:NM_001366680:exon46:c.G5110A:p.D1704N,DOCK9:NM_001366682:exon46:c.G5203A:p.D1735N,DOCK9:NM_001366683:exon46:c.G5203A:p.D1735N,DOCK9:NM_001366681:exon47:c.G5272A:p.D1758N,DOCK9:NM_001366684:exon47:c.G5272A:p.D1758N	.	431	1076	15	0	0	15	0.00692201	.	.	.	3237940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0158218844698	0.0002	.	0.0009	0.0002	0.0012	0.0001	0	0.0011	0.0056	0.0007	0.0008085	125	154602	rs61745987	0.0007	0.0007	0.0006	0.0007	0.0196	0.0007	0.0006	0.0167	0.0156	0.0007	0.0010	0.0053	2.519e-05	0	0.0196	0.0005	0.0015	0.0009	0.0008	0.0008	0.0007	0.0008	0.0010	0.0007	0.0006	0.0006	0.0006	0.0003	0	0.0010	0.0066	0	0	0.0238	0.0008	0.0009	0.0010	0.008	0.61437	D	0.027	0.57104	D	0.922	0.51142	P	0.34	0.42389	B	0.000000	0.84330	D	0.048763	0.999999	0.81001	D	.	.	.	2.44	0.44065	T	-2.49	0.65858	N	0.688	0.69387	-0.5528	0.66680	T	0.310	0.68076	T	10	0.012893587	0.00275	T	0.015822	0.36761	T	0.096	0.27654	.	.	0.540862856989	0.53738	0.8476392026427827	0.84724	0.730581440228	0.62714	0.885585129261	0.94699	D	.	.	.	-0.445314	0.01203	T	-0.468787	0.25646	T	0.0847294772771088	0.10581	T	0.936106	0.76517	D	.	.	.	.	.	.	.	.	-11.319	0.81378	D	.	.	0.161	0.48817	B	.;.;.;.;.	.;.;.;.;.	4.669038	0.74605	26.2	0.99886130288547437	0.96126	0.95884	0.66568	D	AEFBI	0.624964	0.60834	D	0.243366551306506	0.53310	3.500613	0.29111436535079	0.55020	3.665534	0.999999931017631	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	4.5	0.54382	4.597000	0.60770	5.926000	0.51241	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.1399:0.8601:0.0:0.0	15.434	0.74851	957	0.09725	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 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	0.012588	0.005051	0.017663	0.040936	0.050000	0.017241	0.000000	0.003788	0.02632	985.33	34	chr13	98810219	.	C	T	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=725;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.242;SOR=0.45	GT:AD:DP:GQ:PL	0/1:53,47:100:99:999,0,1171	18	0	1	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:136,40:176:99:116,0,3044	7	0	8	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:152,53:205:99:122,0,3416	5	0	11	3
chr13	102862591	102862591	T	G	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon8:c.T1442G:p.V481G,BIVM-ERCC5:NM_001204425:exon16:c.T2804G:p.V935G	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00433418042678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.026	0.55759	D	0.0	0.02946	B	0.0	0.01387	B	0.003684	0.00978	N	2.558020	0.999999	0.08975	N	1.32	0.33002	L	3.56	0.04696	T	-1.28	0.32185	N	0.082	0.05799	-1.0032	0.28992	T	0.011	0.04274	T	10	0.066860676	0.09232	T	0.004334	0.10529	T	0.006	0.00375	0.304	0.27325	0.132336055621	0.12781	0.3551941987148705	0.35433	0.14966252543	0.16875	.	.	.	0.13289	0.46324	T	-0.363024	0.03962	T	-0.759235	0.03140	T	0.0861084538971601	0.10750	T	0.289471	0.05256	T	0.05351473	0.10138	0.043272506	0.05345	0.05351473	0.10137	0.043272506	0.05345	-3.3	0.13737	T	.	.	0.109	0.20819	B	.;.;.;.	.;.;.;.	-1.003951	0.00766	0.024	0.44551429495615197	0.03433	0.05128	0.10935	N	AEFGBI	0.072372	0.14440	N	-1.44507580938985	0.02256	0.09941076	-1.57937078274915	0.01781	0.08108524	0.999999988090285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	-8.38	0.00851	-2.017000	0.01533	-5.865000	0.01570	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0963:0.5994:0.1918:0.1126	5.641	0.16839	935	0.14827	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2498.33	37	chr13	102862591	.	T	G	2498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=0.428;SOR=0.678	GT:AD:DP:GQ:PL	0/1:64,86:150:99:2512,0,1810	18	0	1	0
chr13	107866338	107866338	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.258_259insCAG:p.Q86_R87insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	.	0.0091	0.0050	0.0086	0.0013	0.0041	0.0124	0.0060	0.0061	0.0029199	76	26028	rs775886294	0.0085	0.0085	0.0086	0.0085	0.0271	0.0084	0.0083	0.0236	0.0222	0.0040	0.0083	0.0179	0.0012	0.0040	0.0271	0.0090	0.0108	0.0051	0.0081	0.0080	0.0085	0.0076	0.0123	0.0077	0.0075	0.0109	0.0103	0.0038	0.0518	0.0123	0.0165	0.0022	0.0039	0.0139	0.0098	0.0110	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2305.5	41	chr13	107866338	.	T	TCTG	2305.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.384;DP=859;ExcessHet=0.3672;FS=11.018;InbreedingCoeff=-0.088;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.033;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,29:66:99:.:.:1035,0,1400:.	17	0	2	0
chr14	23407154	23407154	G	T	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon3:c.C70A:p.L24I	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1521	1	0	0	1	0.000328623	.	.	.	175436	not_specified|Hypertrophic_cardiomyopathy_14|MYH6-related_disorder|Cardiovascular_phenotype|not_provided|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|.|MedGen:CN230736|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0197852521294	.	0.00119808	0.0007	0	0	0	0	1.499e-05	0	0.0051	0.0005886	91	154602	rs573489857	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	5.038e-05	0	0	3.597e-06	0.0006	0.0050	0.0001	0.0001	0.0001	0.0002	0.0046	9.733e-05	8.249e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	1.0	0.00964	T	0.811	0.03933	T	0.005	0.12996	B	0.021	0.19346	B	.	.	.	.	0.998295	0.44734	D	1.415	0.35607	L	-1.99	0.85320	D	-0.21	0.10308	N	0.196	0.21580	-0.7051	0.60193	T	0.301	0.67214	T	9	0.008678585	0.00197	T	0.019785	0.42241	T	0.170	0.43303	0.366	0.37361	0.77557736996	0.77351	0.2545036309122597	0.25364	0.383871402863	0.39705	0.603444814682	0.53391	T	0.245042	0.61427	T	-0.37402	0.03395	T	-0.30894	0.43773	T	0.019801623703647	0.00682	T	0.711729	0.32279	T	0.087461635	0.20366	0.10294642	0.24686	0.07748433	0.17590	0.10538122	0.25331	-1.611	0.02007	T	0.17404105925954416	0.22081	0.141	0.30945	B	.;.	.;.	3.128827	0.42274	21.5	0.43841076429237591	0.03329	0.79315	0.39279	D	AEFBI	0.730796	0.67808	D	-0.520540628985153	0.21416	1.136424	-0.337501486955383	0.26898	1.488814	0.986252755045077	0.31031	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.53	3.53	0.39533	0.659000	0.24677	-1.858000	0.04600	0.672000	0.70159	0.423000	0.26353	0.000000	0.08366	0.995000	0.73285	0.0:0.0:0.8227:0.1773	11.685	0.50741	388	0.83355	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1617.33	34	chr14	23407154	.	G	T	1617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.198;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.212;SOR=0.711	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1631,0,1519	18	0	1	0
chr14	24148865	24148865	C	T	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon5:c.C167T:p.P56L,RNF31:NM_017999:exon5:c.C620T:p.P207L	.	.	.	.	.	.	.	.	.	.	.	1347960	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.0124348860399	.	.	2.484e-05	0	8.639e-05	0	0	1.498e-05	0	6.061e-05	1.94e-05	3	154602	rs763692830	6.431e-05	6.43e-05	4.901e-05	7.976e-05	0.0005	5.362e-05	4.977e-05	0.0003	0.0003	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	4.227e-05	3.312e-05	0.0005	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.858	0.61127	P	0.018298	0.27517	N	0.326062	0.99997	0.53665	D	2.075	0.57047	M	0.94	0.44856	T	-8.06	0.98503	D	0.334	0.39254	-0.7584	0.57492	T	0.199	0.55414	T	10	0.21402872	0.37912	T	0.012435	0.30996	T	0.147	0.38986	0.385	0.40460	0.392130519673	0.38828	0.4421054143493573	0.44127	0.236288230987	0.26167	0.459971874952	0.33307	T	0.117456	0.51685	T	-0.278474	0.10829	T	-0.327267	0.41772	T	0.503190815448761	0.32746	D	.	.	.	0.08169172	0.18782	0.08350695	0.19142	0.08169172	0.18782	0.08350695	0.19142	-4.261	0.28457	T	.	.	0.114	0.22933	B	.;.;.;.;.;.	.;.;.;.;.;.	3.561105	0.50109	22.9	0.99622924798820311	0.75533	0.75595	0.37021	D	AEFBI	0.129097	0.24713	N	0.424677830763806	0.62782	4.499974	0.390858829017038	0.60999	4.294249	0.999999996262184	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.72	4.72	0.59248	2.019000	0.40620	3.342000	0.37715	0.599000	0.40250	0.592000	0.27682	0.103000	0.22699	0.808000	0.38083	0.0:1.0:0.0:0.0	13.046	0.58332	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1821.33	33	chr14	24148865	.	C	T	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.332;DP=790;ExcessHet=0;FS=6.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=2.24;SOR=0.342	GT:AD:DP:GQ:PL	0/1:42,74:116:99:1835,0,1186	18	0	1	0
chr14	24311709	24311709	A	T	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.A1045T:p.M349L,LTB4R2:NM_019839:exon2:c.A1045T:p.M349L	.	397	1114	11	0	0	11	0.00491291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0005	0.00259585	0.0013	0.0001	0.0006	0	0	0.0006	0.0036	0.0070	0.001119	173	154602	rs148153989	0.0006	0.0006	0.0004	0.0008	0.0063	0.0006	0.0006	0.0049	0.0048	0.0003	0.0009	0.0006	0	7.563e-05	0.0063	0.0003	0.0010	0.0053	0.0006	0.0006	0.0004	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	4.81e-05	0	0.0022	0.0006	0	0	0	0.0003	0.0014	0.0048	0.334	0.12961	T	0.306	0.19972	T	0.0	0.02946	B	0.0	0.01387	B	0.144554	0.02912	U	2.606680	0.965553	0.25933	N	-0.345	0.03330	N	-0.13	0.64818	T	-0.17	0.09627	N	0.081	0.06059	-1.0374	0.18109	T	0.112	0.40145	T	10	0.002115637	0.00030	T	.	.	.	0.065	0.18881	0.263	0.20788	0.437527004654	0.43370	0.21154309866948948	0.21070	0.495164995704	0.48060	0.252874314785	0.04076	T	0.02717	0.19957	T	-0.56627	0.00233	T	-0.583294	0.14251	T	0.00500401839391299	0.00054	T	.	.	.	0.09839908	0.23209	0.11954269	0.28853	0.09839908	0.23209	0.11954269	0.28852	.	.	.	.	.	0.080	0.07937	B	.;.;.	.;.;.	0.555658	0.09243	6.024	0.92591644055282629	0.22052	0.17823	0.20002	N	AEFDBCI	0.128547	0.24636	N	-1.04108723214452	0.07763	0.3617484	-1.02030606614267	0.09339	0.4640637	0.999998774083464	0.74766	0.646311	0.45356	0	0.516746	0.08562	0	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.49	-0.188	0.12612	-0.284000	0.08456	0.735000	0.21116	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.4166:0.3269:0.2565:0.0	4.439	0.10988	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.009511	0.002924	0.000000	0.025862	0.003049	0.007576	0.02632	1172.33	38	chr14	24311709	.	A	T	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.402;SOR=0.765	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1186,0,1134	18	0	1	0
chr14	45227734	45227734	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon9:c.A1675G:p.T559A	.	436	1064	22	0	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00368051569428	0.0003	0.000998403	0.0010	9.615e-05	0.0007	0	0	0.0007	0.0022	0.0041	0.0008732	135	154602	rs78638207	0.0007	0.0007	0.0006	0.0009	0.0092	0.0007	0.0007	0.0072	0.0065	0.0001	0.0006	0.0004	2.52e-05	7.488e-05	0.0092	0.0005	0.0012	0.0046	0.0006	0.0006	0.0006	0.0006	0.0037	0.0005	0.0005	0.0024	0.0020	0.0001	0	0.0010	0.0003	0	0	0.0034	0.0007	0.0009	0.0037	0.273	0.15876	T	0.485	0.11725	T	0.0	0.02946	B	0.0	0.01387	B	0.161117	0.03039	N	1.892250	1	0.08975	N	0	0.06538	N	2.27	0.17431	T	-0.1	0.08495	N	0.1	0.08227	-1.0136	0.25784	T	0.020	0.08407	T	10	0.0050391555	0.00109	T	0.003681	0.08496	T	0.001	0.00016	.	.	0.0297737177859	0.01360	0.11054547811145025	0.10983	0.0243229922235	0.02469	0.287212371826	0.08518	T	0.002522	0.01914	T	-0.71849	0.00028	T	-0.804571	0.01791	T	0.00755214021442597	0.00087	T	0.339366	0.07307	T	0.020072557	0.00553	0.021951139	0.00231	0.020072557	0.00553	0.021951139	0.00231	-3.735	0.19835	T	.	.	0.063	0.01491	B	.	.	-0.242874	0.02879	0.410	0.64820941754289496	0.07600	0.00859	0.03418	N	AEFDBIJ	0.019693	0.00707	N	-1.51389561729169	0.01758	0.07698201	-1.52155058778416	0.02179	0.09981657	0.710008609009829	0.22807	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-3.17	0.04882	-0.059000	0.11688	0.079000	0.14366	-0.952000	0.02027	0.007000	0.17678	0.000000	0.08366	0.785000	0.37106	0.0912:0.3896:0.2427:0.2765	3.150	0.06097	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	2460.33	34	chr14	45227734	.	T	C	2460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.573;DP=908;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.94;SOR=0.491	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2474,0,2454	18	0	1	0
chr14	55440467	55440467	-	TGGGGG	exonic	TBPL2	.	nonframeshift insertion	TBPL2:NM_199047:exon1:c.78_79insCCCCCA:p.P26_T27insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs747839285	5.48e-05	6.226e-05	4.907e-05	6.059e-05	0.0002	4.483e-05	4.153e-05	5.396e-05	4.042e-05	0	8.947e-05	0.0003	2.521e-05	0	0.0002	4.95e-05	3.314e-05	0.0001	2.631e-05	2.628e-05	0	5.385e-05	4.413e-05	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.413e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	786.77	40	chr14	55440467	.	T	TTGGGGG	786.77	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.84;SOR=2.948	GT:AD:DP:GQ:PL	1/1:0,19:19:57:814,57,0	18	1	0	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:43,24:67:99:311,0,894	3	0	16	0
chr14	60108219	60108219	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_001330177:exon2:c.A581G:p.N194S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0257229086084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.09209	T	0.099	0.38891	T	.	.	.	.	.	.	1.000000	0.07966	U	0.063246	0.999992	0.81001	D	1.935	0.51832	L	1.92	0.23082	T	-2.29	0.50992	N	0.404	0.69737	-1.1334	0.01627	T	0.066	0.27156	T	7	0.2370556	0.40799	T	0.025723	0.48675	D	0.115	0.32236	0.516	0.61611	0.318252033908	0.31440	0.5988530160479648	0.59816	.	.	.	.	.	0.005129	0.04570	T	-0.207893	0.19678	T	-0.5364	0.18652	T	0.6265747834758	0.37476	D	0.866213	0.59551	D	0.04146725	0.06112	0.048747126	0.07304	0.04146725	0.06112	0.048747126	0.07304	-1.84	0.02631	T	.	.	0.132	0.28348	B	.;.	.;.	3.181643	0.43193	21.7	0.98749891073854568	0.45633	0.98162	0.80137	D	AEFGBI	0.832991	0.75127	D	0.333460604784091	0.57874	3.956515	0.424602286392914	0.63100	4.537395	0.999999889888825	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.170000	0.77150	9.385000	0.80541	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9248:0.0:0.0752:0.0	10.607	0.44592	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2730.33	39	chr14	60108219	.	A	G	2730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=894;ExcessHet=0;FS=1.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-1.314;SOR=0.894	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2744,0,2093	18	0	1	0
chr14	60720114	60720114	T	C	exonic	SIX4	.	nonsynonymous SNV	SIX4:NM_017420:exon2:c.A1195G:p.N399D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0344919220176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38863	T	0.7	0.05727	T	0.167	0.28604	B	0.034	0.22909	B	0.000003	0.62929	D	0.103070	0.956789	0.26285	N	0.895	0.22405	L	-2.67	0.90332	D	-1.05	0.27463	N	0.251	0.28381	-0.5629	0.66293	T	0.431	0.77303	T	10	0.19917089	0.35916	T	0.034492	0.55709	D	0.155	0.40530	0.406	0.43902	0.797623749127	0.79574	0.260692471510415	0.25983	0.113881039405	0.12844	0.526856422424	0.42591	T	0.098235	0.40185	T	-0.073305	0.40798	T	-0.343074	0.39995	T	0.599980473518372	0.36399	D	0.806219	0.45479	T	0.21022877	0.43313	0.19486812	0.43133	0.21022877	0.43313	0.19486812	0.43132	-4.314	0.28373	T	.	.	0.093	0.13830	B	.;.	.;.	3.019054	0.40400	21.2	0.99440856239065412	0.64770	0.75863	0.37167	D	AEFGBI	0.150215	0.27446	N	-0.181914362196658	0.33887	1.927802	0.039216168503446	0.41555	2.498405	0.999999710241141	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.72	4.59	0.56297	4.377000	0.59330	6.183000	0.54660	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0713:0.0:0.9287	11.151	0.47685	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1945.33	33	chr14	60720114	.	T	C	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.084;DP=764;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.916;SOR=0.781	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1959,0,2048	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,34:131:99:.:.:177,0,2268:.	2	0	15	2
chr14	64738832	64738832	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1495A:p.E499K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00773368103808	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs777074328	4.248e-05	4.378e-05	4.558e-05	3.932e-05	0.0002	3.37e-05	3.055e-05	4.056e-05	3.704e-05	0	7.173e-05	0	0	0	0.0002	5.191e-05	0	0	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.088	0.32296	T	0.512	0.39954	T	0.977	0.90584	D	0.496	0.82059	P	0.286532	0.14847	N	0.649312	0.984598	0.27670	N	2.32	0.66415	M	1.38	0.34050	T	-2.47	0.53898	N	0.271	0.42639	-0.9488	0.41177	T	0.173	0.51579	T	10	0.19002154	0.34627	T	0.007734	0.20510	T	0.045	0.12272	.	.	0.440288351245	0.43647	0.33074584776457416	0.32987	0.191677269743	0.21502	0.501892209053	0.39091	T	0.030348	0.40037	T	-0.125513	0.32225	T	-0.418067	0.31296	T	0.72250908613205	0.41826	D	0.891311	0.62583	D	0.12844038	0.30028	0.1320263	0.31691	0.12844038	0.30028	0.1320263	0.31690	-6.009	0.53277	T	.	.	0.128	0.40032	B	.;.;.;.;.	.;.;.;.;.	3.889255	0.56581	23.8	0.99903389626740813	0.97502	0.78318	0.38621	D	AEFDGBCI	0.304811	0.41240	N	0.382909452692601	0.60494	4.239105	0.366668962981346	0.59519	4.130342	0.999338278862659	0.39185	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	3.4	0.38031	3.218000	0.50894	5.814000	0.50030	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.974000	0.55675	0.0782:0.1376:0.7842:0.0	10.025	0.41238	404	0.82510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1825.33	35	chr14	64738832	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.52;SOR=0.722	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1839,0,1837	18	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1074,0,1497	15	0	4	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,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	1	0	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07895	3341.79	33	chr14	74358253	.	C	A	3341.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.542;DP=830;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.716;SOR=0.716	GT:AD:DP:GQ:PL	0/1:46,39:85:99:1115,0,1509	16	0	3	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:78,32:110:29:29,0,1577	10	0	9	0
chr14	91785302	91785302	G	A	exonic	TC2N	.	nonsynonymous SNV	TC2N:NM_001289134:exon10:c.C1030T:p.R344C,TC2N:NM_001128595:exon11:c.C1222T:p.R408C,TC2N:NM_001128596:exon11:c.C1222T:p.R408C,TC2N:NM_152332:exon11:c.C1222T:p.R408C	.	.	.	.	.	.	.	.	.	.	.	3485798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0929541059231	.	.	8.249e-06	9.669e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs750114377	7.526e-06	7.524e-06	6.808e-06	8.252e-06	0.0003	4.04e-06	2.95e-06	6.096e-05	2.522e-05	2.988e-05	2.236e-05	0	2.523e-05	0	0.0003	3.598e-06	3.313e-05	0	1.973e-05	1.969e-05	0	4.037e-05	0.0004	5.24e-06	2.46e-06	6.842e-05	2.863e-05	2.41e-05	0	0	0	0.0004	0	0	0	0	0	0.006	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.050633	1	0.81001	D	2.125	0.59049	M	-0.66	0.72348	T	-2.71	0.62976	D	0.785	0.78262	-0.1500	0.78916	T	0.414	0.76177	T	10	0.77981365	0.77760	D	0.092954	0.75986	D	0.635	0.86027	0.596	0.72617	0.825219688698	0.82356	0.4348189947624074	0.43398	0.35862413159	0.37576	0.670634746552	0.62928	T	0.279684	0.65238	T	0.155219	0.69755	D	0.210887	0.83710	D	0.850529134273529	0.50211	D	.	.	.	0.31876615	0.54535	0.22591862	0.47553	0.31876615	0.54535	0.22591862	0.47552	-5.358	0.40513	T	.	.	0.338	0.61161	B	.;.;.;.;.	.;.;.;.;.	5.509864	0.91672	32	0.99927345791249955	0.99163	0.96342	0.68671	D	AEFI	0.776680	0.70972	D	0.617464862915441	0.74278	6.105722	0.637627791773749	0.77691	6.728581	0.73438780774774	0.23105	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.35	5.35	0.76297	6.368000	0.73042	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	19.061	0.93075	794	0.45591	C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;.;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B 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	827.33	35	chr14	91785302	.	G	A	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=691;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.076;SOR=0.544	GT:AD:DP:GQ:PL	0/1:27,32:59:99:841,0,621	18	0	1	0
chr14	91881380	91881380	G	T	exonic	FBLN5	.	nonsynonymous SNV	FBLN5:NM_001384159:exon9:c.C952A:p.L318M,FBLN5:NM_001384160:exon9:c.C901A:p.L301M,FBLN5:NM_006329:exon9:c.C901A:p.L301M,FBLN5:NM_001384158:exon10:c.C1024A:p.L342M,FBLN5:NM_001384161:exon10:c.C733A:p.L245M,FBLN5:NM_001384162:exon10:c.C733A:p.L245M	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	872919	not_provided|Optic_atrophy|Cutis_laxa|Cutis_laxa,_autosomal_dominant|Macular_degeneration,_age-related,_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209|MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895,Orphanet:280598	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0655539745453	0.0002	.	0.0003	0	0.0003	0	0	0.0002	0	0.0012	0.0002393	37	154602	rs377360782	0.0001	0.0001	9.802e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0001	0	0	0	0.0021	7.915e-05	0.0002	0.0009	7.22e-05	7.217e-05	3.853e-05	0.0001	0.0004	3.967e-05	3.124e-05	7.29e-05	3.029e-05	0	0	6.535e-05	0	0	0	0.0034	7.349e-05	0.0009	0.0004	0.231	0.61437	T	0.086	0.40909	T	0.964	0.55854	D	0.526	0.48415	P	0.114243	0.19282	N	0.518982	1	0.08975	N	1.685	0.43254	L	-2.96	0.91956	D	0.52	0.02853	N	0.361	0.40264	-0.1903	0.77920	T	0.610	0.86166	D	10	0.029338509	0.01061	T	0.065554	0.69613	D	0.269	0.58381	.	.	0.376443419754	0.37259	0.5307321015179729	0.52997	0.530318955464	0.50568	0.327440261841	0.14547	T	0.057858	0.51029	T	-0.20657	0.19866	T	-0.142304	0.59917	T	0.0580359422710967	0.06855	T	0.657134	0.31637	T	0.05420917	0.10369	0.05013022	0.07803	0.08970296	0.20966	0.05678848	0.10207	-4.892	0.35645	T	0.2263219147927743	0.30587	0.103	0.20078	B	.;.;.	.;.;.	2.422899	0.31160	18.66	0.9836839289366679	0.40719	0.48930	0.28318	N	AEFBI	0.174960	0.30211	N	-0.483295737506183	0.22627	1.209593	-0.458952080881223	0.23295	1.269628	0.777259662961855	0.23773	0.706298	0.61202	0	0.574621	0.32753	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.5	1.43	0.21585	0.751000	0.26013	1.748000	0.28453	0.676000	0.76740	0.969000	0.34210	1.000000	0.68203	0.996000	0.76049	0.2417:0.1093:0.5369:0.1121	3.420	0.06964	678	0.60190	EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1351.33	45	chr14	91881380	.	G	T	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=799;ExcessHet=0;FS=2.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.323;SOR=0.994	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1365,0,1234	18	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.07895	4196.79	41	chr14	92652445	.	A	C	4196.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1089;ExcessHet=0.3672;FS=0.785;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.086;SOR=0.747	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1349,0,1749	16	0	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:100,16:116:99:170,0,3237	1	0	17	1
chr14	94497803	94497803	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595A:p.G199S,SERPINA12:NM_001382267:exon2:c.G595A:p.G199S,SERPINA12:NM_173850:exon3:c.G595A:p.G199S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0220697038607	.	.	1.657e-05	0	8.655e-05	0	0	0	0	6.138e-05	1.29e-05	2	154602	rs780543581	9.599e-06	1.094e-05	1.091e-05	8.274e-06	4.535e-05	5.57e-06	4.36e-06	9.28e-06	4.57e-06	3.007e-05	4.535e-05	0	0	1.874e-05	0	4.504e-06	3.32e-05	3.494e-05	6.596e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.536	0.06891	T	0.763	0.04587	T	0.061	0.23190	B	0.032	0.22131	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.55	0.14455	N	-2.22	0.87038	D	-1.26	0.31778	N	0.059	0.03069	-0.8314	0.53211	T	0.312	0.68201	T	10	0.03345543	0.01523	T	0.02207	0.44919	T	0.086	0.25016	0.407	0.44066	0.203808441222	0.19973	0.5860574252687961	0.58535	0.0946809584513	0.10693	0.310091733932	0.11920	T	0.033973	0.23133	T	-0.299241	0.08733	T	-0.491769	0.23205	T	0.183420419692993	0.19449	T	0.660634	0.26999	T	0.23565502	0.46404	0.11694767	0.28232	0.23565502	0.46404	0.11694767	0.28231	-0.874	0.00870	T	.	.	0.141	0.32992	B	.;.	.;.	2.120086	0.26987	17.31	0.94329901930839288	0.24663	0.08570	0.14481	N	AEFCI	0.083475	0.16912	N	-0.926895484479263	0.10216	0.4871546	-0.853360606231547	0.13207	0.6838647	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	193.43	89	chr14	94497803	.	C	T	193.43	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.99;DP=1470;ExcessHet=0.119;FS=107.338;InbreedingCoeff=-0.1231;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.736;SOR=6.735	GT:AD:DP:GQ:PL	0/1:100,7:111:99:132,0,3237	13	0	2	4
chr14	94614458	94614458	C	T	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon2:c.C17T:p.P6L,SERPINA3:NM_001384672:exon2:c.C17T:p.P6L,SERPINA3:NM_001384673:exon3:c.C17T:p.P6L,SERPINA3:NM_001384674:exon3:c.C17T:p.P6L	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	402	1116	4	0	0	4	0.00178891	.	.	.	2389787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0207847150305	0.0005	.	0.0008	9.722e-05	0.0006	0	0.0015	0.0010	0.0011	0.0002	0.0006533	101	154602	rs138583013	0.0005	0.0005	0.0005	0.0006	0.0010	0.0005	0.0005	0.0005	0.0005	0.0002	0.0006	0.0004	0	0.0010	0.0010	0.0006	0.0006	0.0001	0.0006	0.0006	0.0004	0.0007	0.0007	0.0005	0.0004	0.0006	0.0005	7.221e-05	0	0.0007	0	0	0.0017	0	0.0007	0	0.0002	0.273	0.19569	T	0.758	0.04669	T	0.061	0.23190	B	0.038	0.23361	B	0.996543	0.07937	N	1.001760	1	0.08975	N	1.06	0.26948	L	-2.06	0.85875	D	-1.29	0.32387	N	0.155	0.16028	-0.8223	0.53790	T	0.300	0.67139	T	10	0.016086698	0.00338	T	0.020785	0.43452	T	0.280	0.59740	.	.	0.461671691612	0.45793	0.20732443865889624	0.20648	0.0112301617491	0.01048	0.294306576252	0.09555	T	0.100506	0.40638	T	-0.340903	0.05325	T	-0.320235	0.42549	T	0.00338800997630741	0.00036	T	0.546745	0.18722	T	0.024086144	0.01207	0.031890433	0.01843	0.024086144	0.01207	0.031890433	0.01842	-3.296	0.13686	T	.	.	0.138	0.36574	B	.;.;.;.	.;.;.;.	-0.015699	0.04177	1.008	0.61300340078560744	0.06674	0.04506	0.10129	N	AEFDBCI	0.171590	0.29857	N	-1.14605329812509	0.05844	0.2675333	-1.14126953986211	0.06926	0.3350556	0.998490299748278	0.37071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.61	-0.277	0.12260	-1.854000	0.01757	-5.156000	0.01827	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	0.0:0.3934:0.3392:0.2673	4.229	0.10048	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1152.33	34	chr14	94614458	.	C	T	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=722;ExcessHet=0;FS=0.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.274;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,39:83:99:0|1:94614458_C_T:1166,0,1299:94614458	18	0	1	0
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	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	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.02632	1258.33	40	chr14	96264403	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=829;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.363;SOR=0.446	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1272,0,982	18	0	1	0
chr14	103698901	103698901	C	T	exonic	XRCC3	.	nonsynonymous SNV	XRCC3:NM_001100118:exon9:c.G938A:p.R313Q,XRCC3:NM_001100119:exon10:c.G938A:p.R313Q,XRCC3:NM_001371229:exon10:c.G938A:p.R313Q,XRCC3:NM_001371231:exon10:c.G938A:p.R313Q,XRCC3:NM_001371232:exon10:c.G938A:p.R313Q,XRCC3:NM_005432:exon10:c.G938A:p.R313Q	.	369	1152	1	0	0	1	0.000433839	.	.	.	3349658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.523	0.231318105299	.	0.000199681	3.374e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs546709768	1.862e-05	1.915e-05	1.781e-05	1.944e-05	0.0001	1.275e-05	1.093e-05	4.096e-05	2.382e-05	0.0001	0	0	0	0	0	1.626e-05	3.339e-05	3.55e-05	3.284e-05	3.281e-05	2.57e-05	4.031e-05	0.0002	1.26e-05	7.98e-06	1.914e-05	1.031e-05	7.22e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	0.31	0.58613	T	-2.97	0.66549	D	0.054	0.21710	0.323	0.87919	D	0.512	0.81685	D	10	0.30141363	0.47684	T	0.231318	0.88270	D	0.523	0.79765	.	.	0.799025041552	0.79715	0.9498023209315896	0.94963	0.78339863091	0.65394	0.393985450268	0.24230	T	0.443426	0.78722	T	-0.0922472	0.37706	T	-0.18564	0.55997	T	0.991003632545471	0.81251	D	0.846915	0.52723	T	0.9035657	0.91704	0.7633996	0.86023	0.9035657	0.91705	0.7633996	0.86023	-8.648	0.65405	D	.	.	0.402	0.59711	A	.;.;.;.;.	.;.;.;.;.	4.476208	0.69796	25.4	0.99944981491112472	0.99886	0.79432	0.39359	D	AEFDGBHCI	0.207899	0.33403	N	0.499742876073421	0.67077	5.033578	0.323354461770233	0.56914	3.855685	0.99999999999997	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.43	4.43	0.52967	0.839000	0.27239	5.765000	0.49707	0.599000	0.40250	0.504000	0.26986	0.999000	0.35428	0.787000	0.37188	0.0:1.0:0.0:0.0	16.161	0.81518	862	0.33134	DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr14	103698901	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.714;DP=752;ExcessHet=0;FS=11.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=0.028;SOR=0.345	GT:AD:DP:GQ:PL	0/1:51,82:133:99:2123,0,1296	18	0	1	0
chr14	104941596	104941596	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G13555A:p.E4519K,AHNAK2:NM_138420:exon7:c.G13855A:p.E4619K	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00391017644183	.	0.000199681	0.0003	0.0001	0.0003	0	0	0.0001	0.0022	0.0012	0.0002781	43	154602	rs539865809	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	8.961e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0007	0.0012	0.0001	0.0001	0.0002	9.397e-05	0.0002	8.658e-05	7.251e-05	5.28e-05	3.046e-05	0.0001	0	0.0002	0.0009	0.0002	0	0	5.879e-05	0.0014	0.0002	0.904	0.02401	T	0.866	0.03352	T	0.08	0.24543	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	5.99	0.00605	T	0.18	0.05035	N	0.052	0.02366	-0.9845	0.33951	T	0.001	0.00222	T	9	0.006616354	0.00150	T	0.00391	0.09211	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00860290293957328	0.00824	.	.	0.244817078114	0.03241	T	0.017731	0.14416	T	-0.677014	0.00050	T	-0.790812	0.02142	T	0.0013861357536164	0.00014	T	0.40286	0.10299	T	0.02737461	0.01921	0.0408804	0.04519	0.02737461	0.01921	0.0408804	0.04519	-1.328	0.01447	T	.	.	0.079	0.07130	B	.	.	-1.033604	0.00725	0.022	0.20820296910252703	0.00766	0.00261	0.01428	N	AEFDBI	.	.	.	-1.88432869561469	0.00370	0.01588867	-1.85359201575699	0.00602	0.02676117	0.818471052505629	0.24481	0.67177	0.52595	0	0.547309	0.14657	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.0	-1.69	0.07747	-1.084000	0.03503	-1.939000	0.04464	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2239:0.166:0.61	4.548	0.11488	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	0.003021	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2985.33	213	chr14	104941596	.	C	T	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.716;DP=3650;ExcessHet=0;FS=2.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.903;SOR=0.526	GT:AD:DP:GQ:PL	0/1:101,112:213:99:2999,0,2635	18	0	1	0
chr14	104950913	104950913	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4238C:p.E1413A,AHNAK2:NM_138420:exon7:c.A4538C:p.E1513A	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00189835385421	0.0003	0.00159744	0.0008	0.0024	0.0026	0	0.0002	0.0001	0.0011	0.0022	0.0007309	113	154602	rs202002473	0.0004	0.0006	0.0003	0.0004	0.0028	0.0003	0.0003	0.0024	0.0022	0.0028	0.0014	7.825e-05	0.0001	1.939e-05	0.0007	0.0002	0.0005	0.0017	0.0008	0.0011	0.0008	0.0008	0.0018	0.0007	0.0007	0.0015	0.0013	0.0018	0	0.0012	0	0.0002	0	0	0.0002	0.0012	0.0013	0.076	0.34269	T	0.313	0.19539	T	0.6	0.39325	P	0.233	0.38358	B	.	.	.	.	1	0.08975	N	2.365	0.68172	M	5.62	0.00808	T	-2.02	0.46503	N	0.193	0.21188	-0.9673	0.37754	T	0.004	0.01400	T	9	0.0065050125	0.00147	T	0.001898	0.03351	T	0.052	0.14661	.	.	0.0297737177859	0.01360	0.011221864502770773	0.01082	.	.	0.209574118257	0.00793	T	0.08377	0.37130	T	-0.572418	0.00214	T	-0.601799	0.12659	T	0.00738633717951077	0.00085	T	0.60194	0.22516	T	0.040579304	0.05817	0.038342047	0.03681	0.040579304	0.05817	0.038342047	0.03681	-10.15	0.74805	D	.	.	0.121	0.25133	B	.	.	0.893859	0.12673	9.198	0.94970680279328679	0.25898	0.07235	0.13259	N	AEFBI	.	.	.	-0.76290440512929	0.14285	0.7103453	-0.988616336885433	0.10041	0.503216	8.9221661839827E-4	0.07974	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.16	-4.07	0.03707	0.148000	0.16042	-5.271000	0.01782	0.603000	0.45986	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1027:0.2789:0.1048:0.5136	2.992	0.05621	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	0.007937	0.006173	0.008287	0.008621	0.000000	0.008772	0.006897	0.008130	0.02632	540.33	70	chr14	104950913	.	T	G	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.363;DP=2700;ExcessHet=0;FS=6.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.98;MQRankSum=-1.25;QD=5.57;ReadPosRankSum=-3.152;SOR=1.698	GT:AD:DP:GQ:PL	0/1:74,23:97:99:554,0,2294	18	0	1	0
chr14	104950937	104950937	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4214C:p.V1405A,AHNAK2:NM_138420:exon7:c.T4514C:p.V1505A	.	447	1070	4	1	0	6	0.0027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00571125444378	.	0.00299521	0.0009	0.0040	0.0033	0.0007	0	0.0002	0.0011	0.0012	0.0009702	150	154602	rs201208145	0.0006	0.0011	0.0006	0.0006	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0021	7.887e-05	0.0007	0.0002	0.0020	0.0004	0.0012	0.0010	0.0020	0.0031	0.0020	0.0019	0.0050	0.0018	0.0017	0.0044	0.0042	0.0050	0	0.0015	0	0.0019	0.0001	0	0.0002	0.0019	0.0012	0.109	0.29288	T	0.11	0.37310	T	0.039	0.21116	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	2.39	0.68882	M	5.46	0.00959	T	-1.71	0.40660	N	0.137	0.13484	-0.9183	0.45783	T	0.004	0.01295	T	9	0.004491329	0.00092	T	0.005711	0.14802	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.004643344942407193	0.00437	.	.	0.252464830875	0.04031	T	0.019876	0.15755	T	-0.569701	0.00222	T	-0.636664	0.09914	T	0.011275037843846	0.00166	T	0.319768	0.06432	T	0.04307916	0.06649	0.037972894	0.03565	0.04307916	0.06649	0.037972894	0.03565	-3.578	0.17539	T	.	.	0.151	0.33412	B	.	.	0.774137	0.11441	8.048	0.92004548075681325	0.21340	0.03024	0.07904	N	AEFBI	.	.	.	-1.03340405883072	0.07917	0.3694327	-1.15566882780084	0.06666	0.3216504	1.63033908453476E-4	0.05721	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.06	-2.23	0.06539	0.776000	0.26365	-4.395000	0.02179	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.456:0.1544:0.3895:0.0	5.411	0.15649	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	0.000571	0.000000	0.000000	0.004310	0.000000	0.000000	0.000000	0.000000	0.05263	1014.83	70	chr14	104950937	.	A	G	1014.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.61;DP=2663;ExcessHet=0.119;FS=17.074;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.2;MQRankSum=-3.291;QD=8.6;ReadPosRankSum=-0.58;SOR=3.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,10:66:99:0|1:104950933_A_T:251,0,2307:104950933	17	0	2	0
chr14	104951903	104951903	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3248C:p.E1083A,AHNAK2:NM_138420:exon7:c.A3548C:p.E1183A	.	433	1086	3	0	0	3	0.00137931	.	.	.	2327480	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00426994293823	0.0018	0.000998403	0.0016	0.0006	0.0022	0	0.0003	0.0022	0.0022	0.0003	0.0016171	250	154602	rs185623099	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0006	0.0026	3.828e-05	0	0.0001	0.0016	0.0031	0.0021	0.0004	0.0018	0.0018	0.0017	0.0018	0.0044	0.0016	0.0015	0.0036	0.0033	0.0008	0	0.0044	0	0	0	0	0.0024	0.0005	0.0002	0.032	0.44694	D	0.3	0.20357	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	5.8	0.00668	T	-2.05	0.47008	N	0.077	0.05162	-0.9269	0.44588	T	0.003	0.00961	T	9	0.009786129	0.00220	T	0.00427	0.10341	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.013726636648198516	0.01330	.	.	0.192866116762	0.00280	T	0.022983	0.17620	T	-0.642516	0.00080	T	-0.698128	0.05929	T	0.0139341785715103	0.00266	T	0.631037	0.24617	T	0.06197569	0.12894	0.043378204	0.05383	0.06197569	0.12894	0.043378204	0.05383	-10.21	0.75159	D	.	.	0.128	0.27433	B	.	.	0.631740	0.10002	6.755	0.42033521378464128	0.03071	0.04986	0.10758	N	AEFBI	.	.	.	-0.977875829515721	0.09077	0.4281501	-1.07131306038227	0.08269	0.4058185	9.87310034621194E-5	0.04910	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	0.191	0.14411	-0.324000	0.08029	-5.202000	0.01808	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1274:0.0895:0.3566:0.4265	2.793	0.05061	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	0.002186	0.000000	0.001366	0.000000	0.000000	0.000000	0.003289	0.003876	0.02632	6470.33	282	chr14	104951903	.	T	G	6470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.144;DP=5871;ExcessHet=0;FS=10.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.82;MQRankSum=13.72;QD=15.3;ReadPosRankSum=0.197;SOR=0.302	GT:AD:DP:GQ:PL	0/1:148,275:423:99:6484,0,5305	18	0	1	0
chr14	105250268	105250268	C	T	exonic	BTBD6	.	nonsynonymous SNV	BTBD6:NM_033271:exon5:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.118607433958	7.7e-05	.	8.403e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs142466787	6.846e-07	6.84e-07	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.50132	D	0.008	0.83351	D	1.0	0.90584	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.77	0.80896	M	-0.91	0.75325	T	-4.57	0.78721	D	0.873	0.89465	0.098	0.84129	D	0.547	0.83360	D	10	0.8539319	0.84582	D	0.118607	0.79869	D	0.748	0.91328	.	.	0.89582373048	0.89479	0.6575853901222518	0.65695	1.23666736194	0.81490	0.873809456825	0.93109	D	0.351157	0.71877	T	0.334026	0.85433	D	0.242029	0.85242	D	0.989055395126343	0.79317	D	0.992576	0.97608	D	0.38737342	0.59845	0.26527688	0.52359	0.38737342	0.59845	0.26527688	0.52358	-14.467	0.94740	D	.	.	0.978	0.90793	P	.;.;.;.;.	.;.;.;.;.	4.795113	0.77860	26.8	0.99905863321029054	0.97651	0.85830	0.45008	D	AEFDGBI	0.732171	0.67902	D	0.521541794590803	0.68366	5.207135	0.435983312864343	0.63822	4.623749	0.999991423459851	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.03	2.93	0.33092	2.183000	0.42195	3.075000	0.36216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5782:0.4218:0.0:0.0	10.068	0.41488	964	0.07719	PHR;PHR;PHR;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2010.33	42	chr14	105250268	.	C	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.42;SOR=0.649	GT:AD:DP:GQ:PL	0/1:93,76:169:99:2024,0,2295	18	0	1	0
chr14	105250517	105250517	G	A	exonic	BTBD6	.	nonsynonymous SNV	BTBD6:NM_033271:exon5:c.G1303A:p.V435I	.	420	1067	35	0	0	35	0.0161365	.	.	.	2817156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0172485145228	0.0022	0.00159744	0.0031	0.0007	0.0009	0	0.0021	0.0030	0.0022	0.0087	0.0029366	454	154602	rs146426875	0.0035	0.0035	0.0033	0.0037	0.0114	0.0034	0.0034	0.0092	0.0088	0.0004	0.0008	0.0034	0	0.0025	0.0114	0.0033	0.0047	0.0096	0.0026	0.0026	0.0027	0.0026	0.0091	0.0024	0.0023	0.0070	0.0062	0.0005	0.0482	0.0008	0.0032	0	0.0026	0.0034	0.0035	0.0024	0.0091	0.858	0.02684	T	1.0	0.01155	T	0.018	0.17786	B	0.02	0.19048	B	0.000047	0.53742	D	0.122234	1	0.81001	D	-0.51	0.02586	N	-0.78	0.73631	T	-0.16	0.09460	N	0.112	0.09914	-1.0398	0.17374	T	0.124	0.42673	T	9	0.011156023	0.00245	T	0.017249	0.38871	T	0.133	0.36157	.	.	0.675984337256	0.67323	0.05744030676576707	0.05685	0.33086531146	0.35168	0.515007555485	0.40924	T	0.030788	0.21743	T	-0.475625	0.00785	T	-0.455987	0.27037	T	0.0229708621100262	0.01020	T	0.947205	0.79675	D	0.046643343	0.07841	0.04550189	0.06137	0.046643343	0.07840	0.04550189	0.06136	-7.861	0.60119	D	.	.	0.06	0.01645	B	.;.;.;.	.;.;.;.	3.296711	0.45235	22.1	0.82675504458545779	0.14316	0.88191	0.48010	D	AEFDGBI	0.449015	0.50400	N	-0.465347205899416	0.23222	1.245561	-0.298541937388865	0.28146	1.567054	0.999998971209955	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.16	3.06	0.34374	4.611000	0.60867	5.057000	0.47051	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.3872:0.0:0.6128:0.0	4.734	0.12359	964	0.07719	PHR;PHR;.;.	.	.	.	.	.	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	0.004532	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	2982.33	42	chr14	105250517	.	G	A	2982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=900;ExcessHet=0;FS=2.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=2.09;SOR=0.864	GT:AD:DP:GQ:PL	0/1:107,110:217:99:2996,0,2582	18	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3148,286,0	0	13	3	3
chr15	22607629	22607629	C	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1810A:p.V604M	.	448	1047	27	0	0	27	0.0127298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.000205736360255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201794505	0.0074	0.0094	0.0074	0.0074	0.0123	0.0073	0.0072	0.0104	0.0102	0.0082	0.0109	0.0099	0.0047	0.0024	0.0123	0.0071	0.0079	0.0110	0.0082	0.0100	0.0085	0.0079	0.0132	0.0078	0.0077	0.0106	0.0096	0.0096	0.0266	0.0081	0.0099	0.0064	0.0019	0.0240	0.0078	0.0079	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3587.77	33	chr15	22607629	.	C	T	3587.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.2;DP=738;ExcessHet=0;FS=0.801;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=48.15;MQRankSum=-0.279;QD=24.41;ReadPosRankSum=0.343;SOR=0.824	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2615,243,0	17	1	1	0
chr15	22768698	22768698	C	T	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	886	635	1	0	0	1	0.000786782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288373912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	0.0008	0	0	0.0004	0.0003	0	0	6.096e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	71.04	.	chr15	22768698	.	C	T	71.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.0171;MLEAC=1;MLEAF=0.033;MQ=52.4;MQRankSum=0.967;QD=23.68;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:22768698_C_T:81,0,36:22768698	14	0	1	4
chr15	22768701	22768701	C	G	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	903	618	1	0	0	1	0.000808407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228210083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0.0002	0.0004	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0.0003	0	0	2.194e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	71.22	.	chr15	22768701	.	C	G	71.22	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=47;ExcessHet=0;FS=0;InbreedingCoeff=-0.0053;MLEAC=1;MLEAF=0.033;MQ=52.4;MQRankSum=0.967;QD=23.74;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:22768698_C_T:81,0,36:22768698	14	0	1	4
chr15	22947286	22947286	C	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324119:exon2:c.G102C:p.R34S	.	477	1033	10	2	0	14	0.00673077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0256853	3971	154602	rs139395765	0.0094	0.0094	0.0094	0.0095	0.0109	0.0093	0.0092	0.0107	0.0107	0.0015	0.0034	0.0009	5.038e-05	0.0029	0.0084	0.0109	0.0080	0.0086	0.0057	0.0057	0.0062	0.0053	0.0110	0.0054	0.0053	0.0089	0.0087	0.0016	0.0077	0.0037	0.0017	0	0.0024	0.0034	0.0095	0.0062	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3627.81	40	chr15	22947286	.	C	G	3627.81	.	AC=2;AF=0.053;AN=38;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.1;SOR=1.081	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3655,339,0	18	1	0	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,66:130:99:.:.:4792,2198,2546:.	0	0	19	0
chr15	24676747	24676747	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A880G:p.I294V	.	418	1101	3	0	0	3	0.00136054	.	.	.	3352068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.000720298722326	.	0.000399361	0.0002	0	0.0002	0	0	0.0003	0.0011	6.074e-05	0.0001746	27	154602	rs139890361	0.0001	0.0001	8.305e-05	0.0001	0.0017	9.051e-05	8.533e-05	0.0009	0.0007	2.987e-05	0.0001	7.653e-05	0	0	0.0017	9.982e-05	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	0.0001	7.895e-05	0	0	0.0001	0.0003	0	0	0	0.0002	0.0014	0.0002	0.196	0.20683	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.8	0.11082	T	0.44	0.03243	N	0.092	0.07125	-0.9393	0.42727	T	0.013	0.05081	T	8	0.021675736	0.00524	T	7.2E-4	0.00472	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.07163261094434235	0.07100	0.0570802132596	0.06311	0.299245327711	0.10289	T	0.001177	0.00676	T	-0.58317	0.00184	T	-0.769483	0.02785	T	0.0244387569516826	0.01201	T	0.225777	0.02969	T	0.083168544	0.19193	0.085530505	0.19756	0.083168544	0.19193	0.085530505	0.19755	-2.302	0.04566	T	.	.	0.121	0.25133	B	.	.	-0.033523	0.04055	0.941	0.22311567455437792	0.00891	0.01863	0.05749	N	AEFDHCI	0.029661	0.02842	N	-1.30672641988461	0.03598	0.1609797	-1.39533411735528	0.03301	0.1537264	0.414778506192137	0.20242	0.487112	0.14033	0	0.573888	0.26702	0	0.596394	0.31383	0	0.564101	0.26826	0	.	.	0.158	0.158	0.14233	0.055000	0.14112	-1.458000	0.05393	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	6592.81	34	chr15	24676747	.	A	G	6592.81	.	AC=2;AF=0.053;AN=38;DP=1700;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.8;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,201:201:99:6620,604,0	18	1	0	0
chr15	28702043	28702043	C	T	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.G1810A:p.V604M	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000407684273791	.	0.000399361	0.0007	0	0.0059	0	0	0.0011	0	0	0.0001617	25	154602	rs201780686	0.0012	0.0016	0.0013	0.0012	0.0031	0.0012	0.0012	0.0027	0.0025	0.0006	0.0031	0.0006	0.0001	0.0002	0.0019	0.0014	0.0014	0.0002	0.0015	0.0022	0.0016	0.0015	0.0040	0.0014	0.0013	0.0032	0.0029	0.0014	0.0110	0.0040	0.0006	0.0004	0.0007	0	0.0013	0.0019	0.0004	0.784	0.03253	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	0.08	0.06026	N	0.062	0.03392	.	.	.	.	.	.	.	0.006243199	0.00141	T	4.08E-4	0.00078	T	.	.	.	.	0.043077524339	0.03247	0.07512464232147913	0.07448	0.618474577823	0.56239	.	.	.	0.001834	0.01251	T	-0.680962	0.00047	T	-0.755547	0.03275	T	.	.	.	0.629237	0.24427	T	0.036643997	0.04547	0.050771635	0.08035	0.036643997	0.04547	0.050771635	0.08035	-5.085	0.37748	T	.	.	0.124	0.26042	B	.	.	0.157835	0.05491	1.955	0.75009169287455679	0.10910	0.00183	0.01069	N	AEFI	0.016202	0.00351	N	.	.	.	.	.	.	1.23880978517913E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.798	-0.662	0.10840	1.126000	0.30958	-0.849000	0.07186	-0.976000	0.01917	1.000000	0.71638	0.000000	0.08366	0.007000	0.07825	0.0:0.3701:0.0:0.6299	2.884	0.05307	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.33	43	chr15	28702043	.	C	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=734;ExcessHet=0;FS=27.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.25;MQRankSum=-3.021;QD=1;ReadPosRankSum=0.935;SOR=4.924	GT:AD:DP:GQ:PL	0/1:73,11:84:98:98,0,2008	18	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:99:0|1:33066576_A_G:657,0,2481:33066576	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:99:0|1:33066576_A_G:657,0,2481:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	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	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,19:86:99:0|1:33066576_A_G:347,0,2638:33066576	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,19:85:99:0|1:33066576_A_G:350,0,2596:33066576	2	0	9	8
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,20:85:99:0|1:33066576_A_G:360,0,2552:33066576	10	0	5	4
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4641.83	36	chr15	33088938	.	T	C	4641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.237;DP=967;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.82;SOR=0.713	GT:AD:DP:GQ:PL	0/1:63,80:143:99:2012,0,1694	17	0	2	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	6365.0	46	chr15	40356171	.	T	*	6365.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.8;DP=946;ExcessHet=8.9063;FS=19.546;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=59.77;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.169;SOR=1.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,19:48:99:.:.:635,0,1104:.	14	0	3	2
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3591.87	34	chr15	40356195	.	T	*	3591.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.14;DP=879;ExcessHet=5.3738;FS=27.404;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.85;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.704;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,19:48:99:.:.:635,0,1104:.	12	0	3	4
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3486.87	33	chr15	40356196	.	G	*	3486.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=2.59;DP=867;ExcessHet=5.3738;FS=29.501;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.78;ReadPosRankSum=-0.412;SOR=2.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,19:48:99:.:.:635,0,1104:.	12	0	3	4
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3442.87	36	chr15	40356197	.	G	*	3442.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.677;DP=861;ExcessHet=5.3738;FS=31.671;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.56;SOR=2.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,19:48:99:.:.:635,0,1104:.	12	0	3	4
chr15	40459821	40459821	G	A	exonic	BAHD1	.	nonsynonymous SNV	BAHD1:NM_001301132:exon2:c.G1357A:p.G453R,BAHD1:NM_014952:exon2:c.G1357A:p.G453R	.	422	1095	5	0	0	5	0.0022779	.	.	.	2732556	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0497670927329	.	.	0.0004	0	0.0006	0	0	0.0002	0	0.0014	0.0002911	45	154602	rs138759345	0.0002	0.0002	0.0002	0.0002	0.0075	0.0002	0.0002	0.0057	0.0051	5.974e-05	0.0004	0.0001	2.519e-05	0	0.0075	9.355e-05	0.0004	0.0012	9.847e-05	9.842e-05	0.0001	8.055e-05	0.0002	6.001e-05	4.876e-05	7.91e-05	5.995e-05	4.81e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.097	0.31834	T	0.31	0.20357	T	0.564	0.38410	P	0.077	0.28532	B	0.000029	0.55875	N	0.158884	0.996761	0.43403	D	0.345	0.11182	N	-0.31	0.68030	T	-0.69	0.21860	N	0.256	0.33140	-0.9052	0.47424	T	0.159	0.49212	T	10	0.03126836	0.01259	T	0.049767	0.63954	D	0.110	0.31079	0.447	0.50629	0.359294529755	0.35537	0.44960988449599926	0.44878	0.435662877071	0.43665	0.351818859577	0.18189	T	0.096423	0.39822	T	-0.402033	0.02245	T	-0.385647	0.35060	T	0.042901280455029	0.04220	T	0.713829	0.32570	T	0.047797047	0.08228	0.07573799	0.16704	0.047797047	0.08227	0.07573799	0.16703	-4.899	0.36193	T	.	.	0.159	0.35119	B	.;.;.	.;.;.	2.975765	0.39681	21.0	0.99589601124968807	0.73513	0.89878	0.50634	D	AEFDBCI	0.448870	0.50392	N	-0.126230763169043	0.36252	2.093014	0.0418880964540686	0.41682	2.508256	0.999999942828869	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	5.17	0.70848	5.930000	0.69823	8.663000	0.77980	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0653:0.0:0.9347:0.0	15.698	0.77276	581	0.69614	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.011696	0.000000	0.008621	0.000000	0.007576	0.02632	1937.33	64	chr15	40459821	.	G	A	1937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.883;DP=966;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.844;SOR=0.846	GT:AD:DP:GQ:PL	0/1:73,79:152:99:1951,0,1672	18	0	1	0
chr15	42958014	42958014	T	C	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon44:c.A4834G:p.R1612G	Johanson-Blizzard syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	0.5576	0.56	.	429667	not_provided|UBR1-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.015320066813	0.0048	0.00319489	0.0055	0.0013	0.0049	0	0.0061	0.0077	0.0055	0.0023	0.0055562	859	154602	rs78948790	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0059	0.0069	0.0068	0.0011	0.0057	0.0027	0	0.0052	0.0078	0.0070	0.0048	0.0018	0.0054	0.0054	0.0055	0.0053	0.0099	0.0051	0.0050	0.0086	0.0081	0.0011	0	0.0099	0.0032	0	0.0055	0.0034	0.0078	0.0057	0.0015	0.107	0.29554	T	0.084	0.41239	T	0.915	0.50599	P	0.236	0.38470	B	0.000006	0.62929	D	0.110120	0.997742	0.81001	D	2.855	0.82945	M	0.79	0.49068	T	-2.51	0.54546	D	0.471	0.50688	-0.9709	0.37009	T	0.091	0.34820	T	10	0.013510913	0.00286	T	0.01532	0.35983	T	0.177	0.44549	.	.	0.57674044448	0.57342	0.7397874352695968	0.73923	0.382795397621	0.39609	0.509729921818	0.40185	T	0.415119	0.76847	T	-0.348751	0.04806	T	-0.268746	0.47945	T	0.0303166855160663	0.02038	T	0.936106	0.76057	D	0.23733293	0.46595	0.2072935	0.44981	0.23733293	0.46595	0.2072935	0.44980	-6.336	0.49007	T	.	.	0.291	0.52243	B	.	.	4.080650	0.60700	24.2	0.99381619934778831	0.61891	0.97967	0.78501	D	AEFBI	0.626260	0.60915	D	0.220732644509983	0.52204	3.396122	0.233264981312213	0.51701	3.350537	0.776528906032286	0.23762	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.95	3.8	0.42887	2.337000	0.43605	4.256000	0.42782	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1476:0.8524	11.766	0.51202	31	0.98186	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.005051	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	982.33	33	chr15	42958014	.	T	C	982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.213;DP=695;ExcessHet=0;FS=6.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.969;SOR=0.355	GT:AD:DP:GQ:PL	0/1:47,45:92:99:996,0,1227	18	0	1	0
chr15	45105795	45105795	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon18:c.G2182A:p.A728T,DUOX2:NM_014080:exon18:c.G2182A:p.A728T	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1465	57	0	0	57	0.0190827	.	.	YES	237177	Thyroid_dyshormonogenesis_6|not_provided|DUOX2-related_disorder|Meckel_syndrome,_type_11	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900|.|MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0058	0.00778754	0.0076	0.0013	0.0118	0	0.0033	0.0104	0.0033	0.0033	0.0074514	1152	154602	rs138353181	0.0078	0.0078	0.0079	0.0078	0.0159	0.0077	0.0076	0.0150	0.0146	0.0014	0.0159	0.0071	2.519e-05	0.0042	0.0121	0.0085	0.0083	0.0031	0.0072	0.0072	0.0067	0.0077	0.0218	0.0069	0.0067	0.0199	0.0191	0.0011	0	0.0218	0.0060	0.0006	0.0039	0.0102	0.0089	0.0128	0.0041	0.374	0.11406	T	0.564	0.08991	T	0.007	0.14184	B	0.002	0.06944	B	0.825073	0.06907	N	1.074620	1	0.08975	N	0.97	0.24054	L	-2.02	0.85542	D	-0.95	0.25332	N	0.038	0.01203	-1.0243	0.22311	T	0.020	0.08313	T	9	0.0038830042	0.00074	T	.	.	.	0.009	0.00846	.	.	0.593685261966	0.59046	0.12669786870932603	0.12595	0.0572892944511	0.06337	0.230289101601	0.01990	T	0.010733	0.33964	T	-0.553604	0.00277	T	-0.55371	0.16972	T	0.000279041109012629	0.00002	T	0.230377	0.03106	T	0.028533112	0.02204	0.061529506	0.11895	0.037409693	0.04789	0.06051655	0.11538	-4.698	0.33380	T	0.13918727483568746	0.15466	0.071	0.03698	B	.;.	.;.	-0.482651	0.01923	0.162	0.89768629720559379	0.19084	0.01838	0.05698	N	AEFDBI	0.063008	0.12147	N	-1.39888798881912	0.02649	0.1172741	-1.41730331490068	0.03079	0.1429207	0.029345584438846	0.13881	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	-3.46	0.04465	0.071000	0.14461	-2.371000	0.03838	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.5971:0.1325:0.2704	9.522	0.38305	596	0.68392	.;.	.	.	.	.	rs138353181	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.021739	0.011696	0.000000	0.025862	0.012195	0.022727	0.1053	4785.43	35	chr15	45105795	.	C	T	4785.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.76;DP=903;ExcessHet=0.7564;FS=1.252;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.15;SOR=0.621	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1084,0,917	15	0	4	0
chr15	45111566	45111566	C	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G533T:p.W178L,DUOX2:NM_014080:exon6:c.G533T:p.W178L	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	340644	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.275683824932	.	0.000199681	0.0007	0	0	0	0	0.0020	0	0	0.0001229	19	154602	rs190660925	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0020	0	0	0.0002	0.0002	0.0004	1.262e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0.0014	0	0	0	0.0003	0	0	0.005	0.63226	D	0.153	0.32144	T	0.933	0.52105	P	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-0.5	0.70480	T	-9.78	0.98656	D	0.752	0.76111	-0.2210	0.77125	T	0.349	0.71359	T	9	0.24246252	0.41443	T	0.275684	0.90046	D	0.541	0.80842	.	.	0.831131423515	0.82952	0.6623747631141079	0.66174	0.725402708642	0.62444	0.747200727463	0.74034	T	0.104033	0.75121	T	0.136286	0.67970	D	0.258313	0.86013	D	0.870914280414581	0.52081	D	0.958204	0.84269	D	0.8439663	0.86893	0.8401107	0.90845	0.8439663	0.86895	0.8401107	0.90846	-10.92	0.79218	D	0.7993362048865944	0.87640	0.793	0.76966	P	.;.	.;.	5.358640	0.89866	31	0.98578781335488219	0.43206	0.99006	0.89858	D	AEFDBHCI	0.912475	0.87316	D	0.760365258602184	0.83578	8.054349	0.737469652162456	0.85217	8.51544	0.999999999999989	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.625000	0.82323	6.774000	0.56567	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.617	0.87971	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	0.001564	0.000000	0.001416	0.000000	0.050000	0.000000	0.003205	0.000000	0.02632	968.33	33	chr15	45111566	.	C	A	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=654;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-0.794;QD=16.41;ReadPosRankSum=1.32;SOR=0.992	GT:AD:DP:GQ:PL	0/1:24,35:59:99:982,0,674	18	0	1	0
chr15	50309761	50309761	G	A	exonic	GABPB1	.	nonsynonymous SNV	GABPB1:NM_002041:exon2:c.C38T:p.A13V,GABPB1:NM_005254:exon2:c.C38T:p.A13V,GABPB1:NM_016654:exon2:c.C38T:p.A13V,GABPB1:NM_016655:exon2:c.C38T:p.A13V,GABPB1:NM_001320910:exon3:c.C38T:p.A13V,GABPB1:NM_001320915:exon3:c.C38T:p.A13V,GABPB1:NM_181427:exon3:c.C38T:p.A13V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.0681979536837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	6.841e-06	4.087e-06	6.88e-06	2.522e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.522e-05	0	0	6.299e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.978	0.86255	D	0.000002	0.62929	D	0.057767	1	0.81001	D	2.255	0.64187	M	-0.43	0.69657	T	-3.22	0.69477	D	0.853	0.92784	0.048	0.83205	D	0.508	0.81469	D	10	0.85302496	0.84488	D	0.068198	0.70384	D	0.673	0.87917	0.738	0.87063	0.881034579085	0.87986	0.9769245798725921	0.97682	2.76338610155	0.98759	0.876190602779	0.93441	D	0.344898	0.71335	T	0.321449	0.84575	D	0.223963	0.84373	D	0.990268588066101	0.80481	D	0.985201	0.98122	D	0.59701926	0.72530	0.6149629	0.77589	0.59701926	0.72531	0.6149629	0.77590	-11.025	0.79796	D	.	.	0.963	0.90395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.737854	0.93314	33	0.99915257984697181	0.98379	0.99185	0.92484	D	AEFBI	0.877449	0.80209	D	0.879396899318992	0.90715	10.53125	0.864028821638829	0.93809	12.295	0.999999999873933	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.48	5.48	0.80675	10.003000	0.99689	11.743000	0.95236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.354	0.94396	716	0.55970	.;Ankyrin repeat-containing domain;.;.;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	34	chr15	50309761	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.777;DP=848;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.697;SOR=0.507	GT:AD:DP:GQ:PL	0/1:80,62:142:99:1367,0,1981	18	0	1	0
chr15	56094836	56094836	-	GGGGTT	exonic	RFX7	.	nonframeshift insertion	RFX7:NM_001368073:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001368074:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001370554:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_022841:exon10:c.2891_2892insAACCCC:p.T965_S966insPT,RFX7:NM_001370561:exon12:c.2891_2892insAACCCC:p.T965_S966insPT	.	433	1075	13	1	0	15	0.00692841	.	.	.	971021	Neurodevelopmental_disorder|not_provided	MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0.0039	0.0009	0.0073	0.0017	0.0004226	11	26028	rs766009038	0.0018	0.0019	0.0018	0.0018	0.0028	0.0017	0.0017	0.0022	0.0021	9.225e-05	0.0008	4.148e-05	0	0.0070	0.0028	0.0017	0.0018	0.0024	0.0018	0.0018	0.0019	0.0017	0.0034	0.0016	0.0015	0.0021	0.0019	0.0002	0.0055	0.0003	0	0	0.0071	0.0034	0.0023	0.0005	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2805.79	35	chr15	56094836	.	C	CGGGGTT	2805.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.882;DP=927;ExcessHet=0.119;FS=3.854;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.478;SOR=0.486	GT:AD:DP:GQ:PL	0/1:89,35:124:99:1106,0,3547	17	0	2	0
chr15	60468129	60468129	T	G	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001276385:exon4:c.A340C:p.K114Q,ICE2:NM_024611:exon4:c.A340C:p.K114Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00830054989576	.	.	4.947e-05	0	0.0002	0	0	1.5e-05	0.0011	0.0001	3.88e-05	6	154602	rs748547524	7.389e-05	7.388e-05	5.854e-05	8.939e-05	0.0050	6.248e-05	5.808e-05	0.0036	0.0031	5.974e-05	0.0001	0	0	0	0.0050	4.677e-05	0.0002	0.0001	2.625e-05	2.625e-05	5.138e-05	0	2.405e-05	8.13e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.009	0.58626	D	0.0	0.92824	D	0.954	0.54400	P	0.554	0.49340	P	0.000050	0.53742	D	0.194671	0.519801	0.81001	D	.	.	.	.	.	.	-1.37	0.60507	N	0.601	0.62950	-0.8305	0.53270	T	0.159	0.49279	T	9	0.274957	0.45051	T	0.008301	0.21979	T	0.093	0.26882	0.358	0.36060	0.646007317467	0.64307	0.512059294879519	0.51127	0.141266316295	0.15928	0.59004843235	0.51500	T	0.216535	0.57873	T	-0.148869	0.28488	T	-0.182316	0.56309	T	0.097178190946579	0.12043	T	0.815218	0.46991	T	0.20045169	0.42020	0.1766743	0.40218	0.20045169	0.42020	0.1766743	0.40217	-4.371	0.29161	T	.	.	0.142	0.31832	B	.;.;.;.	.;.;.;.	4.269369	0.64944	24.8	0.99417213396951831	0.63597	0.96434	0.69120	D	AEBI	0.539992	0.55674	D	0.471532398906377	0.65436	4.822113	0.550566393939545	0.71437	5.654692	0.999999993705285	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	4.922000	0.63103	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.203	0.65261	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008586	0.000000	0.006793	0.032164	0.000000	0.017241	0.000000	0.000000	0.02632	1519.33	42	chr15	60468129	.	T	G	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=746;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.702;SOR=0.964	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1533,0,1479	18	0	1	0
chr15	64680355	64680355	C	T	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon7:c.C3940T:p.P1314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.267696966149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.104	0.38160	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	-1.06	0.76819	T	-4.85	0.81107	D	0.676	0.68342	0.321	0.87892	D	0.621	0.86655	D	10	0.7567622	0.76040	D	0.267697	0.89757	D	0.526	0.79947	0.203	0.11797	0.440737469742	0.43695	0.7114887581674972	0.71090	0.951127366345	0.72634	0.822704136372	0.85443	D	0.473845	0.80554	T	0.141393	0.68457	D	-0.0346757	0.68058	D	0.997464299201965	0.91620	D	0.951205	0.81406	D	0.7612366	0.81526	0.6436896	0.79174	0.7612366	0.81528	0.6436896	0.79175	-3.158	0.11975	T	.	.	0.908	0.83281	P	.	.	4.663389	0.74453	26.2	0.99881121547624285	0.95733	0.99224	0.93061	D	AEFDGBI	0.806215	0.73058	D	0.794051412586165	0.85731	8.664839	0.772590587991645	0.87832	9.360351	0.999999999999986	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.28	5.28	0.74118	7.565000	0.81337	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.903	0.92423	277	0.89083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1072.33	35	chr15	64680355	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.25;DP=699;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=0.465;SOR=0.439	GT:AD:DP:GQ:PL	0/1:26,38:64:99:1086,0,741	18	0	1	0
chr15	67202874	67202874	T	C	exonic	AAGAB	.	nonsynonymous SNV	AAGAB:NM_001271885:exon10:c.A568G:p.I190V,AAGAB:NM_001271886:exon10:c.A568G:p.I190V,AAGAB:NM_024666:exon10:c.A895G:p.I299V	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant	11	1509	1	1	0	3	0.000993049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0119570458199	.	.	2.485e-05	0	0	0.0002	0	1.499e-05	0	0	1.94e-05	3	154602	rs755609670	6.088e-05	6.088e-05	5.99e-05	6.188e-05	0.0019	5.028e-05	4.672e-05	0.0016	0.0014	0	0	0	0.0019	3.744e-05	0	6.295e-06	3.312e-05	2.319e-05	6.571e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.016	0.51853	D	0.026	0.55759	D	0.984	0.60733	D	0.771	0.56890	P	0.000001	0.62929	D	0.097574	0.999846	0.49770	D	1.63	0.41750	L	0.61	0.53731	T	-0.75	0.21644	N	0.448	0.50056	-0.7495	0.57961	T	0.213	0.57428	T	10	0.33383805	0.50567	T	0.011957	0.30096	T	0.258	0.56959	0.683	0.82078	0.36355261348	0.35965	0.20296439143746822	0.20213	0.0453724689316	0.04917	0.517038106918	0.41209	T	0.008245	0.07584	T	-0.171856	0.24954	T	-0.220207	0.52718	T	0.403377522977854	0.29069	T	0.905809	0.66782	D	0.18645163	0.40054	0.12614071	0.30383	0.18645163	0.40054	0.12614071	0.30382	-7.993	0.61023	D	.	.	0.204	0.42934	B	.;.;.	.;.;.	3.656173	0.51914	23.2	0.99866843898643354	0.94457	0.95909	0.66678	D	AEFBI	0.618356	0.60419	D	0.484586234644574	0.66190	4.918142	0.459062224575262	0.65302	4.806526	0.999998481587185	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.95	3.82	0.43153	7.079000	0.76510	5.107000	0.47483	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.514	0.32396	902	0.24074	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr15	67202874	.	T	C	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=790;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:71,96:167:99:2238,0,1751	18	0	1	0
chr15	68214332	68214332	G	C	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon3:c.C255G:p.F85L	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	202887	Neuronal_ceroid_lipofuscinosis|Ceroid_lipofuscinosis,_neuronal,_6A|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|not_provided	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.305962636153	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs545955828	8.209e-06	8.209e-06	5.445e-06	1.1e-05	5.038e-05	4.38e-06	3.46e-06	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	8.094e-06	1.656e-05	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.289	0.17881	T	0.209	0.43344	T	0.058	0.22967	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999365	0.81001	D	1.63	0.41750	L	-3.45	0.94469	D	-3.6	0.71519	D	0.554	0.61511	0.081	0.83822	D	0.758	0.91753	D	10	0.5620337	0.64842	D	0.305963	0.91034	D	0.634	0.85975	0.26	0.20315	0.948843343272	0.94830	0.7657886769211482	0.76527	0.3584328335	0.37553	0.774287283421	0.78067	T	0.92493	0.98684	D	0.128889	0.67253	D	0.116492	0.78001	D	0.207955035035181	0.20846	T	0.842016	0.51794	T	0.39935228	0.60687	0.28356335	0.54351	0.39935228	0.60687	0.28356335	0.54350	-6.435	0.49782	T	0.15144467655019986	0.17868	0.684	0.80343	P	.;.;.;.	.;.;.;.	3.177690	0.43117	21.7	0.99729811881943975	0.82690	0.88303	0.48170	D	AEFGBCI	0.674354	0.64010	D	0.322382158774563	0.57298	3.896733	0.276708082021953	0.54182	3.584022	0.999656181275305	0.41424	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.36	1.94	0.25058	2.205000	0.42407	2.813000	0.34919	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2244:0.0:0.7756:0.0	12.001	0.52520	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1618.33	35	chr15	68214332	.	G	C	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.396;DP=750;ExcessHet=0;FS=3.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.804;SOR=0.443	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1632,0,1426	18	0	1	0
chr15	71757974	71757974	C	T	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon9:c.C1408T:p.P470S,THSD4:NM_024817:exon14:c.C2488T:p.P830S	.	425	1095	2	0	0	2	0.000912409	.	.	.	2208569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0172480997388	.	.	2.546e-05	0	0	0	0	4.578e-05	0	0	1.94e-05	3	154602	rs769013005	1.71e-05	1.71e-05	1.361e-05	2.063e-05	0.0016	1.174e-05	9.92e-06	0.0008	0.0006	0	0	0	0	0	0.0016	1.169e-05	3.312e-05	1.159e-05	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.183	0.21718	T	0.183	0.35840	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.89	0.50145	L	0.21	0.59983	T	-2.29	0.63669	N	0.718	0.72031	-0.7917	0.55630	T	0.241	0.60964	T	9	0.69867676	0.72305	D	0.017248	0.38871	T	0.303	0.62400	.	.	0.689260827116	0.68659	0.50379126218499	0.50301	0.151937623519	0.17149	0.751294970512	0.74636	T	0.057456	0.30570	T	0.0188792	0.54231	T	-0.0802067	0.64888	T	0.47478061914444	0.31706	T	0.89481	0.63428	D	0.11635936	0.27445	0.16093315	0.37459	0.11635936	0.27445	0.16093315	0.37458	-3.365	0.14589	T	.	.	0.607	0.69173	P	.;.	.;.	4.959575	0.81993	27.7	0.998798432468465	0.95653	0.94143	0.60242	D	AEFDBHCIJ	0.918583	0.88785	D	0.560166761031035	0.70704	5.540672	0.598831655865122	0.74855	6.208774	0.999999999999999	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.746000	0.68317	7.523000	0.59793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.938	0.79522	931	0.16308	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2187.33	40	chr15	71757974	.	C	T	2187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638;DP=929;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.05;SOR=0.729	GT:AD:DP:GQ:PL	0/1:59,87:146:99:2201,0,1575	18	0	1	0
chr15	77180995	77180995	T	C	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon5:c.A932G:p.D311G,PEAK1:NM_001385027:exon6:c.A932G:p.D311G,PEAK1:NM_001385026:exon7:c.A932G:p.D311G	.	425	1096	1	0	0	1	0.000455996	.	.	.	3372247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.652	0.0423133120696	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs781724497	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0002	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	0	0	0.0002	2.788e-05	1.656e-05	0	4.598e-05	4.596e-05	5.138e-05	4.034e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.823e-05	0	0	0	0	0	0	7.349e-05	0	0	0.005	0.63226	D	0.033	0.53072	D	1.0	0.90584	D	0.996	0.84481	D	0.004198	0.34013	U	0.000000	0.999995	0.58761	D	1.1	0.28011	L	-1.32	0.79761	T	-1.63	0.51968	N	0.842	0.89020	0.180	0.85572	D	0.543	0.83185	D	10	0.6904838	0.71824	D	0.042313	0.60398	D	0.652	0.86886	0.435	0.48664	0.762932097285	0.76077	0.712965908179204	0.71238	0.427500562777	0.43095	0.761319756508	0.76125	T	0.045559	0.55521	T	0.316394	0.84214	D	0.232188	0.84777	D	0.704029679298401	0.40910	D	0.906909	0.68653	D	0.21960443	0.44496	0.20991816	0.45356	0.21960443	0.44496	0.20991816	0.45355	-4.899	0.35724	T	.	.	0.915	0.84598	P	.;.;.;.	.;.;.;.	4.738540	0.76397	26.5	0.99786880632512198	0.87308	0.98351	0.81900	D	AEFDGBIJ	0.909514	0.86625	D	0.627890076153303	0.74944	6.219814	0.649831955629671	0.78596	6.908592	0.999999999999986	0.74766	0.706298	0.61202	0	0.633563	0.54681	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.862000	0.85432	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.247	0.73208	378	0.83833	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2438.33	33	chr15	77180995	.	T	C	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.305;DP=801;ExcessHet=0;FS=5.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=1.2;SOR=0.419	GT:AD:DP:GQ:PL	0/1:52,85:137:99:2452,0,1375	18	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:36,15:51:4:4,0,723	9	0	10	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,19:37:99:.:.:438,0,556:.	14	0	5	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,19:37:99:.:.:438,0,556:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,19:37:99:.:.:438,0,556:.	9	0	10	0
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	847.21	63	chr15	84240189	.	C	T	847.21	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.014;DP=851;ExcessHet=1.383;FS=16.586;InbreedingCoeff=-0.1671;MLEAC=5;MLEAF=0.139;MQ=33.66;MQRankSum=0.219;QD=4.48;ReadPosRankSum=-0.05;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,11:51:99:0|1:84240169_A_G:341,0,1628:84240169	13	0	5	1
chr15	84512208	84512208	C	G	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	1.628e-05	2.115e-05	1.768e-05	1.509e-05	0.0010	8e-06	5.06e-06	0.0002	7.062e-05	0	0	0	0	0	0.0010	1.356e-05	0	3.782e-05	9.457e-06	6.719e-06	1.849e-05	0	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	198.33	36	chr15	84512208	.	C	G	198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.551;DP=630;ExcessHet=0;FS=4.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.96;MQRankSum=-1.548;QD=3.67;ReadPosRankSum=-1.762;SOR=0.063	GT:AD:DP:GQ:PL	0/1:43,11:54:99:212,0,1472	18	0	1	0
chr15	86522829	86522829	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon19:c.G2575A:p.G859R	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0398568303275	0.0002	.	5.807e-05	0.0001	0	0	0	6e-05	0	0.0001	4.53e-05	7	154602	rs372004187	4.243e-05	4.309e-05	5.447e-05	3.026e-05	0.0003	3.377e-05	3.066e-05	6.094e-05	3.491e-05	8.965e-05	0	0	0	0	0.0003	4.948e-05	0	2.319e-05	3.286e-05	3.284e-05	5.14e-05	1.345e-05	6.547e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.83e-05	0	6.547e-05	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.952	0.54136	P	0.411	0.44827	B	0.000084	0.51296	D	0.076157	0.988001	0.40687	D	3.5	0.92762	M	.	.	.	.	.	.	.	.	-0.7090	0.60002	T	0.112	0.40052	T	10	0.63041073	0.68483	D	0.039857	0.59048	D	0.338	0.66010	0.865	0.96050	0.425148423609	0.42132	0.5929296809942621	0.59222	0.0634877606661	0.07066	0.547682762146	0.45530	T	0.246663	0.61617	T	0.0547102	0.58947	T	0.0774795	0.75409	D	0.964524209499359	0.66984	D	0.972478	0.96942	D	0.22482793	0.45132	0.33925298	0.59693	0.22482793	0.45132	0.33925298	0.59692	.	.	.	.	.	0.224	0.71636	B	.;.;.	.;.;.	4.831183	0.78788	27.0	0.99919357166938738	0.98654	0.93709	0.58967	D	AEFDBI	0.621645	0.60626	D	0.636797394578181	0.75517	6.319976	0.602211581893179	0.75100	6.251229	0.136965391788212	0.17200	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.84	4.93	0.64394	5.260000	0.65309	8.505000	0.77371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0725:0.0:0.9275:0.0	13.977	0.63793	942	0.12992	Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1191.33	34	chr15	86522829	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.2;DP=747;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.147;SOR=0.836	GT:AD:DP:GQ:PL	0/1:71,44:115:99:1205,0,1653	18	0	1	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,57:57:99:.:.:2359,172,0:.	1	15	1	2
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36,UNKL:NM_001372107: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	667.98	41	chr16	1397281	.	G	GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	667.98	.	AC=2;AF=0.059;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=2;MLEAF=0.059;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,1:1:9:.:.:9,0,19:.	15	0	2	2
chr16	1523612	1523612	G	A	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon26:c.C3359T:p.T1120M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1453037	Saldino-Mainzer_syndrome	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0330131640667	.	.	8.314e-06	0	8.676e-05	0	0	0	0	0	6.5e-06	1	154602	rs756215215	9.578e-06	9.577e-06	8.169e-06	1.1e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	5.396e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.066	0.45318	T	0.966	0.56202	D	0.443	0.45803	B	0.160447	0.17680	N	0.607393	0.994593	0.23485	N	0.55	0.14455	N	0.95	0.43279	T	-1.71	0.42957	N	0.24	0.27077	-1.0567	0.12595	T	0.098	0.36728	T	10	0.16076666	0.30173	T	0.033013	0.54684	D	0.107	0.30369	0.368	0.37687	0.418344901717	0.41449	0.1905756107873801	0.18975	0.213286092431	0.23841	0.287868052721	0.08612	T	0.024438	0.18465	T	-0.37032	0.03577	T	-0.593868	0.13333	T	0.26253415881797	0.23425	T	0.922808	0.73493	D	0.032817412	0.03380	0.0663674	0.13585	0.032817412	0.03380	0.0663674	0.13585	-7.055	0.54435	T	0.2897305465120458	0.38613	0.073	0.05800	B	.;.	.;.	2.198644	0.28042	17.66	0.99593377259018501	0.73748	0.75471	0.36953	D	AEFBI	0.245048	0.36605	N	-0.196892730875819	0.33263	1.885165	-0.193111643549158	0.31788	1.802312	0.684725452008437	0.22520	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.67	3.39	0.37919	0.971000	0.28993	0.940000	0.22845	-0.140000	0.12423	0.865000	0.30702	0.991000	0.31484	0.321000	0.24994	0.0:0.0748:0.1429:0.7823	7.922	0.29015	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	591.33	33	chr16	1523612	.	G	A	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.644;SOR=0.659	GT:AD:DP:GQ:PL	0/1:39,24:63:99:605,0,1027	18	0	1	0
chr16	1656903	1656903	C	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon10:c.C2146T:p.R716C	.	390	1128	4	0	0	4	0.00176991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00475746446204	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs771069939	2e-05	2.189e-05	1.551e-05	2.462e-05	0.0005	1.387e-05	1.194e-05	0.0001	7.689e-05	0	2.786e-05	0	0	0	0.0005	1.296e-05	6.895e-05	7.568e-05	4.599e-05	4.596e-05	3.853e-05	5.381e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.125e-05	2.411e-05	0	6.54e-05	0	0	0	0	5.882e-05	0	0.0002	0.133	0.26409	T	0.091	0.40110	T	0.004	0.12183	B	0.002	0.06944	B	0.063348	0.02165	N	1.771920	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.2	0.30555	N	0.114	0.10198	-1.0264	0.21625	T	0.041	0.17657	T	9	0.04719329	0.04005	T	0.004757	0.11879	T	0.009	0.00846	0.288	0.24761	0.043077524339	0.03247	0.1251858504383582	0.12444	0.357716215195	0.37485	0.393870055676	0.24214	T	0.265249	0.63710	T	-0.373461	0.03422	T	-0.646449	0.09204	T	0.0201087277382612	0.00712	T	0.579642	0.20943	T	0.061074544	0.12605	0.027737722	0.00950	0.061074544	0.12605	0.027737722	0.00950	-4.401	0.29571	T	.	.	0.080	0.07985	B	.;.	.;.	0.780944	0.11512	8.110	0.87459917710030854	0.17243	0.12990	0.17599	N	AEFBCI	0.046758	0.07800	N	-1.32930453106373	0.03344	0.1492291	-1.34836698660823	0.03825	0.1792212	0.0399281347380018	0.14416	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	3.48	-0.889	0.10044	0.041000	0.13813	-3.517000	0.02727	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4059:0.2791:0.0:0.315	3.213	0.06292	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	984.33	34	chr16	1656903	.	C	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.332;SOR=0.673	GT:AD:DP:GQ:PL	0/1:56,39:95:99:998,0,1378	18	0	1	0
chr16	1772939	1772939	C	G	exonic	MRPS34	.	nonsynonymous SNV	MRPS34:NM_001300900:exon1:c.G181C:p.E61Q,MRPS34:NM_023936:exon1:c.G181C:p.E61Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.91000417737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.731e-07	6.844e-07	0	1.582e-06	9.644e-07	0	0	.	.	0	0	0	0	0	0	9.644e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.57	0.54347	T	-1.07	0.27876	N	0.519	0.56833	-0.5323	0.67454	T	0.301	0.67186	T	10	0.7900201	0.78579	D	0.910004	0.99328	D	0.303	0.62400	0.691	0.82843	0.315903272564	0.31202	0.6358626023129333	0.63520	2.72839044085	0.98652	0.859533429146	0.91042	D	0.03947	0.55282	T	0.00742358	0.52672	T	-0.227113	0.52051	T	0.983786880970001	0.75324	D	0.876112	0.58827	D	0.3125561	0.54006	0.14441471	0.34287	0.3125561	0.54006	0.14441471	0.34286	-3.681	0.19038	T	0.6225373308768358	0.69106	0.701	0.72983	P	.;.	.;.	4.824903	0.78622	26.9	0.99741510877214623	0.83555	0.94408	0.61070	D	ALL	0.871116	0.79236	D	0.61829938487189	0.74331	6.114764	0.569260482027236	0.72746	5.858928	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.24	4.24	0.49486	3.317000	0.51678	7.237000	0.57889	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.228	0.73059	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1697.33	34	chr16	1772939	.	C	G	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.124;DP=789;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.508;SOR=0.942	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1711,0,1304	18	0	1	0
chr16	2500376	2500376	G	A	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_020705:exon6:c.G1393A:p.A465T,TBC1D24:NM_001199107:exon7:c.G1411A:p.A471T	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	413424	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_1|Autosomal_dominant_nonsyndromic_hearing_loss_65|Caused_by_mutation_in_the_TBC1_domain_family,_member_24|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635|MedGen:CN236805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.00858576409096	8e-05	.	0.0002	0	0.0002	0	0.0004	0.0002	0.0039	0.0003	0.00011	17	154602	rs377448015	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	3.005e-05	0.0005	3.851e-05	0	0.0004	0.0007	0.0001	8.331e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0010	0.0001	0.0001	0.0006	0.0005	4.813e-05	0	0.0010	0	0	0.0003	0	0.0001	0	0.0002	0.617	0.05357	T	0.615	0.07592	T	0.0	0.02946	B	0.001	0.04355	B	0.002674	0.00906	N	2.987030	1	0.08975	N	0.61	0.15665	N	1.98	0.21865	T	-0.37	0.13226	N	0.068	0.04913	-1.0363	0.18450	T	0.035	0.15160	T	10	0.031176627	0.03546	T	0.008586	0.22705	T	0.025	0.05312	.	.	0.252681307341	0.24864	0.1834568673160554	0.18264	0.32686761213	0.34828	0.262539297342	0.05197	T	0.004471	0.03877	T	-0.617205	0.00114	T	-0.781618	0.02405	T	0.00809206108249286	0.00096	T	0.117988	0.17581	T	0.026329888	0.01678	0.03417076	0.02437	0.026329888	0.01677	0.03417076	0.02437	-3.554	0.17281	T	.	.	0.060	0.01026	B	.;.;.;.;.	.;.;.;.;.	-1.262979	0.00471	0.010	0.64440050866227094	0.07494	0.01041	0.03890	N	AEFBI	0.034518	0.04290	N	-1.76658838211243	0.00632	0.02726166	-1.90169309019948	0.00486	0.02152445	0.999987106594581	0.51787	0.651	0.46895	0	0.633656	0.55848	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.14	-10.2	0.00305	-2.967000	0.00734	-1.731000	0.04830	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4393:0.0837:0.393:0.084	5.359	0.15379	706	0.57215	TLDc domain;TLDc domain;TLDc domain;.;TLDc 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	0.000507	0.000000	0.001366	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1635.81	34	chr16	2500376	.	G	A	1635.81	.	AC=2;AF=0.053;AN=38;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.2;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1663,174,0	18	1	0	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	0.029204	0.005051	0.035326	0.064327	0.000000	0.077586	0.006098	0.007576	0.07895	3453.77	38	chr16	3050484	.	A	G	3453.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.751;DP=807;ExcessHet=0;FS=1.357;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.767;SOR=0.838	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2145,186,0	17	1	1	0
chr16	3729328	3729328	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G5605A:p.A1869T,CREBBP:NM_004380:exon31:c.G5719A:p.A1907T	Rubinstein-Taybi syndrome 1, Autosomal dominant	2	1495	22	3	0	28	0.00927767	.	.	.	100956	not_provided|Rubinstein-Taybi_syndrome|not_specified|Inborn_genetic_diseases|CREBBP-related_disorder|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations	MedGen:C3661900|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.504	.	0.0012	0.000399361	0.0037	0.0004	0.0047	0	0.0016	0.0041	0.0106	0.0043	0.001313	203	154602	rs199990883	0.0018	0.0017	0.0017	0.0018	0.0095	0.0017	0.0017	0.0075	0.0068	0.0006	0.0011	0.0009	0	0.0002	0.0095	0.0018	0.0022	0.0029	0.0012	0.0012	0.0013	0.0011	0.0019	0.0011	0.0010	0.0016	0.0015	0.0005	0	0.0012	0.0012	0	0	0.0068	0.0018	0.0029	0.0019	0.514	0.07401	T	0.611	0.07666	T	0.0	0.02946	B	0.0	0.01387	B	0.201395	0.16591	N	0.572541	0.999999	0.08975	N	-0.46	0.02758	N	-1.68	0.82897	D	-0.63	0.20576	N	0.088	0.08925	-0.9290	0.44284	T	0.237	0.60463	T	10	0.009790987	0.00220	T	.	.	.	0.504	0.78600	.	.	0.968663058818	0.96832	0.041331074589899285	0.04078	1.29775370337	0.82942	0.295815706253	0.09779	T	0.387379	0.74831	T	-0.234778	0.16020	T	-0.113697	0.62317	T	0.000868365785217139	0.00008	T	0.705629	0.31713	T	0.033020295	0.03438	0.040099565	0.04256	0.046425015	0.07767	0.039310195	0.03994	-3.319	0.13984	T	0.08630392560766574	0.04955	0.074	0.05188	B	.;.	.;.	0.738444	0.11078	7.728	0.74787087369378624	0.10827	0.06919	0.12945	N	AEFDBCI	0.039201	0.05659	N	-1.06510089072073	0.07294	0.3384261	-1.00519298110135	0.09671	0.4824827	5.08995672654569E-4	0.07176	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.16	-1.17	0.09152	0.353000	0.19868	.	.	-0.177000	0.10537	0.076000	0.22236	0.000000	0.08366	0.756000	0.36000	0.0:0.2676:0.41:0.3224	5.813	0.17738	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010132	0.000000	0.008152	0.008824	0.000000	0.008621	0.018750	0.007576	0.05263	4727.81	42	chr16	3729328	.	C	T	4727.81	.	AC=2;AF=0.053;AN=38;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.83;SOR=2.143	GT:AD:DP:GQ:PL	1/1:0,144:144:99:4755,432,0	18	1	0	0
chr16	4343273	4343273	T	G	exonic	CORO7-PAM16;PAM16	.	nonsynonymous SNV	PAM16:NM_016069:exon2:c.A22C:p.I8L,CORO7-PAM16:NM_001201479:exon28:c.A2791C:p.I931L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0129119065231	.	.	9.634e-06	0	0	0	0	1.745e-05	0	0	6.5e-06	1	154602	rs770706543	5.48e-06	5.472e-06	1.363e-06	9.64e-06	0.0005	2.36e-06	1.7e-06	0.0001	7.552e-05	0	0	0	0	0	0.0005	2.699e-06	3.315e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.17	0.40586	T	0.857	0.47240	P	0.498	0.47596	P	.	.	.	.	0.790607	0.58761	D	1.075	0.27130	L	0.8	0.48769	T	-1.63	0.39119	N	0.618	0.63374	-0.8427	0.52466	T	0.146	0.46985	T	9	0.40547198	0.55862	T	0.012912	0.31889	T	0.139	0.37390	0.554	0.67133	0.458644561121	0.45486	0.8805424867673441	0.88022	0.173007313036	0.19485	0.862156748772	0.91429	D	0.060694	0.31455	T	0.0543559	0.58902	T	-0.159698	0.58380	T	0.453389067710843	0.30922	T	.	.	.	0.41120675	0.61500	0.34473303	0.60166	0.41120675	0.61501	0.34473303	0.60165	-1.803	0.02518	T	.	.	0.270	0.56091	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.658296	0.74329	26.1	0.98749018256952803	0.45633	0.96942	0.71786	D	AEFDBI	0.760194	0.69829	D	0.381788012237126	0.60435	4.232406	0.469378576164829	0.65972	4.891664	0.999999995218261	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.91	5.91	0.95240	4.674000	0.61304	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.010	0.80188	793	0.45818	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	761.33	36	chr16	4343273	.	T	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.072;DP=701;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.679;SOR=0.658	GT:AD:DP:GQ:PL	0/1:36,33:69:99:775,0,930	18	0	1	0
chr16	5084778	5084778	C	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_001330504:exon13:c.C959A:p.A320E,ALG1:NM_019109:exon13:c.C1292A:p.A431E	Congenital disorder of glycosylation, type Ik, Autosomal recessive	207	1304	10	1	0	12	0.00458015	.	.	.	1038442	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0392513883211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370439294	0	2.736e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.268e-05	0.0006	6.459e-05	8.115e-05	0.0002	3.993e-05	3.143e-05	9.657e-05	7.029e-05	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	0.844000	0.09012	N	0.933266	1	0.08975	N	1.01	0.25309	L	-0.87	0.74583	T	0.75	0.02099	N	0.07	0.04913	-0.9704	0.37115	T	0.176	0.52021	T	10	0.050075233	0.04687	T	0.039251	0.58699	D	0.051	0.14325	0.398	0.42590	0.569705540864	0.56636	0.3334758727207182	0.33260	1.36290245596	0.84381	0.335656493902	0.15787	T	0.037257	0.24409	T	-0.13319	0.30981	T	-0.429094	0.30037	T	0.0221786505885773	0.00930	T	0.289271	0.05243	T	0.038093913	0.05009	0.079438284	0.17883	0.038093913	0.05009	0.079438284	0.17883	-4.712	0.35509	T	0.0570100174691765	0.01359	0.106	0.19800	B	.;.;.	.;.;.	0.289681	0.06659	3.161	0.79965488561863474	0.12983	0.05878	0.11826	N	AEFCI	0.063648	0.12314	N	-1.25572321595909	0.04225	0.1902526	-1.21297390761187	0.05701	0.2723729	1.339514752108E-5	0.02871	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.05	0.271	0.14894	0.658000	0.24662	0.277000	0.16723	-0.849000	0.02733	0.187000	0.24151	0.001000	0.17328	0.096000	0.18090	0.2908:0.5493:0.0:0.1599	6.990	0.23933	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	35	chr16	5084778	.	C	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=-6.402;QD=0.46;ReadPosRankSum=-1.433;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,11:76:49:.:.:49,0,1645:.	18	0	1	0
chr16	5090111	5090111	A	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532A:p.F178I,EEF2KMT:NM_201598:exon5:c.T613A:p.F205I,EEF2KMT:NM_201400:exon6:c.T715A:p.F239I	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00634192903378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	6.876e-06	6.225e-05	9.579e-06	4.146e-06	.	3.48e-06	2.54e-06	.	.	0	0	0	0	0.0002	0	0	0	0	5.39e-05	0.0016	7.912e-05	2.756e-05	0.0002	2.614e-05	1.871e-05	8.335e-05	5.972e-05	0.0002	0	6.655e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.718	0.06490	T	0.0	0.02946	B	0.001	0.08700	B	0.051195	0.23004	N	0.452369	0.881992	0.28033	N	.	.	.	2.34	0.16351	T	-1.25	0.32991	N	0.281	0.33030	-0.9925	0.31959	T	0.024	0.10374	T	10	0.07094821	0.10392	T	0.006342	0.16668	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.35754777867292564	0.35668	0.058414084822	0.06474	0.42506146431	0.28533	T	0.004978	0.04407	T	-0.245721	0.14628	T	-0.590737	0.13603	T	0.0609278567135334	0.07315	T	0.593841	0.21938	T	0.08025057	0.18378	0.07948541	0.17899	0.08025057	0.18377	0.07948541	0.17898	-8.801	0.67213	D	.	.	0.214	0.44332	B	.;.;.	.;.;.	1.578377	0.20203	14.64	0.9265268353958801	0.22130	0.35707	0.25364	N	AEFBCI	0.046411	0.07703	N	-0.713611160653821	0.15638	0.7898892	-0.621188378201589	0.18950	1.014565	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	237.54	35	chr16	5090111	.	A	T	237.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.45;DP=737;ExcessHet=0.3672;FS=5.191;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=56.51;MQRankSum=-6.824;QD=1.68;ReadPosRankSum=0.878;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,9:49:99:.:.:104,0,1202:.	17	0	2	0
chr16	5090181	5090181	C	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G462C:p.K154N,EEF2KMT:NM_201598:exon5:c.G543C:p.K181N,EEF2KMT:NM_201400:exon6:c.G645C:p.K215N	.	491	1020	11	0	0	11	0.00536324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00142779162467	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs112795938	4.886e-06	0.0047	4.173e-06	5.605e-06	3.378e-05	2.03e-06	1.31e-06	3e-07	1.1e-07	3.378e-05	2.267e-05	0	0	3.789e-05	0	1.831e-06	0	1.175e-05	0.0005	0.0043	0.0006	0.0004	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0004	0	0.0002	0.0002	0	8.932e-05	0.0010	0.0002	1.0	0.00964	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.00348	N	24.680100	1	0.08975	N	.	.	.	3.32	0.07820	T	1.39	0.00925	N	0.194	0.21319	-0.9860	0.33590	T	0.009	0.03054	T	9	0.041027665	0.02722	T	0.001428	0.02139	T	0.021	0.04004	0.421	0.46365	0.0138822411134	0.00435	0.35689211218005856	0.35603	0.0505833985199	0.05556	0.274089753628	0.06682	T	0.004334	0.03739	T	-0.445631	0.01198	T	-0.877895	0.00672	T	0.0422141074880329	0.04094	T	0.243776	0.03556	T	0.030103331	0.02617	0.032476597	0.01988	0.030103331	0.02617	0.032476597	0.01988	-2.528	0.06466	T	.	.	0.056	0.03849	B	.;.;.	.;.;.	-0.425006	0.02121	0.201	0.52361600507666917	0.04733	0.01856	0.05735	N	AEFBCI	0.019369	0.00666	N	-1.31409601631361	0.03513	0.1570565	-1.35851709106572	0.03707	0.1734453	1.53276252840452E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.636	0.10930	-1.648000	0.02097	0.337000	0.17343	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2087:0.3334:0.3442:0.1137	2.694	0.04812	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	30.48	35	chr16	5090181	.	C	G	30.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=821;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=57.43;MQRankSum=-8.622;QD=0.4;ReadPosRankSum=-0.231;SOR=0.576	GT:AD:DP:GQ:PL	0/1:66,10:76:44:44,0,1860	18	0	1	0
chr16	10694795	10694795	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G79A:p.V27I	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00339457	0.0066	0.0015	0.0029	0	0.0038	0.0091	0.0046	0.0069	0.0065976	1020	154602	rs61731533	0.0096	0.0096	0.0095	0.0097	0.0111	0.0094	0.0094	0.0109	0.0109	0.0013	0.0029	0.0035	5.038e-05	0.0050	0.0066	0.0111	0.0078	0.0068	0.0060	0.0060	0.0063	0.0057	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0022	0.0033	0.0023	0	0.0029	0.0034	0.0103	0.0066	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.014	0.16862	B	0.124729	0.02757	N	1.902590	1	0.08975	N	1.95	0.52479	M	4.26	0.02538	T	0.0	0.07008	N	0.064	0.03613	-0.9154	0.46168	T	0.006	0.01944	T	10	0.0047971606	0.00101	T	.	.	.	0.030	0.07022	.	.	0.0846915920261	0.08053	0.16170722598953352	0.16091	0.0229737181384	0.02324	0.288652807474	0.08726	T	0.005992	0.05431	T	-0.724747	0.00026	T	-0.802794	0.01833	T	0.000307336298735413	0.00002	T	0.359864	0.08266	T	0.020847002	0.00658	0.023667308	0.00380	0.020847002	0.00658	0.023667308	0.00380	-3.793	0.20700	T	.	.	0.072	0.04316	B	.	.	-0.513565	0.01825	0.144	0.42045500763704391	0.03073	0.11876	0.16918	N	AEFDGBI	0.074899	0.15026	N	-1.2717455739678	0.04020	0.1806595	-1.29849188015234	0.04451	0.2099952	0.330834579795098	0.19484	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.46	0.037	0.13513	0.275000	0.18461	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5188:0.0:0.4812	8.111	0.30074	970	0.06235	.	.	.	TEKT5	Testis	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.02632	1196.33	39	chr16	10694795	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.98;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=0.465;SOR=0.64	GT:AD:DP:GQ:PL	0/1:28,45:73:99:1210,0,754	18	0	1	0
chr16	14447062	14447062	C	T	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon22:c.G1552A:p.V518I,PARN:NM_001134477:exon23:c.G1507A:p.V503I,PARN:NM_002582:exon23:c.G1690A:p.V564I	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	431	1041	48	2	0	52	0.0243674	.	.	.	429763	not_provided|Dyskeratosis_congenita,_autosomal_recessive_6|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|not_specified	MedGen:C3661900|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353|MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0073	0.00599042	0.0092	0.0011	0.0038	0	0.0020	0.0106	0.0090	0.0199	0.0090361	1397	154602	rs35722504	0.0094	0.0094	0.0091	0.0097	0.0175	0.0092	0.0092	0.0166	0.0163	0.0012	0.0037	0.0210	5.039e-05	0.0019	0.0175	0.0096	0.0102	0.0173	0.0067	0.0067	0.0069	0.0066	0.0203	0.0064	0.0063	0.0170	0.0158	0.0017	0	0.0066	0.0193	0	0.0015	0.0170	0.0095	0.0099	0.0203	0.079	0.38863	T	0.212	0.26714	T	0.006	0.13644	B	0.006	0.12133	B	0.044615	0.01935	N	2.052200	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.42	0.14193	N	0.054	0.06322	-0.9948	0.31352	T	0.063	0.26065	T	9	0.002854675	0.00046	T	.	.	.	0.119	0.33137	.	.	0.193865811164	0.18958	0.0963495934639145	0.09566	0.110193835077	0.12434	0.251484751701	0.03926	T	0.021653	0.16823	T	-0.615878	0.00117	T	-0.643162	0.09441	T	0.00869064704499961	0.00107	T	0.650635	0.26150	T	0.038499925	0.05140	0.05202924	0.08493	0.036931377	0.04637	0.04864813	0.07268	-4.677	0.36381	T	.	.	0.070	0.04806	B	.;.;.;.	.;.;.;.	1.351161	0.17589	13.25	0.98114141245208752	0.38375	0.11818	0.16881	N	AEFDBI	0.033924	0.04112	N	-0.586871005853647	0.19342	1.011559	-0.481498412176652	0.22663	1.232	0.999999520260864	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.41	4.45	0.53365	0.727000	0.25667	0.255000	0.16475	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.998000	0.85391	0.0:0.8472:0.1528:0.0	13.809	0.62745	923	0.18507	.;.;.;.	.	.	.	.	rs35722504	Likely benign	0	0	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	0.014617	0.010101	0.006793	0.002924	0.200000	0.025862	0.027607	0.022727	0.05263	1473.83	38	chr16	14447062	.	C	T	1473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=766;ExcessHet=0.119;FS=0.671;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.244;SOR=0.586	GT:AD:DP:GQ:PL	0/1:42,28:70:99:773,0,1130	17	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:84,40:124:91:91,0,1251	4	0	15	0
chr16	16131856	16131856	G	A	exonic	ABCC1	.	nonsynonymous SNV	ABCC1:NM_004996:exon27:c.G3887A:p.R1296Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	3185108	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.408	0.133244530802	0.0002	.	0.0003	0.0001	0.0003	0	0.0002	0.0004	0.0011	0	0.0002135	33	154602	rs201761081	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0.0002	0.0026	0	3.744e-05	0.0029	0.0001	0.0004	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	7.896e-05	9.622e-05	0	0.0001	0.0043	0	0	0.0068	0.0002	0.0005	0.0002	0.488	0.08042	T	0.656	0.06598	T	0.016	0.17332	B	0.02	0.19048	B	0.001530	0.38731	N	0.211286	0.83891	0.52935	D	1.09	0.27330	L	-2.69	0.90451	D	-1.22	0.30964	N	0.268	0.30347	0.289	0.87385	D	0.698	0.89583	D	10	0.018219054	0.00394	T	0.133245	0.81561	D	0.408	0.72022	.	.	0.715847506518	0.71335	0.6538008895151833	0.65316	0.392240705154	0.40407	0.29978966713	0.10369	T	0.053311	0.29409	T	-0.152556	0.27912	T	-0.162078	0.58165	T	0.0256046760377467	0.01352	T	0.928707	0.73770	D	0.068600565	0.14958	0.05779455	0.10569	0.068600565	0.14958	0.05779455	0.10568	-6.355	0.49157	T	.	.	0.067	0.04806	B	.;.	.;.	3.074949	0.41348	21.3	0.97655213198774571	0.35160	0.44394	0.27309	N	AEFBI	0.180348	0.30765	N	-0.558653739518662	0.20214	1.063923	-0.4924851936484	0.22359	1.214096	0.713292021662012	0.22845	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	4.15	0.47978	0.838000	0.27225	4.314000	0.42978	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.981000	0.58702	0.0786:0.0:0.9214:0.0	13.074	0.58488	884	0.28482	ABC transporter-like;ABC transporter-like	.	.	.	.	.	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	0.003528	0.000000	0.001359	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	2023.33	38	chr16	16131856	.	G	A	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=804;ExcessHet=0;FS=3.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.124;SOR=0.461	GT:AD:DP:GQ:PL	0/1:82,83:165:99:2037,0,1835	18	0	1	0
chr16	20559281	20559281	C	G	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon3:c.G344C:p.R115P,ACSM2B:NM_182617:exon4:c.G344C:p.R115P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0100404082751	.	.	3.396e-05	0	8.857e-05	0	0	4.598e-05	0	0	4.53e-05	7	154602	rs201089298	8.827e-05	8.824e-05	9.123e-05	8.528e-05	0.0001	7.557e-05	7.103e-05	9.294e-05	8.701e-05	0	0.0001	0	0	0	0	0.0001	3.313e-05	0	7.234e-05	7.223e-05	6.429e-05	8.078e-05	0.0002	3.975e-05	3.13e-05	5.844e-05	4.24e-05	0	0	0.0002	0	0	0	0	0.0001	0	0	0.035	0.57480	D	0.001	0.83351	D	0.996	0.68779	D	0.926	0.66095	D	0.001795	0.37998	N	0.000000	0.786532	0.34332	D	3.35	0.91085	M	0.67	0.52187	T	-6.38	0.91522	D	0.528	0.55799	-0.5150	0.68102	T	0.222	0.58588	T	10	0.65588975	0.69871	D	0.01004	0.26102	T	0.251	0.56024	.	.	0.647759520205	0.64484	0.6529959174666651	0.65235	2.57236916457	0.98018	0.447156667709	0.31556	T	0.075139	0.36487	T	-0.0519246	0.44154	T	-0.0430627	0.67495	D	0.926134824752808	0.58825	D	0.69563	0.45619	T	0.7146452	0.78864	0.6927189	0.81914	0.7146452	0.78865	0.6927189	0.81915	-8.034	0.61302	D	.	.	0.605	0.69078	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.606656	0.33848	19.46	0.99472669476169184	0.66419	0.43899	0.27200	N	AEFI	0.753411	0.69361	D	0.0450550532172585	0.43916	2.675258	-0.142728458493118	0.33688	1.929718	2.31982535445587E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.51	2.55	0.29757	1.135000	0.31067	-4.810000	0.01976	0.414000	0.20733	0.590000	0.27666	0.000000	0.08366	0.394000	0.26647	0.0:0.8939:0.0:0.1061	9.856	0.40253	658	0.62094	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	910.33	37	chr16	20559281	.	C	G	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.066;DP=699;ExcessHet=0;FS=10.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.12;MQRankSum=-1.678;QD=15.97;ReadPosRankSum=0.38;SOR=0.101	GT:AD:DP:GQ:PL	0/1:24,33:57:99:924,0,761	18	0	1	0
chr16	28894904	28894904	C	T	exonic	ATP2A1	.	nonsynonymous SNV	ATP2A1:NM_001286075:exon10:c.C995T:p.T332M,ATP2A1:NM_004320:exon12:c.C1370T:p.T457M,ATP2A1:NM_173201:exon12:c.C1370T:p.T457M	Brody myopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	374323	not_provided|Brody_myopathy	MedGen:C3661900|MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.212696934143	0.0008	0.000998403	0.0002	0.0015	0.0002	0	0	0	0	0.0004	0.000194	30	154602	rs138880727	0.0001	0.0001	0.0001	0.0001	0.0029	9.125e-05	8.655e-05	0.0025	0.0023	0.0029	6.708e-05	0	7.557e-05	0	0	2.698e-06	0.0001	0.0004	0.0008	0.0008	0.0008	0.0009	0.0026	0.0007	0.0007	0.0022	0.0021	0.0026	0	0.0003	0	0.0002	0	0	1.47e-05	0.0005	0.0021	0.062	0.36912	T	0.073	0.43159	T	0.366	0.34016	B	0.025	0.20508	B	0.000005	0.62929	D	0.103865	0.999968	0.52935	D	1.125	0.28843	L	-3.89	0.95984	D	-3.56	0.68880	D	0.595	0.67045	0.682	0.92944	D	0.788	0.92825	D	10	0.055428565	0.06057	T	0.212697	0.87369	D	0.444	0.74657	.	.	0.97177048627	0.97146	0.5636853744976361	0.56295	1.23181786945	0.81364	0.65601170063	0.60840	T	0.583474	0.86396	D	-0.159001	0.26914	T	-0.00671894	0.69898	D	0.121396171570797	0.14565	T	0.935306	0.75759	D	0.43734223	0.63230	0.4131323	0.65495	0.43734223	0.63231	0.4131323	0.65495	-9.315	0.69701	D	.	.	0.185	0.46109	B	.;.;.	.;.;.	4.387368	0.67679	25.1	0.99370293329017523	0.61411	0.89508	0.50017	D	AEFDBCI	0.552001	0.56384	D	0.187532791259697	0.50600	3.24845	0.278516259565632	0.54286	3.594154	0.999999054367371	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.82	4.82	0.61641	4.881000	0.62806	7.700000	0.66237	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	16.706	0.85232	327	0.86637	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	909.33	37	chr16	28894904	.	C	T	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=771;ExcessHet=0;FS=11.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.729;SOR=0.264	GT:AD:DP:GQ:PL	0/1:32,31:63:99:923,0,733	18	0	1	0
chr16	29446947	29446947	T	G	exonic	BOLA2-SMG1P6	.	nonsynonymous SNV	BOLA2-SMG1P6:NM_001320624:exon2:c.A341C:p.E114A,BOLA2-SMG1P6:NM_001320628:exon2:c.A65C:p.E22A,BOLA2-SMG1P6:NM_001320622:exon3:c.A401C:p.E134A,BOLA2-SMG1P6:NM_001320627:exon3:c.A65C:p.E22A	.	842	677	2	1	0	4	0.00294551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331405376	0.0057	0.0039	0.0027	0.0083	0.0505	0.0055	0.0054	0.0488	0.0481	0	0.0002	0	3.606e-05	0	0.0038	2.823e-05	0.0028	0.0505	0.0011	0.0017	0.0007	0.0017	0.0341	0.0009	0.0009	0.0281	0.0259	0.0002	0	0.0001	0	0.0004	0	0	2.564e-05	0.0011	0.0341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	78.59	1	chr16	29446947	.	T	G	78.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.108;DP=223;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0407;MLEAC=1;MLEAF=0.026;MQ=23.68;MQRankSum=-0.18;QD=11.23;ReadPosRankSum=0.328;SOR=2.494	GT:AD:DP:GQ:PL	0/1:3,4:7:64:92,0,64	18	0	1	0
chr16	30010033	30010033	G	T	exonic	DOC2A	.	nonsynonymous SNV	DOC2A:NM_001282068:exon2:c.C190A:p.P64T,DOC2A:NM_003586:exon2:c.C190A:p.P64T,DOC2A:NM_001282062:exon3:c.C190A:p.P64T,DOC2A:NM_001282063:exon3:c.C190A:p.P64T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0277063769461	.	.	8.706e-06	0	0	0	0	1.598e-05	0	0	6.5e-06	1	154602	rs745882272	5.48e-06	5.472e-06	4.089e-06	6.885e-06	0.0004	2.36e-06	1.7e-06	6.976e-05	2.912e-05	0	0	0	0	0	0.0004	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.181	0.29346	T	0.039	0.21116	B	0.01	0.14941	B	0.205536	0.16493	N	0.443700	0.929087	0.27104	N	0.255	0.09829	N	0.05	0.61923	T	-2.08	0.47514	N	0.209	0.23758	-1.0347	0.18951	T	0.123	0.42483	T	10	0.16103932	0.30216	T	0.027706	0.50487	D	0.046	0.12618	0.299	0.26522	0.705084282218	0.70252	0.4782069386018153	0.47740	0.404586298117	0.41356	0.651229858398	0.60160	T	0.100156	0.40566	T	-0.10059	0.36327	T	-0.382267	0.35457	T	0.129864696314409	0.15369	T	0.69753	0.30746	T	0.075018704	0.16873	0.07115847	0.15205	0.075018704	0.16873	0.07115847	0.15204	-4.928	0.36049	T	.	.	0.076	0.08176	B	.;.;.;.;.;.	.;.;.;.;.;.	3.466571	0.48338	22.6	0.96826703422138805	0.31248	0.65615	0.32797	D	AEFDBHCI	0.412760	0.48270	N	-0.34508515703845	0.27453	1.506334	-0.188560299091537	0.31956	1.813369	0.99999267626219	0.74766	0.635344	0.42169	0	0.59043	0.45803	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	4.23	3.22	0.36041	1.882000	0.39283	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2459:0.7541:0.0	9.100	0.35826	76	0.96806	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1042.33	41	chr16	30010033	.	G	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.139;DP=764;ExcessHet=0;FS=3.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.692;SOR=1.108	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1056,0,1198	18	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	1250.38	33	chr16	50669118	.	A	G	1250.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.51;DP=1657;ExcessHet=1.3;FS=136.809;InbreedingCoeff=-0.1517;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.795;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,27:189:99:0|1:50669118_A_G:157,0,5872:50669118	14	0	5	0
chr16	53287980	53287980	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon26:c.A3791G:p.K1264R,CHD9:NM_001352157:exon26:c.A3791G:p.K1264R,CHD9:NM_001352158:exon26:c.A3692G:p.K1231R,CHD9:NM_001382354:exon26:c.A3692G:p.K1231R,CHD9:NM_001382355:exon26:c.A3692G:p.K1231R,CHD9:NM_001308319:exon27:c.A5213G:p.K1738R,CHD9:NM_001352127:exon27:c.A5213G:p.K1738R,CHD9:NM_001382353:exon27:c.A5213G:p.K1738R,CHD9:NM_025134:exon27:c.A5213G:p.K1738R	.	437	1075	10	0	0	10	0.00462963	.	.	.	3393251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.455	0.0467989313257	0.0057	0.00199681	0.0027	0.0010	0.0011	0	0.0005	0.0044	0.0033	0.0004	0.0029948	463	154602	rs61754093	0.0053	0.0055	0.0054	0.0052	0.0064	0.0052	0.0052	0.0063	0.0062	0.0010	0.0017	0.0048	2.521e-05	0.0006	0.0050	0.0064	0.0054	0.0005	0.0031	0.0031	0.0035	0.0026	0.0054	0.0028	0.0027	0.0049	0.0047	0.0009	0	0.0014	0.0075	0	0.0006	0	0.0054	0.0014	0.0008	0.013	0.53900	D	0.066	0.60337	T	0.012	0.18235	B	0.007	0.17743	B	0.000550	0.43413	N	0.099352	0.999934	0.51612	D	2.045	0.56016	M	-2.53	0.89430	D	-2.11	0.48020	N	0.4	0.50598	0.172	0.85430	D	0.596	0.85587	D	10	0.01096943	0.00242	T	0.046799	0.62625	D	0.455	0.75415	.	.	0.803993924541	0.80216	0.30745811959884534	0.30658	0.518460528272	0.49701	0.612384557724	0.54653	T	0.098633	0.40916	T	-0.291238	0.09512	T	-0.185147	0.56044	T	0.0384918282354041	0.03420	T	0.916108	0.72323	D	0.10613941	0.25096	0.1230636	0.29680	0.10613941	0.25096	0.1230636	0.29679	-8.649	0.65877	D	.	.	0.144	0.44188	B	.;.;.;.;.;.	.;.;.;.;.;.	3.416413	0.47413	22.5	0.99828816160221878	0.91112	0.99500	0.96782	D	AEFBI	0.698219	0.65596	D	0.170643659475079	0.49794	3.175823	0.280205423275488	0.54384	3.603623	0.998409254875958	0.36906	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	4.64	0.57399	6.887000	0.75425	6.929000	0.56953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9297:0.0:0.0703:0.0	11.428	0.49266	201	0.92177	.;.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	2203.33	34	chr16	53287980	.	A	G	2203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.145;DP=786;ExcessHet=0;FS=5.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.325;SOR=0.501	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2217,0,2063	18	0	1	0
chr16	57653238	57653238	G	C	exonic	ADGRG1	.	nonsynonymous SNV	ADGRG1:NM_001145773:exon4:c.G538C:p.D180H,ADGRG1:NM_001370429:exon4:c.G523C:p.D175H,ADGRG1:NM_001370430:exon4:c.G523C:p.D175H,ADGRG1:NM_001370432:exon4:c.G523C:p.D175H,ADGRG1:NM_001370433:exon4:c.G538C:p.D180H,ADGRG1:NM_001370435:exon4:c.G523C:p.D175H,ADGRG1:NM_001370438:exon4:c.G523C:p.D175H,ADGRG1:NM_001370439:exon4:c.G523C:p.D175H,ADGRG1:NM_001370441:exon4:c.G523C:p.D175H,ADGRG1:NM_201525:exon4:c.G523C:p.D175H,ADGRG1:NM_001145770:exon5:c.G523C:p.D175H,ADGRG1:NM_001145771:exon5:c.G523C:p.D175H,ADGRG1:NM_001145772:exon5:c.G523C:p.D175H,ADGRG1:NM_001145774:exon5:c.G523C:p.D175H,ADGRG1:NM_001370428:exon5:c.G523C:p.D175H,ADGRG1:NM_001370431:exon5:c.G523C:p.D175H,ADGRG1:NM_001370434:exon5:c.G523C:p.D175H,ADGRG1:NM_001370436:exon5:c.G523C:p.D175H,ADGRG1:NM_001370437:exon5:c.G523C:p.D175H,ADGRG1:NM_001370440:exon5:c.G523C:p.D175H,ADGRG1:NM_001370442:exon5:c.G367C:p.D123H,ADGRG1:NM_005682:exon5:c.G523C:p.D175H,ADGRG1:NM_201524:exon5:c.G523C:p.D175H	Polymicrogyria, bilateral frontoparietal, Autosomal recessive;Polymicrogyria, bilateral perisylvian	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.154903705353	.	.	8.509e-06	0	0	0	0	0	0	6.09e-05	6.5e-06	1	154602	rs769565872	6.164e-06	6.156e-06	2.726e-06	9.636e-06	0.0003	2.9e-06	2.1e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.65419	D	0.047	0.92824	D	0.958	0.54977	D	0.742	0.55764	P	0.056445	0.22559	N	0.432853	1	0.81001	D	.	.	.	0.74	0.92938	T	-0.94	0.78553	N	0.644	0.66101	-0.8727	0.50326	T	0.175	0.51911	T	10	0.29410666	0.46984	T	0.154904	0.83593	D	0.123	0.34020	0.352	0.35084	0.937719759198	0.93707	0.4639340050164574	0.46312	.	.	0.566772222519	0.48222	T	0.163741	0.50892	T	0.0255977	0.55133	T	-0.0194792	0.69062	D	0.511721193790436	0.33061	D	0.873613	0.58243	D	0.0536739	0.10191	0.07743804	0.17249	0.0536739	0.10191	0.07743804	0.17248	-4.601	0.32184	T	0.2326134827486379	0.31484	0.295	0.73251	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.205528	0.43612	21.8	0.99107873282852799	0.52648	0.79067	0.39111	D	AEFDBCI	0.284281	0.39719	N	0.0623776025426772	0.44714	2.740441	-0.043853670054189	0.37758	2.215086	0.999890649774634	0.45129	0.706548	0.73137	0	0.610034	0.51514	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.57	3.6	0.40374	3.063000	0.49672	7.085000	0.57485	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.105:0.0:0.895:0.0	8.782	0.33955	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1255.33	35	chr16	57653238	.	G	C	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.128;SOR=0.656	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1269,0,1332	18	0	1	0
chr16	57731168	57731168	C	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon17:c.C2340A:p.H780Q,DRC7:NM_032269:exon18:c.C2535A:p.H845Q,DRC7:NM_001289162:exon19:c.C2535A:p.H845Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0750161828526	.	.	4.137e-05	0	0	0.0005	0	0	0.0011	0	3.23e-05	5	154602	rs764883309	9.579e-06	9.577e-06	6.807e-06	1.238e-05	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0	8.993e-07	1.656e-05	0	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0006	5.23e-06	2.45e-06	0.0002	8.368e-05	0	0	0	0	0.0006	0	0	0	0	0	0.066	0.37536	T	0.127	0.35082	T	0.999	0.77913	D	0.968	0.71741	D	0.000118	0.50451	D	0.169822	0.942164	0.37361	D	.	.	.	0.85	0.47130	T	-5.21	0.87687	D	0.556	0.58117	-0.4225	0.71310	T	0.290	0.66143	T	10	0.3903907	0.54849	T	0.075016	0.72183	D	0.217	0.51112	0.431	0.48007	0.540835050783	0.53735	0.5387961438789969	0.53804	0.694318581252	0.60760	0.629613399506	0.57091	T	0.272989	0.64542	T	-0.199374	0.20896	T	-0.194162	0.55198	T	0.865470468997955	0.51558	D	0.831917	0.50261	T	0.4612566	0.64749	0.46819538	0.69151	0.4612566	0.64749	0.46819538	0.69152	-7.65	0.58659	D	.	.	0.783	0.76778	P	.;.;.	.;.;.	3.403089	0.47175	22.4	0.99488819630520198	0.67347	0.85483	0.44620	D	AEFI	0.470366	0.51636	N	0.627847986480399	0.74944	6.219317	0.600531562109012	0.74978	6.230087	0.997020916830123	0.35208	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.399000	0.44148	2.178000	0.31107	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.1575:0.8425:0.0:0.0	13.441	0.60562	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2777.33	34	chr16	57731168	.	C	A	2777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=859;ExcessHet=0;FS=2.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.234;SOR=0.863	GT:AD:DP:GQ:PL	0/1:120,115:235:99:2791,0,2926	18	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2171.83	33	chr16	57813723	.	T	*	2171.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.721;DP=861;ExcessHet=0.0107;FS=0.87;InbreedingCoeff=0.4747;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=-0.517;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,36:60:99:0|1:57813722_ATG_A:1440,0,899:57813722	16	2	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369609:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369611:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369608:exon3:c.A29G:p.Y10C,SLC38A7:NM_001369610:exon3:c.A29G:p.Y10C,SLC38A7:NM_018231:exon3:c.A29G:p.Y10C	.	430	1087	5	0	0	5	0.00229463	.	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	Likely benign	0	0	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1055.33	33	chr16	58680098	.	T	C	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=779;ExcessHet=0;FS=5.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.206;SOR=1.348	GT:AD:DP:GQ:PL	0/1:66,39:105:99:1069,0,1823	18	0	1	0
chr16	68371358	68371358	G	C	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon3:c.C824G:p.P275R	.	428	1092	2	0	0	2	0.000914913	.	.	.	2356996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00833162009211	.	.	0.0002	0	0.0002	0	0	0.0003	0	8.493e-05	0.0002005	31	154602	rs758122946	0.0001	0.0002	0.0001	0.0002	0.0037	0.0001	0.0001	0.0025	0.0021	3.053e-05	0.0003	0.0020	0	0	0.0037	9.162e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.692e-05	5.277e-05	2.833e-05	7.213e-05	0	0.0002	0.0026	0	0	0.0034	8.82e-05	0.0014	0	0.046	0.40573	D	0.078	0.42614	T	0.001	0.07471	B	0.001	0.04355	B	0.207101	0.16456	N	0.646067	0.979692	0.25164	N	1.61	0.41143	L	.	.	.	-0.61	0.21003	N	0.162	0.30004	-1.0486	0.14790	T	0.062	0.25708	T	9	0.017626733	0.00378	T	0.008332	0.22055	T	0.070	0.20419	0.305	0.27485	0.117191471859	0.11215	0.28074510826002347	0.27987	0.222330798412	0.24767	0.391058027744	0.23818	T	0.156391	0.49854	T	-0.288668	0.09771	T	-0.353492	0.38805	T	0.0494196995385076	0.05398	T	0.682432	0.29103	T	0.037387438	0.04783	0.09914202	0.23660	0.037387438	0.04783	0.09914202	0.23660	-3.559	0.17267	T	.	.	0.076	0.10208	B	.;.;.	.;.;.	2.351585	0.30146	18.35	0.8527743499499042	0.15793	0.92756	0.56469	D	AEFBI	0.537584	0.55533	D	-0.502753221049579	0.21990	1.171084	-0.37204760964385	0.25834	1.423154	0.999953503598711	0.48110	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.2	4.19	0.48645	2.347000	0.43692	4.595000	0.43974	0.667000	0.69007	0.996000	0.39380	0.999000	0.35428	0.010000	0.09038	0.0:0.0:0.48:0.52	9.563	0.38548	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002725	0.014620	0.000000	0.017241	0.000000	0.000000	0.02632	975.33	45	chr16	68371358	.	G	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.402;DP=709;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.21;SOR=0.968	GT:AD:DP:GQ:PL	0/1:34,39:73:99:989,0,1004	18	0	1	0
chr16	69187566	69187566	C	A	exonic	SNTB2	.	nonsynonymous SNV	SNTB2:NM_006750:exon1:c.C400A:p.R134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.123091542484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866597694	1.471e-06	8.893e-06	1.452e-06	1.49e-06	6.412e-05	2.4e-07	9e-08	1.062e-05	3.97e-06	0	0	0	6.412e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.743	0.43037	P	0.356	0.43023	B	0.003236	0.35241	N	0.249386	0.999999	0.58761	D	0.125	0.08623	N	1.82	0.25018	T	-2.9	0.60827	D	0.3	0.33904	-1.1192	0.02383	T	0.052	0.22114	T	10	0.2930761	0.46883	T	0.123092	0.80420	D	0.108	0.30607	0.474	0.55020	0.610613400217	0.60748	0.7261534639123018	0.72559	1.97820565408	0.93628	0.840588092804	0.88183	D	0.369357	0.73408	T	-0.0882037	0.38372	T	-0.364475	0.37534	T	0.851003706455231	0.50253	D	0.931607	0.74555	D	0.73116463	0.79789	0.6034624	0.76955	0.73116463	0.79790	0.6034624	0.76956	-9.664	0.71876	D	.	.	0.837	0.79086	P	.	.	4.016000	0.59280	24.1	0.99252235682974832	0.56924	0.08980	0.14824	N	AEFDBHCIJ	0.164474	0.29087	N	-0.058869449460877	0.39207	2.308398	-0.037287428677271	0.38044	2.235975	0.999999999996625	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.84	3.89	0.44098	0.892000	0.27957	5.571000	0.48943	0.580000	0.29708	0.757000	0.29209	1.000000	0.68203	0.995000	0.73285	0.1637:0.7488:0.0:0.0875	7.533	0.26864	102	0.95784	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	.	.	.	.	.	.	.	.	0.02632	307.33	35	chr16	69187566	.	C	A	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.439;SOR=0.839	GT:AD:DP:GQ:PL	0/1:25,14:39:99:321,0,599	18	0	1	0
chr16	70463641	70463641	A	G	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon3:c.A101G:p.K34R	.	416	1105	1	0	0	1	0.000452284	.	.	.	3256996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00543952984423	.	.	2.503e-05	0	0	0	0	1.515e-05	0	0.0001	1.94e-05	3	154602	rs757254446	2.6e-05	2.599e-05	2.315e-05	2.889e-05	0.0007	1.933e-05	1.693e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-05	3.313e-05	0.0001	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.365	0.11732	T	0.677	0.17585	T	0.002	0.09854	B	0.002	0.06944	B	0.001162	0.39978	N	0.211687	1	0.81001	D	-0.305	0.03614	N	3.34	0.42502	T	-0.66	0.19085	N	0.189	0.22098	-1.0601	0.11731	T	0.045	0.19234	T	10	0.053344876	0.05511	T	0.00544	0.13984	T	0.045	0.12272	0.267	0.21418	0.466059976078	0.46230	0.21183611874079974	0.21099	0.0531325948956	0.05856	0.515987753868	0.41062	T	0.072333	0.42074	T	-0.355312	0.04402	T	-0.545503	0.17760	T	0.0565655857801841	0.06616	T	0.692631	0.32987	T	0.015141967	0.00124	0.026226984	0.00701	0.015141967	0.00124	0.026226984	0.00701	-0.92	0.01121	T	.	.	0.069	0.03661	B	.;.;.;.;.;.	.;.;.;.;.;.	2.226972	0.28424	17.79	0.96631552237445739	0.30516	0.79007	0.39071	D	AEFBI	0.177310	0.30455	N	-0.423223530801497	0.24657	1.332937	-0.228969255392804	0.30503	1.718012	5.13167034785591E-4	0.07201	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.05	3.92	0.44525	2.125000	0.41639	7.688000	0.65646	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.5563:0.1443:0.1603:0.1391	1.506	0.02337	106	0.95650	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	598.33	36	chr16	70463641	.	A	G	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.892;DP=704;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=2.05;SOR=0.902	GT:AD:DP:GQ:PL	0/1:37,25:62:99:612,0,895	18	0	1	0
chr16	70955507	70955507	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon40:c.G6184A:p.A2062T	Ciliary dyskinesia, primary, 5, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0258757359081	.	.	1.84e-05	0	0	0	0	1.623e-05	0.0013	0	3.84e-05	1	26028	rs771325517	2.604e-05	2.737e-05	2.247e-05	2.962e-05	0.0002	1.921e-05	1.677e-05	6.065e-05	3.901e-05	0.0002	0	0	2.531e-05	0	0	2.679e-05	3.393e-05	0	5.266e-05	5.255e-05	5.145e-05	5.394e-05	0.0002	2.561e-05	1.833e-05	7.906e-05	5.597e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0	0.321	0.13522	T	.	.	.	.	.	.	.	.	.	0.085484	0.20639	U	0.237336	1	0.08975	N	1.86	0.49225	L	1.04	0.40218	T	-1.23	0.31170	N	0.198	0.21839	-1.0479	0.14988	T	0.079	0.31375	T	10	0.121441424	0.23021	T	0.025876	0.48826	D	0.046	0.12618	0.354	0.35408	0.187945064343	0.18414	0.5518624456536453	0.55112	.	.	0.376389056444	0.21744	T	0.058098	0.30750	T	-0.294295	0.09208	T	-0.54306	0.17997	T	0.316457629203796	0.25678	T	.	.	.	0.07778883	0.17676	0.075742185	0.16707	0.07778883	0.17675	0.075742185	0.16706	-8.146	0.62060	D	.	.	0.139	0.30397	B	.	.	2.030910	0.25809	16.90	0.93806641595767271	0.23779	0.32854	0.24687	N	AEFDBCI	0.055006	0.10050	N	-0.421008054941181	0.24734	1.337633	-0.456065891523993	0.23377	1.274516	0.999994653995635	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	3.68	0.41359	1.076000	0.30340	2.704000	0.34183	0.599000	0.40250	0.569000	0.27497	0.993000	0.31925	0.019000	0.11356	0.0:0.7487:0.0:0.2513	8.479	0.32193	572	0.70300	Hydin adenylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	633.33	33	chr16	70955507	.	C	T	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.26;DP=668;ExcessHet=0;FS=2.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.42;MQRankSum=-1.705;QD=11.95;ReadPosRankSum=1.46;SOR=0.356	GT:AD:DP:GQ:PL	0/1:25,28:53:99:647,0,540	18	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/1:117,44:161:24:24,0,1794	14	0	5	0
chr16	88721207	88721207	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.G5627A:p.R1876K	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	398	1097	24	2	1	29	0.0126013	.	.	.	726889	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	.	0.00439297	0.0083	0	0.0088	0	0	0.0008	0.0143	0.0203	0.0012742	197	154602	rs201967733	0.0014	0.0013	0.0009	0.0019	0.0170	0.0013	0.0013	0.0162	0.0159	0.0002	0.0007	0	5.635e-05	5.486e-05	0.0046	0.0004	0.0019	0.0170	0.0012	0.0012	0.0008	0.0017	0.0220	0.0011	0.0010	0.0186	0.0173	0.0001	0.0088	0.0018	0	0	0	0	0.0005	0.0024	0.0220	0.39	0.10838	T	0.334	0.18340	T	0.005	0.12996	B	0.01	0.14941	B	0.355368	0.13752	N	0.639672	1	0.08975	N	0.46	0.12951	N	-0.59	0.71543	T	-0.11	0.08653	N	0.11	0.09631	-0.9628	0.38645	T	0.171	0.51181	T	10	0.0028022528	0.00044	T	.	.	.	0.051	0.14325	.	.	0.187035705434	0.18338	0.3578497636876715	0.35698	.	.	0.433200597763	0.29646	T	0.004706	0.04113	T	-0.482128	0.00719	T	-0.451694	0.27511	T	0.00300939526850538	0.00032	T	0.518348	0.16810	T	0.02860696	0.02224	0.02676825	0.00785	0.02860696	0.02224	0.02676825	0.00785	-3.423	0.15367	T	0.07969468372394607	0.03948	0.081	0.08129	B	.	.	-0.568638	0.01659	0.117	0.69857374410872997	0.09107	0.04711	0.10402	N	AEFBCI	0.043856	0.06984	N	-1.05770769683882	0.07436	0.3454741	-1.06897098041262	0.08316	0.4083712	0.0796209566764675	0.15823	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.63	1.82	0.24209	-1.595000	0.02196	-1.640000	0.05006	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4625:0.0:0.5375	4.553	0.11522	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004415	0.005376	0.000000	0.008621	0.000000	0.000000	0.000000	0.010870	0.05263	2935.83	118	chr16	88721207	.	C	T	2935.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=1438;ExcessHet=0.119;FS=7.391;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.846;SOR=1.127	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1311,0,1287	17	0	2	0
chr16	88735041	88735041	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon14:c.C1682T:p.T561M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2850757	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.579198728388	.	.	4.922e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs759869189	2.79e-05	2.668e-05	2.682e-05	2.901e-05	0.0003	2.089e-05	1.834e-05	0.0002	0.0001	6.33e-05	2.801e-05	0	0.0003	0	0	1.668e-05	1.725e-05	7.572e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0.0002	9.407e-05	0	0	0	0	0.048	0.40068	D	0.085	0.41074	T	0.992	0.64738	D	0.549	0.49194	P	0.101302	0.19844	N	0.454910	1	0.08975	N	2.19	0.61577	M	-1.97	0.85173	D	-1.83	0.42957	N	0.25	0.28264	-0.4425	0.70647	T	0.475	0.79883	T	10	0.1665746	0.31101	T	0.579199	0.96223	D	0.267	0.58126	0.281	0.23642	0.110392049598	0.10638	0.187967569654512	0.18714	.	.	0.351370930672	0.18123	T	0.009531	0.08670	T	-0.317861	0.07074	T	-0.326769	0.41827	T	0.0458198797074958	0.04751	T	0.658834	0.26791	T	0.018362366	0.00357	0.03507703	0.02692	0.018362366	0.00357	0.03507703	0.02692	-4.268	0.27726	T	0.13171484359320654	0.13978	0.086	0.10594	B	.	.	1.771833	0.22535	15.66	0.99469926264592234	0.66259	0.10841	0.16230	N	AEFDBI	0.072981	0.14582	N	-0.398001781203803	0.25540	1.387167	-0.588020435740362	0.19804	1.064246	0.770695456810168	0.23666	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.13	2.13	0.26445	0.212000	0.17289	1.463000	0.26696	-0.169000	0.11342	0.000000	0.06391	0.053000	0.21875	0.004000	0.06068	0.2012:0.0:0.5712:0.2276	4.174	0.09803	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	.	.	.	.	.	.	.	.	0.02632	4022.33	33	chr16	88735041	.	G	A	4022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.542;DP=1394;ExcessHet=0;FS=5.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.088;SOR=0.45	GT:AD:DP:GQ:PL	0/1:112,150:262:99:4036,0,2753	18	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_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.02632	708.33	33	chr16	88807362	.	C	T	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=722;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.253;SOR=0.514	GT:AD:DP:GQ:PL	0/1:28,27:55:99:722,0,652	18	0	1	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V,FANCA:NM_001286167:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.003788	0.07895	3792.79	41	chr16	89769951	.	G	A	3792.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.596;DP=870;ExcessHet=0.3672;FS=0.463;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.597;SOR=0.756	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1260,0,899	16	0	3	0
chr16	89885854	89885854	G	A	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon4:c.G436A:p.G146R	.	.	.	.	.	.	.	.	.	.	.	3331844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.00898460406685	0.0005	0.000199681	0.0004	0.0003	8.637e-05	0	0.0017	0.0005	0	6.058e-05	0.0003493	54	154602	rs147838020	0.0005	0.0005	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0002	0.0003	0	2.538e-05	0.0012	0.0002	0.0006	0.0005	0.0001	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0004	0	0	0.0013	0	0.0010	0	0.0004	0.006	0.72154	D	0.01	0.65728	D	0.985	0.61118	D	0.458	0.46341	P	0.094250	0.20182	N	0.529047	0.999997	0.23333	N	2.39	0.68882	M	.	.	.	-3.05	0.87380	D	0.43	0.56231	-1.0804	0.07272	T	0.053	0.22384	T	9	0.026240885	0.00795	T	0.008985	0.23655	T	0.151	0.39764	0.199	0.11247	0.50685403127	0.50322	0.30422295932755267	0.30335	0.362600631993	0.37909	0.522944569588	0.42042	T	0.031091	0.34905	T	-0.270496	0.11701	T	-0.167801	0.57644	T	0.0778058757977488	0.09703	T	0.868313	0.58915	D	0.07369873	0.16488	0.10225725	0.24504	0.07369873	0.16488	0.10225725	0.24504	-5.56	0.42425	T	.	.	0.232	0.52491	B	.;.;.;.;.	.;.;.;.;.	4.056335	0.60165	24.2	0.99819541418943236	0.90238	0.81924	0.41234	D	AEFDBI	0.818791	0.73996	D	-0.021058663997257	0.40902	2.437	-0.0910350053577366	0.35758	2.072701	0.0220632908329727	0.13401	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.41	3.46	0.38718	5.709000	0.68037	9.101000	0.78775	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.777000	0.36790	0.1043:0.0:0.8957:0.0	8.443	0.31984	611	0.66908	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1058.33	33	chr16	89885854	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=735;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=2.1;SOR=0.85	GT:AD:DP:GQ:PL	0/1:73,45:118:99:1072,0,1726	18	0	1	0
chr17	2372237	2372237	C	T	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon13:c.C1490T:p.S497F,SGSM2:NM_001346700:exon13:c.C1490T:p.S497F,SGSM2:NM_014853:exon14:c.C1625T:p.S542F	.	414	1098	9	1	0	11	0.00498414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0747075749649	7.7e-05	0.000199681	0.0009	0	0.0003	0	0	0.0005	0.0011	0.0045	0.0007827	121	154602	rs201675265	0.0006	0.0006	0.0005	0.0008	0.0048	0.0006	0.0006	0.0044	0.0043	0	0.0004	0	2.52e-05	1.893e-05	0.0029	0.0004	0.0010	0.0048	0.0005	0.0005	0.0004	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	4.811e-05	0	0.0002	0.0003	0	0	0	0.0006	0.0009	0.0046	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.983	0.75793	D	0.000051	0.53742	D	0.202236	1	0.81001	D	3.105	0.87672	M	2.11	0.19860	T	-5.21	0.84387	D	0.898	0.92550	-0.6543	0.62525	T	0.191	0.54374	T	10	0.071068555	0.10426	T	0.074708	0.72109	D	0.506	0.78724	.	.	0.65995756008	0.65711	0.8498161828548804	0.84943	0.622517808553	0.56515	0.769440591335	0.77341	T	0.292619	0.66534	T	-0.191595	0.22024	T	-0.046899	0.67235	D	0.170884653925896	0.18640	T	0.983602	0.97025	D	0.77296466	0.82226	0.77023005	0.86433	0.77296466	0.82228	0.77023005	0.86434	-15.805	0.97454	D	.	.	0.965	0.88693	P	.;.;.	.;.;.	5.141162	0.86075	28.8	0.99832747249886222	0.91456	0.99709	0.98858	D	AEFDBI	0.900038	0.84512	D	0.911566182926879	0.92315	11.35336	0.86242267818422	0.93720	12.23345	0.999999999993307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.42	5.42	0.78666	7.512000	0.80617	7.627000	0.62562	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.271	0.90006	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	1569.83	42	chr17	2372237	.	C	T	1569.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=728;ExcessHet=0.119;FS=1.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.422;SOR=0.904	GT:AD:DP:GQ:PL	0/1:40,27:67:99:761,0,1098	17	0	2	0
chr17	3420578	3420578	A	G	exonic	OR3A3	.	nonsynonymous SNV	OR3A3:NM_012373:exon1:c.A11G:p.Q4R	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	7.7e-05	0.00279553	0.0010	0	0.0002	0	0	1.598e-05	0.0013	0.0113	0.0010737	166	154602	rs368262416	0.0006	0.0007	0.0003	0.0009	0.0112	0.0006	0.0006	0.0106	0.0103	0	0	0	0	0	0.0017	1.022e-05	0.0003	0.0112	0.0004	0.0004	0.0002	0.0006	0.0108	0.0003	0.0003	0.0085	0.0076	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0108	0.156	0.24090	T	0.309	0.19782	T	0.099	0.25639	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	9.9	0.00001	T	-0.26	0.11185	N	0.131	0.12627	-1.2118	0.00081	T	0.000	0.00039	T	9	0.0037602484	0.00070	T	.	.	.	0.043	0.11576	.	.	0.265010934533	0.26120	0.38448871440314975	0.38363	1.20030349719	0.80521	0.30148935318	0.10622	T	0.001844	0.01261	T	-0.603788	0.00138	T	-0.630681	0.10363	T	0.0158063046522374	0.00369	T	0.279572	0.04862	T	0.05055079	0.09151	0.061214846	0.11783	0.05055079	0.09151	0.061214846	0.11782	-3.384	0.14842	T	.	.	0.077	0.06295	B	.	.	1.984574	0.25210	16.68	0.89903102077080888	0.19203	0.01516	0.05006	N	AEFDGBI	0.031331	0.03323	N	-1.00734903232589	0.08451	0.3962681	-1.02829842674182	0.09165	0.4544844	8.67750532357144E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.55	1.39	0.21325	1.664000	0.37055	2.358000	0.32355	0.733000	0.85838	0.002000	0.15269	0.010000	0.20010	0.241000	0.23027	0.5023:0.4976:0.0:0.0	6.732	0.22577	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001098	0.000000	0.000000	0.004132	0.000000	0.000000	0.003226	0.003846	0.02632	1442.33	35	chr17	3420578	.	A	G	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.124;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-2.876;QD=11.36;ReadPosRankSum=-0.381;SOR=0.723	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1456,0,1631	18	0	1	0
chr17	4558065	4558065	C	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.G1336A:p.A446T,GGT6:NM_001122890:exon4:c.G1432A:p.A478T,GGT6:NM_001288702:exon4:c.G1450A:p.A484T	.	.	.	.	.	.	.	.	.	.	.	3254657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00652586261271	.	.	9.209e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs762142364	3.481e-06	4.788e-06	2.759e-06	4.217e-06	3.641e-06	1.02e-06	7.4e-07	8.5e-07	5.8e-07	0	0	4.198e-05	0	0	0	3.641e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.23631	T	0.198	0.27767	T	0.265	0.31634	B	0.02	0.19048	B	0.018567	0.27453	N	0.299558	0.999584	0.20930	N	0.85	0.21244	L	1.87	0.46412	T	-1.12	0.28906	N	0.13	0.19325	-1.0481	0.14932	T	0.038	0.16419	T	10	0.0863747	0.14674	T	0.006526	0.17186	T	0.027	0.05988	0.343	0.33626	0.451023696535	0.44722	0.14924313155196556	0.14846	0.072440709236	0.08123	0.303944349289	0.10992	T	0.004964	0.04384	T	-0.330548	0.06071	T	-0.62972	0.10436	T	0.0853935239741265	0.10662	T	0.630137	0.24490	T	0.036050644	0.04359	0.06053699	0.11545	0.036050644	0.04359	0.06053699	0.11545	-3.921	0.25320	T	.	.	0.099	0.16713	B	.;.;.;.	.;.;.;.	1.612051	0.20598	14.82	0.93570161618312608	0.23412	0.40349	0.26417	N	AEFDBI	0.113795	0.22439	N	-0.500610546867604	0.22060	1.175327	-0.374844737804692	0.25750	1.417962	0.999965877770911	0.48965	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.09	0.47038	0.401000	0.20673	1.096000	0.24025	-0.176000	0.10722	0.078000	0.22289	0.583000	0.25631	0.544000	0.30032	0.0:0.9036:0.0:0.0964	9.770	0.39752	735	0.53711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1301.33	34	chr17	4558065	.	C	T	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=714;ExcessHet=0;FS=0.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=0.134;SOR=0.871	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1315,0,907	18	0	1	0
chr17	7317527	7317527	T	C	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon27:c.A4246G:p.M1416V,NEURL4:NM_032442:exon27:c.A4252G:p.M1418V	.	424	1079	19	0	0	19	0.00872761	.	.	.	704339	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0059	0.00459265	0.0053	0.0015	0.0027	0.0001	0.0003	0.0049	0.0122	0.0151	0.0053428	826	154602	rs144766007	0.0069	0.0069	0.0068	0.0071	0.0137	0.0068	0.0068	0.0131	0.0128	0.0009	0.0029	3.826e-05	2.519e-05	0.0004	0.0042	0.0076	0.0059	0.0137	0.0046	0.0046	0.0047	0.0044	0.0100	0.0043	0.0042	0.0077	0.0069	0.0015	0	0.0056	0.0003	0	0.0004	0.0170	0.0070	0.0057	0.0100	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000006	0.62929	N	0.109105	0.755215	0.29597	N	0.05	0.08135	N	1.77	0.25841	T	0.49	0.02993	N	0.394	0.43514	-1.0019	0.29372	T	0.017	0.06855	T	10	0.0062610805	0.00141	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.5707462383111115	0.57002	0.538728098851	0.51120	0.502444863319	0.39168	T	0.005909	0.05354	T	-0.536757	0.00350	T	-0.531467	0.19141	T	0.00742740142554384	0.00086	T	0.819218	0.47714	T	0.131274	0.30604	0.12637737	0.30437	0.131274	0.30603	0.12637737	0.30436	-1.456	0.01827	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	3.249548	0.44396	21.9	0.82686605787481182	0.14321	0.95828	0.66327	D	AEFDGBI	0.682930	0.64578	D	-0.54608992193611	0.20606	1.087518	-0.319335026908503	0.27474	1.524787	0.999460908403817	0.39843	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.84	3.76	0.42368	4.172000	0.58036	3.489000	0.38702	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0859:0.0:0.9141	9.451	0.37889	523	0.74147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	3264.83	47	chr17	7317527	.	T	C	3264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.367;DP=917;ExcessHet=0.119;FS=4.235;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.05;SOR=0.956	GT:AD:DP:GQ:PL	0/1:49,73:122:99:1756,0,1256	17	0	2	0
chr17	7408343	7408343	G	A	exonic	NLGN2	.	nonsynonymous SNV	NLGN2:NM_020795:exon1:c.G88A:p.G30S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.592312774493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.515e-06	4.79e-06	2.992e-06	0	3.419e-05	2.5e-07	9e-08	.	.	0	0	0	3.419e-05	0	0	9.554e-07	0	0	6.587e-06	6.569e-06	0	1.349e-05	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.721	0.03914	T	0.562	0.09052	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999816	0.20249	N	0	0.06538	N	-0.13	0.64818	T	0.32	0.03955	N	0.237	0.26717	-1.0058	0.28216	T	0.076	0.30429	T	9	0.11106351	0.20783	T	0.592313	0.96383	D	0.053	0.14996	0.407	0.44066	0.662252350959	0.65942	0.31131972422787396	0.31044	1.11437822054	0.78135	0.872429609299	0.92914	D	0.019699	0.15646	T	-0.150091	0.28297	T	-0.453372	0.27325	T	0.052731052326938	0.05973	T	.	.	.	0.06915514	0.15127	0.05971561	0.11255	0.06915514	0.15127	0.05971561	0.11255	-6.497	0.50263	T	.	.	0.111	0.21950	B	.;.	.;.	2.409944	0.30976	18.60	0.96685431597445992	0.30715	0.26953	0.23140	N	AEFDBI	0.102800	0.20611	N	-1.05426248404282	0.07504	0.3488123	-0.979650333537696	0.10243	0.5146254	0.999037301556852	0.38264	0.646311	0.45356	0	0.588066	0.40923	0	0.64067	0.45733	0	0.699875	0.68795	0	.	.	3.21	1.19	0.20120	1.591000	0.36275	2.932000	0.35621	0.496000	0.22519	0.196000	0.24261	0.999000	0.35428	0.951000	0.49849	0.2475:0.0:0.5328:0.2197	2.847	0.05205	201	0.92177	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	39	chr17	7408343	.	G	A	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=695;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.542;SOR=0.969	GT:AD:DP:GQ:PL	0/1:18,25:43:99:657,0,327	18	0	1	0
chr17	8797926	8797926	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1195A:p.G399S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00561956116928	0.0027	0.00299521	0.0034	0.0021	0.0012	0.0031	0.0011	0.0031	0.0033	0.0079	0.0031694	490	154602	rs138080986	0.0035	0.0035	0.0032	0.0037	0.0106	0.0034	0.0034	0.0085	0.0081	0.0024	0.0019	0.0001	0.0081	0.0007	0.0106	0.0032	0.0033	0.0088	0.0028	0.0028	0.0028	0.0028	0.0067	0.0026	0.0025	0.0049	0.0042	0.0019	0	0.0035	0	0.0050	0.0009	0.0103	0.0031	0.0047	0.0067	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.091935	0.20300	N	0.522168	0.997606	0.22589	N	-2.035	0.00180	N	-1.05	0.76690	T	2.3	0.00290	N	0.077	0.05162	-0.9137	0.46390	T	0.058	0.24279	T	10	0.0037046075	0.00068	T	0.00562	0.14530	T	0.093	0.26882	.	.	0.0716867268079	0.06686	0.08918031029610947	0.08851	0.111762492413	0.12611	0.29768538475	0.10056	T	0.002332	0.01729	T	-0.51422	0.00475	T	-0.505727	0.21754	T	0.00011221515064836	0.00001	T	0.572743	0.20478	T	0.031209076	0.02920	0.046836205	0.06615	0.031209076	0.02919	0.046836205	0.06615	-0.666	0.00695	T	.	.	0.052	0.00207	B	.	.	0.820028	0.11909	8.475	0.83042996265959756	0.14511	0.13705	0.18006	N	AEFBCI	0.072097	0.14377	N	-1.55569078752474	0.01502	0.06556224	-1.37378368282263	0.03534	0.1650236	0.122144839200761	0.16907	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.4	0.306	0.15053	1.627000	0.36661	-0.355000	0.09716	-0.167000	0.11441	0.982000	0.35529	0.010000	0.20010	0.691000	0.33868	0.0:0.2986:0.136:0.5655	5.590	0.16579	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.02632	3224.33	46	chr17	8797926	.	C	T	3224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=1521;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.133;SOR=0.671	GT:AD:DP:GQ:PL	0/1:101,113:214:99:3238,0,2476	18	0	1	0
chr17	8797997	8797997	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1124T:p.T375I	.	428	1069	24	1	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0204920011081	0.0028	0.00179712	0.0031	0.0021	0.0012	0.0001	0.0011	0.0031	0.0033	0.0076	0.0029236	452	154602	rs111767864	0.0032	0.0032	0.0029	0.0034	0.0106	0.0031	0.0031	0.0085	0.0079	0.0024	0.0019	0.0001	2.519e-05	0.0007	0.0106	0.0031	0.0032	0.0086	0.0026	0.0026	0.0027	0.0025	0.0062	0.0024	0.0023	0.0045	0.0039	0.0020	0	0.0035	0	0.0002	0.0009	0.0103	0.0030	0.0047	0.0062	0.078	0.33923	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.005984	0.32354	N	0.239860	1	0.08975	N	-0.345	0.03330	N	-2.02	0.85542	D	0.66	0.02297	N	0.1	0.08227	-0.8602	0.51249	T	0.250	0.61912	T	10	0.008372992	0.00190	T	0.020492	0.43095	T	0.180	0.45073	.	.	0.12205267543	0.11705	0.19717208777668382	0.19634	0.121136093856	0.13646	0.263680249453	0.05336	T	0.002572	0.01964	T	-0.408257	0.02042	T	-0.3538	0.38770	T	0.00563107565943834	0.00061	T	0.309269	0.05988	T	0.037358418	0.04774	0.04124991	0.04644	0.037358418	0.04773	0.04124991	0.04643	-2.543	0.06082	T	.	.	0.083	0.09336	B	.	.	0.772079	0.11419	8.030	0.92407789139020891	0.21822	0.02169	0.06362	N	AEFDBCI	0.040116	0.05921	N	-1.12414462355394	0.06216	0.2855444	-1.035878896473	0.09003	0.4455951	0.980862851411514	0.30187	0.615465	0.37627	0	0.552637	0.17590	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.12	4.05	0.46415	2.458000	0.44671	3.742000	0.39654	-0.040000	0.17491	0.094000	0.22667	0.992000	0.31684	0.001000	0.02609	0.8417:0.0:0.1583:0.0	8.665	0.33280	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.02632	2905.33	46	chr17	8797997	.	G	A	2905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=1535;ExcessHet=0;FS=3.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.893;SOR=0.497	GT:AD:DP:GQ:PL	0/1:116,111:227:99:2919,0,2828	18	0	1	0
chr17	8798496	8798496	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G625A:p.A209T	.	429	1068	24	1	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00876814844764	0.0025	0.00119808	0.0026	0.0021	0.0012	0	0.0011	0.0025	0.0023	0.0067	0.002348	363	154602	rs144238966	0.0024	0.0024	0.0022	0.0026	0.0096	0.0024	0.0023	0.0076	0.0068	0.0020	0.0019	0.0001	0	0.0006	0.0096	0.0023	0.0025	0.0071	0.0021	0.0021	0.0022	0.0020	0.0043	0.0019	0.0018	0.0029	0.0025	0.0019	0	0.0035	0	0	0.0009	0.0136	0.0021	0.0043	0.0043	0.595	0.05720	T	0.624	0.07342	T	0.094	0.25382	B	0.062	0.26930	B	0.469240	0.04916	N	1.320320	1	0.08975	N	0.75	0.19020	N	0.79	0.49068	T	-0.5	0.15782	N	0.028	0.00618	-1.0516	0.13954	T	0.071	0.29066	T	10	0.0038802028	0.00073	T	0.008768	0.23147	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.30546399118235157	0.30459	0.118892422166	0.13393	0.219524219632	0.01283	T	5.27E-4	0.00201	T	-0.676591	0.00050	T	-0.741485	0.03829	T	0.00150702798559193	0.00015	T	0.374863	0.08927	T	0.048184883	0.08357	0.051021103	0.08128	0.048184883	0.08356	0.051021103	0.08128	-2.745	0.07689	T	.	.	0.071	0.03849	B	.	.	-0.381365	0.02283	0.238	0.66048443197865359	0.07946	0.07869	0.13860	N	AEFDBCI	0.091390	0.18511	N	-1.10575227081603	0.06540	0.3013409	-1.17609213568694	0.06311	0.3033808	0.997959651820398	0.36237	0.652421	0.48094	0	0.552637	0.17590	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.86	-2.6	0.05830	-1.340000	0.02756	-1.097000	0.06340	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1283:0.3697:0.252:0.25	1.641	0.02586	808	0.43318	Major facilitator superfamily associated 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	0.008056	0.000000	0.008152	0.011696	0.050000	0.017241	0.012195	0.003788	0.02632	2604.33	46	chr17	8798496	.	C	T	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.666;DP=922;ExcessHet=0;FS=0.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.527;SOR=0.633	GT:AD:DP:GQ:PL	0/1:98,99:197:99:2618,0,2740	18	0	1	0
chr17	9791164	9791164	C	T	exonic	DHRS7C	.	nonsynonymous SNV	DHRS7C:NM_001105571:exon1:c.G121A:p.V41M,DHRS7C:NM_001220493:exon1:c.G121A:p.V41M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0440347173007	.	0.000199681	0.0002	0	0	0	0	1.603e-05	0	0.0014	0.0001423	22	154602	rs532103187	8.554e-05	8.551e-05	4.493e-05	0.0001	0.0014	7.315e-05	6.818e-05	0.0012	0.0011	0	0	0	2.519e-05	0	0	1.799e-06	8.283e-05	0.0014	4.595e-05	4.593e-05	1.285e-05	8.055e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.087	0.32453	T	0.153	0.32249	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.035	0.55589	M	-2.43	0.88689	D	-1.5	0.36586	N	0.795	0.79118	0.574	0.91550	D	0.784	0.92673	D	10	0.23598409	0.40671	T	0.044035	0.61287	D	0.634	0.85975	0.494	0.58206	0.827483548525	0.82585	0.8157389455843908	0.81529	0.777774367674	0.65122	0.731531977654	0.71729	T	0.226973	0.59214	T	0.0224366	0.54710	T	0.224074	0.84378	D	0.134481263078861	0.15790	T	0.970603	0.89432	D	0.38933438	0.59985	0.34190708	0.59924	0.38933438	0.59985	0.34190708	0.59923	-6.118	0.47256	T	.	.	0.373	0.57999	A	.;.	.;.	4.384018	0.67603	25.1	0.99901025109908115	0.97275	0.94945	0.62878	D	AEFBI	0.790131	0.71911	D	0.784659733985512	0.85137	8.487272	0.80006294093229	0.89797	10.12554	0.99999222370619	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	6.540000	0.73764	7.657000	0.64017	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.230	0.93820	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1515.33	33	chr17	9791164	.	C	T	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.097;DP=751;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.249;SOR=0.83	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1529,0,1365	18	0	1	0
chr17	11690384	11690384	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.A4562G:p.H1521R	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.0542128596508	.	.	2.479e-05	0	8.652e-05	0	0	1.503e-05	0	6.063e-05	1.94e-05	3	154602	rs772342168	1.437e-05	1.437e-05	2.042e-05	8.25e-06	0.0005	9.23e-06	7.84e-06	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	8.093e-06	3.311e-05	2.319e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	.	.	.	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.01	0.86067	M	0.12	0.61089	T	-7.2	0.94223	D	0.92	0.92433	0.045	0.83151	D	0.453	0.78609	T	10	0.91210896	0.90575	D	0.054213	0.65770	D	0.717	0.89966	0.677	0.81496	0.843893626949	0.84240	0.40171684312916134	0.40087	0.17001482027	0.19168	0.628695607185	0.56959	T	0.372695	0.73682	T	0.180458	0.72084	D	0.218411	0.84094	D	0.838271975517273	0.49187	D	0.977502	0.92063	D	0.80170596	0.84015	0.7970189	0.88083	0.80170596	0.84016	0.7970189	0.88084	-12.176	0.85698	D	.	.	0.119	0.24363	B	.;.	.;.	4.117353	0.61514	24.3	0.99770913638351888	0.85918	0.98887	0.88185	D	AEFBI	0.925958	0.90633	D	0.825557409746072	0.87677	9.301228	0.747493259656035	0.85971	8.741981	0.999302383141327	0.39077	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	8.836000	0.91725	9.360000	0.80368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	15.742	0.77670	883	0.28872	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	33	chr17	11690384	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.867;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.831;SOR=0.768	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1485,0,1317	18	0	1	0
chr17	17167542	17167542	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.G5951A:p.R1984K	.	413	1101	7	1	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0163738	0.0039	0.0011	0.0243	0.0597	0	0.0006	0.0195	0.0018	0.0022121	342	154602	rs3744128	0.0022	0.0017	0.0022	0.0021	0.0667	0.0021	0.0021	0.0630	0.0615	0.0004	0.0446	0	0.0667	0	0	7.601e-05	0.0033	0.0021	0.0071	0.0071	0.0055	0.0088	0.0584	0.0068	0.0066	0.0530	0.0508	0.0005	0	0.0470	0	0.0584	0	0	0.0002	0.0057	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	34	chr17	17167542	.	G	A	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=799;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.245;SOR=0.593	GT:AD:DP:GQ:PL	0/1:70,43:113:99:1206,0,1964	18	0	1	0
chr17	18004400	18004400	A	G	exonic	DRC3	.	nonsynonymous SNV	DRC3:NM_001130092:exon10:c.A1037G:p.N346S,DRC3:NM_031294:exon10:c.A1037G:p.N346S,DRC3:NM_001130090:exon11:c.A1037G:p.N346S,DRC3:NM_001130091:exon11:c.A1037G:p.N346S	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0033221497119	0.0002	0.000798722	0.0010	0	0	0.0036	0.0007	0.0011	0.0018	0.0002	0.0004916	76	154602	rs141917632	0.0003	0.0003	0.0002	0.0003	0.0034	0.0002	0.0002	0.0029	0.0028	2.991e-05	0	0.0035	0.0034	0.0003	0.0002	8.026e-05	0.0005	5.901e-05	0.0003	0.0003	0.0002	0.0004	0.0042	0.0002	0.0002	0.0029	0.0024	2.404e-05	0	6.534e-05	0.0037	0.0042	0.0005	0	5.88e-05	0.0005	0.0002	0.756	0.03674	T	0.728	0.05363	T	0.0	0.02946	B	0.0	0.06944	B	0.004810	0.01045	N	2.318620	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.57	0.17210	N	0.039	0.01740	-1.0270	0.21429	T	0.026	0.11353	T	10	0.0047944486	0.00101	T	0.003322	0.07390	T	0.010	0.01040	.	.	0.128392430309	0.12331	0.2573174939262164	0.25645	0.135519138639	0.15275	0.324067384005	0.14037	T	0.00135	0.00824	T	-0.725674	0.00025	T	-0.821014	0.01432	T	0.0183698815962406	0.00555	T	0.521048	0.18126	T	0.018704776	0.00393	0.01884972	0.00068	0.018704776	0.00393	0.01884972	0.00068	-3.771	0.20372	T	.	.	0.061	0.03266	B	.;.;.;.	.;.;.;.	-2.596530	0.00025	0.001	0.44638926965647296	0.03446	0.01274	0.04455	N	AEFDGI	0.033834	0.04085	N	-1.80535675776474	0.00532	0.02291128	-1.88420815114268	0.00526	0.02331456	0.999548544064245	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.408882	0.06424	0	0.567892	0.33627	0	.	.	4.7	-8.57	0.00783	-2.280000	0.01239	-5.805000	0.01590	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.1712:0.2926:0.3545:0.1817	2.084	0.03420	360	0.84920	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	1110.33	34	chr17	18004400	.	A	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.266;SOR=0.708	GT:AD:DP:GQ:PL	0/1:75,47:122:99:1124,0,1969	18	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S,TRIM16L:NM_001353225:exon2:c.G100A:p.G34S,TRIM16L:NM_001353224:exon3:c.G100A:p.G34S,TRIM16L:NM_001353221:exon5:c.G406A:p.G136S,TRIM16L:NM_001353219:exon6:c.G262A:p.G88S,TRIM16L:NM_001353222:exon7:c.G100A:p.G34S,TRIM16L:NM_001353220:exon8:c.G100A:p.G34S,TRIM16L:NM_001353223:exon8:c.G100A:p.G34S	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010776	0.000000	0.013624	0.012500	0.000000	0.017241	0.012821	0.000000	0.07895	8272.79	35	chr17	18727657	.	G	A	8272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.9;DP=1254;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.66;MQRankSum=-1.753;QD=12.53;ReadPosRankSum=0.432;SOR=0.703	GT:AD:DP:GQ:PL	0/1:137,123:260:99:3230,0,3391	16	0	3	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M,FBXW10:NM_001267586:exon9:c.G1672A:p.V558M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004284	0.000000	0.005495	0.004464	0.000000	0.008929	0.003968	0.000000	0.02632	1726.33	38	chr17	18766830	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=733;ExcessHet=0;FS=3.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.88;MQRankSum=3.22;QD=16.29;ReadPosRankSum=-1.141;SOR=0.384	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1740,0,1376	18	0	1	0
chr17	28524876	28524876	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C497T:p.A166V,FOXN1:NM_001369369:exon3:c.C497T:p.A166V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	343882	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.200	0.0611247255047	7.7e-05	0.000399361	0.0004	0.0002	0	0	0	9.22e-05	0.0023	0.0022	0.0003105	48	154602	rs367793349	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	8.961e-05	6.708e-05	0	0	0	0.0017	4.497e-05	0.0003	0.0022	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	0.0001	0	0.0001	0	0.0002	0	0	0.0001	0.0019	0.0027	0.005	0.63226	D	0.277	0.21880	T	0.001	0.07471	B	0.001	0.04355	B	0.001153	0.40056	N	0.218534	1	0.08975	N	0	0.06538	N	-3.07	0.92508	D	-0.64	0.18670	N	0.097	0.08088	-0.5514	0.66734	T	0.434	0.77459	T	10	0.009364754	0.00211	T	0.061125	0.68229	D	0.200	0.48430	.	.	0.291402777868	0.28757	0.24804110477518057	0.24718	0.160597835349	0.18125	0.37772333622	0.21933	T	0.191281	0.54608	T	-0.395816	0.02466	T	-0.347814	0.39455	T	0.0912167220636261	0.11361	T	0.712229	0.32360	T	0.063355856	0.13332	0.09509642	0.22539	0.063355856	0.13331	0.09509642	0.22539	-4.856	0.35237	T	0.11467441300503492	0.10174	0.095	0.14888	B	.;.	.;.	3.153680	0.42703	21.6	0.99258675137764762	0.57121	0.24643	0.22457	N	AEFDGBI	0.035853	0.04683	N	-0.803832996934533	0.13212	0.6492877	-0.68333292965869	0.17377	0.9237241	0.999988332994896	0.51787	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.58	1.24	0.20416	2.035000	0.40776	6.525000	0.55842	-0.184000	0.09925	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.1552:0.286:0.4218:0.137	2.638	0.04663	152	0.94023	.;.	.	.	.	.	.	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	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2218.33	35	chr17	28524876	.	C	T	2218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=835;ExcessHet=0;FS=3.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.975;SOR=1.049	GT:AD:DP:GQ:PL	0/1:72,76:148:99:2232,0,1926	18	0	1	0
chr17	28616738	28616738	G	C	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon34:c.C5608G:p.L1870V,KIAA0100:NM_001363827:exon34:c.C5032G:p.L1678V,KIAA0100:NM_001363828:exon34:c.C4012G:p.L1338V,KIAA0100:NM_001321560:exon35:c.C6034G:p.L2012V,KIAA0100:NM_014680:exon35:c.C6037G:p.L2013V,KIAA0100:NM_001363829:exon36:c.C4009G:p.L1337V	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0207733650466	0.0004	.	0.0004	9.643e-05	0	0	0	0.0004	0	0.0013	0.0003299	51	154602	rs201896448	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0010	0	4.472e-05	0.0016	0	0	0.0007	8.903e-05	0.0005	0.0012	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.981e-05	2.413e-05	0	0	0.0040	0	0	0	0.0001	0.0005	0.0006	0.006	0.61437	D	0.217	0.26631	T	0.962	0.55554	D	0.611	0.51118	P	0.000000	0.84330	D	0.051565	0.999979	0.54805	D	1.93	0.51437	L	0.35	0.58029	T	-1.23	0.31170	N	0.737	0.75101	-0.6698	0.61838	T	0.238	0.60607	T	10	0.13393661	0.25490	T	0.020773	0.43429	T	0.232	0.53354	.	.	0.676123130162	0.67337	0.6295433775604794	0.62888	1.35631030607	0.84190	0.814725995064	0.84217	D	0.005212	0.21536	T	-0.169837	0.25259	T	-0.0521139	0.66878	D	0.0712289101413549	0.08822	T	0.913209	0.69728	D	0.2861887	0.51636	0.26821655	0.52688	0.2861887	0.51636	0.26821655	0.52687	-8.77	0.66204	D	.	.	0.203	0.42834	B	.;.;.	.;.;.	4.622661	0.73422	26.0	0.99375041828727151	0.61628	0.98950	0.89059	D	AEFBI	0.922633	0.89790	D	0.693583682886797	0.79212	7.030216	0.73883279930442	0.85318	8.545527	0.999999942764117	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.589000	0.81916	11.912000	0.99606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.195	0.98241	224	0.91330	FMP27,  C-terminal;FMP27,  C-terminal;FMP27,  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	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	2230.33	39	chr17	28616738	.	G	C	2230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=813;ExcessHet=0;FS=2.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.348;SOR=0.946	GT:AD:DP:GQ:PL	0/1:70,75:145:99:2244,0,1870	18	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G,MYO1D:NM_001303280:exon5:c.A598G:p.S200G,MYO1D:NM_015194:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.41	33	chr17	32772809	.	T	C	92.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.605;DP=861;ExcessHet=0;FS=58.968;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.634;SOR=5.782	GT:AD:DP:GQ:PL	0/1:54,17:71:99:106,0,1190	18	0	1	0
chr17	34320872	34320872	C	A	exonic	CCL8	.	nonsynonymous SNV	CCL8:NM_005623:exon3:c.C265A:p.H89N	.	392	1093	35	2	0	39	0.0175281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00239617	0.0048	0.0016	0.0034	0.0001	0.0040	0.0059	0.0100	0.0056	0.0044825	693	154602	rs117180331	0.0046	0.0046	0.0044	0.0047	0.0278	0.0045	0.0044	0.0243	0.0229	0.0017	0.0026	0.0074	7.624e-05	0.0027	0.0278	0.0047	0.0047	0.0054	0.0035	0.0035	0.0035	0.0035	0.0051	0.0032	0.0031	0.0047	0.0045	0.0013	0	0.0023	0.0066	0	0.0026	0.0240	0.0051	0.0057	0.0044	.	.	.	0.412	0.14456	T	0.022	0.18677	B	0.021	0.19346	B	0.230781	0.03517	N	1.696870	1	0.08975	N	.	.	.	3.58	0.04594	T	.	.	.	0.124	0.11626	-1.0348	0.18920	T	0.059	0.24686	T	8	0.0110735595	0.00244	T	.	.	.	0.035	0.08770	.	.	0.502191834036	0.49857	0.28196058107485844	0.28109	0.131999103059	0.14881	0.282067149878	0.07783	T	0.086521	0.37743	T	-0.711106	0.00031	T	-0.791896	0.02113	T	0.00467057206448012	0.00050	T	0.0819918	0.00602	T	0.30349264	0.53216	0.3064231	0.56667	0.30349264	0.53216	0.3064231	0.56666	-5.032	0.37186	T	.	.	0.144	0.31808	B	.	.	-0.345839	0.02423	0.273	0.85336713599012115	0.15830	0.05288	0.11132	N	AEFDI	0.079684	0.16100	N	-0.703663549196475	0.15918	0.8065266	-0.695714887143265	0.17067	0.9058338	7.93249978049868E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	3.31	0.37025	-0.741000	0.04961	-3.535000	0.02714	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.539000	0.29915	0.1745:0.7354:0.0:0.0901	6.761	0.22729	878	0.29785	Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.021739	0.052632	0.100000	0.017241	0.006098	0.018939	0.05263	1696.83	34	chr17	34320872	.	C	A	1696.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.667;DP=813;ExcessHet=0.119;FS=1.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.062;SOR=0.593	GT:AD:DP:GQ:PL	0/1:37,39:76:99:891,0,901	17	0	2	0
chr17	35440954	35440954	T	C	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon6:c.A2335G:p.I779V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0113268709725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.324	0.18903	T	0.062	0.36338	B	0.024	0.38015	B	0.984036	0.08075	N	0.990994	1	0.08975	N	2.18	0.61292	M	-1.51	0.81399	D	-0.42	0.14193	N	0.079	0.07125	-0.6663	0.61995	T	0.407	0.75649	T	10	0.08332169	0.13847	T	0.011327	0.28845	T	0.181	0.45247	0.427	0.47350	0.152612264143	0.14878	0.05224870939930665	0.05166	0.0499660560402	0.05486	0.327174127102	0.14507	T	0.001717	0.01139	T	-0.136935	0.30378	T	-0.434474	0.29428	T	0.120083633573969	0.14438	T	0.362864	0.08399	T	0.04477355	0.07216	0.041635297	0.04775	0.04477355	0.07216	0.041635297	0.04775	-3.412	0.18002	T	.	.	0.101	0.20819	B	.;.;.;.;.	.;.;.;.;.	-0.095854	0.03667	0.737	0.3437905130953095	0.02100	0.04724	0.10419	N	AEFBI	0.088890	0.18020	N	-0.852996777156631	0.11976	0.5810463	-1.02390918493122	0.09260	0.4597024	1.1276770909484E-4	0.05269	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	3.26	-1.21	0.09033	0.342000	0.19669	-2.668000	0.03487	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.196:0.0:0.3867:0.4173	4.157	0.09733	406	0.82375	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3389.33	33	chr17	35440954	.	T	C	3389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.443;DP=861;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.651;SOR=0.602	GT:AD:DP:GQ:PL	0/1:112,123:235:99:3403,0,3166	18	0	1	0
chr17	35937770	35937770	C	T	exonic	LYZL6	.	nonsynonymous SNV	LYZL6:NM_001199951:exon3:c.G286A:p.V96I,LYZL6:NM_020426:exon3:c.G286A:p.V96I	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00243626193293	0.0002	0.000599042	0.0009	0	0.0003	0.0020	0.0003	0.0006	0.0011	0.0024	0.0007762	120	154602	rs114022698	0.0005	0.0005	0.0004	0.0006	0.0022	0.0005	0.0005	0.0020	0.0019	0	0.0004	7.655e-05	0.0010	0.0008	0.0014	0.0004	0.0007	0.0022	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0022	0.0018	0	0	0.0004	0	0.0017	0.0004	0	0.0008	0.0009	0.0035	.	.	.	1.0	0.01155	T	0.251	0.31212	B	0.094	0.30180	B	0.172424	0.17335	N	0.514876	1	0.08975	N	0.46	0.12951	N	.	.	.	.	.	.	0.074	0.04790	-0.9849	0.33856	T	0.080	0.31735	T	10	0.0055996478	0.00124	T	0.002436	0.04785	T	.	.	.	.	0.104622674875	0.10061	0.41058968588628436	0.40974	.	.	0.38222399354	0.22572	T	0.001494	0.00943	T	-0.660014	0.00063	T	-0.726079	0.04507	T	0.01069367596037	0.00150	T	0.520648	0.16939	T	0.024376975	0.01263	0.04680669	0.06605	0.024376975	0.01263	0.04680669	0.06604	-3.77	0.20357	T	.	.	0.086	0.10883	B	.;.	.;.	-0.118734	0.03530	0.673	0.23395964315172221	0.00987	0.00612	0.02715	N	AEFI	0.033182	0.03888	N	-1.31943557166513	0.03453	0.1542687	-1.34180247458768	0.03903	0.1830363	1.8869553561155E-6	0.01202	0.497415	0.19182	0	0.573078	0.20572	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-0.996	0.09696	-1.044000	0.03642	-10.973000	0.00647	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.4826:0.1448:0.3726	5.249	0.14831	305	0.87738	Glycoside hydrolase, family 22, conserved site;Glycoside hydrolase, family 22, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	689.33	35	chr17	35937770	.	C	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.33;DP=679;ExcessHet=0;FS=6.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.094;SOR=0.199	GT:AD:DP:GQ:PL	0/1:21,27:48:99:703,0,596	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:40,51:91:99:611,0,475	1	0	18	0
chr17	37642146	37642146	-	CCT	exonic	DDX52	.	nonframeshift insertion	DDX52:NM_007010:exon2:c.249_250insAGG:p.R83_E84insR	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.000798722	0.0005	9.614e-05	0.0006	0	0	0.0006	0	0.0010	0.0001153	3	26028	rs373034938	0.0004	0.0004	0.0003	0.0004	0.0043	0.0003	0.0003	0.0030	0.0026	0.0004	0.0007	0.0005	0	0	0.0043	0.0003	0.0006	0.0011	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	4.815e-05	0	0.0007	0	0	0	0.0034	0.0005	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.006793	0.005848	0.000000	0.000000	0.009146	0.000000	0.02632	2604.29	35	chr17	37642146	.	C	CCCT	2604.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.971;DP=750;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=1.05;SOR=0.582	GT:AD:DP:GQ:PL	0/1:63,68:131:99:2618,0,2411	18	0	1	0
chr17	38330115	38330115	A	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.T3454C:p.S1152P	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1505	15	2	0	19	0.0062727	.	.	.	374952	Congenital_stationary_night_blindness_1E|not_specified|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0071	0.00339457	0.0067	0.0019	0.0070	0	0.0033	0.0092	0.0080	0.0032	0.0068175	1054	154602	rs149252987	0.0093	0.0092	0.0095	0.0090	0.0108	0.0091	0.0091	0.0107	0.0106	0.0016	0.0062	0.0047	0	0.0050	0.0044	0.0108	0.0080	0.0032	0.0068	0.0067	0.0075	0.0060	0.0102	0.0064	0.0063	0.0096	0.0093	0.0022	0.0637	0.0062	0.0049	0	0.0040	0.0068	0.0102	0.0071	0.0025	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	0.001369	0.39242	N	0.117170	0.974477	0.25489	N	.	.	.	.	.	.	.	.	.	0.525	0.55453	-0.9590	0.39368	T	0.119	0.41626	T	10	0.005481094	0.00121	T	.	.	.	.	.	.	.	0.370608029945	0.36667	0.20258049630973457	0.20175	.	.	0.417994588614	0.27562	T	.	.	.	-0.324274	0.06553	T	-0.22625	0.52134	T	0.0142897565111187	0.00284	T	0.630437	0.24556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.47338	B	.;.	.;.	3.573630	0.50344	22.9	0.99849158347106404	0.92838	0.28655	0.23613	N	AEFGBI	.	.	.	-0.0313918016067256	0.40438	2.40142	-0.0820273658342813	0.36133	2.098979	0.996471172121511	0.34770	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	4.18	0.48473	1.304000	0.33087	3.826000	0.39973	0.756000	0.94297	0.835000	0.30208	0.998000	0.33993	0.792000	0.37394	0.8425:0.0:0.0:0.1575	9.491	0.38121	125	0.94984	.;.	.	.	.	.	rs149252987	Likely benign	0	0	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	0.006042	0.005051	0.010870	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	4843.33	42	chr17	38330115	.	A	G	4843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=1533;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.4;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,177:404:99:0|1:38330115_A_G:4857,0,8785:38330115	18	0	1	0
chr17	38469255	38469255	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon8:c.C1760T:p.P587L	.	409	1109	4	0	0	4	0.00180018	.	.	.	2387898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0124135495255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs537171313	0.0002	0.0001	0.0002	0.0001	0.0011	0.0001	0.0001	0.0008	0.0007	6.331e-05	0.0011	0	5.596e-05	0	0.0004	0.0001	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	9.143e-05	7.699e-05	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0002	.	.	.	0.308	0.19845	T	0.791	0.73220	P	0.246	0.61580	B	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	1.63	0.41750	L	.	.	.	.	.	.	0.541	0.56833	-1.1030	0.03747	T	0.062	0.25887	T	10	0.11480051	0.21611	T	0.012414	0.30958	T	.	.	0.255	0.19533	0.512192450023	0.50859	0.5903273410696618	0.58962	.	.	0.804570734501	0.82660	D	0.108714	0.42198	T	-0.284422	0.10204	T	-0.226881	0.52074	T	0.0909747271203113	0.11333	T	.	.	.	0.37883073	0.59232	0.29966024	0.56000	0.37883073	0.59232	0.29966024	0.55999	-12.76	0.89818	D	.	.	0.689	0.72511	P	.;.	.;.	4.368116	0.67223	25.1	0.95664433092004464	0.27499	0.99366	0.95088	D	AEFBI	0.807952	0.73185	D	0.222930558286575	0.52311	3.406162	0.246690516965255	0.52461	3.420802	0.99999999995796	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.78	3.78	0.42629	5.743000	0.68292	7.651000	0.63703	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	14.544	0.67603	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2339.33	37	chr17	38469255	.	C	T	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=818;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.469;SOR=0.623	GT:AD:DP:GQ:PL	0/1:92,95:187:99:2353,0,2020	18	0	1	0
chr17	39214269	39214269	T	C	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_001351360:exon8:c.A479G:p.K160R,STAC2:NM_198993:exon8:c.A905G:p.K302R	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00961022670831	0.0038	0.000998403	0.0027	0.0007	0.0018	0	0.0003	0.0044	0.0011	0.0004	0.0030853	477	154602	rs79968874	0.0052	0.0052	0.0054	0.0049	0.0063	0.0051	0.0050	0.0061	0.0061	0.0008	0.0020	0.0028	0	0.0005	0.0024	0.0063	0.0052	0.0005	0.0031	0.0031	0.0034	0.0028	0.0050	0.0029	0.0028	0.0046	0.0044	0.0016	0	0.0020	0.0029	0	0.0005	0.0034	0.0050	0.0052	0.0004	0.437	0.09346	T	0.221	0.25827	T	0.999	0.77913	D	0.996	0.84481	D	0.000002	0.62929	D	0.056171	0.996922	0.43508	D	0.035	0.08059	N	1.0	0.41392	T	-1.38	0.34198	N	0.305	0.34444	-1.0267	0.21527	T	0.086	0.33466	T	10	0.020850867	0.00488	T	0.00961	0.25130	T	0.195	0.47612	.	.	0.563873649602	0.56049	0.42853757149955524	0.42770	0.516753251321	0.49562	0.62697994709	0.56717	T	0.059677	0.31181	T	-0.347689	0.04874	T	-0.2689	0.47930	T	0.0175535971238021	0.00489	T	0.851715	0.53598	D	0.38021097	0.59332	0.24482717	0.49958	0.44682375	0.63841	0.2702353	0.52911	-6.596	0.51022	T	0.2631071747427153	0.35499	0.086	0.10787	B	.	.	4.927665	0.81218	27.5	0.998393990317611	0.91972	0.31796	0.24427	N	AEFDGBCIJ	0.522992	0.54678	D	0.272290393196863	0.54750	3.639754	0.327424170507449	0.57156	3.880547	0.999999880732311	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	3.666000	0.54277	4.211000	0.42532	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.720	0.62200	592	0.68746	SH3 domain|SH3 domain|SH3 domain|SH3 domain|Stac2, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3371.83	35	chr17	39214269	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.786;DP=886;ExcessHet=0.119;FS=1.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.062;SOR=0.574	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1366,0,1240	17	0	2	0
chr17	41167871	41167871	C	T	exonic	KRTAP4-3	.	nonsynonymous SNV	KRTAP4-3:NM_033187:exon1:c.G302A:p.R101H	.	448	1012	56	6	0	68	0.0325048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0071	0.00698882	0.0079	0.0018	0.0033	0.0004	0.0024	0.0084	0.0076	0.0179	0.0064423	996	154602	rs143200002	0.0038	0.0037	0.0033	0.0042	0.0251	0.0037	0.0036	0.0215	0.0201	0.0012	0.0020	0.0021	7.623e-05	0.0021	0.0251	0.0033	0.0047	0.0129	0.0065	0.0065	0.0066	0.0063	0.0189	0.0061	0.0060	0.0157	0.0146	0.0018	0.0022	0.0053	0.0029	0.0004	0.0016	0.0310	0.0098	0.0114	0.0189	0.061	0.37118	T	0.039	0.51112	D	0.518	0.37483	P	0.076	0.28435	B	0.011693	0.29437	U	0.000000	1	0.08975	N	3.58	0.93551	H	4.87	0.01449	T	-3.2	0.64710	D	0.06	0.03175	-0.9705	0.37094	T	0.006	0.01907	T	10	0.0060154498	0.00135	T	.	.	.	0.108	0.30607	.	.	0.27479166964	0.27093	0.05665735460135568	0.05606	0.0258765225282	0.02640	0.1833358109	0.00128	T	0.034654	0.23405	T	-0.48063	0.00733	T	-0.458182	0.26797	T	0.0535494363800892	0.06113	T	0.114489	0.00870	T	0.08230956	0.18956	0.1222704	0.29494	0.08230956	0.18956	0.1222704	0.29493	-8.921	0.67187	D	.	.	0.218	0.44758	B	.	.	1.382789	0.17947	13.46	0.92627092135174738	0.22097	0.03687	0.08959	N	AEFDBI	0.038029	0.05321	N	-0.509054315330663	0.21786	1.158767	-0.647242879890709	0.18287	0.9762053	1.44131263787327E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.55	1.33	0.20958	-2.123000	0.01406	.	.	0.575000	0.29119	0.000000	0.06391	.	.	0.913000	0.44837	0.1513:0.674:0.0:0.1747	5.927	0.18355	266	0.89551	.	.	.	KRT31	Brain_Cerebellar_Hemisphere	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.042843	0.045455	0.027174	0.064706	0.000000	0.068966	0.051829	0.049242	0.02632	1622.33	33	chr17	41167871	.	C	T	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.268;DP=754;ExcessHet=0;FS=2.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.37;MQRankSum=-1.025;QD=12.67;ReadPosRankSum=-0.868;SOR=0.543	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1636,0,1613	18	0	1	0
chr17	41379053	41379053	G	A	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1126T:p.R376W	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0847181783815	0.0052	0.00459265	0.0056	0.0009	0.0039	0.0055	0.0015	0.0075	0.0088	0.0038	0.0055303	855	154602	rs61740668	0.0069	0.0069	0.0070	0.0069	0.0127	0.0068	0.0068	0.0118	0.0114	0.0011	0.0052	0.0240	0.0127	0.0026	0.0052	0.0070	0.0071	0.0035	0.0057	0.0057	0.0056	0.0057	0.0095	0.0054	0.0052	0.0083	0.0078	0.0012	0.0406	0.0095	0.0256	0.0066	0.0026	0.0068	0.0066	0.0066	0.0037	.	.	.	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.000000	0.879976	0.35731	D	3.67	0.94359	H	-2.67	0.90332	D	.	.	.	0.543	0.57006	0.203	0.85955	D	0.426	0.76923	T	9	0.013114721	0.00279	T	0.084718	0.74385	D	0.222	0.51872	.	.	0.731110952816	0.72872	0.3701867927902465	0.36932	0.293471440476	0.31769	0.492708265781	0.37814	T	0.620672	0.88105	D	-0.196695	0.21282	T	-0.0474956	0.67193	D	0.101185565475117	0.12487	T	0.863714	0.56064	D	0.8836848	0.89973	0.8493041	0.91458	0.8836848	0.89974	0.8493041	0.91458	-9.505	0.70890	D	.	.	0.285	0.51712	B	.	.	4.962455	0.82058	27.7	0.99918646325503013	0.98586	0.87165	0.46623	D	AEFDGBI	0.779206	0.71148	D	0.685785271911259	0.78702	6.924894	0.561706923453328	0.72217	5.774892	0.938938204476246	0.27365	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	4.02	0.45968	0.485000	0.22033	2.819000	0.34952	0.671000	0.69459	0.056000	0.21631	1.000000	0.68203	0.991000	0.66497	0.0:0.1442:0.7244:0.1314	11.153	0.47694	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.003704	0.000000	0.006793	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	3643.33	37	chr17	41379053	.	G	A	3643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=924;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=-0.922;QD=13.96;ReadPosRankSum=-0.499;SOR=0.764	GT:AD:DP:GQ:PL	0/1:121,140:261:99:3657,0,3015	18	0	1	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	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	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.05263	7083.81	40	chr17	50548440	.	A	G	7083.81	.	AC=2;AF=0.053;AN=38;DP=1121;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.14;SOR=0.772	GT:AD:DP:GQ:PL	1/1:0,235:235:99:7111,704,0	18	1	0	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008294	0.000000	0.008264	0.000000	0.000000	0.008772	0.011538	0.008264	0.05263	3385.81	33	chr17	60183298	.	A	C	3385.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.23;SOR=1.262	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3413,336,0	18	1	0	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:46,20:66:35:35,0,617	8	0	11	0
chr17	67692697	67692697	A	G	exonic	PITPNC1	.	nonsynonymous SNV	PITPNC1:NM_012417:exon9:c.A808G:p.S270G	.	425	1095	2	0	0	2	0.000912409	.	.	.	3368883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00719003653006	.	.	0.0001	0	0	0	0	1.499e-05	0.0011	0.0007	9.06e-05	14	154602	rs778429473	7.663e-05	7.661e-05	4.493e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0007	0.0007	0	2.236e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0009	3.288e-05	3.284e-05	2.571e-05	4.038e-05	0.0006	1.262e-05	7.98e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	.	.	.	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000014	0.62929	D	0.178401	0.989563	0.81001	D	1.295	0.32453	L	0.73	0.50721	T	.	.	.	0.168	0.17828	-1.0554	0.12934	T	0.068	0.27811	T	10	0.041391283	0.02790	T	0.00719	0.19061	T	.	.	0.201	0.11522	0.151262610727	0.14761	0.4965256506311141	0.49573	0.586081728629	0.54225	0.465904027224	0.34119	T	0.01324	0.11486	T	-0.446194	0.01189	T	-0.486508	0.23758	T	0.121741172166551	0.14599	T	0.792121	0.43364	T	0.10483082	0.24783	0.20736174	0.44991	0.10483082	0.24782	0.20736174	0.44990	-7.869	0.60174	D	.	.	0.063	0.01428	B	.	.	3.334618	0.45925	22.2	0.96320008337444596	0.29410	0.97817	0.77351	D	AEFGBI	0.903217	0.85203	D	-0.179250484696181	0.33999	1.935427	0.035507031932653	0.41375	2.484804	0.942268721866049	0.27514	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.223000	0.77520	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.9277:0.0:0.0723:0.0	10.406	0.43440	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2055.33	34	chr17	67692697	.	A	G	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.048;SOR=0.693	GT:AD:DP:GQ:PL	0/1:115,89:204:99:2069,0,2990	18	0	1	0
chr17	74893498	74893533	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	-	exonic	FADS6	.	nonframeshift deletion	FADS6:NM_178128:exon1:c.63_98del:p.T22_P33del	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266381884	0.0022	0.0022	0.0022	0.0023	0.0046	0.0022	0.0021	0.0032	0.0027	0.0010	0.0009	0.0041	5.498e-05	0.0009	0.0046	0.0025	0.0031	0.0007	0.0071	0.0063	0.0079	0.0063	0.0112	0.0067	0.0066	0.0105	0.0102	0.0038	0	0.0047	0.0061	0.0013	0.0011	0.0082	0.0112	0.0064	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7973.29	47	chr17	74893497	.	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C	7973.29	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.241;DP=1234;ExcessHet=11.1788;FS=1.753;InbreedingCoeff=-0.4615;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.36;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,24:42:99:.:.:852,0,1413:.	17	0	2	0
chr17	74893524	74893578	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	0	exonic	FADS6	.	.	.	.	431	885	175	21	10	227	0.10921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5823.3	64	chr17	74893524	.	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	*	5823.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.72;DP=1147;ExcessHet=0.1204;FS=2.468;InbreedingCoeff=0.272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.731;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,24:42:99:.:.:852,0,1413:.	17	0	2	0
chr17	74893569	74893569	-	GGTTCCATGGGCTCCGTAGGTTCCATCGGCTCCGTG	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.26_27insCACGGAGCCGATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.617e-05	6.733e-05	4.464e-05	4.775e-05	0.0002	3.608e-05	3.295e-05	6.552e-05	4.258e-05	0	0	0	0.0002	4.453e-05	0	4.78e-05	2.062e-05	3.26e-05	7.399e-05	0.0002	9.662e-05	5.039e-05	9.886e-05	3.774e-05	2.814e-05	4.243e-05	2.925e-05	8.139e-05	0	7.634e-05	0	0	0	0	9.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	810.55	60	chr17	74893569	.	A	AGGTTCCATGGGCTCCGTAGGTTCCATCGGCTCCGTG	810.55	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=1;MLEAF=0.026;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:1041,0,1118:.	18	0	1	0
chr17	75267554	75267554	A	C	exonic	MIF4GD	.	nonsynonymous SNV	MIF4GD:NM_001242501:exon4:c.T425G:p.L142W,MIF4GD:NM_001363806:exon4:c.T269G:p.L90W,MIF4GD:NM_001242500:exon5:c.T527G:p.L176W,MIF4GD:NM_001365752:exon5:c.T425G:p.L142W,MIF4GD:NM_001365753:exon5:c.T425G:p.L142W,MIF4GD:NM_001365754:exon5:c.T425G:p.L142W,MIF4GD:NM_001365755:exon5:c.T425G:p.L142W,MIF4GD:NM_001370592:exon5:c.T425G:p.L142W,MIF4GD:NM_001242498:exon6:c.T548G:p.L183W,MIF4GD:NM_001365751:exon6:c.T548G:p.L183W,MIF4GD:NM_020679:exon6:c.T527G:p.L176W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0490744511845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.81110	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	1.82	0.25018	T	-3.73	0.70920	D	0.717	0.73465	-0.9903	0.32525	T	0.147	0.47129	T	9	0.65248024	0.69683	D	0.049074	0.63654	D	0.316	0.63799	0.574	0.69826	0.546217525997	0.54276	0.42496367132253404	0.42413	1.08107058117	0.77135	0.642436921597	0.58910	T	0.156395	0.49855	T	0.0798134	0.62020	D	-0.12313	0.61545	T	0.90868369491697	0.56335	D	0.931007	0.78262	D	0.59385514	0.72359	0.701723	0.82423	0.59385514	0.72360	0.701723	0.82424	-10.986	0.79582	D	.	.	0.619	0.82816	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.855061	0.79394	27.1	0.8999056746194265	0.19282	0.99449	0.96169	D	AEFDBHCI	0.939024	0.93906	D	0.779482749905335	0.84805	8.391952	0.789218168460202	0.89035	9.812104	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.601644	0.32324	0	0.662433	0.64102	0	.	.	5.89	5.89	0.94758	8.676000	0.90929	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	16.298	0.82613	970	0.06235	MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3;MIF4G-like, type 3;MIF4G-like, type 3;.;.;MIF4G-like, type 3;MIF4G-like, type 3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1426.33	39	chr17	75267554	.	A	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.616;DP=715;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.234;SOR=0.596	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1440,0,1096	18	0	1	0
chr17	75621511	75621511	A	G	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon51:c.A7832G:p.Q2611R	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.720873	0.29923	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.1519	0.78869	T	0.482	0.80220	T	8	0.21313232	0.37794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082259	0.36786	T	.	.	.	.	.	.	.	.	.	0.592541	0.21854	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.;.	.;.	1.119988	0.15057	11.55	0.94839205322768705	0.25627	0.38931	0.26099	N	AEFBCI	.	.	.	-0.218764950595555	0.32365	1.824411	-0.259195682887464	0.29455	1.650421	0.999632212585654	0.41205	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	0.753643	0.44766	4.64	4.64	0.57399	0.021000	0.13381	0.414000	0.18144	0.756000	0.94297	0.000000	0.06391	0.653000	0.25975	0.316000	0.24877	1.0:0.0:0.0:0.0	13.013	0.58145	976	0.04745	MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 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	511.33	39	chr17	75621511	.	A	G	511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.105;DP=761;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=-0.36;SOR=0.85	GT:AD:DP:GQ:PL	0/1:50,25:75:99:525,0,1296	18	0	1	0
chr17	75948415	75948415	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_001185039:exon13:c.C1657T:p.R553C,ACOX1:NM_004035:exon13:c.C1771T:p.R591C,ACOX1:NM_007292:exon13:c.C1771T:p.R591C	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	256457	not_provided|Acyl-CoA_oxidase_deficiency|not_specified|ACOX1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	0.0095	0.013778	0.0038	0.0260	0.0025	0	0	0.0016	0.0055	0.0028	0.003758	581	154602	rs35629489	0.0020	0.0020	0.0020	0.0020	0.0270	0.0019	0.0019	0.0255	0.0250	0.0270	0.0034	0.0087	0	0	0.0128	0.0010	0.0042	0.0029	0.0087	0.0087	0.0085	0.0090	0.0259	0.0083	0.0082	0.0246	0.0241	0.0259	0	0.0062	0.0089	0.0002	0	0.0170	0.0013	0.0052	0.0037	0.004	0.65419	D	0.067	0.44302	T	0.268	0.36540	B	0.045	0.31143	B	0.000003	0.62929	D	0.099482	0.954204	0.37866	D	2.97	0.85306	M	0.85	0.47130	T	-3.82	0.71997	D	0.688	0.69387	-0.6081	0.64483	T	0.080	0.31735	T	10	0.018170953	0.00393	T	.	.	.	0.335	0.65718	.	.	0.609094465904	0.60595	0.5070001610935612	0.50622	0.54065144501	0.51256	0.32819890976	0.14661	T	0.654573	0.89559	D	-0.362422	0.03995	T	-0.273099	0.47506	T	0.0385937900678613	0.03437	T	0.916108	0.70062	D	0.21927117	0.44454	0.18200777	0.41100	0.21743071	0.44226	0.18375361	0.41384	-4.18	0.26461	T	0.315368797098266	0.41340	0.156	0.35498	B	.;.	.;.	4.128750	0.61766	24.4	0.99914957238359692	0.98309	0.95532	0.65096	D	AEFBI	0.804815	0.72957	D	0.378049603987913	0.60235	4.210158	0.318088061416153	0.56604	3.823808	0.181577181804373	0.17878	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	5.616000	0.67389	5.816000	0.50045	0.676000	0.76740	1.000000	0.71638	0.994000	0.32194	0.624000	0.32000	0.0:0.0:1.0:0.0	19.738	0.96212	742	0.52873	.;Acyl-CoA oxidase, 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	0	0	1	0	0.015152	0.040404	0.012228	0.005848	0.000000	0.025862	0.012346	0.000000	0.05263	1699.83	34	chr17	75948415	.	G	A	1699.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.119;FS=0.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.59;SOR=0.613	GT:AD:DP:GQ:PL	0/1:52,37:89:99:910,0,1266	17	0	2	0
chr17	79735415	79735415	G	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.G772A:p.D258N	.	436	1084	2	0	0	2	0.000921659	.	.	.	3245304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.025302201462	.	.	1.652e-05	0	0	0	0	3.008e-05	0	0	1.29e-05	2	154602	rs782158669	3.078e-05	3.078e-05	2.314e-05	3.85e-05	0.0026	2.347e-05	2.095e-05	0.0016	0.0013	0	0	0	0	0	0.0026	2.248e-05	8.279e-05	0	3.944e-05	3.94e-05	3.854e-05	4.038e-05	5.881e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.881e-05	0.0005	0	0.116	0.28395	T	0.381	0.15939	T	.	.	.	.	.	.	0.068808	0.21647	N	0.467813	0.937198	0.37182	D	.	.	.	-0.93	0.75215	T	-2.14	0.48523	N	0.088	0.06587	-0.8799	0.49770	T	0.168	0.50810	T	10	0.15790501	0.29705	T	0.025302	0.48274	D	0.145	0.38592	.	.	0.66790570697	0.66510	0.4349795512532151	0.43414	0.260873036552	0.28649	0.292006403208	0.09214	T	.	.	.	-0.257755	0.13163	T	-0.500367	0.22309	T	0.088515393435955	0.11039	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	1.477086	0.19022	14.05	0.99209970744975706	0.55563	0.58423	0.30638	D	AEFDGBI	0.600047	0.59283	D	-0.550308749146913	0.20474	1.07956	-0.43569782115485	0.23957	1.309291	0.997332448351367	0.35509	0.497415	0.19182	0	0.573078	0.20572	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	4.42	0.52775	1.213000	0.32011	3.219000	0.36843	0.676000	0.76740	0.389000	0.26079	1.000000	0.68203	0.335000	0.25317	0.2043:0.0:0.7957:0.0	10.523	0.44117	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4045.33	34	chr17	79735415	.	G	A	4045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=1026;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=1.08;SOR=0.798	GT:AD:DP:GQ:PL	0/1:126,149:275:99:4059,0,3006	18	0	1	0
chr17	80090185	80090216	AACACGGGACGCACGCAGGCACGTGCACGAAG	-	exonic	CCDC40	.	frameshift deletion	CCDC40:NM_001243342:exon18:c.2879_2910del:p.H964Rfs*119	Ciliary dyskinesia, primary, 15	0	1495	18	7	2	34	0.010589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261823511	0.0037	0.0062	0.0035	0.0039	0.0112	0.0036	0.0035	0.0105	0.0103	0.0097	0.0042	0.0045	0.0070	0.0038	0.0035	0.0026	0.0045	0.0112	0.0014	0.0018	0.0015	0.0012	0.0033	0.0012	0.0012	0.0029	0.0027	0.0033	0	0.0011	0.0003	0.0004	0.0012	0	0.0004	0.0034	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	933.29	34	chr17	80090184	.	CAACACGGGACGCACGCAGGCACGTGCACGAAG	C	933.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.153;DP=1585;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.11;MQRankSum=0.862;QD=6.48;ReadPosRankSum=-4.287;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,94:144:99:0|1:80090184_CAACACGGGACGCACGCAGGCACGTGCACGAAG_C:947,0,1520:80090184	18	0	1	0
chr17	80090197	80090197	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	14354.3	129	chr17	80090197	.	A	*	14354.3	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.674;DP=1989;ExcessHet=1.1637;FS=7.165;InbreedingCoeff=-0.1186;MLEAC=1;MLEAF=0.031;MQ=56.03;MQRankSum=-1.664;QD=15.43;ReadPosRankSum=4.04;SOR=0.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,94:144:99:0|1:80090184_CAACACGGGACGCACGCAGGCACGTGCACGAAG_C:947,0,1520:80090184	15	0	1	3
chr17	80090199	80090199	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	1	1468	9	3	41	56	0.00508302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5031.96	241	chr17	80090199	.	G	*	5031.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=1951;ExcessHet=0.0101;FS=1.163;InbreedingCoeff=0.4412;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=4.39;QD=11.38;ReadPosRankSum=1.25;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,94:144:99:0|1:80090184_CAACACGGGACGCACGCAGGCACGTGCACGAAG_C:947,0,1520:80090184	18	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	63947.4	121	chr17	80090216	.	G	*	63947.4	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.47;DP=3300;ExcessHet=1.4758;FS=1.376;InbreedingCoeff=-0.0747;MLEAC=1;MLEAF=0.031;MQ=55.63;MQRankSum=-4.15;QD=25.59;ReadPosRankSum=-1.834;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,94:144:99:0|1:80090184_CAACACGGGACGCACGCAGGCACGTGCACGAAG_C:947,0,1520:80090184	15	0	1	3
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	34630.8	180	chr17	80090265	.	G	*	34630.8	.	AC=1;AF=0.045;AN=22;BaseQRankSum=4.58;DP=2417;ExcessHet=0.9394;FS=3.116;InbreedingCoeff=0.1;MLEAC=1;MLEAF=0.045;MQ=52.59;MQRankSum=-5.242;QD=25.84;ReadPosRankSum=0.713;SOR=0.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,78:97:99:0|1:80090184_CAACACGGGACGCACGCAGGCACGTGCACGAAG_C:1662,0,583:80090184	10	0	1	8
chr17	80319469	80319469	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_020954:exon17:c.G3181A:p.A1061T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000944074717015	7.7e-05	.	4.964e-05	9.735e-05	0.0003	0	0	3.011e-05	0	0	3.88e-05	6	154602	rs369944980	1.437e-05	1.436e-05	1.361e-05	1.513e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.675e-05	0.0002	8.944e-05	3.826e-05	0	0	0	4.496e-06	3.312e-05	1.159e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	0.0001	1.26e-05	7.98e-06	4.736e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.445	0.13140	T	.	.	.	.	.	.	0.568110	0.11266	N	0.732493	1	0.08975	N	.	.	.	.	.	.	0.63	0.02404	N	0.038	0.01203	-1.0057	0.28247	T	0.017	0.07092	T	8	0.0455077	0.03629	T	9.44E-4	0.00934	T	0.033	0.08068	.	.	0.130388298395	0.12655	.	.	.	.	.	.	.	.	.	.	-0.491149	0.00640	T	-0.746306	0.03631	T	0.166886493563652	0.18365	T	0.30457	0.05801	T	.	.	.	.	.	.	.	.	-3.312	0.13893	T	.	.	0.077	0.06525	B	.	.	-0.538729	0.01747	0.131	0.9325578365417253	0.22948	0.00890	0.03501	N	AEFDGBI	0.017430	0.00456	N	-1.56957863204248	0.01423	0.0620793	-1.64538744072273	0.01400	0.06326806	0.930406714216701	0.27007	0.562547	0.31514	0	0.577304	0.33150	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.07	-5.51	0.02366	-0.645000	0.05506	-0.885000	0.07050	-0.760000	0.03515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2138:0.2537:0.2728:0.2597	0.399	0.00393	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1060.33	40	chr17	80319469	.	G	A	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.499;DP=737;ExcessHet=0;FS=6.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=2.06;SOR=1.714	GT:AD:DP:GQ:PL	0/1:42,35:77:99:1074,0,1231	18	0	1	0
chr17	81445562	81445562	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.C3044T:p.P1015L,BAHCC1:NM_001377448:exon10:c.C3044T:p.P1015L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0129184248862	.	.	0.0002	0	0.0016	0	0	0.0001	0	0.0003	3.88e-05	6	154602	rs782112435	8.222e-05	8.747e-05	6.471e-05	9.71e-05	0.0008	6.332e-05	5.673e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0008	7.148e-05	6.469e-05	7.924e-05	0.0001	0.0001	0.0001	6.718e-05	0.0004	6.51e-05	5.321e-05	0.0001	8.281e-05	0	0	0.0003	0	0	0	0	0.0001	0.0009	0.0004	0.043	0.41364	D	0.043	0.49942	D	0.019	0.20242	B	0.004	0.12133	B	0.014508	0.28512	N	0.231707	0.999508	0.47320	D	1.435	0.35949	L	2.23	0.18083	T	-6.69	0.92433	D	0.422	0.46180	-1.0558	0.12829	T	0.026	0.11131	T	10	0.03357041	0.01537	T	0.012918	0.31907	T	0.109	0.30843	.	.	0.0884992946249	0.08302	0.22989762915942735	0.22904	0.0852180447712	0.09633	0.547501683235	0.45505	T	0.533314	0.83889	D	-0.506496	0.00526	T	-0.602289	0.12620	T	0.0414021135306291	0.03945	T	0.733627	0.34942	T	0.045283347	0.07385	0.08000246	0.18060	0.045283347	0.07385	0.08000246	0.18059	-4.735	0.33824	T	.	.	0.135	0.29283	B	.;.	.;.	2.390739	0.30700	18.52	0.95068962337292395	0.26106	0.56310	0.30084	D	AEFDBI	0.097578	0.19678	N	-0.858810386479831	0.11834	0.5733007	-0.804947764401323	0.14376	0.7508223	0.0393510304796575	0.14390	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.39	1.16	0.19936	0.626000	0.24185	0.931000	0.22780	-0.249000	0.07183	0.465000	0.26683	0.712000	0.26298	0.426000	0.27362	0.0:0.6635:0.2531:0.0835	8.809	0.34115	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	42	chr17	81445562	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=746;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.079;SOR=0.851	GT:AD:DP:GQ:PL	0/1:29,36:65:99:1051,0,638	18	0	1	0
chr17	82037482	82037482	T	C	exonic	DCXR	.	nonsynonymous SNV	DCXR:NM_001195218:exon2:c.A112G:p.T38A,DCXR:NM_016286:exon2:c.A118G:p.T40A	.	4	1506	12	0	0	12	0.00396825	.	.	.	2355226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.28319337598	.	.	0.0009	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs748809586	0.0001	0.0001	9.285e-05	0.0002	0.0017	0.0001	0.0001	0.0012	0.0011	0	5.486e-05	0	0	0	0.0017	6.851e-05	0.0001	0.0014	0.0001	0.0001	7.714e-05	0.0001	0.0010	7.091e-05	5.747e-05	0.0004	0.0003	2.41e-05	0	0	0	0	0	0	0.0001	0.0009	0.0010	0.014	0.53172	D	0.05	0.48080	T	0.1	0.25713	B	0.168	0.35187	B	0.000039	0.55875	D	0.119707	0.998	0.44627	D	0.24	0.09707	N	1.96	0.87352	T	-4.12	0.75058	D	0.146	0.14763	-1.0575	0.12388	T	0.032	0.13898	T	9	0.048543125	0.04318	T	0.283193	0.90304	D	0.080	0.23350	0.339	0.32979	0.840640433623	0.83911	0.7082919502271849	0.70771	0.44341422506	0.44268	0.801524281502	0.82195	T	0.107848	0.42039	T	-0.354193	0.04469	T	-0.306178	0.44067	T	0.0934901164785328	0.11626	T	0.918408	0.73561	D	0.7222465	0.79286	0.57929873	0.75618	0.7222465	0.79288	0.57929873	0.75619	-10.277	0.75554	D	.	.	0.318	0.54485	B	.;.	.;.	3.531716	0.49552	22.8	0.58916872520815222	0.06102	0.83898	0.42989	D	ALL	0.400328	0.47526	N	-0.57909166074109	0.19580	1.025909	-0.553674126368554	0.20709	1.116947	0.999999999999997	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.81	2.51	0.29435	1.158000	0.31347	3.168000	0.36599	0.643000	0.52288	0.760000	0.29243	1.000000	0.68203	0.002000	0.04165	0.1459:0.0803:0.0:0.7738	6.04	0.18954	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001584	0.000000	0.001416	0.000000	0.000000	0.008929	0.000000	0.000000	0.05263	1105.83	34	chr17	82037482	.	T	C	1105.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.12;DP=669;ExcessHet=0.119;FS=1.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.049;SOR=0.475	GT:AD:DP:GQ:PL	0/1:23,27:50:99:704,0,592	17	0	2	0
chr17	82089118	82089118	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon14:c.G2155A:p.E719K	.	0	1510	12	0	0	12	0.00395778	.	.	.	438729	Epileptic_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0059	0.00339457	0.0084	0.0042	0.0062	0	0.0020	0.0135	0.0037	0.0031	0.0042108	651	154602	rs12946178	0.0063	0.0063	0.0064	0.0063	0.0067	0.0062	0.0062	0.0065	0.0065	0.0043	0.0041	0.0277	5.482e-05	0.0016	0.0030	0.0067	0.0063	0.0031	0.0054	0.0054	0.0056	0.0052	0.0068	0.0051	0.0050	0.0063	0.0061	0.0042	0.0011	0.0036	0.0282	0.0002	0.0008	0	0.0068	0.0043	0.0023	0.067	0.35918	T	0.06	0.45961	T	0.996	0.68779	D	0.913	0.64886	D	0.000157	0.49130	N	0.136125	0.999937	0.51612	D	1.52	0.38360	L	1.01	0.41058	T	-2.34	0.51811	N	0.463	0.53972	-0.9899	0.32626	T	0.112	0.40168	T	10	0.007240474	0.00165	T	.	.	.	0.175	0.44197	.	.	0.494500015766	0.49084	0.6882328135493098	0.68763	.	.	0.538585305214	0.44246	T	0.476427	0.80707	T	-0.523794	0.00418	T	-0.517209	0.20578	T	0.0264391241644492	0.01466	T	0.890411	0.62412	D	0.4200661	0.62096	0.2971438	0.55747	0.4200661	0.62096	0.2971438	0.55746	-7.239	0.55761	T	.	.	0.140	0.30765	B	.;.	.;.	3.821858	0.55193	23.6	0.99907395407479893	0.97801	0.97180	0.73161	D	AEFDGBHCI	0.673627	0.63962	D	0.0989701595917784	0.46414	2.882152	0.0594138340548689	0.42529	2.573926	0.999997022183106	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.15	3.18	0.35615	4.543000	0.60395	4.699000	0.44401	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.9155:0.0:0.0845	12.165	0.53428	.	.	Acyl transferase|Polyketide synthase, acyl transferase domain;Acyl transferase|Polyketide synthase, acyl transferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006091	0.000000	0.006849	0.002976	0.100000	0.000000	0.003067	0.007634	0.02632	1850.33	35	chr17	82089118	.	C	T	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.749;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.877;SOR=0.731	GT:AD:DP:GQ:PL	0/1:96,75:171:99:1864,0,2328	18	0	1	0
chr17	82586096	82586096	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.C1472T:p.A491V	.	395	1112	15	0	0	15	0.00669942	.	.	.	715857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.475	.	0.0059	0.00379393	0.0055	0.0012	0.0058	0.0001	0.0035	0.0082	0.0069	0.0009	0.0053686	830	154602	rs12150682	0.0067	0.0066	0.0068	0.0066	0.0102	0.0065	0.0065	0.0081	0.0075	0.0014	0.0060	0.0046	0.0002	0.0043	0.0102	0.0077	0.0063	0.0012	0.0051	0.0051	0.0054	0.0048	0.0078	0.0048	0.0047	0.0072	0.0070	0.0015	0.0033	0.0077	0.0043	0	0.0034	0	0.0078	0.0057	0.0006	0.021	0.49117	D	0.289	0.21078	T	0.015	0.17086	B	0.004	0.10090	B	0.005001	0.33199	N	0.260139	1	0.08975	N	2.16	0.60381	M	-3.34	0.93975	D	-2.07	0.47344	N	0.361	0.40264	-0.2949	0.75127	T	0.481	0.80190	T	10	0.010585904	0.00235	T	.	.	.	0.475	0.76751	.	.	0.947736088309	0.94719	0.2888257309465413	0.28795	0.0536418645846	0.05925	0.518139362335	0.41364	T	0.215675	0.57762	T	-0.104586	0.35665	T	0.0826839	0.75757	D	0.00870454469820071	0.00107	T	0.780822	0.41560	T	0.14337508	0.32955	0.12295554	0.29654	0.14337508	0.32954	0.12295554	0.29654	-4.125	0.25658	T	.	.	0.091	0.12985	B	.	.	3.280943	0.44954	22.0	0.99670068608133344	0.78523	0.82699	0.41891	D	AEFDGBCI	0.212385	0.33808	N	-0.372058707693932	0.26470	1.444825	-0.347771091130667	0.26577	1.468967	0.907593495823822	0.26263	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	3.37	0.37692	2.628000	0.46143	2.899000	0.35438	0.599000	0.40250	0.980000	0.35271	0.995000	0.32472	0.268000	0.23719	0.0:0.7788:0.0:0.2212	9.069	0.35641	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.045455	0.004087	0.014706	0.000000	0.000000	0.003049	0.015152	0.02632	2208.33	34	chr17	82586096	.	C	T	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.544;SOR=0.673	GT:AD:DP:GQ:PL	0/1:100,82:182:99:2222,0,2382	18	0	1	0
chr18	694264	694264	G	C	exonic	ENOSF1	.	nonsynonymous SNV	ENOSF1:NM_001354065:exon3:c.C134G:p.A45G,ENOSF1:NM_001354066:exon4:c.C380G:p.A127G,ENOSF1:NM_001354067:exon4:c.C524G:p.A175G,ENOSF1:NM_017512:exon4:c.C380G:p.A127G,ENOSF1:NM_202758:exon4:c.C524G:p.A175G	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00909152895356	.	0.000599042	0.0006	0	0	0	0	0	0	0.0041	0.0004528	70	154602	rs370363817	0.0002	0.0002	8.848e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	2.987e-05	0	0	0	0	0.0002	4.496e-06	0.0002	0.0027	7.88e-05	7.874e-05	2.57e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	6.539e-05	0	0	0	0	0	0	0.0023	0.144	0.25255	T	0.126	0.35205	T	0.083	0.24734	B	0.094	0.30180	B	0.000000	0.84330	N	0.049049	0.999892	0.81001	D	0.435	0.12660	N	1.14	0.54540	T	-2.91	0.60982	D	0.732	0.74280	-0.9327	0.43740	T	0.167	0.50615	T	10	0.025712222	0.00757	T	0.009092	0.23917	T	0.238	0.54217	0.811	0.92719	0.366848117066	0.36290	.	.	0.0157190196081	0.01500	0.576902329922	0.49649	T	0.153345	0.49415	T	-0.245371	0.14671	T	-0.127656	0.61168	T	0.234457294210768	0.22162	T	0.996884	0.98808	D	0.6496469	0.75345	0.5877017	0.76084	0.6496469	0.75346	0.5877017	0.76085	-8.526	0.67058	D	.	.	0.077	0.10062	B	.;.;.;.;.	.;.;.;.;.	3.584328	0.50547	23.0	0.99306910177286778	0.58832	0.98183	0.80324	D	AEFBI	0.885813	0.81665	D	0.154815413817221	0.49041	3.108938	0.336204490098039	0.57681	3.934745	0.999999999998747	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.789000	0.84373	9.458000	0.80857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.420	0.90532	834	0.38640	.;.;Mandelate racemase/muconate lactonizing enzyme, N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	985.33	38	chr18	694264	.	G	C	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=808;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.417;SOR=0.627	GT:AD:DP:GQ:PL	0/1:62,43:105:99:999,0,1671	18	0	1	0
chr18	2913084	2913084	T	C	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon8:c.T2842C:p.Y948H	.	414	1105	3	0	0	3	0.00135563	.	.	.	2757281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	0.00239617	0.0015	9.866e-05	0	0	0	0	0	0.0109	0.0012678	196	154602	rs202238806	0.0007	0.0007	0.0004	0.0010	0.0105	0.0006	0.0006	0.0100	0.0098	2.987e-05	0	0	0	0	0.0002	5.396e-06	0.0008	0.0105	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	2.408e-05	0	0	0	0	0	0	2.942e-05	0	0.0089	0.162	0.23541	T	0.242	0.24264	T	0.998	0.73220	D	0.942	0.67772	D	0.236645	0.15803	N	0.598323	1	0.08975	N	1.39	0.34934	L	3.69	0.04114	T	-1.65	0.39503	N	0.463	0.49965	-1.0138	0.25720	T	0.030	0.12760	T	10	0.009021997	0.00204	T	.	.	.	0.212	0.50341	0.67	0.80803	0.278143212241	0.27437	0.6387599177957377	0.63809	0.516013792325	0.49495	0.500825405121	0.38943	T	0.148729	0.48741	T	-0.459608	0.00989	T	-0.423577	0.30665	T	0.132417980583228	0.15604	T	0.788521	0.42806	T	0.10754393	0.25431	0.09080097	0.21313	0.10754393	0.25430	0.09080097	0.21313	-3.816	0.21044	T	.	.	0.146	0.32178	B	.	.	3.688667	0.52549	23.2	0.99416531135477726	0.63549	0.33323	0.24800	N	AEFDGBCI	0.268447	0.38494	N	-0.0238208150164076	0.40778	2.42757	-0.156980002540766	0.33140	1.892665	0.999999998893449	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.38	5.38	0.77279	2.507000	0.45102	6.118000	0.53749	0.665000	0.62972	0.077000	0.22263	1.000000	0.68203	0.087000	0.17632	0.1408:0.0:0.0:0.8592	10.851	0.45977	867	0.32089	C1q domain|C1q domain|C1q domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	464.33	41	chr18	2913084	.	T	C	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.567;SOR=0.705	GT:AD:DP:GQ:PL	0/1:15,17:32:99:478,0,391	18	0	1	0
chr18	2925361	2925361	C	T	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon14:c.G1801A:p.E601K,LPIN2:NM_001375809:exon14:c.G1801A:p.E601K,LPIN2:NM_014646:exon14:c.G1801A:p.E601K	Majeed syndrome	0	1461	60	1	0	62	0.0207775	.	.	.	141836	Majeed_syndrome|Autoinflammatory_syndrome|not_specified|not_provided	MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.340	.	0.0089	0.00519169	0.0079	0.0017	0.0095	0	0.0015	0.0115	0.0077	0.0027	0.0079883	1235	154602	rs61735393	0.0092	0.0092	0.0092	0.0092	0.0373	0.0091	0.0090	0.0332	0.0316	0.0023	0.0126	0.0388	7.557e-05	0.0014	0.0373	0.0094	0.0124	0.0033	0.0083	0.0083	0.0084	0.0083	0.0186	0.0079	0.0078	0.0169	0.0162	0.0021	0	0.0186	0.0340	0.0002	0.0009	0.0680	0.0103	0.0161	0.0023	0.132	0.26519	T	0.349	0.17531	T	0.313	0.32852	B	0.085	0.29395	B	0.011447	0.29527	N	0.404126	0.959629	0.38137	D	2.47	0.71715	M	-1.41	0.80560	T	-0.87	0.23590	N	0.545	0.57177	-0.5167	0.68039	T	0.253	0.62315	T	10	0.004709542	0.00099	T	.	.	.	0.340	0.66202	.	.	0.570754169833	0.56741	0.3390941518189898	0.33822	0.269212039865	0.29436	0.510089874268	0.40235	T	0.095085	0.39549	T	-0.373954	0.03399	T	-0.299547	0.44771	T	0.00959506928589877	0.00124	T	0.731327	0.34690	T	0.09177826	0.21514	0.08353188	0.19148	0.09177826	0.21514	0.08353188	0.19148	-2.958	0.09736	T	0.16489837361125692	0.20406	0.082	0.08609	B	.	.	3.024770	0.40500	21.2	0.96984728370843776	0.31875	0.80517	0.40134	D	AEFDGBI	0.202459	0.32904	N	-0.0713840561140771	0.38652	2.267046	-0.00656281212102905	0.39417	2.336846	0.999999637778072	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	3.376000	0.52148	5.844000	0.50275	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.144000	0.20092	0.0:0.9212:0.0:0.0788	13.123	0.58757	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.031408	0.030612	0.033967	0.038235	0.000000	0.060345	0.015432	0.007634	0.02632	1397.33	34	chr18	2925361	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=743;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.074;SOR=0.581	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1411,0,1375	18	0	1	0
chr18	3729160	3729162	GGT	-	exonic	DLGAP1	.	nonframeshift deletion	DLGAP1:NM_001003809:exon4:c.658_660del:p.T220del,DLGAP1:NM_001242762:exon4:c.700_702del:p.T234del,DLGAP1:NM_001242763:exon4:c.700_702del:p.T234del,DLGAP1:NM_001242764:exon4:c.682_684del:p.T228del,DLGAP1:NM_001242765:exon4:c.658_660del:p.T220del,DLGAP1:NM_001242766:exon4:c.658_660del:p.T220del,DLGAP1:NM_001308390:exon4:c.682_684del:p.T228del,DLGAP1:NM_001242761:exon7:c.1564_1566del:p.T522del,DLGAP1:NM_004746:exon7:c.1564_1566del:p.T522del	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.000798722	0.0004	0	8.973e-05	0	0	0.0003	0	0.0015	0.0003558	55	154602	rs560690735	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	6.715e-05	0	0	3.788e-05	0.0016	0.0002	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.695e-05	0.0003	0.0002	7.216e-05	0	6.533e-05	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009744	0.000000	0.009589	0.008824	0.000000	0.008621	0.015723	0.011364	0.02632	1387.29	35	chr18	3729159	.	CGGT	C	1387.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=698;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.835;SOR=0.519	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1401,0,860	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:271,172:443:99:.:.:5956,0,10574:.	6	3	10	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:265,53:318:99:818,0,6930	7	0	10	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:31,29:60:99:217,0,309	2	0	16	1
chr18	36594791	36594791	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon7:c.G611A:p.R204H,FHOD3:NM_001281740:exon7:c.G611A:p.R204H,FHOD3:NM_025135:exon7:c.G611A:p.R204H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.0495575362514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755389941	4.794e-06	8.209e-06	2.726e-06	6.884e-06	2.992e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.992e-05	0	0	2.522e-05	0	0	3.601e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999966	0.81001	D	2.64	0.77224	M	1.72	0.26588	T	-4.55	0.78553	D	0.915	0.91736	-0.7082	0.60041	T	0.194	0.54811	T	10	0.82670975	0.81847	D	0.049558	0.63863	D	0.466	0.76156	0.547	0.66156	0.473932634616	0.47021	0.5570391565318509	0.55630	0.754101649937	0.63925	0.711904168129	0.68869	T	0.440222	0.78521	T	0.0216554	0.54604	T	-0.0375417	0.67867	D	0.987776637077332	0.78208	D	0.978652	0.92496	D	0.66213906	0.76013	0.5489056	0.73920	0.66213906	0.76015	0.5489056	0.73921	-11.546	0.82569	D	.	.	0.674	0.78284	P	.;.;.	.;.;.	5.778200	0.93511	33	0.99921523048625582	0.98787	0.98229	0.80739	D	AEFDBI	0.894767	0.83409	D	0.825524876219528	0.87674	9.300533	0.746779517227932	0.85918	8.725458	0.99999999999999	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	9.917000	0.98722	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.0:0.0:1.0:0.0	16.819	0.85603	807	0.43470	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	1307.33	37	chr18	36594791	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.456;SOR=0.66	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1321,0,1212	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:200,43:243:58:58,0,4713	13	0	6	0
chr18	46240044	46240044	C	A	exonic	C18orf25	.	nonsynonymous SNV	C18orf25:NM_145055:exon3:c.C755A:p.T252N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00574211215123	8.3e-05	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs199579962	5.404e-05	5.404e-05	3.539e-05	7.288e-05	0.0002	4.41e-05	4.082e-05	4.699e-05	4.281e-05	0	2.236e-05	0	0	0	0.0002	5.845e-05	0.0001	4.637e-05	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0002	3.075e-05	2.208e-05	5.283e-05	2.834e-05	2.405e-05	0	0.0002	0.0003	0	0	0	5.88e-05	0	0	.	.	.	0.032	0.61642	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	.	.	.	.	.	.	0.897	0.89689	-0.3813	0.72611	T	0.394	0.74728	T	9	0.15661836	0.29492	T	0.005742	0.14892	T	.	.	.	.	0.281547015583	0.27767	0.36286169036748916	0.36200	.	.	.	.	.	0.097425	0.40023	T	-0.132326	0.31120	T	-0.168175	0.57609	T	0.508114337921143	0.32928	D	0.79512	0.68017	T	0.44597498	0.63786	0.496827	0.70903	0.44597498	0.63786	0.496827	0.70904	-3.66	0.18729	T	.	.	0.168	0.54041	B	.;.	.;.	4.575374	0.72228	25.8	0.99364691406599481	0.61155	0.97446	0.74802	D	AEFGBI	0.667608	0.63567	D	0.745464174583662	0.82608	7.805054	0.760309527232524	0.86925	9.048463	0.99999999999598	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.664235	0.64389	0	.	.	5.76	5.76	0.90726	5.676000	0.67802	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.976	0.97310	960	0.08626	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	33	chr18	46240044	.	C	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=700;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.597;SOR=0.919	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1260,0,984	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:25:0|1:65824683_C_G:25,0,1066:65824683	1	0	18	0
chr18	78994050	78994050	G	T	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2059T:p.V687L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0209014344449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs994118421	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.74150	D	0.959	0.55135	D	0.631	0.51788	P	0.000168	0.48594	D	0.000000	1	0.81001	D	2.69	0.78713	M	3.2	0.07236	T	-2.81	0.59389	D	0.742	0.75466	-1.0847	0.06462	T	0.077	0.30859	T	10	0.62224776	0.68043	D	0.020901	0.43581	T	0.232	0.53354	0.626	0.76141	0.757132445023	0.75492	0.36687199462665254	0.36601	1.20472787136	0.80666	0.891526579857	0.95450	D	0.07755	0.79912	T	0.0225374	0.54723	T	-0.205403	0.54134	T	0.968314588069916	0.68201	D	0.948805	0.85218	D	0.4449454	0.63720	0.37489218	0.62645	0.4449454	0.63720	0.37489218	0.62645	-9.955	0.74514	D	.	.	0.882	0.84771	P	.;.;.;.	.;.;.;.	4.407190	0.68149	25.2	0.97865343185194109	0.36492	0.93924	0.59587	D	AEFDBCI	0.930146	0.91701	D	0.753052794462009	0.83105	7.93059	0.721861504438584	0.84037	8.182219	0.999999987313981	0.74766	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.89	4.89	0.63387	8.111000	0.89418	9.997000	0.83020	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.447	0.90633	.	.	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	.	.	.	.	.	.	.	.	0.02632	1859.33	180	chr18	78994050	.	G	T	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.398;DP=2194;ExcessHet=0;FS=3.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.315;SOR=0.583	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1873,0,1956	18	0	1	0
chr19	623549	623549	G	A	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon6:c.C1195T:p.L399F	.	423	1098	1	0	0	1	0.000455166	.	.	.	2377270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0366591661322	.	.	6.687e-05	0	8.696e-05	0	0	4.577e-05	0	0.0002	5.82e-05	9	154602	rs751544061	2.19e-05	2.189e-05	1.498e-05	2.888e-05	0.0002	1.585e-05	1.356e-05	8.885e-05	7.053e-05	2.987e-05	2.236e-05	0	0	0	0	1.439e-05	1.656e-05	0.0002	3.282e-05	3.281e-05	1.285e-05	5.369e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.404e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	0.178	0.29639	T	0.43	0.35583	B	0.076	0.28435	B	0.000073	0.52346	D	0.120939	1	0.08975	N	2.42	0.70002	M	.	.	.	.	.	.	0.293	0.33140	-1.0074	0.27727	T	0.105	0.38390	T	10	0.15564167	0.29330	T	0.036659	0.57130	D	.	.	0.434	0.48500	0.159798565429	0.15598	0.3143368063974057	0.31346	0.234460416088	0.25982	0.340649485588	0.16536	T	0.112091	0.42809	T	-0.281998	0.10458	T	-0.368547	0.37058	T	0.0529789873567018	0.06016	T	0.591241	0.24302	T	0.09398543	0.22086	0.07296182	0.15800	0.09398543	0.22086	0.07296182	0.15800	-7.356	0.56593	T	.	.	0.112	0.33203	B	.;.	.;.	0.587447	0.09560	6.335	0.92288309821195302	0.21676	0.13050	0.17635	N	AEFGBCI	0.065995	0.12902	N	-0.720984475830899	0.15433	0.7776875	-0.813682395081275	0.14164	0.738698	0.999977732037662	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.63	2.3	0.27735	1.317000	0.33237	2.623000	0.33646	-0.212000	0.08331	0.010000	0.18352	0.998000	0.33993	0.001000	0.02609	0.0928:0.1677:0.7394:0.0	7.428	0.26282	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1600.33	37	chr19	623549	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.93;SOR=0.742	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1614,0,1838	18	0	1	0
chr19	812611	812611	C	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_024888:exon7:c.G2200T:p.G734C,PLPPR3:NM_001270366:exon8:c.G2116T:p.G706C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.129807370837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.031	0.53788	D	0.64	0.41805	P	0.421	0.45113	B	0.003196	0.00945	U	6.291210	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.83	0.42957	N	0.175	0.18784	-1.0537	0.13386	T	0.036	0.15378	T	10	0.102490515	0.18787	T	0.129807	0.81190	D	0.061	0.17616	0.212	0.13066	0.200317383148	0.19677	0.18918016432314416	0.18836	0.794674619907	0.65992	0.663212001324	0.61869	T	0.019579	0.15574	T	-0.267582	0.12027	T	-0.622139	0.11018	T	0.226104468107224	0.21764	T	0.515548	0.16619	T	0.17331007	0.38071	0.07554092	0.16639	0.17331007	0.38071	0.07554092	0.16639	-7.47	0.58248	T	.	.	0.127	0.27009	B	.;.	.;.	0.671515	0.10401	7.123	0.9670741037867131	0.30799	0.04525	0.10155	N	AEFDBHCI	0.116551	0.22870	N	-1.19285698152684	0.05108	0.2320608	-1.27295022563282	0.04799	0.2272671	0.942625006419798	0.27530	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.65	-1.39	0.08526	-0.939000	0.04043	-0.757000	0.07552	-1.197000	0.01367	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4174:0.1463:0.4363	6.236	0.19973	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	31.8	5	chr19	812611	.	C	A	31.8	.	AC=2;AF=0.063;AN=32;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.4119;MLEAC=1;MLEAF=0.031;MQ=60;QD=15.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	0	3
chr19	1233512	1233512	G	C	exonic	CBARP	.	nonsynonymous SNV	CBARP:NM_152769:exon8:c.C893G:p.A298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0667501106284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	1.368e-06	0	1.383e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.033	0.60972	D	.	.	.	.	.	.	0.000015	0.62929	D	0.066251	1	0.81001	D	.	.	.	1.92	0.23082	T	-3.17	0.64363	D	0.573	0.67564	-0.8895	0.48978	T	0.132	0.44386	T	10	0.45990667	0.59220	T	0.06675	0.69967	D	0.210	0.50028	.	.	0.577997890147	0.57469	0.12314320666745014	0.12240	0.438255260108	0.43864	.	.	.	0.538757	0.84168	D	-0.019262	0.48959	T	-0.265445	0.48278	T	0.993022263050079	0.83672	D	0.89651	0.63872	D	0.15207754	0.34539	0.2421917	0.49634	0.15207754	0.34539	0.2421917	0.49633	-7.452	0.57272	T	.	.	0.499	0.67238	A	.;.;.	.;.;.	4.986163	0.82625	27.8	0.99777358286891271	0.86433	0.88842	0.48968	D	AEFBCI	0.693025	0.65249	D	0.63374181799157	0.75319	6.285203	0.587345647257828	0.74031	6.068563	0.999999999999556	0.74766	0.646311	0.45356	0	0.844039	0.99811	0	0.645312	0.48771	0	0.662433	0.64102	0	.	.	4.19	4.19	0.48645	7.070000	0.76454	11.661000	0.93987	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	15.595	0.76314	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	868.33	33	chr19	1233512	.	G	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=732;ExcessHet=0;FS=6.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.951;SOR=1.528	GT:AD:DP:GQ:PL	0/1:41,32:73:99:882,0,1066	18	0	1	0
chr19	2230581	2230581	G	A	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon6:c.C416T:p.P139L	.	515	1004	3	0	0	3	0.0014918	.	.	.	2815135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.0159633295645	.	0.00219649	0	0	.	.	.	0	.	.	0.0007827	121	154602	rs138828181	0.0066	0.0028	0.0065	0.0068	0.0116	0.0064	0.0062	0.0071	0.0066	0.0010	0.0043	0.0351	4.368e-05	0.0011	0.0116	0.0071	0.0068	0.0003	0.0047	0.0047	0.0051	0.0043	0.0064	0.0045	0.0043	0.0059	0.0057	0.0010	0	0.0048	0.0340	0	0.0022	0.0238	0.0064	0.0095	0.0004	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	0.999172	0.21543	N	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.004221201	0.00084	T	0.015963	0.36975	T	.	.	.	.	0.515715180578	0.51213	0.18653237998481495	0.18571	.	.	.	.	.	.	.	.	-0.731763	0.00023	T	-0.819759	0.01457	T	.	.	.	0.343766	0.07508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.	.	0.466801	0.08365	5.117	0.82845414843635645	0.14405	0.08833	0.14703	N	AEFDBHCI	0.051372	0.09070	N	.	.	.	.	.	.	0.990100573369987	0.32040	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.45	1.09	0.19517	0.731000	0.25726	0.251000	0.16428	0.271000	0.18527	0.126000	0.23278	0.011000	0.20116	0.014000	0.10232	0.2523:0.0:0.5386:0.209	3.444	0.07042	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3990.81	36	chr19	2230581	.	G	A	3990.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.42;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4018,381,0	18	1	0	0
chr19	4511211	4511211	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2749A:p.V917M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00939080297938	.	.	0.0003	0.0005	0	0.0001	0.0002	0.0002	0.0012	0.0005	0.0003946	61	154602	rs769319984	5.206e-05	0.0043	5.839e-05	4.58e-05	0.0007	4.042e-05	3.66e-05	0.0005	0.0004	0.0007	3.2e-05	0	0	4.893e-05	0	3.124e-05	9.034e-05	4.758e-05	0.0007	0.0052	0.0007	0.0007	0.0015	0.0005	0.0005	0.0009	0.0007	0.0012	0.0017	0.0004	0	0.0015	0.0008	0.0048	0.0003	0	0.0009	0.26	0.16574	T	0.307	0.19908	T	0.007	0.14184	B	0.004	0.10090	B	0.740128	0.06423	N	1.181700	1	0.08975	N	0.875	0.21512	L	3.39	0.05710	T	0.28	0.04233	N	0.058	0.05414	-0.9374	0.43025	T	0.009	0.03011	T	10	0.031235069	0.01256	T	0.009391	0.24623	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.01708455192069713	0.01663	.	.	0.213427990675	0.00966	T	0.011551	0.10288	T	-0.407116	0.02078	T	-0.82257	0.01401	T	0.0979720722637909	0.12133	T	0.59544	0.22725	T	0.031923324	0.03122	0.044263024	0.05693	0.031923324	0.03121	0.044263024	0.05693	-4.598	0.32147	T	.	.	0.089	0.15564	B	.;.	.;.	-2.147646	0.00072	0.001	0.62831121231388565	0.07064	0.01063	0.03945	N	AEFDGBCI	0.035987	0.04722	N	-2.32081468694113	0.00041	0.001751997	-2.40954356414081	0.00037	0.00164274	0.999972101397818	0.50053	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.86	-9.71	0.00433	-6.068000	0.00100	-20.000000	0.00162	-5.981000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0612:0.4231:0.1216:0.3941	7.067	0.24336	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046324	0.070707	0.036685	0.052632	0.000000	0.043103	0.064024	0.026515	0.0625	16851.0	600	chr19	4511211	.	C	T	16851.0	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.84;DP=7086;ExcessHet=0;FS=0;InbreedingCoeff=0.4502;MLEAC=2;MLEAF=0.063;MQ=58.35;MQRankSum=-0.37;QD=33.3;ReadPosRankSum=1.5;SOR=0.531	GT:AD:DP:GQ:PL	1/1:1,505:506:99:16875,1508,0	15	1	0	3
chr19	4954746	4954746	G	A	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon14:c.G2093A:p.R698K,UHRF1:NM_001048201:exon15:c.G2054A:p.R685K,UHRF1:NM_001290050:exon15:c.G2054A:p.R685K,UHRF1:NM_001290051:exon15:c.G2054A:p.R685K,UHRF1:NM_001290052:exon15:c.G2054A:p.R685K	.	433	1049	38	2	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0041	0.00279553	0.0049	0.0008	0.0021	0	0.0015	0.0056	0.0045	0.0106	0.0005692	88	154602	rs62621801	0.0052	0.0052	0.0048	0.0055	0.0140	0.0051	0.0050	0.0118	0.0116	0.0007	0.0028	0.0143	5.038e-05	0.0010	0.0140	0.0049	0.0064	0.0124	0.0042	0.0042	0.0043	0.0040	0.0131	0.0039	0.0038	0.0105	0.0095	0.0008	0	0.0042	0.0147	0.0002	0.0009	0.0034	0.0058	0.0076	0.0131	.	.	.	1.0	0.04603	T	0.0	0.02946	B	0.001	0.04355	B	0.021601	0.26803	N	0.389904	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9664	0.37934	T	0.025	0.10598	T	7	0.0033281147	0.00057	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.5011052632260251	0.50032	.	.	0.265116155148	0.05515	T	0.084796	0.37357	T	-0.781554	0.00011	T	-0.886029	0.00606	T	0.0148856521144319	0.00315	T	0.783522	0.42019	T	0.14534879	0.33323	0.118098706	0.28508	0.14534879	0.33323	0.118098706	0.28508	-3.702	0.19348	T	.	.	0.060	0.01011	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.138487	0.05329	1.817	0.50478674859723482	0.04391	0.14024	0.18181	N	AEFGBHI	.	.	.	-1.61723298231365	0.01181	0.05133813	-1.65181575236333	0.01366	0.06172264	0.033033839052933	0.14085	0.156188	0.03335	0	0.12628	0.03447	0	0.17184	0.04098	0	0.221052	0.04502	0	0.193795	0.30138	4.78	-6.23	0.01875	1.269000	0.32677	0.576000	0.19656	-1.899000	0.00526	0.978000	0.35038	0.380000	0.24611	0.038000	0.14061	0.2793:0.0:0.5268:0.1939	9.401	0.37594	958	0.09170	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.015152	0.05263	5640.81	36	chr19	4954746	.	G	A	5640.81	.	AC=2;AF=0.053;AN=38;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.43;QD=32.05;SOR=0.787	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5668,528,0	18	1	0	0
chr19	5751676	5751676	C	G	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon12:c.C1017G:p.D339E	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00279689982546	0.0012	0.00119808	0.0010	0.0003	9.053e-05	0	0.0006	0.0008	0	0.0036	0.0009185	142	154602	rs182429615	0.0011	0.0011	0.0011	0.0012	0.0027	0.0011	0.0011	0.0024	0.0023	0.0002	0.0001	0	0	0.0008	0	0.0012	0.0010	0.0027	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0011	0.0010	0.0001	0	0.0003	0	0.0002	0.0008	0	0.0014	0.0009	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.813571	0.09233	N	0.866565	1	0.08975	N	-0.805	0.01590	N	2.09	0.20122	T	0.98	0.01447	N	0.125	0.11769	-0.9424	0.42234	T	0.019	0.07753	T	10	0.005914569	0.00132	T	0.002797	0.05840	T	0.018	0.03083	0.301	0.26843	0.0551355673512	0.04727	0.13120088681055211	0.13045	0.14476756542	0.16355	0.311209350824	0.12089	T	0.001084	0.00603	T	-0.765569	0.00014	T	-0.875514	0.00692	T	0.012062929750252	0.00191	T	0.162984	0.01479	T	0.0257031	0.01537	0.034226887	0.02454	0.0257031	0.01537	0.034226887	0.02453	-4.126	0.25672	T	.	.	0.124	0.26138	B	.	.	-1.924797	0.00120	0.002	0.3126584607533433	0.01753	0.00063	0.00458	N	AEFDBI	0.012733	0.00147	N	-2.60628794479312	0.00009	0.0003901138	-2.58497885225901	0.00015	0.0006500489	0.00309526264602062	0.09922	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.53	-4.38	0.03371	-2.333000	0.01188	-3.051000	0.03105	-3.100000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0853:0.5635:0.3512:0.0	11.805	0.51420	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	408.33	33	chr19	5751676	.	C	G	408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.338;SOR=0.608	GT:AD:DP:GQ:PL	0/1:21,17:38:99:422,0,518	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:84,15:104:11:11,0,1811	6	0	10	3
chr19	8138508	8138508	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon9:c.C922G:p.L308V,FBN3:NM_032447:exon9:c.C922G:p.L308V	.	421	1068	32	1	0	34	0.0156682	.	.	.	728522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.381	.	0.0076	0.00279553	0.0080	0.0021	0.0064	0	0.0124	0.0109	0.0115	0.0038	0.0074449	1151	154602	rs61729623	0.0088	0.0088	0.0087	0.0089	0.0240	0.0087	0.0086	0.0207	0.0195	0.0021	0.0066	0.0200	2.519e-05	0.0097	0.0240	0.0093	0.0093	0.0045	0.0076	0.0076	0.0078	0.0075	0.0108	0.0073	0.0071	0.0102	0.0099	0.0015	0	0.0064	0.0222	0.0004	0.0119	0.0137	0.0108	0.0175	0.0039	0.011	0.55530	D	0.037	0.51737	D	0.489	0.36925	P	0.112	0.31615	B	0.000325	0.45700	N	0.090982	0.990126	0.24211	N	1.7	0.43825	L	-3.53	0.94764	D	-2.14	0.48523	N	0.168	0.17828	-0.2518	0.76310	T	0.627	0.86915	D	10	0.0063194335	0.00143	T	.	.	.	0.381	0.69863	.	.	0.644253529098	0.64130	0.5150434642766835	0.51427	0.239067160317	0.26460	0.381766617298	0.22507	T	0.326358	0.69698	T	-0.292044	0.09432	T	-0.184316	0.56121	T	0.026532822150359	0.01479	T	0.743326	0.36245	T	0.20096573	0.42090	0.105680026	0.25409	0.20096573	0.42090	0.105680026	0.25408	-5.902	0.45453	T	.	.	0.086	0.10883	B	.;.;.	.;.;.	1.685582	0.21482	15.22	0.99053821583748192	0.51321	0.88239	0.48078	D	AEFDBI	0.261466	0.37941	N	-0.666602772438951	0.16977	0.8697793	-0.732575244432098	0.16151	0.853058	3.24746571730648E-4	0.06540	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.06	1.72	0.23498	2.155000	0.41926	.	.	-0.161000	0.11593	0.994000	0.38300	1.000000	0.68203	0.001000	0.02609	0.0:0.1538:0.6867:0.1595	9.731	0.39530	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013131	0.030928	0.012228	0.005848	0.050000	0.017241	0.015432	0.003788	0.02632	755.33	34	chr19	8138508	.	G	C	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=710;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.086;SOR=0.377	GT:AD:DP:GQ:PL	0/1:26,32:58:99:769,0,698	18	0	1	0
chr19	8511724	8511724	T	A	exonic	ZNF414	.	nonsynonymous SNV	ZNF414:NM_001146175:exon5:c.A767T:p.Y256F,ZNF414:NM_032370:exon5:c.A767T:p.Y256F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0098205500464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.521e-07	1.368e-06	1.473e-06	0	9.486e-07	0	0	.	.	0	0	0	0	0	0	9.486e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.32141	T	0.678	0.06147	T	0.002	0.09854	B	0.004	0.10090	B	0.132126	0.18598	N	0.552882	0.935859	0.26933	N	0.975	0.24501	L	2.93	0.09822	T	-0.66	0.19509	N	0.227	0.32148	-1.0381	0.17893	T	0.022	0.09193	T	10	0.11214697	0.21025	T	0.009821	0.25608	T	0.053	0.14996	0.199	0.11247	0.311387274539	0.30754	0.2515232898626761	0.25066	0.215026754008	0.24039	0.812098503113	0.83814	D	0.009764	0.08869	T	-0.166922	0.25701	T	-0.477548	0.24708	T	0.0874356207846057	0.10910	T	0.777722	0.41106	T	0.11633237	0.27441	0.045506388	0.06137	0.11633237	0.27441	0.045506388	0.06136	-1.797	0.02742	T	.	.	0.086	0.25914	B	.;.	.;.	1.832639	0.23282	15.96	0.89216466000390204	0.18608	0.72214	0.35354	D	AEFDBHCI	0.187119	0.31441	N	-0.481380314869444	0.22691	1.213426	-0.394624770606308	0.25156	1.381775	0.999988399393087	0.51787	0.712529	0.81865	0	0.643519	0.57511	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.28	3.24	0.36257	1.177000	0.31578	.	.	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.171000	0.21011	0.1766:0.0:0.0:0.8234	8.319	0.31276	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	.	.	.	.	.	.	.	.	0.02632	1018.33	34	chr19	8511724	.	T	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=870;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.392;SOR=0.914	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1032,0,608	18	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,68:393:99:0|1:8888826_T_*:2089,0,10786:8888826	2	0	17	0
chr19	8953551	8953551	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23219T:p.T7740I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00126533676546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	-1.69	0.40274	N	0.034	0.00942	-0.9413	0.42410	T	0.078	0.31224	T	8	0.11864734	0.22435	T	0.001265	0.01708	T	0.139	0.37390	0.229	0.15556	0.104622674875	0.10061	0.16965855243347536	0.16885	.	.	0.266666591167	0.05710	T	.	.	.	-0.25188	0.13869	T	-0.599584	0.12846	T	0.15432286734003	0.17442	T	0.252275	0.03843	T	.	.	.	.	.	.	.	.	-5.662	0.43354	T	.	.	0.137	0.29887	B	.	.	0.841200	0.12131	8.680	0.23754656938845095	0.01019	0.04147	0.09634	N	AEFBI	0.028830	0.02611	N	-0.703320005590979	0.15928	0.8071039	-1.00479163885088	0.09679	0.4829754	0.00198049876597583	0.09053	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.33	-4.66	0.03090	1.897000	0.39430	.	.	0.618000	0.50648	0.210000	0.24424	0.000000	0.08366	0.010000	0.09038	0.0:0.594:0.2426:0.1634	7.483	0.26584	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	.	.	.	.	.	.	.	.	0.02632	2629.33	139	chr19	8953551	.	G	A	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=2347;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.84;SOR=0.752	GT:AD:DP:GQ:PL	0/1:115,96:211:99:2643,0,3138	18	0	1	0
chr19	8964694	8964694	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A12076G:p.T4026A	.	434	1055	31	2	0	35	0.016317	.	.	.	2815426	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0022	0.00279553	0.0034	0.0004	0.0019	0	0.0002	0.0033	0.0122	0.0088	0.0032276	499	154602	rs148585362	0.0027	0.0027	0.0025	0.0029	0.0161	0.0026	0.0026	0.0135	0.0125	0.0007	0.0029	0.0145	2.519e-05	5.618e-05	0.0161	0.0021	0.0039	0.0088	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0050	0.0003	0	0.0042	0.0118	0.0002	9.42e-05	0.0238	0.0027	0.0047	0.0077	0.011	0.55530	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	-0.79	0.21860	N	0.013	0.00142	-0.9108	0.46756	T	0.003	0.00994	T	8	0.0037052333	0.00068	T	.	.	.	0.075	0.21907	.	.	0.0138822411134	0.00435	0.0659111179427683	0.06530	.	.	0.206093788147	0.00656	T	.	.	.	-0.757965	0.00016	T	-0.854718	0.00902	T	0.00588009084003625	0.00065	T	0.238576	0.03390	T	.	.	.	.	.	.	.	.	-4.171	0.26330	T	.	.	0.082	0.08899	B	.	.	-0.230600	0.02939	0.431	0.22670875842891453	0.00923	0.01979	0.05984	N	AEFBI	0.020420	0.00804	N	-2.07862487576974	0.00143	0.00610154	-2.1391363994693	0.00153	0.006729086	5.16135264836763E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-2.75	0.05564	-1.122000	0.03378	.	.	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1782:0.1271:0.3633:0.3314	1.136	0.01647	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.000000	0.021739	0.014620	0.000000	0.008621	0.009146	0.011364	0.02632	3286.33	109	chr19	8964694	.	T	C	3286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=1956;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.04;ReadPosRankSum=-0.334;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,89:164:99:0|1:8964670_T_A:3300,0,2722:8964670	18	0	1	0
chr19	9126707	9126707	G	T	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.C244A:p.L82M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.000970064711628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	0.999	0.77913	D	0.927	0.66185	D	0.071896	0.21444	N	0.234794	0.986253	0.24634	N	2.75	0.80375	M	7.41	0.00408	T	-1.76	0.41618	N	0.354	0.39558	-0.9446	0.41879	T	0.003	0.00929	T	10	0.30478245	0.48000	T	9.7E-4	0.01003	T	0.074	0.21613	0.619	0.75347	0.207176502487	0.20327	0.04985067654200401	0.04928	0.101057626783	0.11422	0.289944469929	0.08914	T	0.00529	0.04740	T	-0.235284	0.15955	T	-0.575746	0.14927	T	0.716151416301727	0.41505	D	0.630137	0.24490	T	0.31629997	0.54325	0.27267912	0.53181	0.31629997	0.54325	0.27267912	0.53180	-8.546	0.64733	D	.	.	0.165	0.36315	B	.	.	2.305762	0.29507	18.15	0.99439663377052134	0.64720	0.24527	0.22421	N	AEFDGBI	0.080116	0.16193	N	0.0247000898984706	0.42980	2.600047	-0.191523539321295	0.31847	1.806194	6.62558190352836E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	0.353	0.15294	0.059000	0.14199	.	.	0.564000	0.28548	0.063000	0.21864	0.000000	0.08366	0.493000	0.28859	0.0893:0.0:0.463:0.4478	6.517	0.21449	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1985.33	35	chr19	9126707	.	G	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=1209;ExcessHet=0;FS=4.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-2.001;SOR=0.847	GT:AD:DP:GQ:PL	0/1:83,72:155:99:1999,0,2270	18	0	1	0
chr19	9962857	9962857	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon65:c.C4813T:p.P1605S	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0526722340931	.	0.000798722	0.0008	0	0.0001	0	0	5.954e-05	0	0.0054	0.0005433	84	154602	rs547819367	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	0	2.251e-05	0	0	0	0.0003	0.0001	0.0003	0.0038	0.0001	0.0001	0.0001	0.0002	0.0031	9.74e-05	8.255e-05	0.0019	0.0015	0	0	0	0	0	0	0	8.82e-05	0.0005	0.0031	0.008	0.58626	D	0.048	0.48594	D	0.973	0.57599	D	0.867	0.61644	P	0.000677	0.42516	D	0.156073	0.999987	0.54805	D	2.08	0.57402	M	-0.61	0.71779	T	-5.97	0.89272	D	0.399	0.43995	-0.0624	0.80942	T	0.450	0.78443	T	10	0.011314273	0.00248	T	0.052672	0.65165	D	0.530	0.80188	.	.	0.823787080964	0.82212	0.570798416760693	0.57007	0.35204900141	0.37038	0.568694114685	0.48493	T	0.364316	0.72992	T	-0.305926	0.08113	T	-0.212225	0.53482	T	0.193235278474338	0.20033	T	0.987401	0.95706	D	0.47936678	0.65862	0.59586596	0.76536	0.47936678	0.65863	0.59586596	0.76537	-5.605	0.42838	T	.	.	0.220	0.45099	B	.	.	4.426141	0.68596	25.3	0.99608587080715505	0.74634	0.98932	0.88807	D	AEFDBI	0.916908	0.88376	D	0.654630552949266	0.76671	6.529412	0.629801407270462	0.77112	6.617446	0.99999927460909	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.586402	0.36253	0	.	.	4.62	4.62	0.56946	9.892000	0.98585	.	.	0.487000	0.22268	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.988	0.71018	902	0.24074	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1057.33	39	chr19	9962857	.	G	A	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.047;SOR=0.793	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1071,0,640	18	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	201.47	61	chr19	11405406	.	G	C	201.47	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.832;DP=1163;ExcessHet=0.3672;FS=116.377;InbreedingCoeff=-0.174;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.96;SOR=7.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,6:36:40:0|1:11405406_G_C:40,0,1067:11405406	11	0	3	5
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S,RGL3:NM_001161616:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	83.43	64	chr19	11405407	.	T	C	83.43	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.584;DP=1109;ExcessHet=0.119;FS=18.146;InbreedingCoeff=-0.0911;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.846;SOR=4.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,6:36:40:0|1:11405406_G_C:40,0,1067:11405406	16	0	2	1
chr19	11449092	11449092	A	G	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon15:c.A1348G:p.I450V,PRKCSH:NM_001001329:exon16:c.A1348G:p.I450V,PRKCSH:NM_001289103:exon16:c.A1378G:p.I460V,PRKCSH:NM_001289104:exon16:c.A1378G:p.I460V,PRKCSH:NM_001379608:exon16:c.A1357G:p.I453V,PRKCSH:NM_001379609:exon16:c.A1348G:p.I450V,PRKCSH:NM_002743:exon16:c.A1357G:p.I453V	Polycystic liver disease 1, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	256765	not_provided|Polycystic_liver_disease_1|not_specified	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0053	0.00778754	0.0064	0.0011	0.0013	0.0073	0.0076	0.0065	0.0089	0.0119	0.006507	1006	154602	rs34351170	0.0076	0.0076	0.0073	0.0078	0.0129	0.0074	0.0074	0.0123	0.0121	0.0015	0.0015	0	0.0041	0.0054	0.0055	0.0081	0.0062	0.0129	0.0056	0.0056	0.0054	0.0057	0.0131	0.0052	0.0051	0.0105	0.0095	0.0011	0.0429	0.0025	0.0003	0.0079	0.0075	0	0.0077	0.0047	0.0131	.	.	.	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.000324	0.45700	N	0.184815	0.999975	0.18612	N	-0.09	0.04745	N	-1.58	0.81987	D	.	.	.	0.156	0.16586	-0.8873	0.49163	T	0.203	0.55989	T	10	0.00853613	0.00193	T	.	.	.	.	.	.	.	0.283371740733	0.27958	0.5065078328404634	0.50572	.	.	0.487233489752	0.37056	T	0.153286	0.49406	T	-0.438522	0.01319	T	-0.392295	0.34284	T	0.00371138167468832	0.00039	T	0.0234976	0.00160	T	0.02781773	0.02027	0.029812073	0.01362	0.020555975	0.00618	0.027795853	0.00961	0.035	0.00366	T	.	.	0.058	0.00681	B	.;.;.;.	.;.;.;.	3.529203	0.49512	22.8	0.69236727640905305	0.08908	0.06733	0.12755	N	AEFDBCI	0.113277	0.22357	N	-0.657476909115767	0.17243	0.8856164	-0.497044359268979	0.22236	1.206725	0.629698680527482	0.21957	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	2.699000	0.46744	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1729:0.0:0.8271:0.0	9.535	0.38383	788	0.46569	.;Glucosidase 2 subunit beta-like;.;Glucosidase 2 subunit beta-like	.	.	.	.	.	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	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.009146	0.011364	0.02632	1396.33	34	chr19	11449092	.	A	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=784;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.091;SOR=0.62	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1410,0,1762	18	0	1	0
chr19	12771410	12771410	T	C	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon8:c.A587G:p.D196G,HOOK2:NM_013312:exon8:c.A587G:p.D196G	.	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0523327000793	0.0007	0.000399361	0.0008	0.0001	0.0003	0	0.0004	0.0011	0	0.0010	0.0007568	117	154602	rs200086187	0.0009	0.0009	0.0009	0.0010	0.0010	0.0009	0.0008	0.0010	0.0010	0.0001	0.0004	0	2.519e-05	0.0002	0.0005	0.0010	0.0012	0.0007	0.0006	0.0006	0.0009	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	4.813e-05	0	0.0007	0	0.0002	0.0002	0	0.0012	0.0009	0.0002	0.001	0.78490	D	0.086	0.53788	T	0.787	0.44504	P	0.568	0.49807	P	0.000000	0.84330	D	0.000000	0.999945	0.51968	D	2.36	0.67893	M	2.09	0.20122	T	-4.69	0.79743	D	0.488	0.52918	-1.0321	0.19777	T	0.089	0.34381	T	10	0.058320194	0.06838	T	0.052333	0.65029	D	0.188	0.46444	.	.	0.27855597813	0.27464	0.3127838881540818	0.31191	0.397034993855	0.40804	0.573969244957	0.49237	T	0.089082	0.38296	T	-0.327879	0.06272	T	-0.294193	0.45334	T	0.063046116032492	0.07639	T	0.907909	0.74042	D	0.7853553	0.82984	0.62337774	0.78053	0.7853553	0.82986	0.62337774	0.78054	-6.033	0.46555	T	.	.	0.172	0.45738	B	.;.;.;.;.;.	.;.;.;.;.;.	4.132928	0.61862	24.4	0.99813095278047081	0.89708	0.93399	0.58113	D	AEFBCI	0.748341	0.69012	D	0.351384890992405	0.58813	4.055898	0.351360229371377	0.58589	4.030393	0.9999999613433	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	3.154000	0.50391	.	.	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.724000	0.34901	0.0:0.0:0.0:1.0	13.319	0.59860	624	0.65661	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1630.33	38	chr19	12771410	.	T	C	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.333;DP=742;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.043;SOR=0.495	GT:AD:DP:GQ:PL	0/1:26,59:85:99:1644,0,748	18	0	1	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;Krueppel-associated box|Krueppel-associated box|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	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.07895	3412.79	36	chr19	14695076	.	C	G	3412.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.362;DP=970;ExcessHet=0.3672;FS=0.852;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.384;SOR=0.75	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1305,0,1460	16	0	3	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.000000	0.024194	0.004425	0.000000	0.045455	0.011628	0.012500	0.02632	2596.33	33	chr19	16736665	.	T	C	2596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049;DP=868;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.205;SOR=0.783	GT:AD:DP:GQ:PL	0/1:133,111:244:99:2610,0,3391	18	0	1	0
chr19	17011658	17011658	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon4:c.G367A:p.V123M	Anterior segement dysgenesis 8, Autosomal recessive	408	1113	1	0	0	1	0.000449035	.	.	.	3235867	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.0116762888172	0.0002	0.000199681	0.0003	0.0001	0	0	0	0.0004	0	0.0003	0.000207	32	154602	rs374384655	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0005	0.0003	5.974e-05	6.708e-05	0	0	0	0.0010	0.0002	0.0002	0.0001	0.0001	0.0001	7.71e-05	0.0002	0.0002	8.164e-05	6.72e-05	0.0001	8.876e-05	9.626e-05	0	6.54e-05	0	0	0	0	0.0002	0.0005	0	0.015	0.52492	D	0.002	0.79402	D	.	.	.	.	.	.	0.022886	0.26547	U	0.250831	0.894779	0.29295	N	.	.	.	1.09	0.58176	T	-0.98	0.25986	N	0.546	0.57263	-0.7520	0.57830	T	0.225	0.58894	T	10	0.38604808	0.54547	T	0.011676	0.29546	T	0.271	0.58633	.	.	0.685992540187	0.68330	.	.	0.620895996431	0.56390	0.698850989342	0.66977	T	0.104	0.41411	T	-0.30933	0.07806	T	-0.376131	0.36174	T	0.0485192945169725	0.05237	T	0.825317	0.48765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.094988	0.41689	21.4	0.99801366278061943	0.88639	0.34092	0.24985	N	AEFDBI	0.095810	0.19352	N	0.21424088001911	0.51890	3.366784	0.0946139030385477	0.44278	2.712615	4.21293457682864E-5	0.03989	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.06	1.89	0.24700	1.851000	0.38978	0.451000	0.18522	0.537000	0.25018	0.956000	0.33378	0.287000	0.24143	0.434000	0.27538	0.0:0.6235:0.0:0.3765	4.514	0.11334	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1943.33	33	chr19	17011658	.	C	T	1943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=1.32;SOR=0.644	GT:AD:DP:GQ:PL	0/1:50,73:123:99:1957,0,1078	18	0	1	0
chr19	17286647	17286647	-	GTGTGT	exonic	ANKLE1	.	nonframeshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGTGTGT:p.C590_L591insVC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	5.752e-05	0.0001	5.946e-05	5.55e-05	0.0017	4.687e-05	4.293e-05	0.0013	0.0012	0.0001	3.435e-05	0	0.0017	0	0	9.813e-06	0.0001	7.374e-05	0.0002	0.0003	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	8.074e-05	0	0.0001	0	0.0048	0	0	1.513e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGTGTGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/1:31,7:42:99:326,0,1291	18	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,30:61:99:.:.:1790,0,1008:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	0/1:30,30:61:99:1790,0,1008	4	6	8	1
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,32:173:99:0|1:21383168_A_G:919,0,5824:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,26:163:99:0|1:21383168_A_G:679,0,5674:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,23:161:99:0|1:21383168_A_G:550,0,5725:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,23:162:99:0|1:21383168_A_G:547,0,5767:21383168	12	0	6	1
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.08333	332.92	169	chr19	21383216	.	A	G	332.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.1;DP=1565;ExcessHet=0.3672;FS=37.063;InbreedingCoeff=-0.1015;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-11.79;QD=0.72;ReadPosRankSum=0.612;SOR=5.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,13:142:99:0|1:21383168_A_G:158,0,5378:21383168	15	0	3	1
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-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	.	.	.	.	.	.	.	.	0.08333	152.97	171	chr19	21383222	.	C	A	152.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=3.2;DP=1552;ExcessHet=0.3672;FS=31.329;InbreedingCoeff=-0.1029;MLEAC=3;MLEAF=0.083;MQ=58.96;MQRankSum=-11.74;QD=0.33;ReadPosRankSum=-0.962;SOR=4.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,12:140:99:0|1:21383168_A_G:119,0,5339:21383168	15	0	3	1
chr19	21383228	21383228	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A682G:p.R228G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224923620	0	2.466e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.677e-06	0.0004	1.304e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-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	.	.	.	.	.	.	.	.	0.05556	127.35	39	chr19	21383228	.	A	G	127.35	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.28;DP=1277;ExcessHet=0.119;FS=20.958;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.028;MQ=58.47;MQRankSum=-10.83;QD=0.48;ReadPosRankSum=-0.018;SOR=2.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,12:133:99:0|1:21383168_A_G:140,0,5045:21383168	16	0	2	1
chr19	21383229	21383229	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G683A:p.R228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307063752	0	2.465e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.692e-06	0.0003	1.305e-05	0	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-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	.	.	.	.	.	.	.	.	0.05556	85.97	39	chr19	21383229	.	G	A	85.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.74;DP=1268;ExcessHet=0.119;FS=28.966;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=58.55;MQRankSum=-10.79;QD=0.32;ReadPosRankSum=-0.193;SOR=3.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,11:132:98:0|1:21383168_A_G:98,0,5048:21383168	16	0	2	1
chr19	21383231	21383231	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232738302	0	2.329e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.685e-06	0.0004	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.05556	91.67	39	chr19	21383231	.	G	A	91.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3;DP=1261;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0693;MLEAC=2;MLEAF=0.056;MQ=58.74;MQRankSum=-11.08;QD=0.35;ReadPosRankSum=-0.587;SOR=4.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,11:132:98:0|1:21383168_A_G:98,0,5048:21383168	16	0	2	1
chr19	21383236	21383240	TTCTT	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.690_694del:p.N230Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282987711	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	0.0003	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	49.47	39	chr19	21383235	.	ATTCTT	A	49.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.77;DP=1229;ExcessHet=0.119;FS=26.461;InbreedingCoeff=-0.0534;MLEAC=1;MLEAF=0.026;MQ=58.55;MQRankSum=-10.7;QD=0.19;ReadPosRankSum=-0.696;SOR=3.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,10:130:59:0|1:21383168_A_G:59,0,5009:21383168	17	0	2	0
chr19	21383242	21383242	-	CCCA	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.696_697insCCCA:p.Q233Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486170617	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.576e-06	0.0003	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	57.44	39	chr19	21383242	.	C	CCCCA	57.44	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1198;ExcessHet=0;FS=38.461;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=58.69;MQRankSum=-11.03;QD=0.46;ReadPosRankSum=-1.487;SOR=4.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,10:126:71:0|1:21383168_A_G:71,0,4841:21383168	18	0	1	0
chr19	21383245	21383245	-	G	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.699_700insG:p.C234Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204098212	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.646e-06	0.0003	1.299e-05	0	1.483e-05	0	0	.	.	0	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	72.66	39	chr19	21383245	.	A	AG	72.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1192;ExcessHet=0;FS=38.51;InbreedingCoeff=-0.0434;MLEAC=1;MLEAF=0.026;MQ=58.67;MQRankSum=-10.93;QD=0.6;ReadPosRankSum=-2.113;SOR=4.265	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,10:121:86:0|1:21383168_A_G:86,0,4631:21383168	18	0	1	0
chr19	21383247	21383247	G	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G701C:p.C234S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231355115	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.648e-06	0.0002	1.298e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-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	.	.	.	.	.	.	.	.	0.05556	41.09	39	chr19	21383247	.	G	C	41.09	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.43;DP=1105;ExcessHet=0.119;FS=21.538;InbreedingCoeff=-0.0682;MLEAC=2;MLEAF=0.056;MQ=58.4;MQRankSum=-9.994;QD=0.18;ReadPosRankSum=-2.43;SOR=3.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,9:118:50:0|1:21383168_A_G:50,0,4550:21383168	16	0	2	1
chr19	22088908	22088908	C	A	exonic	ZNF257	.	nonsynonymous SNV	ZNF257:NM_001316998:exon2:c.C930A:p.H310Q,ZNF257:NM_033468:exon4:c.C1158A:p.H386Q,ZNF257:NM_001316996:exon5:c.C1062A:p.H354Q,ZNF257:NM_001316997:exon5:c.C930A:p.H310Q	.	.	.	.	.	.	.	.	.	.	.	3930938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.000566805124173	7.9e-05	.	8.426e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs375438382	1.575e-05	1.574e-05	2.044e-05	1.101e-05	0.0002	1.049e-05	8.76e-06	1.215e-05	1.031e-05	0	0	0	0	0	0.0002	1.89e-05	1.658e-05	0	1.318e-05	1.315e-05	2.577e-05	0	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	.	.	.	0.583	0.08419	T	0.006	0.13644	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	3.21	0.07125	T	.	.	.	0.052	0.02366	-1.0216	0.23195	T	0.053	0.22346	T	8	0.0659484	0.08975	T	5.67E-4	0.00233	T	.	.	0.189	0.09907	0.17258766438	0.16869	0.009297403749626839	0.00892	0.00990482435989	0.00904	0.313089847565	0.12374	T	0.015143	0.12759	T	-0.544819	0.00313	T	-0.838225	0.01126	T	0.0261182720900389	0.01423	T	0.00315968	0.00008	T	0.059598092	0.12133	0.056545097	0.10123	0.059598092	0.12132	0.056545097	0.10123	-7.185	0.55373	T	.	.	0.345	0.56271	A	.	.	0.161625	0.05522	1.983	0.3170186151082704	0.01800	0.02605	0.07176	N	AEFBHCI	.	.	.	-1.08021580051837	0.07008	0.3243047	-1.11035595069801	0.07501	0.3651293	1.09731779904819E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.11	-0.0519	0.13155	-4.619000	0.00239	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7893:0.0:0.2107	6.521	0.21471	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002130	0.000000	0.001366	0.000000	0.055556	0.000000	0.006211	0.000000	0.02632	1352.33	34	chr19	22088908	.	C	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=712;ExcessHet=0;FS=2.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.05;QD=15.72;ReadPosRankSum=-0.143;SOR=0.634	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1366,0,1185	18	0	1	0
chr19	23744720	23744720	G	A	exonic	ZNF681	.	nonsynonymous SNV	ZNF681:NM_138286:exon4:c.C830T:p.T277I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00107596741567	0.0009	0.000399361	0.0014	9.636e-05	8.639e-05	0	0.0035	0.0022	0.0022	0	0.0012096	187	154602	rs138088158	0.0010	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0008	2.987e-05	0.0002	0.0023	0	0.0056	0	0.0009	0.0008	0	0.0013	0.0013	0.0012	0.0015	0.0019	0.0012	0.0011	0.0017	0.0016	9.624e-05	0	0.0001	0.0026	0	0.0052	0	0.0019	0.0005	0	0.006	0.61437	D	0.0	0.92824	D	0.949	0.53761	P	0.606	0.50970	P	.	.	.	.	0.994605	0.23482	N	2.025	0.55430	M	2.17	0.19020	T	-4.61	0.79060	D	0.14	0.13911	-1.0158	0.25078	T	0.071	0.29034	T	9	0.009814501	0.00220	T	0.001076	0.01239	T	0.071	0.20720	.	.	0.0551355673512	0.04727	0.0080079804797239	0.00765	0.0112892790473	0.01053	0.370846867561	0.20954	T	0.027167	0.19952	T	-0.229101	0.16767	T	-0.566864	0.15738	T	0.115723349805617	0.14007	T	0.0386961	0.00267	T	0.13940506	0.32203	0.14308095	0.34017	0.13940506	0.32203	0.14308095	0.34016	-5.699	0.43685	T	.	.	0.165	0.36315	B	.	.	1.182336	0.15731	12.06	0.95083951481465745	0.26138	0.03746	0.09049	N	AEFBCI	0.042898	0.06714	N	-0.473793841929336	0.22942	1.228538	-0.795540600905373	0.14605	0.7639358	2.55806468206487E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	1.51	-3.01	0.05132	1.301000	0.33052	.	.	0.240000	0.18237	0.946000	0.32893	0.000000	0.08366	0.011000	0.09372	0.0:0.2303:0.5394:0.2303	4.512	0.11321	988	0.01987	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	.	.	.	.	.	.	.	.	0.02632	1480.33	39	chr19	23744720	.	G	A	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1198;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=0.935;QD=12.76;ReadPosRankSum=-0.502;SOR=0.682	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1494,0,1696	18	0	1	0
chr19	33097816	33097816	C	A	exonic	GPATCH1	.	nonsynonymous SNV	GPATCH1:NM_018025:exon8:c.C914A:p.S305Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0367510903186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	2.5	0.14408	T	-5.25	0.84035	D	0.785	0.78167	-0.9567	0.39789	T	0.102	0.37718	T	10	0.8206142	0.81268	D	0.036751	0.57186	D	0.363	0.68319	0.341	0.33302	0.37097340754	0.36704	0.6336299458085006	0.63296	0.636598720207	0.57434	0.691131949425	0.65869	T	0.375631	0.73919	T	0.238191	0.77491	D	0.104368	0.77198	D	0.996365666389465	0.89195	D	0.905309	0.66640	D	0.87193614	0.89015	0.84929025	0.91457	0.87193614	0.89017	0.84929025	0.91458	-13.422	0.91026	D	.	.	0.338	0.55740	B	.	.	4.933977	0.81364	27.5	0.99574549317079963	0.72621	0.99501	0.96794	D	AEFGBI	0.621698	0.60629	D	0.645977695378553	0.76110	6.426195	0.643791456775378	0.78148	6.818563	0.999999999999999	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	5.594000	0.67248	5.833000	0.50181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.854	0.92212	680	0.59965	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	36	chr19	33097816	.	C	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=723;ExcessHet=0;FS=10.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.529;SOR=1.226	GT:AD:DP:GQ:PL	0/1:59,38:97:99:793,0,1580	18	0	1	0
chr19	34300591	34300591	G	A	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon2:c.G118A:p.A40T	.	430	1048	43	1	0	45	0.0210182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0015	0.00878594	0.0065	0.0003	0.0014	0	0.0018	0.0032	0.0100	0.0325	0.0001153	3	26028	rs151200468	0.0041	0.0041	0.0030	0.0052	0.0322	0.0040	0.0040	0.0312	0.0308	0.0003	0.0013	0.0104	7.557e-05	0.0018	0.0113	0.0021	0.0051	0.0322	0.0031	0.0031	0.0023	0.0039	0.0381	0.0028	0.0027	0.0336	0.0319	0.0005	0	0.0025	0.0121	0	0.0018	0	0.0022	0.0066	0.0381	0.768	0.03402	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000035	0.55875	N	0.159324	0.904177	0.36245	D	-0.46	0.02758	N	.	.	.	1.2	0.01078	N	0.055	0.02658	-1.0783	0.07681	T	0.044	0.19029	T	9	0.003199309	0.00054	T	.	.	.	0.172	0.43662	.	.	0.043077524339	0.03247	0.19238402303310173	0.19156	0.227004266067	0.25252	0.530864715576	0.43156	T	0.018492	0.14898	T	-0.611079	0.00125	T	-0.626174	0.10706	T	0.00255174078607371	0.00027	T	0.824218	0.48580	T	0.0382888	0.05073	0.07576153	0.16713	0.0382888	0.05073	0.07576153	0.16713	-3.316	0.13945	T	.	.	0.060	0.00904	B	.	.	1.931464	0.24533	16.43	0.83865513919071555	0.14963	0.80372	0.40027	D	AEFDGBI	0.126563	0.24355	N	-0.448880095827538	0.23778	1.279312	-0.243438504701772	0.29997	1.685272	0.900097373006502	0.26067	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	1.48	0.21900	3.069000	0.49724	5.098000	0.47411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.444:0.0:0.556:0.0	7.279	0.25476	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.005051	0.005435	0.008772	0.000000	0.008621	0.009146	0.045455	0.02632	1521.33	35	chr19	34300591	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.603;SOR=0.632	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1535,0,1740	18	0	1	0
chr19	39893494	39893494	A	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon14:c.T5873G:p.V1958G	.	381	1124	17	0	0	17	0.00750552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0030024250845	0.0007	.	0.0026	0.0004	0.0019	0.0014	0	0.0036	0.0011	0.0025	0.0008452	22	26028	rs143773902	0.0023	0.0033	0.0023	0.0023	0.0034	0.0022	0.0022	0.0024	0.0024	0.0003	0.0016	0.0019	0.0013	0.0002	0.0034	0.0025	0.0031	0.0016	0.0021	0.0029	0.0021	0.0020	0.0042	0.0019	0.0018	0.0034	0.0031	0.0005	0	0.0042	0.0014	0.0010	0.0003	0.0034	0.0031	0.0047	0.0006	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999928	0.19486	N	.	.	.	.	.	.	.	.	.	.	.	-0.7155	0.59683	T	0.353	0.71658	T	9	0.017500848	0.00374	T	0.028083	0.50815	D	.	.	.	.	0.178374595973	0.17440	.	.	.	.	0.435142397881	0.29913	T	0.071716	0.34276	T	-0.515382	0.00468	T	-0.51739	0.20559	T	0.029716486738236	0.01945	T	0.207979	0.02486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	2.468404	0.31809	18.85	0.98694717219059647	0.44809	0.08467	0.14392	N	AEFI	0.165963	0.29251	N	-0.390168039957649	0.25818	1.404377	-0.535494584319135	0.21192	1.145263	1.19211957398794E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.44	-0.101	0.12955	-0.481000	0.06631	.	.	0.369000	0.20257	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5058:0.0:0.313:0.1812	3.220	0.06315	720	0.55521	Trypsin Inhibitor-like, cysteine rich 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	0.006403	0.000000	0.009511	0.000000	0.000000	0.000000	0.009375	0.007634	0.02632	203.33	56	chr19	39893494	.	A	C	203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.497;DP=1075;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.69;MQRankSum=-0.268;QD=1.28;ReadPosRankSum=0.89;SOR=0.853	GT:AD:DP:GQ:PL	0/1:135,24:159:99:217,0,3699	18	0	1	0
chr19	39934575	39934575	G	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon1:c.C44A:p.T15N	.	422	1003	93	4	0	101	0.0479355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.0223642	0.0372	0.0020	0.0205	0.1475	0.0089	0.0157	0.0370	0.0700	0.0139131	2151	154602	rs75388508	0.0093	0.0079	0.0075	0.0111	0.0662	0.0091	0.0091	0.0629	0.0615	0.0011	0.0054	0.0024	0.0662	0.0048	0.0356	0.0050	0.0118	0.0539	0.0082	0.0082	0.0068	0.0096	0.0595	0.0078	0.0076	0.0541	0.0519	0.0012	0	0.0061	0.0029	0.0595	0.0045	0.0136	0.0066	0.0109	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	0.615989	0.05728	U	1.308190	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0298	0.20519	T	0.003	0.00961	T	10	0.0021094084	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40049123764	0.25137	T	.	.	.	-0.646098	0.00076	T	-0.652957	0.08748	T	0.0105332991833735	0.00146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.262754	0.28918	17.95	0.90575754460203817	0.19830	0.65483	0.32753	D	AEFDBI	0.111334	0.22046	N	-0.346938018084924	0.27384	1.502045	-0.329407365831129	0.27154	1.504768	0.997071472911191	0.35252	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	0.00765	0.13393	0.736000	0.25798	.	.	-0.106000	0.15538	0.989000	0.36753	1.000000	0.68203	0.885000	0.42453	0.2802:0.1689:0.5508:0.0	4.300	0.10362	589	0.68969	.	PSMC4|FCGBP|ZNF780A|MAP3K10	Artery_Tibial|Cells_Cultured_fibroblasts|Testis|Thyroid	.	.	rs75388508	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034813	0.005102	0.023098	0.023392	0.000000	0.043103	0.051829	0.087121	0.1053	6357.43	33	chr19	39934575	.	G	T	6357.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.559;DP=1038;ExcessHet=0.7564;FS=1.102;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.545;SOR=0.793	GT:AD:DP:GQ:PL	0/1:65,81:146:99:2167,0,1624	15	0	4	0
chr19	40035100	40035100	A	T	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.T1759A:p.C587S	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.0033967589573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.842e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.851584	0.35232	D	3.775	0.95212	H	-1.95	0.85003	D	-8.9	0.98572	D	0.498	0.59816	0.730	0.93546	D	0.789	0.92847	D	9	0.94177544	0.93502	D	0.003397	0.07633	T	0.471	0.76487	0.826	0.93721	0.925253466656	0.92449	0.12353031044621374	0.12279	0.408928410691	0.41719	0.506293654442	0.39705	T	0.287301	0.66010	T	0.194496	0.73379	D	0.0416032	0.73032	D	0.996829330921173	0.90159	D	.	.	.	0.859959	0.88082	0.7482632	0.85120	0.859959	0.88084	0.7482632	0.85121	-10.734	0.78179	D	.	.	0.846	0.80757	P	.;.;.	.;.;.	3.682818	0.52433	23.2	0.99398931493318698	0.62702	0.42573	0.26907	N	AEFGBCI	0.802968	0.72824	D	0.562245237506477	0.70831	5.559645	0.343100122972913	0.58092	3.977941	0.863062483603987	0.25264	0.615465	0.37627	0	0.653731	0.59785	0	0.575934	0.27490	0	0.655142	0.61905	0	.	.	2.56	2.56	0.29842	7.807000	0.84584	.	.	0.561000	0.28422	1.000000	0.71638	0.167000	0.23311	0.013000	0.09966	1.0:0.0:0.0:0.0	8.343	0.31416	784	0.47045	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2563.33	34	chr19	40035100	.	A	T	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.82;DP=819;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.16;MQRankSum=1.78;QD=14.48;ReadPosRankSum=0.185;SOR=0.676	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2577,0,2556	18	0	1	0
chr19	40667828	40667828	A	C	exonic	NUMBL	.	nonsynonymous SNV	NUMBL:NM_001289979:exon9:c.T1347G:p.F449L,NUMBL:NM_001289980:exon9:c.T1347G:p.F449L,NUMBL:NM_004756:exon10:c.T1470G:p.F490L	.	397	1115	9	1	0	11	0.00490852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00119808	0.0104	0.0023	0.0034	0	0.0042	0.0179	0.0111	0.0037	0.0039586	612	154602	rs199956156	0.0066	0.0066	0.0067	0.0066	0.0074	0.0065	0.0065	0.0073	0.0072	0.0011	0.0015	0.0205	0	0.0033	0.0012	0.0074	0.0067	0.0026	0.0041	0.0041	0.0042	0.0041	0.0062	0.0039	0.0038	0.0057	0.0056	0.0010	0.0055	0.0022	0.0210	0	0.0030	0.0068	0.0062	0.0047	0.0023	0.002	0.72154	D	0.339	0.18071	T	0.462	0.36386	P	0.098	0.30479	B	0.000002	0.62929	D	0.060807	0.863079	0.28325	N	1.955	0.52871	M	0.41	0.57100	T	-2.37	0.52612	N	0.247	0.57177	-1.0377	0.18016	T	0.088	0.34050	T	10	0.0067274272	0.00153	T	.	.	.	0.172	0.43662	0.435	0.48664	0.459313791991	0.45557	0.7202908453495478	0.71972	0.479578996865	0.46990	0.799967050552	0.81957	T	0.342952	0.71166	T	-0.372531	0.03468	T	-0.304305	0.44267	T	0.0299612665370405	0.01984	T	0.935306	0.75759	D	0.36126417	0.57932	0.33914042	0.59683	0.36126417	0.57933	0.33914042	0.59682	-2.81	0.08276	T	.	.	0.808	0.81592	P	.;.;.	.;.;.	2.074899	0.26388	17.10	0.99351637037945917	0.60615	0.63770	0.32193	D	AEFDBI	0.379129	0.46226	N	-0.680519534277641	0.16577	0.8458458	-0.659957737909284	0.17966	0.9576518	0.999993001643941	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.866	0.18216	0.300000	0.18911	.	.	-0.159000	0.11634	0.540000	0.27267	0.010000	0.20010	0.979000	0.57723	0.6145:0.0:0.3855:0.0	8.182	0.30476	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000509	0.000000	0.002725	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	862.33	33	chr19	40667828	.	A	C	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.82;SOR=0.708	GT:AD:DP:GQ:PL	0/1:41,37:78:99:876,0,1039	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52:52:99:1|1:40667975_C_T:2262,156,0:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52:52:99:1|1:40667975_C_T:2262,156,0:40667975	1	7	11	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	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	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	194.16	35	chr19	42095395	.	A	G	194.16	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.584;DP=1387;ExcessHet=2.0135;FS=70.383;InbreedingCoeff=-0.1719;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-0.429;SOR=9.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,12:103:33:.:.:33,0,2202:.	13	0	6	0
chr19	42433056	42433056	C	T	exonic	CXCL17	.	nonsynonymous SNV	CXCL17:NM_198477:exon3:c.G182A:p.R61K	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00167731724513	.	.	8.284e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs745783734	6.842e-06	6.84e-06	8.169e-06	5.501e-06	0.0002	3.46e-06	2.52e-06	.	.	0	0	0	0	0.0001	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.107104	0.19585	N	0.432753	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	-0.9834	0.34211	T	0.029	0.12234	T	9	0.043233007	0.03151	T	0.001677	0.02779	T	.	.	0.197	0.10975	0.0297737177859	0.01360	0.03354081416504028	0.03302	0.15012103206	0.16931	0.344484329224	0.17107	T	0.011552	0.10295	T	-0.327058	0.06336	T	-0.707573	0.05422	T	0.0329737641991612	0.02467	T	0.355564	0.08068	T	0.043636177	0.06835	0.05352026	0.09029	0.043636177	0.06834	0.05352026	0.09028	-3.442	0.15628	T	.	.	0.067	0.02488	B	.	.	-0.063346	0.03865	0.838	0.35946908683419909	0.02285	0.00461	0.02221	N	AEFBI	0.020782	0.00855	N	-1.37462928545525	0.02877	0.1277004	-1.36374394720818	0.03647	0.1705288	0.0174581711359938	0.12952	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.631631	0.49550	0	.	.	3.9	-0.46	0.11567	-0.131000	0.10461	-1.781000	0.04738	-0.347000	0.05626	0.070000	0.22072	0.000000	0.08366	0.645000	0.32557	0.0:0.493:0.0:0.507	7.112	0.24574	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	40	chr19	42433056	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=694;ExcessHet=0;FS=2.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.291;SOR=0.462	GT:AD:DP:GQ:PL	0/1:30,39:69:99:983,0,775	18	0	1	0
chr19	43546618	43546618	A	G	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon12:c.T1403C:p.I468T	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00370559394717	0.0002	0.000798722	0.0006	0	0.0002	0	0	0.0001	0.0011	0.0037	0.000511	79	154602	rs376540134	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0	0	0	0	0	0.0009	0.0001	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.701e-05	0.0019	0.0015	0	0	0	0	0.0002	0	0.0034	0.0001	0	0.0031	0.563	0.06322	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.880932	0.08756	N	0.949067	1	0.08975	N	.	.	.	4.26	0.02538	T	1.83	0.00537	N	0.063	0.05542	-0.9085	0.47037	T	0.003	0.00832	T	10	0.0039694607	0.00076	T	0.003706	0.08558	T	0.014	0.01968	.	.	0.0666544352282	0.05500	0.06377680039543801	0.06316	0.267841764005	0.29320	0.244128644466	0.03174	T	0.005213	0.04657	T	-0.685326	0.00045	T	-0.758356	0.03172	T	0.0233438501658189	0.01064	T	0.543646	0.18539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00049	B	.;.	.;.	0.320567	0.06954	3.499	0.24647222208234973	0.01100	0.00259	0.01419	N	AEFBI	0.017409	0.00454	N	-1.70576821387821	0.00822	0.03551773	-1.66354260680392	0.01307	0.05899018	0.00616901992519206	0.11146	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.87	-3.41	0.04535	-0.317000	0.08101	.	.	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1654:0.402:0.3027:0.1298	3.045	0.05780	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	38	chr19	43546618	.	A	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.047;SOR=0.739	GT:AD:DP:GQ:PL	0/1:59,75:134:99:2110,0,1422	18	0	1	0
chr19	43966527	43966527	C	T	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.C1025T:p.T342I,ZNF221:NM_001297589:exon5:c.C1025T:p.T342I,ZNF221:NM_013359:exon6:c.C1025T:p.T342I	.	403	1101	18	0	0	18	0.00810811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0059	0.00359425	0.0062	0.0012	0.0047	0.0002	0.0027	0.0089	0.0055	0.0040	0.0059249	916	154602	rs56023723	0.0073	0.0073	0.0072	0.0074	0.0111	0.0072	0.0071	0.0089	0.0081	0.0013	0.0056	0.0191	2.519e-05	0.0026	0.0111	0.0080	0.0072	0.0037	0.0057	0.0057	0.0062	0.0051	0.0087	0.0054	0.0053	0.0081	0.0079	0.0013	0.0033	0.0069	0.0170	0.0002	0.0021	0.0136	0.0087	0.0071	0.0035	0.078	0.33923	T	0.011	0.64786	D	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.415	0.02918	N	2.3	0.16953	T	-1.8	0.42384	N	0.075	0.05287	-0.9479	0.41330	T	0.009	0.03271	T	9	0.0060515106	0.00136	T	.	.	.	0.050	0.13987	.	.	0.0401082797425	0.02173	.	.	0.0241402631145	0.02450	0.303737193346	0.10960	T	0.010907	0.09797	T	-0.738337	0.00021	T	-0.826807	0.01320	T	0.00472865501355915	0.00051	T	0.136386	0.01077	T	0.027148634	0.01866	0.08603125	0.19904	0.027148634	0.01866	0.08603125	0.19903	-1.614	0.02014	T	.	.	0.091	0.13080	B	.;.;.;.	.;.;.;.	-0.879671	0.00960	0.038	0.63319774181903199	0.07193	0.01812	0.05644	N	AEFBHCI	0.036465	0.04863	N	-2.01210049894588	0.00199	0.00853707	-2.10076132793371	0.00186	0.008175531	0.292126304102952	0.19098	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.54	-5.08	0.02708	-3.283000	0.00584	.	.	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.1916:0.6894:0.0:0.119	11.167	0.47773	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.000000	0.05263	7739.83	169	chr19	43966527	.	C	T	7739.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.565;DP=3498;ExcessHet=0.119;FS=4.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.716;SOR=0.47	GT:AD:DP:GQ:PL	0/1:150,144:294:99:4003,0,4392	17	0	2	0
chr19	44792407	44792407	A	G	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon6:c.A892G:p.M298V,CBLC:NM_012116:exon7:c.A1030G:p.M344V	.	420	1061	37	4	0	45	0.020766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	.	0.0066	0.0061901	0.0080	0.0013	0.0027	0	0.0032	0.0100	0.0077	0.0144	0.0078977	1221	154602	rs149074838	0.0083	0.0083	0.0080	0.0085	0.0208	0.0081	0.0081	0.0178	0.0167	0.0013	0.0034	0.0042	0	0.0031	0.0208	0.0089	0.0080	0.0130	0.0058	0.0058	0.0060	0.0056	0.0141	0.0055	0.0053	0.0114	0.0104	0.0016	0	0.0033	0.0052	0.0002	0.0029	0.0306	0.0090	0.0095	0.0141	0.012	0.54683	D	0.018	0.59732	D	0.889	0.57829	P	0.775	0.72001	P	0.001904	0.37691	N	0.114561	0.99944	0.51968	D	2.6	0.76081	M	-3.48	0.94584	D	-3.58	0.69118	D	0.462	0.49874	0.613	0.92069	D	0.794	0.93032	D	10	0.0088893175	0.00201	T	.	.	.	0.799	0.93425	.	.	0.929045453442	0.92831	0.3738723347436617	0.37301	0.326134606744	0.34764	0.467776715755	0.34374	T	0.726295	0.92304	D	-0.0719816	0.41010	T	0.134858	0.79210	D	0.0292411764619969	0.01874	T	0.680232	0.28883	T	0.28027663	0.51076	0.36654878	0.61982	0.28027663	0.51076	0.36654878	0.61981	-9.169	0.71653	D	.	.	0.204	0.42920	B	.;.;.	.;.;.	3.497206	0.48908	22.7	0.98907146019890746	0.48308	0.88917	0.49082	D	AEFDBHCIJ	0.855031	0.77211	D	0.605108900228125	0.73495	5.975778	0.539785417597971	0.70691	5.542364	0.999971891779467	0.50053	0.706548	0.73137	0	0.618376	0.53248	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	5.924000	0.69776	.	.	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.871	0.46088	616	0.66398	.;.;.	.	.	CEACAM19	Esophagus_Mucosa	.	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	0.016616	0.000000	0.014946	0.026316	0.000000	0.017241	0.030488	0.026515	0.02632	774.33	34	chr19	44792407	.	A	G	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=733;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-0.137;SOR=0.907	GT:AD:DP:GQ:PL	0/1:69,34:103:99:788,0,1832	18	0	1	0
chr19	46493659	46493659	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G1807A:p.A603T	.	422	1080	19	1	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00459265	0.0090	0	0.0045	0	0	0.0035	0.005	0.0207	0.0028201	436	154602	rs375877688	0.0027	0.0027	0.0022	0.0032	0.0186	0.0026	0.0026	0.0178	0.0175	0.0002	0.0011	0.0028	0	0.0001	0.0085	0.0018	0.0033	0.0186	0.0017	0.0017	0.0013	0.0020	0.0207	0.0015	0.0014	0.0174	0.0162	0.0002	0	0.0009	0.0026	0.0002	9.414e-05	0.0205	0.0017	0.0009	0.0207	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.01	0.21291	T	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.00285092	0.00045	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.051661787910480456	0.05108	.	.	0.592301189899	0.51819	T	.	.	.	-0.641604	0.00082	T	-0.679459	0.07016	T	.	.	.	0.340966	0.07383	T	0.02202339	0.00839	0.07431563	0.16243	0.02202339	0.00838	0.07431563	0.16243	-4.393	0.29462	T	.	.	0.097	0.15832	B	.	.	1.204061	0.15965	12.23	0.73959893321016346	0.10518	0.05151	0.10964	N	AEFDBCI	0.044160	0.07072	N	.	.	.	.	.	.	0.989751113103274	0.31925	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	1.99	0.886	0.18329	-0.507000	0.06434	0.319000	0.17164	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6824:0.3176:0.0	6.247	0.20030	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007748	0.000000	0.008197	0.003185	0.000000	0.000000	0.022013	0.011364	0.02632	815.33	40	chr19	46493659	.	C	T	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.484;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,40:91:99:829,0,1043	18	0	1	0
chr19	47780903	47780903	G	A	exonic	SELENOW	.	unknown	UNKNOWN	.	422	1099	1	0	0	1	0.000454752	.	.	.	2441929	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00886118630208	8.1e-05	.	1.756e-05	0	0	0.0001	0	0	0	6.413e-05	1.29e-05	2	154602	rs373200586	2.943e-05	3.01e-05	3.54e-05	2.339e-05	0.0002	2.217e-05	1.97e-05	2.456e-05	2.144e-05	2.987e-05	0	0	0	0	0.0002	3.328e-05	4.971e-05	1.16e-05	6.583e-06	6.568e-06	0	1.348e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	0.209	0.19710	T	0.438	0.13403	T	0.028	0.19712	B	0.024	0.20255	B	0.013926	0.28688	N	0.287341	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.25	0.31576	N	0.298	0.36254	-1.0481	0.14932	T	0.060	0.25163	T	9	0.17168984	0.31901	T	0.008861	0.23366	T	0.012	0.01476	.	.	0.201204373187	0.19734	.	.	0.0959462113283	0.10830	0.588201284409	0.51240	T	0.018266	0.17341	T	-0.407374	0.02069	T	-0.653813	0.08688	T	0.716437101364136	0.41519	D	0.579642	0.20943	T	0.023131583	0.01027	0.05285986	0.08793	0.023131583	0.01026	0.05285986	0.08792	.	.	.	.	.	0.104	0.19032	B	.;.;.;.;.	.;.;.;.;.	2.756009	0.36138	20.2	0.96441092303359	0.29830	0.36510	0.25549	N	AEFDBCI	0.479256	0.52148	N	-0.556085219433941	0.20293	1.068722	-0.530092364158346	0.21337	1.153811	0.999710784091377	0.42101	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	2.03	0.25714	1.452000	0.34767	5.098000	0.47411	-0.103000	0.15852	0.706000	0.28683	1.000000	0.68203	0.023000	0.12082	0.1077:0.1904:0.7019:0.0	6.127	0.19405	906	0.23090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2564.33	44	chr19	47780903	.	G	A	2564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=975;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.552;SOR=0.577	GT:AD:DP:GQ:PL	0/1:79,96:175:99:2578,0,1817	18	0	1	0
chr19	48375676	48375676	C	T	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon4:c.C395T:p.P132L	.	416	1097	9	0	0	9	0.00408534	.	.	.	2818523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0037	0.00319489	0.0062	0.0005	0.0027	0	0.0221	0.0069	0.0143	0.0062	0.0056338	871	154602	rs34058038	0.0058	0.0058	0.0057	0.0059	0.0061	0.0057	0.0057	0.0057	0.0055	0.0009	0.0021	0.0046	2.519e-05	0.0228	0.0043	0.0055	0.0054	0.0061	0.0050	0.0050	0.0038	0.0063	0.0053	0.0047	0.0046	0.0048	0.0046	0.0007	0.0318	0.0020	0.0040	0.0002	0.0261	0.0068	0.0053	0.0028	0.0041	0.197	0.20607	T	0.078	0.42261	T	0.806	0.45231	P	0.192	0.36449	B	0.102770	0.19778	N	0.565953	1	0.08975	N	1.59	0.40313	L	1.81	0.25182	T	-1.97	0.45587	N	0.285	0.33469	-1.0530	0.13574	T	0.034	0.14813	T	10	0.003685236	0.00068	T	.	.	.	0.064	0.18567	.	.	0.0611884634855	0.05136	0.39221288763361933	0.39136	0.085052402666	0.09612	0.202998846769	0.00549	T	0.004187	0.03601	T	-0.617613	0.00114	T	-0.65551	0.08573	T	0.010389981425285	0.00143	T	0.464054	0.25361	T	0.06791769	0.14750	0.061516482	0.11892	0.06791769	0.14750	0.061516482	0.11891	-3.607	0.17958	T	.	.	0.075	0.19357	B	.;.;.	.;.;.	1.581272	0.20234	14.65	0.81415119328436869	0.13674	0.10352	0.15882	N	AEFBI	0.078953	0.15938	N	-0.639732997772285	0.17760	0.9166018	-0.848024040145651	0.13335	0.6912044	2.21226211095294E-5	0.03498	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.15	-2.89	0.05326	0.015000	0.13250	0.039000	0.13841	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5395:0.3487:0.1119:0.0	9.703	0.39364	958	0.09170	Marvel domain|Marvel domain;Marvel domain;Marvel domain|Marvel domain	.	.	.	.	rs34058038	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2017.83	33	chr19	48375676	.	C	T	2017.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.58;DP=729;ExcessHet=0.119;FS=2.286;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.927	GT:AD:DP:GQ:PL	0/1:32,32:64:99:903,0,722	17	0	2	0
chr19	48376227	48376227	G	A	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon5:c.G614A:p.G205D	.	426	1091	5	0	0	5	0.00228624	.	.	.	2323472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00673333208439	7.7e-05	.	0.0001	0	0	0	0	7.495e-05	0	0.0007	0.00011	17	154602	rs376987626	5.609e-05	5.609e-05	5.173e-05	6.05e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0003	0	0	0	0	0	0.0009	3.597e-05	3.312e-05	0.0004	3.947e-05	3.941e-05	3.858e-05	4.041e-05	8.822e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.059	0.37536	T	0.1	0.38742	T	0.003	0.11197	B	0.005	0.11217	B	0.782057	0.06660	N	1.106500	1	0.08975	N	1.91	0.51138	L	0.66	0.52416	T	-0.82	0.22508	N	0.212	0.23632	-1.0248	0.22148	T	0.066	0.27364	T	10	0.0410825	0.02731	T	0.006733	0.17784	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.5637676839706233	0.56303	0.108005847181	0.12179	0.318521022797	0.13197	T	0.005058	0.04495	T	-0.415446	0.01830	T	-0.485105	0.23906	T	0.0256853442608764	0.01363	T	0.39716	0.10029	T	0.062384624	0.13023	0.0844063	0.19415	0.062384624	0.13023	0.0844063	0.19415	-3.393	0.14963	T	.	.	0.088	0.11606	B	.	.	0.883687	0.12567	9.098	0.74997127712640554	0.10906	0.04328	0.09886	N	AEFGBI	0.060576	0.11522	N	-1.14096661805891	0.05930	0.271654	-1.1409621818824	0.06932	0.3353432	4.41434649992815E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	-1.2	0.09062	0.379000	0.20315	2.532000	0.33172	-0.153000	0.12021	0.254000	0.24889	0.083000	0.22416	0.062000	0.16114	0.2434:0.2788:0.3348:0.1431	1.212	0.01790	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2866.33	34	chr19	48376227	.	G	A	2866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.366;SOR=0.721	GT:AD:DP:GQ:PL	0/1:73,110:183:99:2880,0,1772	18	0	1	0
chr19	49556409	49556409	G	A	exonic	NOSIP	.	nonsynonymous SNV	NOSIP:NM_001270960:exon8:c.C742T:p.L248F,NOSIP:NM_001363649:exon9:c.C751T:p.L251F,NOSIP:NM_015953:exon9:c.C742T:p.L248F	.	.	.	.	.	.	.	.	.	.	.	4000781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.210033157741	.	.	8.499e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs779054554	5.474e-06	5.472e-06	5.447e-06	5.502e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	3.312e-05	0	6.577e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.378	0.16425	T	0.321	0.33029	B	0.274	0.40037	B	0.035018	0.24698	N	0.354064	1	0.08975	N	1.935	0.51832	L	-2.09	0.86077	D	.	.	.	0.294	0.33360	-0.6414	0.63086	T	0.448	0.78366	T	10	0.15488729	0.29206	T	0.210033	0.87230	D	0.139	0.37390	0.326	0.30873	0.684844282287	0.68215	0.5634589924620937	0.56272	.	.	0.553073942661	0.46291	T	0.100683	0.44860	T	-0.0982105	0.36721	T	-0.248398	0.49974	T	0.0653002038598061	0.07975	T	0.968203	0.88468	D	0.093361825	0.21927	0.10333975	0.24791	0.093361825	0.21927	0.10333975	0.24791	-10.31	0.75746	D	.	.	0.283	0.51583	B	.;.	.;.	2.908408	0.38574	20.8	0.98359795035853759	0.40628	0.16957	0.19625	N	AEFDGBHCI	0.095251	0.19248	N	-0.670856339398229	0.16855	0.8624249	-0.692004715826194	0.17160	0.9112087	0.999999564414247	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.52208	0.10781	0	0.735409	0.98432	0	.	.	5.15	0.165	0.14282	0.620000	0.24097	2.339000	0.32242	0.676000	0.76740	0.110000	0.22992	1.000000	0.68203	0.885000	0.42453	0.0:0.2195:0.4505:0.33	9.449	0.37878	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	39	chr19	49556409	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=745;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.512;SOR=0.49	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1193,0,1197	18	0	1	0
chr19	49835773	49835773	C	T	exonic	MED25	.	nonsynonymous SNV	MED25:NM_001378355:exon16:c.C1793T:p.A598V,MED25:NM_030973:exon16:c.C1793T:p.A598V	Basel-Vanagait-Smirin-Yosef syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0392498693545	.	.	1.025e-05	0	0	0	0	1.883e-05	0	0	6.5e-06	1	154602	rs774013649	2.747e-06	2.737e-06	2.734e-06	2.761e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.706e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.217	0.26145	T	0.001	0.07471	B	0.001	0.04355	B	0.101470	0.19837	N	0.525934	0.998585	0.24109	N	0.205	0.09354	N	-1.15	0.77964	T	-0.68	0.21860	N	0.241	0.29197	-0.8136	0.54331	T	0.234	0.60087	T	10	0.09857613	0.17833	T	0.03925	0.58699	D	0.225	0.52323	0.14	0.04369	0.610832418033	0.60769	0.2990290897404058	0.29815	0.220290994	0.24570	0.517861604691	0.41325	T	0.089022	0.38283	T	-0.130713	0.31380	T	-0.425536	0.30444	T	0.184692817940899	0.19526	T	0.886711	0.61387	D	0.082288295	0.18948	0.09803377	0.23357	0.082288295	0.18948	0.09803377	0.23356	-4.053	0.24594	T	.	.	0.078	0.09336	B	.;.;.;.;.	.;.;.;.;.	3.505793	0.49069	22.7	0.99878487752229195	0.95491	0.83722	0.42821	D	AEFBI	0.122264	0.23732	N	-0.280668344382917	0.29894	1.661955	-0.102150547457091	0.35303	2.040866	0.00582898984164078	0.11053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.2	4.11	0.47350	1.271000	0.32700	5.799000	0.49924	0.549000	0.26987	0.752000	0.29155	1.000000	0.68203	0.877000	0.41881	0.0:0.9079:0.0:0.0921	12.837	0.57164	617	0.66297	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1181.33	34	chr19	49835773	.	C	T	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=723;ExcessHet=0;FS=2.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.081;SOR=1.063	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1195,0,736	18	0	1	0
chr19	49972640	49972640	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon7:c.T1307C:p.V436A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	.	7.393e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs780786407	4.036e-05	2.683e-05	4.296e-05	3.836e-05	0.0001	2.35e-05	1.833e-05	2.673e-05	1.99e-05	0.0001	3.605e-05	8.658e-05	0	0	0	5.265e-05	0	1.67e-05	3.944e-05	3.938e-05	2.572e-05	5.378e-05	5.884e-05	1.716e-05	1.13e-05	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0068	5.884e-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	.	.	.	.	.	.	.	.	0.02632	1253.33	40	chr19	49972640	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.218;SOR=0.721	GT:AD:DP:GQ:PL	0/1:98,53:151:99:1267,0,2595	18	0	1	0
chr19	50821809	50821809	G	A	exonic	KLK1	.	nonsynonymous SNV	KLK1:NM_002257:exon2:c.C109T:p.P37S	.	406	1111	5	0	0	5	0.00224517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	.	0.00339457	0.0018	0	0	0	0	4.533e-05	0.0011	0.0128	0.0015136	234	154602	rs199590344	0.0008	0.0008	0.0005	0.0011	0.0125	0.0008	0.0007	0.0119	0.0116	8.965e-05	2.237e-05	0	2.519e-05	0	0.0013	2.338e-05	0.0006	0.0125	0.0004	0.0004	0.0002	0.0007	0.0135	0.0003	0.0003	0.0108	0.0099	0	0	0	0	0	0	0	0	0	0.0135	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.245	0.89746	M	1.26	0.36330	T	-7.14	0.94073	D	0.707	0.71055	-0.3693	0.72983	T	0.272	0.64339	T	9	0.017119944	0.00364	T	.	.	.	0.315	0.63694	.	.	0.450733807028	0.44697	0.6879592657207306	0.68735	0.85370292488	0.68666	0.364720463753	0.20070	T	0.75438	0.93295	D	-0.34769	0.04874	T	-0.261821	0.48642	T	0.260695178403435	0.23345	T	0.954105	0.82551	D	0.9229943	0.93540	0.9080287	0.95548	0.9229943	0.93540	0.9080287	0.95549	-10.113	0.74586	D	.	.	0.853	0.79905	P	.	.	4.971620	0.82278	27.8	0.99871572018678301	0.94902	0.84668	0.43753	D	AEFDBI	0.311933	0.41752	N	0.457684260341481	0.64641	4.723226	0.267227424670053	0.53636	3.531539	0.999979353635457	0.50053	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.38	3.38	0.37806	5.786000	0.68654	9.523000	0.80936	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:0.0:1.0:0.0	13.033	0.58261	923	0.18507	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.001011	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.02632	1132.33	40	chr19	50821809	.	G	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=733;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.114;SOR=0.524	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1146,0,1271	18	0	1	0
chr19	51144564	51144564	C	T	exonic	SIGLEC7	.	nonsynonymous SNV	SIGLEC7:NM_014385:exon2:c.C592T:p.R198C	.	.	.	.	.	.	.	.	.	.	.	2375242	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00228904996972	0.0008	.	0.0003	9.641e-05	0.0002	0	0	0.0005	0.0011	0	0.0002199	34	154602	rs144612094	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0.0005	5.038e-05	1.879e-05	0	0.0003	0.0002	6.956e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	4.826e-05	0	0.0003	0.0009	0	0	0	0.0004	0	0	0.113	0.28772	T	0.175	0.29945	T	0.997	0.70673	D	0.726	0.55126	P	0.171557	0.03114	N	1.843930	1	0.08975	N	1.79	0.46772	L	4.09	0.02973	T	-3.74	0.71042	D	0.186	0.20262	-0.9909	0.32373	T	0.016	0.06521	T	10	0.108130485	0.20116	T	0.002289	0.04397	T	0.049	0.13647	.	.	0.218112801441	0.21410	0.1455444933447758	0.14477	0.531955723299	0.50672	0.209319114685	0.00783	T	0.197857	0.55466	T	-0.532161	0.00373	T	-0.678246	0.07091	T	0.089006261282577	0.11098	T	0.236476	0.03296	T	0.062415995	0.13033	0.06612035	0.13500	0.062415995	0.13032	0.06612035	0.13499	-8.267	0.62875	D	.	.	0.131	0.28290	B	.	.	1.857865	0.23599	16.08	0.9945359972133021	0.65427	0.00827	0.03334	N	AEFDGBI	0.071040	0.14126	N	-0.568642961364809	0.19902	1.045267	-0.874221114583482	0.12707	0.6551843	0.999970768494319	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.9	-3.32	0.04663	-0.523000	0.06316	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.359:0.1978:0.2582	0.579	0.00662	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1668.33	45	chr19	51144564	.	C	T	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=941;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.04;SOR=0.605	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1682,0,1514	18	0	1	0
chr19	53807516	53807516	T	C	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon4:c.A2225G:p.N742S,NLRP12:NM_001277129:exon4:c.A2222G:p.N741S,NLRP12:NM_144687:exon4:c.A2222G:p.N741S	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	772894	Autoinflammatory_syndrome|Familial_cold_autoinflammatory_syndrome_2	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0128197216963	.	0.000399361	0.0003	0	0.0002	0	0	1.55e-05	0	0.0020	0.0002393	37	154602	rs548804330	0.0001	0.0001	6.398e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	4.474e-05	0	0	0	0.0002	9.892e-06	0.0001	0.0019	7.88e-05	7.875e-05	2.571e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	2.406e-05	0	0	0	0	0	0	0	0	0.0023	0.349	0.17410	T	0.303	0.27414	T	0.005	0.12996	B	0.014	0.16862	B	0.027213	0.01663	N	2.724680	1	0.21986	N	1.77	0.45869	L	-3.06	0.92457	D	-0.57	0.37759	N	0.058	0.04790	-0.3617	0.73213	T	0.509	0.81556	D	10	0.011303276	0.00248	T	0.01282	0.31723	T	0.205	0.49236	0.352	0.35084	0.448891444097	0.44514	0.047051837726646784	0.04648	0.0465134043319	0.05060	0.259353369474	0.04814	T	0.058132	0.30758	T	-0.479353	0.00746	T	-0.480348	0.24409	T	0.0422124315923996	0.04094	T	0.10319	0.00767	T	0.025415117	0.01476	0.031840313	0.01830	0.027704377	0.02000	0.041314516	0.04667	-3.751	0.23338	T	.	.	0.061	0.01252	B	.;.;.;.;.	.;.;.;.;.	-0.874554	0.00969	0.038	0.461335618946209	0.03672	0.02117	0.06260	N	AEFDBI	0.050260	0.08767	N	-1.76368789764958	0.00640	0.02761351	-1.86539656562987	0.00572	0.02537091	0.272491422456362	0.18906	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.503917	0.08554	0	.	.	3.86	-7.72	0.01112	-0.717000	0.05088	.	.	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.264000	0.23619	0.0:0.3788:0.1163:0.505	7.358	0.25904	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1019.33	38	chr19	53807516	.	T	C	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=729;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.497;SOR=0.963	GT:AD:DP:GQ:PL	0/1:43,37:80:99:1033,0,1224	18	0	1	0
chr19	54255285	54255285	C	T	splicing	LILRB5	NM_006840:exon5:c.952+1G>A;NM_001081442:exon5:c.952+1G>A;NM_001081443:exon4:c.652+1G>A;NM_001304457:exon5:c.925+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001229	19	154602	rs539625340	5.683e-05	5.678e-05	3.27e-05	8.12e-05	0.0009	4.68e-05	4.305e-05	0.0008	0.0007	2.988e-05	0	0	0	0	0	0	3.315e-05	0.0009	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0947709	0.37290	T	0.04554	0.73290	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.797495	0.36791	20.3	0.98518068967490668	0.42434	0.50469	0.28670	D	AEFBI	.	.	.	0.708877960534863	0.80214	7.245105	0.449312393986542	0.64673	4.727928	2.77785661542616E-4	0.06300	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.219179	0.31299	2.78	2.78	0.31702	1.104000	0.30687	.	.	0.424000	0.20830	0.098000	0.22752	0.000000	0.08366	0.214000	0.22296	0.0:1.0:0.0:0.0	9.209	0.36468	994	0.00715	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1782.33	38	chr19	54255285	.	C	T	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.331;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=0;QD=17.47;ReadPosRankSum=-0.451;SOR=0.741	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1796,0,1453	18	0	1	0
chr19	54312622	54312622	C	A	splicing	LILRA5	NM_021250:exon2:c.4-1G>T;NM_181985:exon2:c.4-1G>T;NM_181879:exon2:c.4-1G>T;NM_181986:exon2:c.4-1G>T	.	.	.	.	.	.	.	.	.	.	0.9948	0.358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	1.533e-05	0	0.0013	0.0001488	23	154602	rs549778756	7.388e-05	7.388e-05	4.492e-05	0.0001	0.0011	6.248e-05	5.807e-05	0.0009	0.0009	0	0	0	0	0	0.0003	6.295e-06	3.312e-05	0.0011	3.282e-05	3.28e-05	0	6.712e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99988	0.19925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791631	0.00009	T	-0.945278	0.00277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.741221	0.22157	15.50	0.65432511055717513	0.07771	0.09518	0.15256	N	AEFDBCI	.	.	.	-0.26603216248412	0.30468	1.699205	-0.726794490234287	0.16294	0.8613353	0.999937536854262	0.46732	0.126639	0.03142	0	0.110986	0.03372	0	0.135981	0.03733	0	0.057018	0.00518	0	0.111083	0.23698	2.92	-3.93	0.03868	-0.039000	0.12076	.	.	0.484000	0.22197	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1887:0.3146:0.0:0.4966	3.422	0.06969	994	0.00715	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2091.33	34	chr19	54312622	.	C	A	2091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.774;SOR=0.659	GT:AD:DP:GQ:PL	0/1:85,78:163:99:2105,0,2342	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:450,97:547:99:1210,0,13808	8	0	11	0
chr19	54743887	54743887	T	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291696:exon3:c.T163A:p.Y55N,KIR2DS2:NM_001291695:exon4:c.T463A:p.Y155N,KIR2DS2:NM_001291701:exon4:c.T463A:p.Y155N,LOC102725023:NM_001360171:exon4:c.T463A:p.Y155N,KIR2DS2:NM_012312:exon4:c.T463A:p.Y155N,KIR2DS3:NM_012313:exon4:c.T463A:p.Y155N,KIR2DL1:NM_014218:exon4:c.T463A:p.Y155N,KIR2DL2:NM_014219:exon4:c.T463A:p.Y155N,KIR2DL3:NM_015868:exon4:c.T463A:p.Y155N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000889042019963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	2.15	0.60148	M	2.74	0.11730	T	-5.1	0.83027	D	0.222	0.24883	-1.0593	0.11931	T	0.074	0.29834	T	9	0.29892975	0.47448	T	8.89E-4	0.00822	T	0.027	0.05988	0.402	0.43245	0.542144099713	0.53867	0.041176315704600626	0.04062	4.31666214769	0.99941	.	.	.	0.018514	0.14910	T	-0.274912	0.11215	T	-0.632669	0.10213	T	0.839466571807861	0.49284	D	.	.	.	0.74634093	0.80657	0.5571823	0.74385	0.74634093	0.80658	0.5571823	0.74386	-11.174	0.80604	D	.	.	0.365	0.57542	A	.	.	2.335514	0.29927	18.28	0.96314295241925918	0.29393	0.00278	0.01504	N	AEFBI	0.027567	0.02277	N	-0.420351824209375	0.24757	1.33902	-0.757994396769074	0.15526	0.8169825	1.65261795707536E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.28	0.054	0.13623	0.385000	0.20413	.	.	0.539000	0.25131	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4595:0.0:0.0:0.5405	3.368	0.06789	964	0.07719	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	.	.	.	.	.	.	.	.	0.02632	166.33	262	chr19	54743887	.	T	A	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=3687;ExcessHet=0;FS=4.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.18;MQRankSum=-1.816;QD=0.55;ReadPosRankSum=-4.617;SOR=1.159	GT:AD:DP:GQ:PL	0/1:267,33:300:99:180,0,9083	18	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	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:196,114:310:99:2289,0,5884	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:254,98:352:99:2510,0,7142	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,91:352:99:0|1:54752445_C_T:3028,0,10604:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,61:334:99:0|1:54752482_T_C:1740,0,11210:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,39:301:99:0|1:54752511_G_A:849,0,10773:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,56:402:99:0|1:54760643_A_G:1276,0,14157:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,60:404:99:0|1:54760643_A_G:1484,0,14264:54760643	10	0	9	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	2922.43	425	chr19	54760659	.	G	A	2922.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.983;DP=3060;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=53.4;MQRankSum=-4.823;QD=2.4;ReadPosRankSum=0.781;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,64:408:99:0|1:54760643_A_G:1652,0,14252:54760643	15	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,66:398:99:0|1:54760643_A_G:1772,0,13742:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,66:382:99:0|1:54760643_A_G:1820,0,13070:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,66:375:99:0|1:54760643_A_G:1842,0,12697:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,66:368:99:0|1:54760643_A_G:1863,0,12403:54760643	10	0	9	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:478,35:513:31:0|1:54775425_A_G:31,0,19966:54775425	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,35:509:43:0|1:54775425_A_G:43,0,19796:54775425	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:475,40:515:99:0|1:54775425_A_G:162,0,19798:54775425	12	0	7	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	294.31	34	chr19	54804844	.	A	G	294.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.974;DP=1156;ExcessHet=0.119;FS=7.723;InbreedingCoeff=-0.048;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=-12.63;QD=0.78;ReadPosRankSum=-1.338;SOR=1.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,13:193:4:0|1:54804844_A_G:4,0,7489:54804844	17	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	309.6	34	chr19	54804865	.	G	T	309.6	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.98;DP=1250;ExcessHet=0.3672;FS=13.344;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=-13.59;QD=0.46;ReadPosRankSum=1.96;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,15:222:7:0|1:54804844_A_G:7,0,8647:54804844	16	0	3	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	282.3	34	chr19	54804871	.	A	G	282.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.557;DP=1266;ExcessHet=0.119;FS=13.375;InbreedingCoeff=-0.0475;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-13.86;QD=0.64;ReadPosRankSum=2.85;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,15:223:4:0|1:54804844_A_G:4,0,8689:54804844	17	0	2	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	34	chr19	54804880	.	G	T	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.06;DP=1855;ExcessHet=0.119;FS=15.691;InbreedingCoeff=-0.0552;MLEAC=2;MLEAF=0.053;MQ=58.82;MQRankSum=-14.28;QD=0.55;ReadPosRankSum=3.92;SOR=2.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,16:233:19:0|1:54804844_A_G:19,0,9064:54804844	17	0	2	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	267.83	34	chr19	54804889	.	A	C	267.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=1915;ExcessHet=0.119;FS=15.664;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-14.59;QD=0.55;ReadPosRankSum=3.3;SOR=2.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,18:248:63:0|1:54804844_A_G:63,0,9603:54804844	17	0	2	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	392.83	34	chr19	54804898	.	C	G	392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.04;DP=1941;ExcessHet=0.119;FS=15.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-14.93;QD=0.78;ReadPosRankSum=2.77;SOR=2.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,21:256:99:0|1:54804844_A_G:174,0,9804:54804844	17	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07895	831.79	34	chr19	54804909	.	A	G	831.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=1959;ExcessHet=0.3672;FS=14.196;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.65;MQRankSum=-15.14;QD=1.03;ReadPosRankSum=1.57;SOR=2.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,27:268:99:0|1:54804844_A_G:408,0,10038:54804844	16	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2377.43	34	chr19	54804943	.	G	A	2377.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.26;DP=2260;ExcessHet=0.7564;FS=9.528;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.51;MQRankSum=-15.36;QD=2.1;ReadPosRankSum=-3.066;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,46:284:99:0|1:54804844_A_G:1215,0,9855:54804844	15	0	4	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,51:294:99:0|1:54804844_A_G:1410,0,10050:54804844	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,51:297:99:0|1:54804844_A_G:1401,0,10176:54804844	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,57:292:99:0|1:54804844_A_G:1666,0,9678:54804844	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,58:295:99:0|1:54804844_A_G:1694,0,9718:54804844	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,84:328:99:0|1:54805010_A_G:2793,0,9931:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,85:328:99:0|1:54805010_A_G:2838,0,9906:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,93:334:99:0|1:54805010_A_G:3175,0,9819:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,100:336:99:0|1:54805010_A_G:3405,0,9452:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,118:331:99:0|1:54805068_A_G:4033,0,8334:54805068	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,64:313:99:0|1:54805940_TCTC_T:1938,0,10263:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,71:329:99:0|1:54805940_TCTC_T:2205,0,10620:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,93:355:99:0|1:54805940_TCTC_T:3116,0,10721:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,113:382:99:0|1:54805940_TCTC_T:3846,0,10935:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,151:457:99:0|1:54806034_C_A:5410,0,12343:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,151:460:99:0|1:54806034_C_A:5401,0,12469:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,147:481:99:0|1:54806034_C_A:5167,0,13582:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,134:488:99:0|1:54806034_C_A:4561,0,14461:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,131:484:99:0|1:54806034_C_A:4438,0,14428:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,133:484:99:0|1:54806034_C_A:4528,0,14338:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,117:458:99:0|1:54806034_C_A:3886,0,13966:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,115:459:99:0|1:54806034_C_A:3793,0,14098:54806034	13	0	6	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,27:348:99:0|1:54806034_C_A:167,0,13397:54806034	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,26:345:99:0|1:54806034_C_A:131,0,13316:54806034	13	0	6	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,114:406:99:0|1:54808838_C_T:3908,0,11874:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,125:430:99:0|1:54808838_C_T:4331,0,12420:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,123:425:99:0|1:54808838_C_T:4256,0,12300:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:315,142:457:99:4994,0,8483	10	0	9	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3464.37	500	chr19	54830166	.	G	C	3464.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.189;DP=4368;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.27;MQRankSum=-17.81;QD=2.01;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,46:327:99:0|1:54830134_C_T:1086,0,11661:54830134	14	0	5	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3568.37	500	chr19	54830177	.	C	T	3568.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.692;DP=4402;ExcessHet=1.3;FS=0.852;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.17;QD=2.02;ReadPosRankSum=1.52;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,48:331:99:0|1:54830134_C_T:1164,0,11739:54830134	14	0	5	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3559.37	500	chr19	54830178	.	G	C	3559.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.441;DP=4405;ExcessHet=1.3;FS=0.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.06;QD=2.02;ReadPosRankSum=1.69;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,48:332:99:0|1:54830134_C_T:1161,0,11781:54830134	14	0	5	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4015.37	500	chr19	54830217	.	T	C	4015.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.427;DP=4403;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.23;MQRankSum=-17.99;QD=2.27;ReadPosRankSum=4.03;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,49:320:99:0|1:54830134_C_T:1242,0,11232:54830134	14	0	5	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4012.37	500	chr19	54830219	.	T	A	4012.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.661;DP=4404;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.26;MQRankSum=-18.05;QD=2.27;ReadPosRankSum=3.57;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,49:322:99:0|1:54830134_C_T:1236,0,11316:54830134	14	0	5	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3932.37	500	chr19	54830226	.	C	T	3932.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.664;DP=4371;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.38;MQRankSum=-18.39;QD=2.27;ReadPosRankSum=2.58;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,49:317:99:0|1:54830134_C_T:1251,0,11106:54830134	14	0	5	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3561.33	500	chr19	54830252	.	TC	T	3561.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.511;DP=4224;ExcessHet=1.3;FS=0.843;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.3;MQRankSum=-15.73;QD=2.24;ReadPosRankSum=-1.435;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,45:294:99:0|1:54830134_C_T:1140,0,10320:54830134	14	0	5	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3423.33	500	chr19	54830255	.	AAAG	A	3423.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.433;DP=4210;ExcessHet=1.3;FS=0.838;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.32;MQRankSum=-15.59;QD=2.18;ReadPosRankSum=-1.73;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,45:289:99:0|1:54830134_C_T:1155,0,10110:54830134	14	0	5	0
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W,KIR2DS4:NM_001281972:exon2:c.T44G:p.L15W	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013975	0.015464	0.017857	0.020958	0.000000	0.026786	0.016234	0.012097	0.05263	451.83	84	chr19	54835088	.	T	G	451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.32;DP=1702;ExcessHet=0.119;FS=11.099;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.11;MQRankSum=-6.553;QD=1.55;ReadPosRankSum=-3.195;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,19:112:99:.:.:321,0,2488:.	17	0	2	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,76:370:99:0|1:54855608_TCTC_T:2306,0,12116:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,76:376:99:0|1:54855608_TCTC_T:2288,0,12332:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,49:395:99:0|1:54855666_CAG_C:981,0,14315:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,49:393:99:0|1:54855666_CAG_C:984,0,14276:54855666	13	0	6	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,117:314:99:0|1:54865794_T_C:4320,0,7920:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,116:307:99:0|1:54865794_T_C:4296,0,7671:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,116:311:99:0|1:54865794_T_C:4284,0,7839:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,112:302:99:0|1:54865794_T_C:4131,0,7641:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,103:291:99:0|1:54865794_T_C:3759,0,7584:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,104:292:99:0|1:54865794_T_C:3801,0,7581:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,84:263:99:0|1:54865794_T_C:2988,0,7263:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,84:261:99:0|1:54865794_T_C:2969,0,7173:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,83:255:99:0|1:54865794_T_C:2942,0,6945:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,51:286:99:0|1:54866416_T_C:1434,0,9691:54866416	12	0	7	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1677.93	40	chr19	54866533	.	A	T	1677.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.178;DP=3750;ExcessHet=0.7564;FS=36.09;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.13;MQRankSum=-22.23;QD=0.82;ReadPosRankSum=0.265;SOR=2.956	GT:AD:DP:GQ:PL	0/1:408,53:461:99:337,0,12120	14	0	4	1
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92:92:99:.:.:4118,280,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92:92:99:.:.:4118,280,0:.	0	15	4	0
chr19	55613895	55613900	TCCTCG	-	exonic	ZNF865	.	nonframeshift deletion	ZNF865:NM_001195605:exon2:c.277_282del:p.S116_S117del	.	349	1165	7	0	1	8	0.00299529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0058	0	0	0	0.0007	0	0.0009	7.68e-05	2	26028	rs762894169	0.0014	0.0013	0.0014	0.0014	0.0022	0.0013	0.0013	0.0018	0.0016	0.0013	0.0009	0.0004	0.0022	0.0001	0.0018	0.0014	0.0018	0.0013	0.0013	0.0013	0.0013	0.0013	0.0027	0.0011	0.0011	0.0017	0.0013	0.0015	0	0.0006	0.0003	0.0027	0.0003	0	0.0015	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1059.29	35	chr19	55613894	.	CTCCTCG	C	1059.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.93;DP=740;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.902;SOR=1.262	GT:AD:DP:GQ:PL	0/1:28,29:57:99:1073,0,1035	18	0	1	0
chr19	55622023	55622023	T	C	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.A700G:p.T234A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0313882239869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.688	0.05958	T	0.414	0.35185	B	0.161	0.34794	B	0.000724	0.42129	D	0.000000	1	0.81001	D	0.29	0.10111	N	3.21	0.07125	T	-2.47	0.53898	N	0.047	0.01911	-0.9192	0.45662	T	0.013	0.05081	T	10	0.11273566	0.21155	T	0.031388	0.53482	D	0.028	0.06331	0.305	0.27485	0.0611884634855	0.05136	0.16144037088370353	0.16065	1.46402968978	0.86419	0.808651208878	0.83286	D	0.091322	0.38770	T	-0.227925	0.16923	T	-0.565175	0.15894	T	0.709555208683014	0.41179	D	0.378962	0.09121	T	0.09621409	0.22659	0.10943055	0.26374	0.09621409	0.22658	0.10943055	0.26374	-5.397	0.40891	T	.	.	0.758	0.75412	P	.	.	3.651703	0.51831	23.2	0.99219921862292337	0.55870	0.39079	0.26132	N	AEFDBHCI	0.111321	0.22044	N	-0.51165640363641	0.21703	1.153691	-0.463722002399163	0.23160	1.261626	0.99804520461249	0.36353	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	3.48	2.45	0.28953	0.210000	0.17249	2.620000	0.33629	0.607000	0.46521	0.036000	0.20778	1.000000	0.68203	0.982000	0.59238	0.0:0.1002:0.0:0.8998	8.466	0.32117	911	0.21964	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	.	.	.	.	.	.	.	.	0.02632	678.33	36	chr19	55622023	.	T	C	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.035;DP=716;ExcessHet=0;FS=4.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.69;SOR=0.313	GT:AD:DP:GQ:PL	0/1:38,32:70:99:692,0,1114	18	0	1	0
chr19	55881565	55881565	C	A	exonic	NLRP4	.	nonsynonymous SNV	NLRP4:NM_134444:exon10:c.C2963A:p.T988K	.	.	.	.	.	.	.	.	.	.	.	4004217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0112993030675	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs777582848	7.715e-06	2.944e-05	4.2e-06	1.124e-05	9.264e-06	4.14e-06	3.03e-06	4.68e-06	3.42e-06	0	0	0	0	0	0	9.264e-06	1.691e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	-0.76	0.74689	T	0.17	0.05125	N	0.146	0.14763	-0.9977	0.30563	T	0.117	0.41320	T	9	0.0851998	0.14360	T	0.011299	0.28784	T	0.058	0.16647	0.47	0.54376	0.316198179892	0.31222	0.5052005209967927	0.50442	0.248531968292	0.27419	0.307821154594	0.11578	T	0.013139	0.11417	T	-0.138247	0.30169	T	-0.436359	0.29217	T	0.294310156085134	0.24769	T	0.390061	0.09662	T	0.09939201	0.23456	0.15555587	0.36459	0.09939201	0.23456	0.15555587	0.36458	-3.972	0.23383	T	.	.	0.122	0.25592	B	.;.	.;.	-0.051906	0.03937	0.876	0.72667472352351836	0.10053	0.00779	0.03201	N	AEFBI	0.032795	0.03771	N	-1.62217115341197	0.01158	0.05031711	-1.67289290467616	0.01262	0.0568966	6.74914561957801E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-3.13	0.04944	-0.819000	0.04569	-0.486000	0.08890	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4526:0.2626:0.2848:0.0	3.758	0.08119	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	37	chr19	55881565	.	C	A	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.945;SOR=0.705	GT:AD:DP:GQ:PL	0/1:22,27:49:99:823,0,571	18	0	1	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.02632	1726.33	147	chr19	56027647	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1704;ExcessHet=0;FS=9.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.849;SOR=0.904	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1740,0,1742	18	0	1	0
chr19	56823594	56823594	G	C	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon4:c.C480G:p.F160L,PEG3:NM_001146185:exon4:c.C102G:p.F34L,PEG3:NM_001146187:exon4:c.C102G:p.F34L,PEG3:NM_001369717:exon4:c.C480G:p.F160L,PEG3:NM_001369721:exon4:c.C102G:p.F34L,PEG3:NM_001369725:exon4:c.C102G:p.F34L,PEG3:NM_001369733:exon4:c.C102G:p.F34L,PEG3:NM_001369735:exon4:c.C102G:p.F34L,PEG3:NM_001369736:exon4:c.C102G:p.F34L,ZIM2:NM_001369772:exon4:c.C102G:p.F34L,ZIM2:NM_001369773:exon4:c.C102G:p.F34L,ZIM2:NM_001369774:exon4:c.C102G:p.F34L,ZIM2:NM_015363:exon4:c.C102G:p.F34L,ZIM2:NM_001146326:exon5:c.C102G:p.F34L,ZIM2:NM_001146327:exon5:c.C102G:p.F34L,PEG3:NM_001369718:exon5:c.C480G:p.F160L,PEG3:NM_001369719:exon5:c.C480G:p.F160L,PEG3:NM_001369722:exon5:c.C102G:p.F34L,PEG3:NM_001369727:exon5:c.C102G:p.F34L,PEG3:NM_001369729:exon5:c.C102G:p.F34L,PEG3:NM_001369730:exon5:c.C102G:p.F34L,PEG3:NM_001369732:exon5:c.C102G:p.F34L,PEG3:NM_001369734:exon5:c.C102G:p.F34L,PEG3:NM_001369737:exon5:c.C102G:p.F34L,PEG3:NM_001369739:exon5:c.C102G:p.F34L,ZIM2:NM_001369770:exon5:c.C102G:p.F34L,ZIM2:NM_001369771:exon5:c.C102G:p.F34L,PEG3:NM_006210:exon5:c.C480G:p.F160L,PEG3:NM_001369723:exon6:c.C102G:p.F34L,PEG3:NM_001369726:exon6:c.C102G:p.F34L,PEG3:NM_001369728:exon6:c.C102G:p.F34L,PEG3:NM_001369731:exon6:c.C102G:p.F34L,PEG3:NM_001369738:exon6:c.C102G:p.F34L,PEG3:NM_001369720:exon7:c.C102G:p.F34L,PEG3:NM_001369724:exon7:c.C102G:p.F34L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00386900735897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.0	0.92824	D	0.028	0.19712	B	0.01	0.14941	B	0.024541	0.26246	N	0.275691	.	.	.	1.445	0.36358	L	3.14	0.07920	T	-0.7	0.19933	N	0.289	0.33140	-0.9869	0.33371	T	0.012	0.04416	T	9	0.06813848	0.09594	T	0.003869	0.09086	T	0.043	0.11576	0.276	0.22845	0.0297737177859	0.01360	0.0014999135316746048	0.00138	0.0523284551214	0.05754	0.452203184366	0.32245	T	0.129825	0.45835	T	-0.238149	0.15586	T	-0.579861	0.14557	T	0.159759715199471	0.17854	T	0.532847	0.17735	T	0.054049272	0.12811	0.08230502	0.18774	0.054049272	0.12811	0.08230502	0.18773	-2.99	0.15917	T	.	.	0.833	0.81959	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.847433	0.12193	8.740	0.9914143449529037	0.53546	0.15594	0.18988	N	AEFBHCI	0.102805	0.20613	N	-0.982224295744142	0.08983	0.4233284	-0.972009136674972	0.10417	0.5245115	0.322177903739811	0.19395	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.29	2.1	0.26226	0.481000	0.21969	.	.	0.676000	0.76740	0.000000	0.06391	0.490000	0.25148	0.051000	0.15275	0.2099:0.0:0.7901:0.0	6.956	0.23754	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	34	chr19	56823594	.	G	C	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.463;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.255;SOR=0.638	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1591,0,2113	18	0	1	0
chr20	5955186	5955186	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon5:c.A421G:p.I141V,MCM8:NM_001281521:exon5:c.A421G:p.I141V,MCM8:NM_001281522:exon5:c.A421G:p.I141V,MCM8:NM_032485:exon5:c.A421G:p.I141V,MCM8:NM_182802:exon5:c.A421G:p.I141V	.	435	1077	10	0	0	10	0.00462107	.	.	.	728756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0008	0.00439297	0.0021	9.612e-05	0.0008	0.0068	0.0002	0.0013	0.0011	0.0059	0.0020892	323	154602	rs116926921	0.0014	0.0014	0.0013	0.0015	0.0072	0.0013	0.0013	0.0065	0.0062	0.0008	0.0008	0.0053	0.0072	9.361e-05	0.0031	0.0007	0.0026	0.0062	0.0013	0.0013	0.0011	0.0015	0.0079	0.0011	0.0011	0.0060	0.0053	0.0003	0	0.0010	0.0075	0.0079	0	0.0068	0.0009	0.0028	0.0070	0.173	0.28395	T	0.057	0.46406	T	0.0	0.02946	B	0.002	0.06944	B	0.001777	0.38052	N	0.322809	0.984105	0.24829	N	1.04	0.26193	L	2.78	0.11298	T	-0.77	0.22078	N	0.159	0.20262	-1.0392	0.17556	T	0.020	0.08546	T	10	0.0047038198	0.00099	T	.	.	.	0.036	0.09122	.	.	0.154104182512	0.14974	0.46859810290780074	0.46778	0.109795811323	0.12382	0.2617854774	0.05105	T	0.041653	0.25929	T	-0.613544	0.00120	T	-0.650364	0.08928	T	0.00195316512230435	0.00020	T	0.724128	0.33779	T	0.03678236	0.04591	0.046030555	0.06324	0.042884752	0.06586	0.04663645	0.06544	-3.664	0.21059	T	0.1408732256530989	0.15800	0.070	0.08176	B	.;.;.;.;.	.;.;.;.;.	1.038518	0.14191	10.77	0.87376897036475376	0.17183	0.69319	0.34141	D	AEFBI	0.089057	0.18051	N	-0.430951797694295	0.24390	1.316637	-0.373308461193209	0.25796	1.420813	0.992285742947323	0.32785	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	2.09	0.26154	0.105000	0.15169	3.014000	0.35974	0.756000	0.94297	0.863000	0.30666	1.000000	0.68203	0.942000	0.48361	0.7956:0.0:0.2044:0.0	9.333	0.37198	622	0.65860	.;.;.;.;.	.	.	.	.	.	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	0.006546	0.000000	0.001359	0.005848	0.000000	0.000000	0.015244	0.011364	0.02632	1266.33	33	chr20	5955186	.	A	G	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.14;SOR=0.629	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1280,0,893	18	0	1	0
chr20	20188042	20188042	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon14:c.G1498A:p.A500T	.	432	1088	2	0	0	2	0.000918274	.	.	.	2672893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0127685113135	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs139564644	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0028	1.674e-05	1.477e-05	0.0017	0.0014	0	0	0	0	0	0.0028	1.259e-05	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.168	0.30631	T	0.983	0.60381	D	0.808	0.58514	P	0.003145	0.35359	N	0.273612	1	0.81001	D	.	.	.	2.71	0.12055	T	-2.43	0.53258	N	0.176	0.18920	-1.1632	0.00682	T	0.060	0.25163	T	10	0.27590987	0.45152	T	0.012769	0.31631	T	0.130	0.35528	.	.	0.26547132957	0.26150	0.380457712279188	0.37960	0.455830224917	0.45249	.	.	.	0.211899	0.57279	T	-0.302772	0.08401	T	-0.491159	0.23270	T	0.511127173900604	0.33039	D	0.60234	0.22547	T	0.077568665	0.17613	0.14023213	0.33432	0.077568665	0.17613	0.14023213	0.33431	-6.01	0.46364	T	.	.	0.101	0.17530	B	.	.	2.335339	0.29919	18.28	0.98137687042089861	0.38572	0.89777	0.50463	D	AEFI	0.131130	0.24995	N	-0.150808827995899	0.35199	2.018853	-0.23922993559671	0.30143	1.694747	6.94261092015656E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	3.78	0.42629	1.555000	0.35884	3.825000	0.39969	-0.148000	0.12190	0.950000	0.33075	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.729:0.271	14.285	0.65794	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	744.33	34	chr20	20188042	.	G	A	744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.516;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.252;SOR=0.648	GT:AD:DP:GQ:PL	0/1:37,30:67:99:758,0,998	18	0	1	0
chr20	23749122	23749122	C	G	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon2:c.G236C:p.G79A	.	425	1070	26	0	1	27	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0102	0.00738818	0.0051	0.0220	0.0042	0	0	0.0049	0.0077	0.0005	0.0048059	743	154602	rs112232806	0.0039	0.0039	0.0039	0.0038	0.0290	0.0038	0.0037	0.0254	0.0240	0.0210	0.0053	0.0332	0.0003	9.36e-05	0.0290	0.0028	0.0084	0.0008	0.0088	0.0088	0.0089	0.0086	0.0206	0.0084	0.0082	0.0194	0.0190	0.0206	0	0.0061	0.0349	0.0004	0	0.0170	0.0034	0.0128	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.580686	0.11146	N	0.783801	1	0.08975	N	-2.255	0.00107	N	2.22	0.18248	T	1.8	0.00513	N	0.071	0.04426	-0.9832	0.34258	T	0.003	0.00929	T	10	0.005386919	0.00118	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.10927638088841515	0.10856	0.00328536659782	0.00279	0.500672876835	0.38922	T	0.005064	0.04495	T	-0.776028	0.00012	T	-0.87123	0.00731	T	0.00316472053368909	0.00033	T	0.0925907	0.00686	T	0.05093327	0.09278	0.036334567	0.03060	0.05093327	0.09277	0.036334567	0.03059	-0.572	0.00629	T	.	.	0.073	0.04806	B	.;.	.;.	-1.652648	0.00215	0.003	0.24474587781037138	0.01084	0.00065	0.00468	N	AEFDBHCI	0.009965	0.00064	N	-2.20452520438098	0.00075	0.003204316	-2.16687334230378	0.00133	0.005835719	0.0010579571319597	0.08170	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	1.72	-1.6	0.07977	-0.774000	0.04790	-0.811000	0.07334	-9.448000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1605:0.2346:0.3698:0.2351	0.849	0.01095	964	0.07719	Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin domain;Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin 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	.	.	.	.	.	.	.	.	0.05263	8780.83	39	chr20	23749122	.	C	G	8780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.559;DP=1493;ExcessHet=0.119;FS=1.752;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.2;MQRankSum=-0.363;QD=10.68;ReadPosRankSum=1.28;SOR=0.822	GT:AD:DP:GQ:PL	0/1:228,189:417:99:4551,0,6079	17	0	2	0
chr20	32434822	32434822	G	A	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.G1927A:p.G643R,ASXL1:NM_015338:exon12:c.G2110A:p.G704R	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1503	19	0	0	19	0.00628099	.	.	.	344999	not_provided|ASXL1-related_disorder|Bohring-Opitz_syndrome	MedGen:C3661900|.|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.126	0.0130423094044	0.0002	0.000399361	0.0008	0	0.0002	0	0	0.0005	0	0.0035	0.0006856	106	154602	rs151317625	0.0005	0.0005	0.0004	0.0006	0.0042	0.0004	0.0004	0.0029	0.0025	8.961e-05	0.0003	0.0011	5.038e-05	1.875e-05	0.0042	0.0003	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	7.218e-05	0	0.0003	0.0006	0	0	0.0068	0.0002	0.0009	0.0037	0.002	0.72154	D	0.015	0.61642	D	0.986	0.61523	D	0.64	0.52082	P	0.000100	0.51296	D	0.085622	0.899782	0.36144	D	2.47	0.71715	M	1.61	0.28391	T	-2.76	0.58569	D	0.252	0.46649	-0.8123	0.54411	T	0.136	0.45106	T	10	0.007665783	0.00174	T	0.013042	0.32127	T	0.126	0.34673	0.246	0.18139	0.629718971361	0.62669	0.45911666305360627	0.45829	0.310196105439	0.33336	0.349647283554	0.17870	T	0.383656	0.74546	T	-0.36963	0.03612	T	-0.306775	0.44004	T	0.0797073096036911	0.09948	T	0.810819	0.46223	T	0.18284968	0.39524	0.26537284	0.52369	0.22114433	0.44685	0.32455853	0.58378	-4.186	0.26548	T	.	.	0.111	0.21950	B	.;.;.;.;.	.;.;.;.;.	4.280674	0.65203	24.8	0.99860425141712195	0.93911	0.87754	0.47401	D	AEFDBCI	0.337956	0.43559	N	0.472652852221509	0.65499	4.830212	0.425473310125815	0.63158	4.54393	0.999999752869149	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.22	5.22	0.72285	4.533000	0.60328	8.738000	0.78198	0.676000	0.76740	0.823000	0.30032	1.000000	0.68203	0.624000	0.32000	0.0:0.0:1.0:0.0	17.53	0.87708	518	0.74548	.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2691.33	37	chr20	32434822	.	G	A	2691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.741;DP=845;ExcessHet=0;FS=3.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.272;SOR=0.908	GT:AD:DP:GQ:PL	0/1:110,98:208:99:2705,0,3012	18	0	1	0
chr20	32474718	32474718	C	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001256798:exon5:c.G724T:p.D242Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0350008667713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.998522	0.81001	D	.	.	.	.	.	.	-2.74	0.58248	D	0.572	0.59478	-0.1389	0.79192	T	0.410	0.75901	T	5	0.30635566	0.48146	T	0.035001	0.56052	D	0.277	0.59375	0.184	0.09259	0.256237801699	0.25221	0.6483650077683782	0.64772	.	.	.	.	.	0.084736	0.37344	T	0.0953478	0.63786	D	-0.100816	0.63336	T	0.96620762348175	0.67509	D	0.954805	0.82790	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.70317	P	.;.	.;.	5.313038	0.89189	29.9	0.99473159547588397	0.66472	0.93890	0.59488	D	ALL	0.792389	0.72070	D	0.43919058643481	0.63593	4.595985	0.506759261101608	0.68445	5.22085	0.999999999999988	0.74766	0.733237	0.96898	0	0.724815	0.89359	0	0.658105	0.52812	0	0.621717	0.48901	0	.	.	5.2	5.2	0.71720	6.756000	0.74715	7.684000	0.65448	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.727	0.88276	580	0.69689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	494.33	37	chr20	32474718	.	C	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=658;ExcessHet=0;FS=7.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.619;SOR=0.148	GT:AD:DP:GQ:PL	0/1:19,20:39:99:508,0,505	18	0	1	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.07895	4241.79	76	chr20	33083769	.	T	G	4241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.218;DP=1520;ExcessHet=0.3672;FS=5.007;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.021;SOR=0.486	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1334,0,1565	16	0	3	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:98,41:145:70:70,0,1842	2	0	17	0
chr20	35503696	35503696	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.G3431A:p.R1144Q,CEP250:NM_007186:exon30:c.G5327A:p.R1776Q	.	.	.	.	.	.	.	.	.	.	.	1946660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0327120170084	.	.	8.28e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs769073349	4.789e-06	4.788e-06	5.445e-06	4.125e-06	5.974e-05	1.99e-06	1.28e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	2.698e-06	0	1.159e-05	1.315e-05	1.313e-05	0	2.691e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.006	0.61437	D	0.151	0.32355	T	0.998	0.73220	D	0.875	0.62107	P	0.049788	0.23129	N	0.309792	1	0.08975	N	2.56	0.74772	M	2.52	0.54911	T	-1.17	0.29933	N	0.101	0.08366	-0.8576	0.51434	T	0.236	0.60343	T	10	0.10089037	0.18401	T	0.032712	0.54460	D	0.055	0.15663	0.145	0.04843	0.682685154404	0.67998	0.222547559851188	0.22169	0.177799176381	0.20007	0.243774175644	0.03140	T	0.02449	0.19081	T	-0.270556	0.11694	T	-0.529558	0.19330	T	0.425602406263351	0.29898	T	0.80142	0.45992	T	0.052631103	0.09844	0.056997746	0.10282	0.052631103	0.09844	0.056997746	0.10282	-5.787	0.44461	T	.	.	0.073	0.05623	B	.;.	.;.	2.984012	0.39815	21.0	0.99676431059806336	0.78977	0.38377	0.25974	N	AEFDGBI	0.055793	0.10261	N	-0.0261499856658901	0.40673	2.419517	-0.157011548851498	0.33140	1.89259	0.982502839926321	0.30408	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	0.48	0.16014	0.243000	0.17880	2.464000	0.32868	-0.106000	0.15538	0.000000	0.06391	1.000000	0.68203	0.882000	0.42233	0.5123:0.0:0.4877:0.0	8.023	0.29582	546	0.72524	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1408.33	40	chr20	35503696	.	G	A	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=800;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.66;SOR=0.941	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1422,0,1746	18	0	1	0
chr20	36030631	36030631	C	T	exonic	CNBD2	.	stopgain	CNBD2:NM_001365709:exon12:c.C1714T:p.R572X,CNBD2:NM_080834:exon12:c.C1702T:p.R568X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0.0001	0	1.501e-05	0	0	1.29e-05	2	154602	rs750499821	1.915e-05	1.915e-05	1.497e-05	2.338e-05	5.975e-05	1.328e-05	1.144e-05	1.213e-05	1.03e-05	5.975e-05	0	0	2.519e-05	0	0	1.888e-05	4.967e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.115374	0.19236	N	0.443048	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.201	0.22870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442198	0.92126	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.398792	0.97518	37	0.99341546123779623	0.60210	0.69490	0.34208	D	AEFBI	0.170916	0.29785	N	0.86128213457654	0.89741	10.09793	0.673339121030484	0.80361	7.281465	5.21672025081835E-4	0.07225	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.33	4.34	0.51267	2.032000	0.40747	1.587000	0.27508	0.599000	0.40250	0.998000	0.41325	0.253000	0.23932	0.776000	0.36750	0.1743:0.8257:0.0:0.0	11.844	0.51650	687	0.59234	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1066.33	38	chr20	36030631	.	C	T	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=735;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.784;SOR=0.486	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1080,0,1365	18	0	1	0
chr20	37944140	37944140	A	G	exonic	VSTM2L	.	nonsynonymous SNV	VSTM2L:NM_080607:exon4:c.A502G:p.N168D	.	397	1122	3	0	0	3	0.00133511	.	.	.	2211222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.0495875503187	0.0003	.	0.0005	0	0	0	0	0.0010	0	0	0.0003558	55	154602	rs139453151	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	2.994e-05	4.52e-05	0	0	5.7e-05	0.0002	0.0004	0.0004	2.342e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.421e-05	0	0	0	0	9.448e-05	0	0.0006	0.0005	0	0.52	0.07259	T	0.496	0.11335	T	0.011	0.15914	B	0.006	0.12133	B	0.114622	0.19267	N	0.562596	0.923804	0.28073	N	0.695	0.17993	N	1.91	0.23283	T	-0.29	0.11728	N	0.183	0.19861	-1.0296	0.20583	T	0.033	0.14247	T	10	0.024293453	0.00663	T	0.049588	0.63876	D	0.087	0.25287	.	.	0.0611884634855	0.05136	0.3288284102390065	0.32795	0.352414306319	0.37077	0.808484196663	0.83260	D	0.004623	0.04028	T	-0.401887	0.02250	T	-0.436789	0.29169	T	0.066443820513	0.08142	T	0.618838	0.23746	T	0.072459474	0.16121	0.06057784	0.11559	0.072459474	0.16121	0.06057784	0.11559	-2.956	0.09715	T	.	.	0.132	0.28464	B	.	.	3.942346	0.57693	23.9	0.9806585196753741	0.37983	0.45703	0.27597	N	AEFDGBCI	0.118768	0.23210	N	-0.356259185654908	0.27043	1.480623	-0.1654460694074	0.32818	1.870908	0.996118606479007	0.34533	0.696267	0.57585	0	0.610034	0.51514	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	4.64	4.64	0.57399	2.221000	0.42559	7.727000	0.67598	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8016:0.0:0.1984:0.0	5.264	0.14901	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003571	0.000000	0.004087	0.008824	0.050000	0.000000	0.003145	0.000000	0.02632	613.33	40	chr20	37944140	.	A	G	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.115;DP=738;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.9;SOR=0.446	GT:AD:DP:GQ:PL	0/1:21,24:45:99:627,0,534	18	0	1	0
chr20	38521530	38521530	G	A	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon10:c.G1451A:p.R484Q,RALGAPB:NM_001282918:exon10:c.G1451A:p.R484Q,RALGAPB:NM_020336:exon10:c.G1451A:p.R484Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.00581020271807	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs6100055	1.026e-05	1.094e-05	1.089e-05	9.626e-06	2.52e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	2.52e-05	0	0	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.122	0.40267	T	0.997	0.70673	D	0.964	0.71005	D	0.000000	0.84330	D	0.049758	1	0.81001	D	1.61	0.41143	L	.	.	.	-0.95	0.25332	N	0.641	0.74918	-0.5751	0.65811	T	0.381	0.73759	T	9	0.37909487	0.54058	T	0.00581	0.15101	T	0.319	0.64112	0.254	0.19378	0.448877186464	0.44507	0.6608265545645705	0.66019	0.968065256512	0.73262	0.593677639961	0.52013	T	0.050778	0.28692	T	0.255138	0.79078	D	0.128711	0.78807	D	0.718551756683899	0.41626	D	0.982235	0.93989	D	0.21713679	0.44190	0.18270262	0.41213	0.21713679	0.44190	0.18270262	0.41213	-8.87	0.66856	D	.	.	0.274	0.51695	B	.;.;.;.	.;.;.;.	5.146194	0.86174	28.8	0.99775684827039812	0.86346	0.99772	0.99355	D	AEFGBI	0.868297	0.78837	D	0.746714324832161	0.82689	7.825309	0.771522728484322	0.87752	9.332526	0.999999999999819	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	9.532000	0.97122	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.031	0.97535	832	0.38914	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1006.33	36	chr20	38521530	.	G	A	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=698;ExcessHet=0;FS=2.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.209;SOR=1.005	GT:AD:DP:GQ:PL	0/1:29,35:64:99:1020,0,673	18	0	1	0
chr20	50959845	50959845	C	-	exonic	MOCS3	.	frameshift deletion	MOCS3:NM_014484:exon1:c.1003delC:p.R335Vfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2371.29	38	chr20	50959844	.	GC	G	2371.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=794;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-2.113;SOR=0.633	GT:AD:DP:GQ:PL	0/1:66,70:136:99:2385,0,2254	18	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	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	0.944000	0.48669	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,9:48:7:0|1:51516833_C_G:7,0,1198:51516833	14	0	5	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,9:48:7:0|1:51516833_C_G:7,0,1198:51516833	4	0	11	4
chr20	56458589	56458589	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164115:exon5:c.C892T:p.R298C,CASS4:NM_001164114:exon6:c.C2041T:p.R681C,CASS4:NM_020356:exon6:c.C2203T:p.R735C,CASS4:NM_001164116:exon7:c.C2203T:p.R735C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00366478058822	0.0002	0.000199681	0.0002	0.0014	0	0	0	0.0001	0	0	0.0001617	25	154602	rs150842021	8.893e-05	8.961e-05	8.849e-05	8.939e-05	0.0019	7.622e-05	7.168e-05	0.0015	0.0014	0.0019	4.474e-05	0	0	0	0.0003	4.497e-05	0.0002	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0	0	0	0	0	0.0001	0	0	0.184	0.21634	T	0.388	0.19539	T	0.0	0.02946	B	0.001	0.04355	B	0.404720	0.13077	N	0.759553	1	0.08975	N	-0.955	0.01252	N	1.93	0.22881	T	0.85	0.01761	N	0.028	0.01004	-0.9718	0.36819	T	0.013	0.05225	T	10	0.0054938197	0.00121	T	0.003665	0.08433	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.09986393391688184	0.09917	.	.	0.195366024971	0.00335	T	0.008006	0.07373	T	-0.682634	0.00046	T	-0.772347	0.02692	T	0.0258917990547966	0.01391	T	0.810819	0.46223	T	0.04131973	0.06064	0.041950487	0.04884	0.04131973	0.06063	0.041950487	0.04884	-5.328	0.47639	T	.	.	0.082	0.16494	B	.;.	.;.	-0.119121	0.03530	0.672	0.88221580099739794	0.17809	0.05549	0.11445	N	AEFDGBCI	0.066427	0.13007	N	-1.82605686174107	0.00484	0.02085486	-1.85211958919255	0.00606	0.02693632	0.999999999682536	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.91	-9.85	0.00395	-2.441000	0.01091	-2.919000	0.03230	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.0858:0.5149:0.0877:0.3117	8.297	0.31156	987	0.02648	CAS family, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1661.33	33	chr20	56458589	.	C	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=2073;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.36;SOR=1.021	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1675,0,1514	18	0	1	0
chr20	62308735	62308735	G	A	exonic	ADRM1	.	nonsynonymous SNV	ADRM1:NM_001281437:exon9:c.G1081A:p.E361K,ADRM1:NM_001281438:exon9:c.G1081A:p.E361K,ADRM1:NM_007002:exon10:c.G1198A:p.E400K,ADRM1:NM_175573:exon10:c.G1198A:p.E400K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0253857402918	.	0.000399361	3.376e-05	0	8.746e-05	0.0002	0	0	0	6.083e-05	3.88e-05	6	154602	rs140787599	9.717e-06	9.657e-06	1.105e-05	8.367e-06	0.0002	5.64e-06	4.41e-06	0.0001	8.776e-05	0	4.491e-05	0	0.0002	0	0	9.142e-07	0	2.325e-05	3.961e-05	3.951e-05	2.581e-05	5.406e-05	0.0012	1.722e-05	1.134e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.042	0.41637	D	0.274	0.28300	T	0.763	0.43659	P	0.166	0.35067	B	0.000005	0.62929	D	0.140575	1	0.81001	D	.	.	.	.	.	.	-1.04	0.27259	N	0.469	0.51405	-0.9441	0.41960	T	0.100	0.37290	T	9	0.06895754	0.09826	T	0.025386	0.48361	D	0.170	0.43303	.	.	0.524456804389	0.52091	0.19640986101913974	0.19557	0.126043349698	0.14207	0.547479152679	0.45502	T	0.053731	0.29526	T	-0.143059	0.29405	T	-0.142947	0.59861	T	0.300437450408936	0.25022	T	0.955304	0.82980	D	0.2572614	0.48769	0.17864387	0.40548	0.2572614	0.48769	0.17864387	0.40547	-9.227	0.69146	D	.	.	0.172	0.45396	B	.;.;.	.;.;.	4.076293	0.60605	24.2	0.99897649499354313	0.97048	0.96760	0.70792	D	AEFDGBHCI	0.929240	0.91469	D	0.271320555128783	0.54701	3.63501	0.40577222864607	0.61922	4.399546	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	7.591000	0.81934	9.756000	0.81491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	19.506	0.95108	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1504.33	34	chr20	62308735	.	G	A	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.175;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.002;SOR=0.73	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1518,0,2072	18	0	1	0
chr20	62880996	62880996	G	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.C4960A:p.P1654T,DIDO1:NM_033081:exon16:c.C4960A:p.P1654T	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.0314847099188	7.9e-05	.	1.895e-05	0	0	0	0	3.506e-05	0	0	1.94e-05	3	154602	rs376034435	2.684e-05	2.941e-05	2.602e-05	2.766e-05	0.0003	2.009e-05	1.764e-05	6.098e-05	2.523e-05	0	0	0	0	2.143e-05	0.0003	2.07e-05	0.0001	6.969e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.146	0.32891	T	0.999	0.77913	D	0.945	0.68163	D	0.000644	0.42656	D	0.000000	0.925005	0.36792	D	1.7	0.43825	L	1.89	0.23688	T	-3.27	0.65512	D	0.622	0.79792	-0.9851	0.33808	T	0.120	0.42015	T	10	0.73066294	0.74276	D	0.031485	0.53558	D	0.335	0.65718	.	.	0.322865848456	0.31899	0.5757496820336998	0.57503	0.97207340511	0.73401	0.593065857887	0.51927	T	0.443621	0.78734	T	-0.102396	0.36026	T	-0.269907	0.47829	T	0.822670102119446	0.47971	D	0.584142	0.21248	T	0.30081534	0.52978	0.32292792	0.58229	0.30081534	0.52978	0.32292792	0.58228	-4.703	0.33441	T	.	.	0.351	0.56638	A	.;.	.;.	3.146962	0.42582	21.6	0.9861192134093788	0.43651	0.96229	0.68129	D	AEFDBCI	0.394229	0.47157	N	0.420893409116604	0.62572	4.475295	0.353984967360084	0.58746	4.047305	0.998278873007419	0.36679	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	6.035000	0.70582	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:1.0:0.0	18.970	0.92686	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	34	chr20	62880996	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=761;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.997;SOR=0.843	GT:AD:DP:GQ:PL	0/1:30,33:63:99:913,0,800	18	0	1	0
chr20	63564654	63564654	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C2461G:p.R821G,HELZ2:NM_001037335:exon9:c.C4168G:p.R1390G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0256137295217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	6.84e-07	0	1.427e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.996	0.77913	D	0.911	0.73362	D	0.025131	0.26142	N	0.403964	0.937636	0.26885	N	2.645	0.77386	M	1.08	0.39401	T	-5.62	0.86758	D	0.465	0.50146	-0.8971	0.48283	T	0.202	0.55905	T	10	0.74028164	0.74908	D	0.025614	0.48579	D	0.151	0.39764	0.735	0.86806	0.543952843248	0.54050	0.5526502314511533	0.55191	0.819905421968	0.67108	0.534562945366	0.43677	T	0.266773	0.63874	T	-0.0681965	0.41614	T	-0.335736	0.40826	T	0.899427533149719	0.55172	D	0.690631	0.30012	T	0.73660123	0.80098	0.66128784	0.80152	0.73660123	0.80100	0.66128784	0.80153	-7.327	0.57808	T	.	.	0.208	0.56599	B	.;.	.;.	2.929942	0.38926	20.8	0.99745460578897904	0.83852	0.39466	0.26219	N	AEFGBCI	0.160820	0.28680	N	0.183597347305235	0.50411	3.231388	0.0309064298193218	0.41158	2.46806	0.156819932240576	0.17530	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.84	2.71	0.31092	1.018000	0.29604	2.852000	0.35147	0.618000	0.50648	0.711000	0.28732	1.000000	0.68203	0.019000	0.11356	0.1064:0.0:0.4551:0.4384	5.813	0.17740	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3342.79	77	chr20	63564654	.	G	C	3342.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.431;DP=1086;ExcessHet=0.3672;FS=18.943;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.148;SOR=0.196	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1244,0,638	16	0	3	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	1/1:1,258:259:99:8460,735,0	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,224:224:99:6984,672,0	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	1/1:0,183:183:99:5202,549,0	3	5	11	0
chr21	14582274	14582274	C	A	exonic	SAMSN1	.	nonsynonymous SNV	SAMSN1:NM_001256370:exon2:c.G123T:p.K41N	.	429	1092	1	0	0	1	0.000457666	.	.	.	728832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0167431675301	.	0.00119808	0.0010	0	0.0034	0	0.0018	0.0019	0.0096	0	0.0004981	77	154602	rs151160030	0.0025	0.0024	0.0026	0.0024	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0015	0.0008	0	0.0021	0.0004	0.0029	0.0024	1.262e-05	0.0020	0.0020	0.0022	0.0018	0.0034	0.0018	0.0017	0.0030	0.0029	0.0006	0	0.0015	0.0003	0	0.0018	0	0.0034	0.0009	0	0.005	0.63226	D	0.035	0.52389	D	.	.	.	.	.	.	0.000620	0.42945	D	0.094278	0.998483	0.22124	N	.	.	.	0.66	0.52416	T	-0.59	0.17624	N	0.159	0.16586	-0.8810	0.49681	T	0.145	0.46859	T	9	0.002650708	0.00041	T	0.016743	0.38138	T	0.113	0.31778	0.348	0.34436	0.378498632473	0.37457	0.14273893426460046	0.14196	0.15952282972	0.17999	0.407473951578	0.26107	T	.	.	.	-0.568933	0.00225	T	-0.587675	0.13867	T	0.034609230686073	0.02742	T	0.743826	0.36376	T	.	.	.	.	.	.	.	.	-3.515	0.16642	T	.	.	0.326	0.54968	B	.;.	.;.	1.095811	0.14797	11.34	0.99297126645048617	0.58469	0.13744	0.18028	N	AEFGBHCIJ	0.078081	0.15746	N	-0.551235762199598	0.20445	1.077818	-0.71654607442744	0.16549	0.8759693	0.999999999998869	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	-1.42	0.08446	-0.095000	0.11043	-1.145000	0.06197	-0.182000	0.10109	0.007000	0.17678	0.000000	0.08366	0.951000	0.49849	0.0:0.4777:0.0:0.5223	11.04	0.47042	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1108.33	133	chr21	14582274	.	C	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=1952;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=3.06;SOR=0.978	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1122,0,1563	18	0	1	0
chr21	25911825	25911825	C	T	exonic	APP	.	nonsynonymous SNV	APP:NM_001136129:exon11:c.G1432A:p.V478M,APP:NM_001136131:exon12:c.G1495A:p.V499M,APP:NM_001204303:exon12:c.G1600A:p.V534M,APP:NM_201414:exon12:c.G1600A:p.V534M,APP:NM_001136016:exon13:c.G1753A:p.V585M,APP:NM_001136130:exon13:c.G1657A:p.V553M,APP:NM_001204302:exon13:c.G1768A:p.V590M,APP:NM_001385253:exon13:c.G1657A:p.V553M,APP:NM_201413:exon13:c.G1768A:p.V590M,APP:NM_000484:exon14:c.G1825A:p.V609M,APP:NM_001204301:exon14:c.G1825A:p.V609M	Alzheimer disease 1, familial, Autosomal dominant;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.103483295352	.	0.000199681	4.119e-05	0	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs541374184	1.094e-05	1.094e-05	1.497e-05	6.875e-06	6.708e-05	6.48e-06	5.24e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	3.744e-05	0	7.194e-06	0	3.478e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.535e-05	0	0.0002	0	0	0	0	0	0.092	0.34621	T	0.152	0.38016	T	0.999	0.90584	D	0.861	0.66904	P	0.006707	0.31850	N	0.334563	0.999367	0.51308	D	1.445	0.36358	L	-2.09	0.96402	D	-0.72	0.20358	N	0.599	0.62273	0.893	0.95580	D	0.853	0.95104	D	10	0.342636	0.51291	T	0.103483	0.77755	D	0.458	0.75619	0.269	0.21735	0.95445842456	0.95397	0.5015673640584759	0.50078	1.04960781204	0.76100	0.601649165154	0.53137	T	0.131562	0.46112	T	0.125733	0.66943	D	0.145484	0.79898	D	0.320696920156479	0.25850	T	0.953105	0.82105	D	0.09563979	0.22512	0.08255728	0.18852	0.09563979	0.22512	0.08255728	0.18852	-5.766	0.44277	T	0.14910333231880496	0.17409	0.100	0.16973	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.732234	0.53391	23.4	0.99860071404594697	0.93820	0.93707	0.58961	D	AEFBI	0.715359	0.66754	D	0.368689261692438	0.59733	4.155224	0.400695464230257	0.61608	4.363328	0.999999998487614	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.723	0.93126	0	.	.	4.61	4.61	0.56724	5.250000	0.65252	4.034000	0.41364	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.964000	0.52637	0.0:1.0:0.0:0.0	17.584	0.87875	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1627.33	33	chr21	25911825	.	C	T	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=742;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.172;SOR=0.591	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1641,0,1588	18	0	1	0
chr21	26468605	26468605	C	G	exonic	CYYR1	.	nonsynonymous SNV	CYYR1:NM_001320768:exon4:c.G364C:p.E122Q,CYYR1:NM_052954:exon4:c.G361C:p.E121Q	.	417	1098	2	0	5	7	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0248084669113	0.0005	0.000798722	0.0007	0	0.0003	0	0	0.0011	0	0.0002	0.0006533	101	154602	rs140249086	0.0009	0.0009	0.0009	0.0008	0.0016	0.0008	0.0008	0.0010	0.0010	5.986e-05	0.0006	0.0006	0	3.756e-05	0.0016	0.0010	0.0008	0.0001	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0010	0.0010	9.636e-05	0	0.0008	0.0020	0	9.463e-05	0	0.0013	0.0005	0	0.0	0.91255	D	0.067	0.44302	T	0.657	0.40850	P	0.229	0.38155	B	0.000000	0.84330	D	0.000000	0.983615	0.81001	D	1.1	0.28011	L	1.05	0.39990	T	-2.48	0.54059	N	0.448	0.48596	-0.7467	0.58107	T	0.215	0.57613	T	10	0.025733769	0.00759	T	0.024808	0.47795	T	0.170	0.43303	.	.	0.355242300401	0.35136	0.537518164338733	0.53676	0.326001465855	0.34754	0.537874102592	0.44145	T	0.090101	0.38513	T	-0.311541	0.07613	T	-0.276632	0.47148	T	0.122694671154022	0.14691	T	0.748325	0.36895	T	0.62720555	0.74149	0.4720059	0.69390	0.62720555	0.74150	0.4720059	0.69390	-2.181	0.03949	T	.	.	0.167	0.36772	B	.	.	4.183112	0.62987	24.5	0.9980737987371755	0.89174	0.85847	0.45027	D	AEFBI	0.501633	0.53439	D	0.344164117947522	0.58432	4.015418	0.293202052084367	0.55141	3.67754	0.999521191472815	0.40175	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	4.305000	0.58905	6.895000	0.56853	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	12.223	0.53759	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1981.83	35	chr21	26468605	.	C	G	1981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.45;DP=754;ExcessHet=0.119;FS=2.105;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.28;SOR=0.916	GT:AD:DP:GQ:PL	0/1:40,31:71:99:855,0,956	17	0	2	0
chr21	32748639	32748639	T	C	exonic	PAXBP1	.	nonsynonymous SNV	PAXBP1:NM_013329:exon11:c.A1783G:p.I595V,PAXBP1:NM_016631:exon11:c.A1783G:p.I595V	.	.	.	.	.	.	.	.	.	.	.	2769144	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0120056470163	.	.	4.146e-05	0	0	0	0	6.033e-05	0.0011	0	3.23e-05	5	154602	rs768182808	9.579e-06	9.577e-06	6.808e-06	1.238e-05	2.989e-05	5.56e-06	4.35e-06	2.62e-06	1.68e-06	2.989e-05	0	0	0	0	0	6.296e-06	9.937e-05	0	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.129	0.26852	T	0.346	0.17696	T	0.276	0.31942	B	0.159	0.34693	B	0.000001	0.62929	D	0.056955	0.999954	0.52396	D	1.48	0.37141	L	0.99	0.41750	T	-0.29	0.12283	N	0.406	0.45331	-1.0633	0.10950	T	0.083	0.32440	T	10	0.21647564	0.38232	T	0.012006	0.30193	T	0.102	0.29158	0.604	0.73586	0.262679179196	0.25893	0.13196170892258097	0.13121	0.887596563285	0.70075	0.429081380367	0.29083	T	0.050006	0.28472	T	-0.231366	0.16468	T	-0.38859	0.34716	T	0.085723914206028	0.10702	T	0.916008	0.70013	D	0.07050383	0.15535	0.101054825	0.24181	0.07050383	0.15535	0.101054825	0.24180	-4.298	0.28149	T	.	.	0.096	0.15251	B	.;.	.;.	2.976111	0.39681	21.0	0.98908781234330523	0.48327	0.95735	0.65931	D	AEFBI	0.485675	0.52516	N	-0.049547656126074	0.39622	2.339601	0.137009790720932	0.46457	2.891422	0.999988764097093	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.082000	0.64281	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.549	0.75871	940	0.13648	GC-rich sequence DNA-binding factor-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	34	chr21	32748639	.	T	C	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=708;ExcessHet=0;FS=2.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.875;SOR=0.439	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1013,0,1195	18	0	1	0
chr21	39196839	39196839	T	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon41:c.A6230C:p.Q2077P,BRWD1:NM_033656:exon41:c.A6230C:p.Q2077P	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0190029284877	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	6.058e-05	0.0001811	28	154602	rs144838294	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0005	0	0	0	0.0010	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.235e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0002	0.0019	0	0.003	0.68238	D	0.135	0.34124	T	0.0	0.02946	B	0.0	0.04355	B	0.327702	0.14166	N	0.676716	1	0.08975	N	2.85	0.82803	M	0.44	0.56609	T	-1.37	0.33998	N	0.183	0.20528	-0.9001	0.47983	T	0.160	0.49363	T	10	0.04953718	0.04557	T	0.019003	0.41240	T	0.076	0.22200	.	.	0.415459976574	0.41164	0.0758745302321441	0.07523	0.0749102724654	0.08402	0.290679633617	0.09021	T	0.080299	0.36329	T	-0.35861	0.04208	T	-0.430929	0.29830	T	0.0786790838149721	0.09817	T	0.754725	0.37732	T	0.15031837	0.34226	0.2584686	0.51579	0.15031837	0.34226	0.2584686	0.51578	-3.387	0.18132	T	.	.	0.080	0.21277	B	.;.;.	.;.;.	1.731946	0.22045	15.46	0.99217590166516567	0.55808	0.33722	0.24897	N	AEDBI	0.136086	0.25663	N	-0.512046261042049	0.21690	1.152918	-0.486816393272712	0.22517	1.223342	0.999999877529994	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.32	4.14	0.47821	1.566000	0.36005	-0.082000	0.12165	0.665000	0.62972	0.040000	0.20979	0.001000	0.17328	0.996000	0.76049	0.0:0.0:0.1427:0.8573	12.212	0.53694	958	0.09170	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	6226.81	35	chr21	39196839	.	T	G	6226.81	.	AC=2;AF=0.053;AN=38;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.12;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,188:188:99:6254,564,0	18	1	0	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,14:85:99:0|1:41918930_C_G:187,0,2841:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,14:85:99:0|1:41918930_C_G:187,0,2841:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,12:84:99:0|1:41918930_C_G:171,0,2853:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,12:83:99:0|1:41918930_C_G:174,0,2811:41918930	10	0	9	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	7112.35	76	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	7112.35	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.47;DP=1155;ExcessHet=0.0526;FS=1.3;InbreedingCoeff=0.3493;MLEAC=5;MLEAF=0.147;MQ=59.76;MQRankSum=0;QD=16.09;ReadPosRankSum=1.21;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,7:41:99:0|1:42137626_G_A:1331,1073,1206:42137626	12	0	5	2
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:1,244:390:99:11603,4615,3879	7	2	8	2
chr21	44637717	44637717	T	0	exonic	KRTAP10-10	.	.	.	.	433	876	177	15	21	228	0.105666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6951.77	438	chr21	44637717	.	T	*	6951.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.267;DP=6216;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.613;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,145:390:99:.:.:7736,232,0:.	12	2	3	2
chr21	44637718	44637718	G	0	exonic	KRTAP10-10	.	.	.	.	432	881	177	15	17	224	0.10513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6950.77	438	chr21	44637718	.	G	*	6950.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.891;DP=6220;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.794;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,145:390:99:.:.:7736,232,0:.	12	2	3	2
chr21	44637719	44637719	T	0	exonic	KRTAP10-10	.	.	.	.	1	177	5	0	43	48	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6948.77	438	chr21	44637719	.	T	*	6948.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.59;DP=6228;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.729;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,145:390:99:.:.:7736,232,0:.	12	2	3	2
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,68:158:99:.:.:1696,0,2382:.	2	12	5	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07895	4732.79	34	chr22	19180775	.	C	T	4732.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.822;DP=951;ExcessHet=0.3672;FS=11.777;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.24;SOR=0.623	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1384,0,1644	16	0	3	0
chr22	19435783	19435783	G	A	exonic	MRPL40	.	nonsynonymous SNV	MRPL40:NM_001318152:exon3:c.G310A:p.E104K,MRPL40:NM_001318151:exon4:c.G310A:p.E104K,MRPL40:NM_003776:exon4:c.G442A:p.E148K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00858920638093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.313	0.19539	T	0.007	0.14184	B	0.021	0.19346	B	0.815202	0.06851	N	1.079380	1	0.08975	N	1.1	0.28011	L	0.86	0.46777	T	-0.87	0.23590	N	0.166	0.17553	-1.0057	0.28247	T	0.083	0.32642	T	10	0.054730088	0.05873	T	0.008589	0.22705	T	0.041	0.10877	0.617	0.75116	0.194818534648	0.19098	0.3664042201280029	0.36554	0.092537156171	0.10449	0.244508743286	0.03211	T	0.003834	0.03242	T	-0.199245	0.20915	T	-0.523978	0.19892	T	0.0170061844989956	0.00449	T	0.849515	0.53247	T	0.046744958	0.07874	0.05455487	0.09404	0.046744958	0.07874	0.05455487	0.09404	-3.194	0.12407	T	.	.	0.058	0.00647	B	.	.	0.727025	0.10963	7.626	0.59661392279079284	0.06277	0.12573	0.17351	N	AEFDBCI	0.226502	0.35044	N	-1.29845882271096	0.03695	0.1654994	-1.33605553545848	0.03972	0.1864408	0.999850189095127	0.44174	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.35	-3.0	0.05148	0.498000	0.22238	0.953000	0.22937	-0.227000	0.07798	0.012000	0.18695	0.946000	0.28899	0.282000	0.24066	0.1748:0.3702:0.3856:0.0693	6.166	0.19606	518	0.74548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2237.33	40	chr22	19435783	.	G	A	2237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-2.413;SOR=0.724	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2251,0,1745	18	0	1	0
chr22	21026491	21026491	C	T	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001349876:exon11:c.C734T:p.P245L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.757e-05	0	0	0	0	3.207e-05	0	0	6.5e-06	1	154602	rs767835576	2.764e-05	3.078e-05	2.607e-05	2.923e-05	3.606e-05	2.083e-05	1.834e-05	2.213e-05	1.953e-05	3.021e-05	0	0	0	0	0	3.075e-05	3.342e-05	3.606e-05	1.315e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	34	chr22	21026491	.	C	T	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.52;SOR=0.693	GT:AD:DP:GQ:PL	0/1:80,76:156:99:2037,0,1935	18	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:19,2:21:19:19,0,475	5	0	13	1
chr22	26311843	26311843	T	C	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184774:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184775:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184776:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184777:exon8:c.T1757C:p.I586T,SEZ6L:NM_021115:exon8:c.T1757C:p.I586T	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	.	0.00259585	0.0011	0.0003	0	0	0	7.498e-05	0	0.0075	0.0009767	151	154602	rs201588335	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0004	0.0065	0.0063	5.974e-05	2.236e-05	0	0	0.0001	0.0005	5.126e-05	0.0006	0.0069	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	5.882e-05	0	0.0079	0.073	0.39820	T	0.076	0.49120	T	0.837	0.60381	P	0.52	0.55692	P	0.007797	0.31194	N	0.210137	0.999221	0.46379	D	1.495	0.37439	L	-0.15	0.65192	T	-1.62	0.40660	N	0.526	0.57860	-0.6302	0.63562	T	0.245	0.61354	T	10	0.019358933	0.00431	T	.	.	.	0.262	0.57482	0.752	0.88237	0.176862962021	0.17281	0.6075284372550219	0.60684	1.3017217979	0.83030	0.632603168488	0.57514	T	0.01976	0.41407	T	-0.347716	0.04873	T	-0.268101	0.48011	T	0.0597163625644882	0.07123	T	0.836816	0.50885	T	0.11101968	0.26238	0.14594528	0.34595	0.11101968	0.26238	0.14594528	0.34594	-10.953	0.79839	D	.	.	0.083	0.26886	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.720193	0.75923	26.4	0.99793903392947214	0.87928	0.95446	0.64753	D	AEFBI	0.658558	0.62979	D	0.311294351794532	0.56728	3.838003	0.346625049102507	0.58304	4.000246	0.999946631001139	0.47345	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	5.769000	0.68518	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	13.734	0.62291	933	0.16026	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	33	chr22	26311843	.	T	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.634;SOR=0.637	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1063,0,1070	18	0	1	0
chr22	31138294	31138294	G	A	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon3:c.C764T:p.A255V	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00651682838177	0.0068	0.00319489	0.0056	0.0014	0.0021	0	0.0024	0.0081	0.0023	0.0046	0.0059184	915	154602	rs2232177	0.0078	0.0078	0.0080	0.0075	0.0092	0.0076	0.0076	0.0090	0.0090	0.0012	0.0021	0.0010	5.038e-05	0.0026	0.0009	0.0092	0.0067	0.0048	0.0058	0.0058	0.0061	0.0055	0.0100	0.0055	0.0054	0.0094	0.0092	0.0015	0	0.0046	0.0020	0.0004	0.0032	0.0034	0.0100	0.0043	0.0041	0.045	0.40832	D	0.05	0.48080	T	0.955	0.54515	P	0.207	0.37187	B	0.075601	0.21214	N	0.517109	0.786953	0.29269	N	1.445	0.36358	L	1.52	0.30669	T	-1.44	0.35399	N	0.155	0.16028	-1.0128	0.26038	T	0.034	0.14726	T	10	0.007147819	0.00162	T	0.006517	0.17186	T	0.086	0.25016	.	.	0.402755899245	0.39889	0.5308558618046946	0.53009	0.0701697219036	0.07856	0.32299259305	0.13875	T	0.060158	0.31311	T	-0.594545	0.00157	T	-0.613826	0.11677	T	0.0244192230305814	0.01198	T	0.673133	0.28166	T	0.06705507	0.14487	0.08862533	0.20676	0.06705507	0.14486	0.08862533	0.20676	-2.169	0.03892	T	.	.	0.134	0.29172	B	.	.	2.326465	0.29799	18.24	0.99766298073616921	0.85500	0.54839	0.29715	D	AEFDGBI	0.298124	0.40753	N	-0.158912706399447	0.34856	1.994954	-0.222344496598955	0.30737	1.733233	0.999773503619151	0.42865	0.645754	0.44609	0	0.547309	0.14657	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.4	-2.0	0.07024	0.231000	0.17651	0.599000	0.19904	0.676000	0.76740	0.002000	0.15269	0.108000	0.22760	0.999000	0.91618	0.0715:0.0881:0.1761:0.6643	6.978	0.23866	624	0.65661	.	.	.	.	.	rs2232177	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	4222.83	45	chr22	31138294	.	G	A	4222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=999;ExcessHet=0.119;FS=8.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.47;SOR=1.086	GT:AD:DP:GQ:PL	0/1:79,82:161:99:2100,0,1831	17	0	2	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	539.79	37	chr22	36316560	.	G	C	539.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.145;DP=1446;ExcessHet=0.3672;FS=307.401;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.02;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,25:101:99:0|1:36316559_G_T:195,0,2794:36316559	16	0	3	0
chr22	37713346	37713346	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon5:c.G391A:p.G131S	Deafness, autosomal recessive 28, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	53019	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0049	0.00299521	0.0047	0.0013	0.0023	0	0.0003	0.0072	0.0033	0.0022	0.0045601	705	154602	rs144634857	0.0052	0.0052	0.0051	0.0053	0.0291	0.0051	0.0050	0.0255	0.0242	0.0015	0.0034	0.0277	5.038e-05	0.0003	0.0291	0.0053	0.0061	0.0024	0.0046	0.0046	0.0046	0.0045	0.0071	0.0043	0.0042	0.0060	0.0056	0.0009	0.0548	0.0071	0.0254	0.0002	9.434e-05	0.0137	0.0055	0.0062	0.0031	0.421	0.09806	T	0.74	0.04982	T	0.066	0.23586	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.0	0.21473	T	0.21	0.04776	N	0.142	0.14196	-1.0020	0.29342	T	0.020	0.08453	T	9	0.0030972362	0.00051	T	.	.	.	0.052	0.14661	.	.	0.139678290688	0.13603	0.06387593807253937	0.06326	0.115210398567	0.12999	0.240315154195	0.02819	T	0.011006	0.09875	T	-0.662728	0.00060	T	-0.722128	0.04694	T	0.00037377022165025	0.00003	T	0.320668	0.06474	T	0.01437947	0.00091	0.03935685	0.04010	0.014525475	0.00097	0.044263344	0.05697	-3.516	0.16657	T	.	.	0.083	0.09143	B	.;.	.;.	0.046857	0.04616	1.282	0.88336276201371966	0.17897	0.00904	0.03537	N	AEFDBI	0.027802	0.02336	N	-1.33806225441425	0.03250	0.1448681	-1.4064561002538	0.03187	0.1481455	0.0416091776877352	0.14491	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.84	-4.59	0.03158	-0.333000	0.07938	-0.436000	0.09190	-1.875000	0.00548	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7062:0.0:0.2938:0.0	11.702	0.50839	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030211	0.035354	0.020380	0.064327	0.000000	0.051724	0.021341	0.011364	0.05263	1447.83	36	chr22	37713346	.	G	A	1447.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.79;DP=733;ExcessHet=0.119;FS=1.313;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.07;SOR=0.574	GT:AD:DP:GQ:PL	0/1:40,35:75:99:756,0,954	17	0	2	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	3393.89	35	chr22	42128812	.	A	G	3393.89	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.086;DP=2055;ExcessHet=2.1469;FS=9.869;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.167;MQ=52.6;MQRankSum=-7.41;QD=2.56;ReadPosRankSum=-3.691;SOR=2.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,13:163:94:0|1:42128812_A_G:94,0,6249:42128812	12	0	6	1
chr22	42571202	42571205	AAGT	-	exonic	SERHL2	.	frameshift deletion	SERHL2:NM_001284334:exon8:c.538_539del:p.K180Sfs*7,SERHL2:NM_014509:exon10:c.730_731del:p.K244Sfs*7	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0027	0.0003	0.0007	0	0.0017	0.0039	0.0022	0.0024	0.000461	12	26028	rs566977033	0.0030	0.0030	0.0030	0.0031	0.0031	0.0030	0.0029	0.0030	0.0030	0.0004	0.0006	0.0132	0.0005	0.0016	0.0012	0.0031	0.0035	0.0027	0.0026	0.0026	0.0028	0.0023	0.0039	0.0023	0.0023	0.0035	0.0034	0.0004	0	0.0003	0.0190	0	0.0010	0.0068	0.0039	0.0028	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2061.29	33	chr22	42571201	.	CAAGT	C	2061.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.359;DP=761;ExcessHet=0;FS=2.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=-5.181;QD=15.74;ReadPosRankSum=-1.521;SOR=0.935	GT:AD:DP:GQ:PL	0/1:75,56:131:99:2075,0,2981	18	0	1	0
chr22	43124077	43124077	G	A	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.G55A:p.E19K	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00339457	0.0019	9.61e-05	8.637e-05	0.0001	0	2.997e-05	0.0022	0.0134	0.0016559	256	154602	rs4988415	0.0008	0.0008	0.0004	0.0011	0.0123	0.0007	0.0007	0.0117	0.0114	2.987e-05	0	0.0003	2.519e-05	0	0.0002	8.093e-06	0.0010	0.0123	0.0005	0.0005	0.0002	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.406e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0145	0.048	0.40068	D	0.195	0.28032	T	0.901	0.49677	P	0.549	0.49194	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.74	0.26301	T	-2.68	0.57275	D	0.184	0.19995	-1.0709	0.09216	T	0.050	0.21104	T	9	0.0045650303	0.00095	T	.	.	.	0.050	0.13987	.	.	0.39162414616	0.38777	0.19947998921342414	0.19864	0.0870314921801	0.09816	0.295571267605	0.09743	T	0.213235	0.57450	T	-0.553807	0.00277	T	-0.556606	0.16698	T	0.0912026335807295	0.11360	T	0.60194	0.22516	T	0.17415453	0.38203	0.1357998	0.32505	0.17415453	0.38203	0.1357998	0.32504	-4.878	0.35487	T	.	.	0.236	0.46949	B	.	.	2.232654	0.28505	17.82	0.9966511812972626	0.78202	0.03626	0.08868	N	AEFBI	0.027513	0.02260	N	-0.45505407102697	0.23569	1.266602	-0.61187862631814	0.19188	1.028375	0.993987325381834	0.33438	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.18	1.97	0.25278	0.549000	0.23037	2.388000	0.32524	0.676000	0.76740	0.022000	0.19841	0.986000	0.30841	0.023000	0.12082	0.1213:0.21:0.6687:0.0	5.165	0.14410	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1522.33	33	chr22	43124077	.	G	A	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.257;SOR=0.69	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1536,0,1324	18	0	1	0
chr22	43530868	43530868	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon29:c.A3874G:p.K1292E,EFCAB6:NM_022785:exon31:c.A4330G:p.K1444E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0352526808773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.017	0.51853	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.003684	0.34611	N	0.190179	0.677254	0.34754	D	1.91	0.51138	L	-0.61	0.71779	T	-2.76	0.59545	D	0.685	0.78356	-0.3590	0.73293	T	0.410	0.75852	T	10	0.7961842	0.79091	D	0.035253	0.56225	D	0.420	0.72930	0.47	0.54376	0.83388813364	0.83230	0.3985054516633523	0.39765	0.405051829818	0.41395	0.664059758186	0.61989	T	0.010422	0.09410	T	0.0486988	0.58175	T	-0.167824	0.57642	T	0.959803223609924	0.65632	D	0.743426	0.36288	T	0.2856542	0.51585	0.320718	0.58025	0.2856542	0.51585	0.320718	0.58024	-9.033	0.67910	D	.	.	0.906	0.87462	P	.;.	.;.	3.780754	0.54354	23.5	0.99862963921158521	0.94093	0.88713	0.48773	D	AEFBI	0.623673	0.60753	D	0.41160925911618	0.62058	4.415872	0.362965235451947	0.59294	4.105826	0.999998274457692	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	4.312000	0.58946	7.560000	0.60459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.0:1.0	12.294	0.54153	846	0.36215	.;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	.	.	.	.	.	.	.	.	0.02632	946.33	33	chr22	43530868	.	T	C	946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.838;DP=720;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.97;SOR=0.586	GT:AD:DP:GQ:PL	0/1:37,42:79:99:960,0,981	18	0	1	0
chr22	43782248	43782248	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon3:c.G71A:p.R24K	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00658588574056	0.0002	0.000998403	0.0003	0	0.0003	0	0	0.0001	0	0.0018	0.0003105	48	154602	rs147913121	0.0001	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	0	0.0002	0	0	0	0.0014	3.058e-05	0.0002	0.0018	0.0002	0.0002	0.0002	9.402e-05	0.0023	0.0001	9.235e-05	0.0013	0.0010	0	0	6.533e-05	0	0	0	0	0.0002	0.0005	0.0023	0.0	0.91255	D	0.156	0.31833	T	0.999	0.77913	D	0.987	0.77487	D	0.000908	0.41128	D	0.000000	1	0.81001	D	2.505	0.72935	M	1.96	0.22270	T	-1.08	0.28084	N	0.38	0.42149	-1.0739	0.08577	T	0.111	0.39959	T	10	0.01578343	0.00331	T	0.006586	0.17358	T	0.137	0.36984	.	.	0.525817377317	0.52229	0.60197316063942	0.60128	0.352897923945	0.37108	0.330085426569	0.14947	T	0.008887	0.08127	T	-0.407848	0.02054	T	-0.365886	0.37369	T	0.0761887535065553	0.09493	T	0.521048	0.16963	T	0.35144922	0.57180	0.34374264	0.60081	0.35144922	0.57180	0.34374264	0.60081	-4.092	0.25172	T	.	.	0.235	0.46813	B	.	.	3.682844	0.52433	23.2	0.99554653389989267	0.71397	0.45288	0.27505	N	AEFBI	0.100376	0.20184	N	0.32454447733443	0.57411	3.908305	0.227103911491752	0.51356	3.318896	0.0716630719760237	0.15575	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	1.891000	0.39372	4.322000	0.43001	0.599000	0.40250	0.885000	0.31090	0.998000	0.33993	0.802000	0.37819	0.0:1.0:0.0:0.0	12.841	0.57185	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1397.33	42	chr22	43782248	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=794;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.549;SOR=0.826	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1411,0,1766	18	0	1	0
chr22	44193820	44193820	C	T	exonic	PARVG	.	nonsynonymous SNV	PARVG:NM_001137605:exon9:c.C580T:p.P194S,PARVG:NM_022141:exon9:c.C580T:p.P194S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0104041343024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.64	0.06970	T	0.001	0.07471	B	0.001	0.04355	B	0.578524	0.05522	N	1.305430	1	0.08975	N	-0.51	0.02586	N	-0.97	0.75670	T	1.04	0.01332	N	0.033	0.00882	-1.0569	0.12543	T	0.101	0.37543	T	10	0.03863609	0.02295	T	0.010404	0.26893	T	0.087	0.25287	0.207	0.12356	0.237489013734	0.23353	0.08706746179150747	0.08640	0.15112848726	0.17061	0.249752491713	0.03741	T	0.062939	0.32047	T	-0.247806	0.14369	T	-0.593732	0.13344	T	0.0543712898033456	0.06252	T	0.522448	0.17034	T	0.025811758	0.01561	0.0269177	0.00809	0.025811758	0.01561	0.0269177	0.00809	-4.357	0.28968	T	.	.	0.069	0.03372	B	.;.	.;.	-1.567489	0.00257	0.004	0.34735495764594559	0.02141	0.00419	0.02071	N	AEFDGBHCI	0.028595	0.02547	N	-1.72101771958681	0.00770	0.03325292	-1.76001095577003	0.00896	0.04006642	0.999999999628183	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.15	-4.43	0.03319	-3.213000	0.00614	-4.100000	0.02342	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1996:0.315:0.1655:0.3199	0.542	0.00604	844	0.36711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	33	chr22	44193820	.	C	T	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=790;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.202;SOR=0.569	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1919,0,1953	18	0	1	0
chr22	50149653	50149653	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164106:exon2:c.G47A:p.G16E,MOV10L1:NM_001164104:exon20:c.G2666A:p.G889E,MOV10L1:NM_001164105:exon20:c.G2606A:p.G869E,MOV10L1:NM_018995:exon20:c.G2666A:p.G889E	.	422	1097	3	0	0	3	0.0013655	.	.	.	2269795	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.759	0.163188706931	.	.	5.009e-05	0	0	0	0	3.029e-05	0.0011	0.0002	3.88e-05	6	154602	rs763186580	2.531e-05	2.531e-05	1.497e-05	3.575e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	0	0	3.826e-05	0	0	0.0002	2.698e-06	6.623e-05	0.0003	6.57e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	4.17	0.97676	H	-1.6	0.82165	D	-7.58	0.96218	D	0.957	0.98466	0.817	0.94618	D	0.812	0.93643	D	10	0.86396056	0.85630	D	0.163189	0.84259	D	0.759	0.91795	0.445	0.50302	0.947695266014	0.94714	0.9364370637697772	0.93623	1.78073540629	0.91395	0.805943965912	0.82870	D	0.867772	0.97118	D	0.255076	0.79073	D	0.424815	0.92891	D	0.994776606559753	0.86277	D	0.975069	0.98514	D	0.94283015	0.95536	0.94496506	0.98088	0.94283015	0.95536	0.94496506	0.98088	-15.337	0.96962	D	.	.	0.990	0.93507	P	.;.;.;.;.	.;.;.;.;.	5.205104	0.87333	29.2	0.99784649171182804	0.87131	0.94099	0.60109	D	AEFDGBCI	0.904156	0.85412	D	0.992200915902067	0.95499	13.67907	0.912933408254571	0.96112	14.31592	0.999999999999977	0.74766	0.67177	0.52595	0	0.615948	0.52940	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	8.782000	0.91448	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:0.0:1.0:0.0	20.031	0.97535	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1424.33	35	chr22	50149653	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=1005;ExcessHet=0;FS=3.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.388;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1438,0,1869	18	0	1	0
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.02632	2139.33	41	chr22	50217099	.	G	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=908;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.323;SOR=0.584	GT:AD:DP:GQ:PL	0/1:113,80:193:99:2153,0,2770	18	0	1	0
chr22	50220013	50220013	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon17:c.C4111T:p.P1371S	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1510	11	1	0	13	0.00428619	.	.	.	959116	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00661215693462	0.0002	.	0.0004	0.0001	0.0002	0	0.0004	0.0004	0.0012	0.0010	0.0003363	52	154602	rs141419187	0.0007	0.0007	0.0007	0.0007	0.0011	0.0007	0.0007	0.0009	0.0008	0.0001	0.0003	3.826e-05	0	3.754e-05	0.0003	0.0008	0.0008	0.0011	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	7.22e-05	0	0.0003	0	0	0	0.0034	0.0007	0.0005	0.0002	0.728	0.24955	T	0.056	0.46632	T	0.007	0.14184	B	0.01	0.14941	B	0.430857	0.04704	N	1.754090	1	0.21792	N	1.245	0.31408	L	3.02	0.24085	T	-2.11	0.53258	N	0.184	0.19995	-1.0025	0.29197	T	0.048	0.20395	T	10	0.017356247	0.00370	T	0.006612	0.17444	T	0.064	0.18567	.	.	0.232513804876	0.22884	0.25920621884492806	0.25834	0.110930127955	0.12519	0.317449778318	0.13035	T	0.020921	0.16384	T	-0.567692	0.00228	T	-0.644575	0.09339	T	0.00552404392510653	0.00060	T	0.518948	0.16858	T	0.029990869	0.02585	0.045531824	0.06147	0.026778117	0.01780	0.047802147	0.06965	-3.236	0.12926	T	.	.	0.081	0.09917	B	.;.	.;.	1.228440	0.16229	12.40	0.92646693350669507	0.22123	0.17435	0.19836	N	AEFDBCI	0.041692	0.06371	N	-0.88676974984998	0.11156	0.5368888	-0.880420359003195	0.12558	0.64668	0.999972573845968	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.674467	0.66132	0	.	.	5.31	2.03	0.25714	-0.397000	0.07329	0.500000	0.18986	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1768:0.1582:0.665:0.0	5.759	0.17455	684	0.59539	.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1664.33	127	chr22	50220013	.	G	A	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.883;SOR=0.743	GT:AD:DP:GQ:PL	0/1:92,66:158:99:1678,0,3595	18	0	1	0
chr22	50248393	50248394	AG	-	exonic	HDAC10	.	frameshift deletion	HDAC10:NM_001159286:exon10:c.925_926del:p.L309Vfs*60,HDAC10:NM_032019:exon11:c.985_986del:p.L329Vfs*60	.	402	1111	9	0	0	9	0.00403407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.000998403	0.0008	0.0007	0.0007	0.0005	0.0002	0.0009	0.0034	0.0011	0.0006856	106	154602	rs561780178	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0008	0.0010	7.658e-05	0.0006	0.0001	0.0007	0.0007	0.0006	0.0012	0.0005	0.0005	0.0005	0.0005	0.0012	0.0004	0.0004	0.0005	0.0004	0.0005	0	0.0005	0	0.0006	9.414e-05	0.0034	0.0006	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2530.29	37	chr22	50248392	.	CAG	C	2530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.754;DP=878;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=1.1;SOR=0.806	GT:AD:DP:GQ:PL	0/1:86,67:153:99:2544,0,3351	18	0	1	0
chr22	50280808	50280808	G	A	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376875:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376878:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376884:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376864:exon24:c.C4166T:p.P1389L,PLXNB2:NM_001376866:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376870:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376871:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376880:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376882:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376883:exon24:c.C3905T:p.P1302L,PLXNB2:NM_001376885:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376886:exon24:c.C3836T:p.P1279L,PLXNB2:NM_012401:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376865:exon25:c.C3998T:p.P1333L,PLXNB2:NM_001376867:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376868:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376873:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376874:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376876:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376877:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376881:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376872:exon26:c.C3929T:p.P1310L,PLXNB2:NM_001376879:exon26:c.C3929T:p.P1310L	.	435	1072	15	0	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0138106906169	0.0006	0.000998403	0.0010	0.0001	0.0006	0.0001	0.0004	0.0010	0.0024	0.0025	0.0008926	138	154602	rs201776829	0.0011	0.0011	0.0011	0.0012	0.0030	0.0011	0.0011	0.0021	0.0020	0.0005	0.0009	0.0004	0.0002	4.327e-05	0.0030	0.0011	0.0014	0.0024	0.0010	0.0010	0.0010	0.0011	0.0035	0.0009	0.0008	0.0022	0.0017	0.0005	0.0256	0.0008	0.0006	0	0	0.0103	0.0011	0.0015	0.0035	0.024	0.47745	D	0.087	0.40747	T	0.006	0.13644	B	0.013	0.16460	B	0.116020	0.19210	N	0.475666	0.997781	0.22508	N	0.09	0.08384	N	2.79	0.11189	T	-3.09	0.63438	D	0.382	0.42639	-0.9968	0.30810	T	0.015	0.05946	T	10	0.005856663	0.00131	T	0.013811	0.33491	T	0.037	0.09474	.	.	0.151262610727	0.14761	0.32733322017215283	0.32646	0.78643042305	0.65537	0.343950808048	0.17027	T	0.266991	0.63898	T	-0.581398	0.00189	T	-0.613152	0.11730	T	0.0166283862148941	0.00423	T	0.894111	0.63286	D	0.07410875	0.16608	0.07532419	0.16570	0.07410875	0.16608	0.07532419	0.16569	-6.121	0.47281	T	.	.	0.082	0.08754	B	.;.	.;.	2.354145	0.30184	18.36	0.97218903285519076	0.32892	0.56618	0.30163	D	AEFBI	0.357596	0.44857	N	-0.778290179745485	0.13877	0.6868952	-0.723308231340654	0.16380	0.8662819	0.692393905171494	0.22603	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.38	0.739	0.17473	0.755000	0.26070	5.139000	0.47699	-0.222000	0.07959	0.568000	0.27489	1.000000	0.68203	0.271000	0.23793	0.0:0.0:0.4512:0.5488	13.021	0.58193	616	0.66398	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP 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	0.004028	0.005051	0.002725	0.002924	0.000000	0.008621	0.009146	0.000000	0.02632	1517.33	45	chr22	50280808	.	G	A	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=882;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.957;SOR=1.034	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1531,0,972	18	0	1	0
chr22	50447194	50447194	G	A	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon40:c.C5555T:p.P1852L,SBF1:NM_002972:exon41:c.C5630T:p.P1877L	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	404	1098	20	0	0	20	0.00902527	.	.	.	729299	not_provided|SBF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0006	0.000399361	0.0009	0.0001	0.0006	0	0.0003	0.0008	0.0048	0.0023	0.0007568	117	154602	rs200103683	0.0010	0.0010	0.0010	0.0011	0.0033	0.0010	0.0010	0.0024	0.0023	0.0003	0.0008	0.0006	2.519e-05	1.886e-05	0.0033	0.0010	0.0014	0.0027	0.0009	0.0009	0.0007	0.0010	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0.0253	0.0007	0.0009	0	0	0.0136	0.0010	0.0009	0.0021	0.362	0.11844	T	0.309	0.19782	T	.	.	.	.	.	.	0.398856	0.13153	N	0.703897	0.991333	0.24688	N	.	.	.	2.74	0.11730	T	-2.18	0.49187	N	0.114	0.18920	-0.9768	0.35727	T	0.015	0.05897	T	10	0.005461335	0.00120	T	.	.	.	0.105	0.29889	.	.	0.187035705434	0.18338	0.20266938833719525	0.20183	.	.	0.519870519638	0.41609	T	.	.	.	-0.512535	0.00486	T	-0.515473	0.20754	T	0.0172567476001579	0.00467	T	0.906409	0.67021	D	0.04857597	0.08489	0.067611955	0.14011	0.06464465	0.13736	0.06420602	0.12833	-2.905	0.09193	T	0.06474752917698337	0.02085	0.063	0.01738	B	.;.	.;.	2.131483	0.27137	17.36	0.93772909762678169	0.23726	0.07198	0.13223	N	AEFBHCI	0.077809	0.15685	N	-0.740126023486508	0.14903	0.7463937	-0.651050162122238	0.18190	0.9706369	0.864910583223825	0.25299	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	3.51	1.13	0.19758	-0.011000	0.12659	1.865000	0.29348	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.993000	0.69303	0.2041:0.1665:0.337:0.2924	0.574	0.00655	819	0.41190	.;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	0	0	0	1	0	1	0	0.005550	0.000000	0.005450	0.002924	0.000000	0.008621	0.012270	0.000000	0.02632	937.33	36	chr22	50447194	.	G	A	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.198;DP=701;ExcessHet=0;FS=1.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.723;SOR=0.981	GT:AD:DP:GQ:PL	0/1:23,35:58:99:951,0,613	18	0	1	0
chrX	24208272	24208272	-	TGC	exonic	ZFX	.	nonframeshift insertion	ZFX:NM_001178086:exon4:c.308_309insTGC:p.A112_V113insA,ZFX:NM_001178084:exon6:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001178095:exon6:c.995_996insTGC:p.A341_V342insA,ZFX:NM_003410:exon8:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001178085:exon9:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001330327:exon9:c.1112_1113insTGC:p.A380_V381insA	.	1	1504	12	5	0	22	0.00726073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0003	0	0	0.0003	0.0016	0.0031	0.0005045	78	154602	rs750036944	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0040	0.0034	3.797e-05	0.0002	0.0006	0	0	0.0058	6.296e-05	0.0005	0.0032	0.0002	0.0003	0.0002	0.0004	0.0053	0.0002	0.0002	0.0033	0.0027	0	0	0	0.0015	0	0	0.0046	0.0001	0.0006	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007597	0.000000	0.003711	0.019763	0.000000	0.011765	0.004425	0.010526	0.02632	3227.29	34	chrX	24208272	.	A	ATGC	3227.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.774;DP=841;ExcessHet=0;FS=3.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=0.452;SOR=0.476	GT:AD:DP:GQ:PL	0/1:88,87:175:99:3241,0,3427	18	0	1	0
chrX	36367063	36367063	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon62:c.G9121A:p.D3041N	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00102392865106	.	.	6.189e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs781922359	1.052e-05	1.002e-05	5.648e-06	2.075e-05	0.0005	5.65e-06	4.13e-06	8.671e-05	3.604e-05	0	3.637e-05	0	0	0	0.0005	1.229e-06	0.0001	4.091e-05	0	8.709e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.792	0.04168	T	.	.	.	.	.	.	0.269927	0.15148	N	0.659595	0.999996	0.08975	N	.	.	.	.	.	.	.	.	.	0.183	0.19861	-0.9601	0.39162	T	0.022	0.09193	T	10	0.07046887	0.10256	T	0.001024	0.01120	T	0.044	0.11924	.	.	0.117191471859	0.11215	0.0482550956339128	0.04768	.	.	.	.	.	.	.	.	-0.575928	0.00204	T	-1.01886	0.00107	T	0.0222924093294805	0.00942	T	0.611339	0.23205	T	0.052621607	0.09841	0.10378437	0.24909	0.052621607	0.09840	0.10378437	0.24909	-3.744	0.19970	T	.	.	0.091	0.13221	B	.	.	-0.236741	0.02908	0.420	0.76630909665889579	0.11546	0.09974	0.15605	N	AEFGI	.	.	.	.	.	.	.	.	.	0.0258382982695738	0.13674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.34	-5.13	0.02665	0.261000	0.18211	-0.420000	0.09290	0.618000	0.50648	0.963000	0.33788	0.000000	0.08366	0.873000	0.41610	0.7575:0.108:0.1345:0.0	11.336	0.48743	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4090.81	44	chrX	36367063	.	G	A	4090.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.3;SOR=0.973	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4118,405,0	18	1	0	0
chrX	50310738	50310738	A	C	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.A2569C:p.K857Q	.	425	1077	14	6	0	26	0.0119266	.	.	.	717819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00367320313406	0.0021	0.0015894	0.0023	0.0007	0.0029	0	0	0.0032	0.0069	0.0010	0.0021022	325	154602	rs139478498	0.0017	0.0017	0.0016	0.0018	0.0331	0.0016	0.0016	0.0286	0.0269	0.0015	0.0039	0.0204	0	0.0003	0.0331	0.0010	0.0042	0.0015	0.0021	0.0022	0.0021	0.0021	0.0073	0.0019	0.0018	0.0060	0.0055	0.0005	0	0.0073	0.0174	0	0	0.0280	0.0015	0.0079	0.0011	0.068	0.35726	T	0.027	0.55341	D	0.791	0.44643	P	0.101	0.30765	B	0.000000	0.00162	N	31.512000	1	0.08975	N	1.735	0.44892	L	1.35	0.34648	T	-0.68	0.19509	N	0.032	0.00942	-1.0085	0.27385	T	0.061	0.25635	T	9	0.006121278	0.00138	T	0.003673	0.08464	T	0.065	0.18881	.	.	0.405070198662	0.40122	0.08622780050717618	0.08556	0.544890993943	0.51533	0.285189300776	0.08226	T	0.046123	0.27328	T	-0.780077	0.00011	T	-0.894776	0.00540	T	0.00303931959721433	0.00032	T	0.349165	0.07749	T	0.21051435	0.43351	0.09401993	0.22236	0.21051435	0.43350	0.09401993	0.22236	-7.637	0.58569	D	.	.	0.180	0.39134	B	.;.	.;.	-0.424234	0.02123	0.202	0.84312173577931593	0.15218	0.02573	0.07118	N	AEFBI	.	.	.	.	.	.	.	.	.	3.20592325609695E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.93	-0.816	0.10292	-1.865000	0.01741	1.178000	0.24674	0.747000	0.86732	0.000000	0.06391	0.012000	0.20211	0.022000	0.11911	0.5052:0.0:0.4948:0.0	5.738	0.17347	428	0.80967	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.029228	0.020408	0.022263	0.083004	0.000000	0.035294	0.004425	0.010526	0.02632	2211.33	55	chrX	50310738	.	A	C	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.827;DP=799;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.81;SOR=0.754	GT:AD:DP:GQ:PL	0/1:69,79:148:99:2225,0,1811	18	0	1	0
chrX	50311170	50311170	G	C	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.G3001C:p.G1001R	.	.	.	.	.	.	.	.	.	.	.	706264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.046	.	.	0.0116556	0.0045	0	0.0003	0.0586	0	6.259e-05	0	9.888e-05	0.0037516	580	154602	rs6614336	0.0017	0.0017	0.0017	0.0016	0.0579	0.0016	0.0016	0.0557	0.0548	0	0.0001	0	0.0579	0	0	9.515e-06	0.0011	0.0002	0.0021	0.0022	0.0021	0.0019	0.0632	0.0018	0.0017	0.0555	0.0525	0	0	0.0001	0	0.0632	0	0	6.785e-05	0	0.0006	0.368	0.11623	T	0.345	0.17750	T	0.994	0.66517	D	0.953	0.69275	D	0.000000	0.00162	N	57.130600	1	0.08975	N	0.345	0.11182	N	2.35	0.16217	T	0.25	0.04456	N	0.032	0.06587	-1.0190	0.24041	T	0.013	0.04985	T	8	0.0030851662	0.00051	T	.	.	.	0.046	0.12618	.	.	0.385232620033	0.38131	0.0537664701916457	0.05318	0.693697309907	0.60719	0.235947728157	0.02437	T	0.016472	0.13610	T	-0.818608	0.00005	T	-0.905393	0.00465	T	0.0450961631627691	0.04619	T	0.461754	0.13398	T	0.16519497	0.36775	0.2548275	0.51155	0.16519497	0.36775	0.2548275	0.51154	-1.25	0.01324	T	.	.	0.122	0.25429	B	.;.	.;.	0.403180	0.07744	4.425	0.92932952589907003	0.22499	0.00182	0.01064	N	AEFBI	.	.	.	.	.	.	.	.	.	2.83245046077673E-4	0.06355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.158	0.14233	-0.962000	0.03951	-0.346000	0.09780	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	.	.	.	428	0.80967	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3379.33	55	chrX	50311170	.	G	C	3379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.71;DP=953;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.99;SOR=0.624	GT:AD:DP:GQ:PL	0/1:153,145:298:99:3393,0,4169	18	0	1	0
chrX	50607408	50607408	G	A	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon6:c.C3734T:p.S1245L	.	3	1501	13	5	0	23	0.00760331	.	.	.	135758	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0028	0.0455629	0.0198	0.0014	0.0003	0.2134	0.0080	0.0028	0.0244	0.0106	0.0171343	2649	154602	rs12689863	0.0087	0.0087	0.0086	0.0089	0.2003	0.0086	0.0085	0.1961	0.1944	0.0008	0.0002	0	0.2003	0.0073	0.0088	0.0020	0.0171	0.0130	0.0088	0.0092	0.0087	0.0091	0.2059	0.0084	0.0082	0.1934	0.1884	0.0016	0	0.0016	0	0.2059	0.0072	0	0.0021	0.0080	0.0134	0.014	0.55530	D	0.325	0.42614	T	0.448	0.36030	B	0.102	0.30857	B	0.324988	0.14208	N	0.644220	0.999958	0.19072	P	1.1	0.28011	L	2.86	0.15145	T	-0.9	0.25332	N	0.193	0.21188	-1.0102	0.26854	T	0.000	0.00075	T	9	0.0011920631	0.00013	T	.	.	.	0.078	0.22779	.	.	.	.	0.2656513934785834	0.26478	0.229262324409	0.25486	0.416584044695	0.27367	T	0.010154	0.09196	T	-0.682457	0.00046	T	-0.609258	0.12045	T	0.0151797342808891	0.00332	T	0.810419	0.47040	T	0.1263741	0.29601	0.16902532	0.38906	0.10865076	0.25689	0.17445233	0.39841	-3.84	0.21403	T	.	.	0.095	0.15206	B	.;.;.	.;.;.	2.437309	0.31360	18.72	0.9137041917129346	0.20635	0.80443	0.40079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.998965970584086	0.38084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	4.36	0.51643	3.722000	0.54675	5.651000	0.49183	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	11.244	0.48216	799	0.44747	Apx/Shrm Domain 2;Apx/Shrm Domain 2;.	.	.	.	.	.	Likely benign	0	0	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	0.011757	0.000000	0.005566	0.023715	0.000000	0.000000	0.004425	0.036842	0.02632	1412.33	36	chrX	50607408	.	G	A	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=722;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.944;SOR=0.576	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1426,0,942	18	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:128,563:691:99:15644,0,1616	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:368,353:721:99:8740,0,9757	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,317:696:99:0|1:55146173_G_A:11185,0,14076:55146173	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,279:627:99:0|1:55146173_G_A:10406,0,13578:55146173	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:143,387:530:99:13784,0,2602	0	0	19	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1520.83	426	chrX	55146214	.	G	A	1520.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.07;DP=7834;ExcessHet=0.119;FS=1.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.262;SOR=0.893	GT:AD:DP:GQ:PL	0/1:459,62:521:99:455,0,17183	17	0	2	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:360,58:418:99:640,0,14079	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,156:393:99:0|1:55146247_G_C:5476,0,9383:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,147:378:99:0|1:55146247_G_C:5261,0,9246:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:271,94:365:99:2964,0,10665	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,133:361:99:0|1:55146247_G_C:4898,0,9153:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:110,164:274:99:6545,0,4017	0	0	19	0
chrX	67546517	67546517	C	0	exonic	AR	.	.	.	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	170	1174	107	66	5	244	0.092385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	216.15	58	chrX	67546517	.	C	*	216.15	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=620;ExcessHet=0.1688;FS=2.79;InbreedingCoeff=0.1387;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.423;SOR=1.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,31:44:99:0|1:67546514_TGGCGGCGGCGGC_T:1144,0,315:67546514	12	1	3	3
chrX	101492205	101492205	A	G	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.A3616G:p.K1206E	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0287880630469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.692e-07	9.107e-07	1.43e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.283e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.30669	T	.	.	.	0.166	0.17553	-1.0047	0.28547	T	0.071	0.28839	T	4	0.09623724	0.17246	T	0.028788	0.51409	D	0.018	0.03083	.	.	0.21279746466	0.20884	0.02588546856481832	0.02539	.	.	0.516894936562	0.41189	T	.	.	.	-0.52916	0.00388	T	-0.997878	0.00143	T	0.143737708179918	0.16593	T	0.360464	0.08297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.39408	B	.	.	1.565276	0.20044	14.56	0.58806973168392085	0.06077	0.07837	0.13830	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.959220188783138	0.28412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.28	-1.1	0.09367	-1.430000	0.02541	0.887000	0.22442	0.736000	0.85976	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.3598:0.5264:0.1138:0.0	6.137	0.19459	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	68	chrX	101492205	.	A	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.542;DP=1309;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.338;SOR=0.764	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1647,0,1853	18	0	1	0
chrX	106840144	106840144	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon9:c.G1450A:p.V484I,TBC1D8B:NM_198881:exon9:c.G1450A:p.V484I	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.164955596577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.358	0.19246	T	0.048	0.22112	B	0.025	0.20508	B	0.000007	0.62929	D	0.063715	0.992838	0.41757	D	2.54	0.74080	M	3.65	0.04267	T	-0.42	0.14588	N	0.217	0.24260	-1.0333	0.19395	T	0.019	0.08079	T	10	0.33206168	0.50418	T	0.164956	0.84394	D	0.141	0.37795	0.669	0.80703	0.381916209588	0.37799	0.30529884893706755	0.30442	0.0983695897329	0.11110	0.556555747986	0.46781	T	0.082078	0.36744	T	-0.457016	0.01026	T	-0.894248	0.00544	T	0.829409837722778	0.48484	D	0.943306	0.78595	D	0.14428677	0.33126	0.1512248	0.35631	0.14428677	0.33126	0.1512248	0.35630	-4.911	0.35858	T	.	.	0.089	0.15654	B	.;.;.	.;.;.	2.191732	0.27947	17.63	0.99093620409150718	0.52272	0.93207	0.57605	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0794417942119575	0.15817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.99	0.65942	4.626000	0.60968	8.524000	0.77433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.8494:0.1506	14.077	0.64418	327	0.86637	Rab-GTPase-TBC domain;.;Rab-GTPase-TBC 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	.	.	.	.	.	.	.	.	0.02632	1905.33	33	chrX	106840144	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.403;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.524;SOR=0.687	GT:AD:DP:GQ:PL	0/1:63,79:142:99:1919,0,1620	18	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	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	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.1579	11282.4	48	chrX	107981733	.	G	C	11282.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.86;DP=1207;ExcessHet=0.0015;FS=1.134;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.359;SOR=0.8	GT:AD:DP:GQ:PL	0/1:110,103:213:99:2587,0,2840	15	2	2	0
chrX	108196535	108196543	TCCCTTTTC	-	exonic	COL4A6	.	nonframeshift deletion	COL4A6:NM_001287758:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001287759:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001287760:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001847:exon14:c.874_882del:p.E292_G294del,COL4A6:NM_033641:exon14:c.871_879del:p.E291_G293del	.	0	1520	1	1	0	3	0.000985869	.	.	.	706053	not_provided|Hearing_loss,_X-linked_6	MedGen:C3661900|MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0019	0.0010596	0.0014	0.0014	0.0015	0.0005	0	0.0013	0	0.0030	0.0001153	3	26028	rs775824038	0.0020	0.0021	0.0020	0.0020	0.0029	0.0019	0.0019	0.0025	0.0024	0.0006	0.0013	0	0.0004	2.472e-05	0.0002	0.0022	0.0019	0.0029	0.0015	0.0015	0.0015	0.0014	0.0019	0.0013	0.0012	0.0016	0.0015	0.0011	0	0.0019	0	0.0014	0	0	0.0019	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1340.29	34	chrX	108196534	.	TTCCCTTTTC	T	1340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.021;SOR=0.65	GT:AD:DP:GQ:PL	0/1:53,36:89:99:1354,0,2104	18	0	1	0
chrX	120875222	120875222	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G449A:p.R150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000912688391751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465740235	1.823e-06	1.822e-06	0	5.514e-06	3.789e-05	3e-07	1.1e-07	.	.	3.789e-05	0	0	0	0	0	0	0	1.848e-05	1.771e-05	1.742e-05	2.569e-05	0	9.243e-05	2.94e-06	1.1e-06	.	.	3.208e-05	0	9.243e-05	0	0	0	0	0	0	0	0.025	0.47320	D	0.082	0.41573	T	0.997	0.70673	D	0.984	0.76113	D	.	.	.	.	1	0.08975	N	2.24	0.63355	M	.	.	.	-2.18	0.49187	N	0.085	0.06190	-1.0488	0.14733	T	0.119	0.41648	T	8	0.15962264	0.29986	T	9.13E-4	0.00866	T	0.035	0.08770	0.299	0.26522	0.0884992946249	0.08302	0.04518316343411371	0.04462	0.0235261924613	0.02386	0.433502942324	0.29688	T	0.041952	0.26026	T	-0.569937	0.00221	T	-0.864116	0.00800	T	0.914614856243134	0.57133	D	0.584142	0.21248	T	0.055965196	0.10948	0.07019047	0.14883	0.055965196	0.10948	0.07019047	0.14882	-4.207	0.26853	T	.	.	0.112	0.21803	B	.	.	0.669785	0.10384	7.107	0.99853857693315595	0.93279	0.00240	0.01331	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.92667448572943E-4	0.07414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7	1.7	0.23359	-3.601000	0.00467	-20.000000	0.00162	-0.514000	0.04992	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:1.0:0.0:0.0	6.354	0.20594	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2382.33	33	chrX	120875222	.	C	T	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=873;ExcessHet=0;FS=6.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.061;SOR=0.903	GT:AD:DP:GQ:PL	0/1:75,97:172:99:2396,0,1736	18	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:44,20:70:19:19,0,628	2	0	17	0
chrX	136680750	136680750	G	A	exonic	ARHGEF6	.	nonsynonymous SNV	ARHGEF6:NM_001306177:exon14:c.C1223T:p.S408L,ARHGEF6:NM_004840:exon15:c.C1685T:p.S562L	Mental retardation, X-linked 46, X-linked recessive	3	1516	2	1	0	4	0.00131752	.	.	.	430657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00630515350253	.	.	5.698e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs774734407	4.281e-05	4.279e-05	4.084e-05	4.679e-05	0.0005	3.298e-05	2.956e-05	8.516e-05	3.547e-05	0	0	0.0002	0	0	0.0005	4.276e-05	8.679e-05	1.847e-05	5.347e-05	5.22e-05	5.138e-05	5.819e-05	0.0001	2.319e-05	1.56e-05	4.835e-05	3.347e-05	0	0	0	0	0	0	0	0.0001	0	0	0.899	0.02550	T	0.795	0.04129	T	0.001	0.07471	B	0.001	0.04355	B	0.160803	0.17669	N	0.564077	0.999995	0.08975	N	0.55	0.14455	N	0.65	0.54728	T	-0.73	0.20576	N	0.388	0.45992	-1.0800	0.07349	T	0.065	0.26913	T	10	0.1420719	0.26989	T	0.006305	0.16551	T	0.099	0.28413	0.241	0.17371	0.623327264329	0.62026	0.15477527282966913	0.15398	0.25236330413	0.27803	0.544069111347	0.45021	T	0.189032	0.54313	T	-0.370062	0.03590	T	-0.543643	0.17941	T	0.0606795403751997	0.07276	T	0.882712	0.60367	D	0.07456359	0.16742	0.08294013	0.18968	0.07456359	0.16742	0.08294013	0.18968	-4.26	0.27612	T	0.07658476503085443	0.03512	0.075	0.07841	B	.;.;.	.;.;.	2.784536	0.36587	20.3	0.76350758524469386	0.11433	0.71865	0.35199	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.991480944944952	0.32504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	4.06	0.46572	3.778000	0.55078	8.864000	0.78324	0.618000	0.50648	0.165000	0.23867	1.000000	0.68203	0.987000	0.62547	0.1115:0.0:0.5351:0.3533	5.166	0.14412	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.02632	1398.33	34	chrX	136680750	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=753;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.38;SOR=0.518	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1412,0,1928	18	0	1	0
chrX	151396890	151396890	G	C	exonic	VMA21	.	nonsynonymous SNV	VMA21:NM_001363810:exon1:c.G51C:p.E17D	Myopathy, X-linked, with excessive autophagy, X-linked recessive	8	1511	2	1	0	4	0.00132188	.	.	.	1682852	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00423841	0.0001	0.0032	0	0	0	0	0	0	0.0001294	20	154602	rs138128701	0.0004	0.0004	0.0005	0.0003	0.0103	0.0004	0.0004	0.0089	0.0083	0.0103	0.0004	0	0	0	0.0027	4.284e-05	0.0007	7.923e-05	0.0026	0.0027	0.0027	0.0024	0.0088	0.0023	0.0022	0.0079	0.0076	0.0088	0	0.0013	0	0	0	0	3.793e-05	0.0013	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.074892	0.02291	N	2.137540	1	0.08975	N	.	.	.	.	.	.	0.11	0.05706	N	0.057	0.02861	-1.0045	0.28607	T	0.071	0.29066	T	6	0.0035504699	0.00064	T	.	.	.	0.028	0.06331	0.085	0.00830	0.294470080753	0.29051	0.07225031069519404	0.07162	.	.	.	.	.	.	.	.	-0.796491	0.00008	T	-0.910907	0.00430	T	0.00628636324453968	0.00070	T	0.286771	0.05140	T	.	.	.	.	.	.	.	.	-2.977	0.09935	T	.	.	0.080	0.07650	B	.	.	0.282796	0.06594	3.087	0.69401655118958927	0.08960	0.10588	0.16052	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999963246	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.08	-0.846	0.10190	0.086000	0.14780	-0.017000	0.12978	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4304:0.1748:0.3948:0.0	4.130	0.09612	728	0.54609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	890.33	34	chrX	151396890	.	G	C	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.675;DP=796;ExcessHet=0;FS=1.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.469;SOR=0.733	GT:AD:DP:GQ:PL	0/1:49,45:94:99:904,0,1133	18	0	1	0
chrX	153445300	153445300	T	C	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.A131G:p.E44G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.017868552187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.105e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13834	T	0.386	0.17478	T	0.008	0.14655	B	0.005	0.11217	B	0.180024	0.17128	U	0.440966	1	0.08975	N	0.805	0.20218	L	1.01	0.41058	T	-0.92	0.24676	N	0.149	0.15749	-1.0767	0.08003	T	0.057	0.23828	T	10	0.09365997	0.16593	T	0.017869	0.39735	T	0.047	0.12962	0.305	0.27485	0.124217242631	0.12060	0.2368229446806804	0.23597	0.0236588909431	0.02399	0.33353716135	0.15467	T	0.058828	0.30950	T	-0.390289	0.02678	T	-0.7984	0.01943	T	0.280622899532318	0.24198	T	0.630737	0.24588	T	0.13909522	0.32144	0.08218948	0.18737	0.13909522	0.32144	0.08218948	0.18737	.	.	.	.	.	0.075	0.10400	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.002673	0.13811	10.36	0.9141672761687113	0.20685	0.07720	0.13722	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.846931936365911	0.24971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.79	0.42757	0.039000	0.13770	.	.	0.661000	0.55757	0.000000	0.06391	0.167000	0.23311	0.055000	0.15596	0.0:0.0:0.1875:0.8125	8.796	0.34040	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase 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	.	.	.	.	.	.	.	.	0.02632	1380.33	33	chrX	153445300	.	T	C	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.519;DP=767;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.66;SOR=0.652	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1394,0,1972	18	0	1	0
chrX	153771516	153771516	C	T	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon14:c.C2378T:p.P793L,PLXNB3:NM_001163257:exon15:c.C2447T:p.P816L	.	427	1080	8	7	0	22	0.0100825	.	.	.	717712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0029	0.00821192	0.0057	0.0033	0.0044	0.0008	0.0003	0.0026	0.0152	0.0331	0.0056209	869	154602	rs138935872	0.0038	0.0038	0.0031	0.0050	0.0305	0.0037	0.0036	0.0293	0.0288	0.0038	0.0040	0.0098	0.0002	0.0003	0.0197	0.0021	0.0052	0.0305	0.0036	0.0037	0.0036	0.0038	0.0312	0.0033	0.0032	0.0259	0.0240	0.0031	0	0.0026	0.0090	0.0017	0.0002	0.0185	0.0027	0.0141	0.0312	0.212	0.22224	T	0.207	0.27503	T	0.135	0.27304	B	0.018	0.18489	B	0.004382	0.33795	N	0.281133	0.997733	0.22531	N	1.845	0.48678	L	5.31	0.01121	T	-2.42	0.53096	N	0.177	0.40264	-0.7828	0.56144	T	0.178	0.52381	T	10	0.0056293905	0.00125	T	.	.	.	0.090	0.26093	.	.	0.194818534648	0.19098	0.5383340843596495	0.53758	.	.	0.491781949997	0.37686	T	0.180185	0.53143	T	-0.602859	0.00140	T	-0.615057	0.11579	T	0.012788187392927	0.00217	T	0.835616	0.50622	T	0.09283736	0.21790	0.14637779	0.34681	0.09283736	0.21790	0.14637779	0.34681	-5.413	0.42213	T	.	.	0.107	0.22464	B	.;.	.;.	2.737141	0.35844	20.0	0.99790610643534716	0.87661	0.18495	0.20284	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999245484507451	0.38873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	4.16	0.48138	0.956000	0.28799	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.675000	0.33396	0.2368:0.7632:0.0:0.0	10.659	0.44882	55	0.97548	.;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.018068	0.020408	0.022430	0.019920	0.000000	0.011905	0.013333	0.010526	0.02632	2926.33	37	chrX	153771516	.	C	T	2926.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=900;ExcessHet=0;FS=9.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.814;SOR=1.243	GT:AD:DP:GQ:PL	0/1:93,108:201:99:2940,0,2151	18	0	1	0
chrX	154953948	154953948	T	C	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon12:c.A1847G:p.N616S	Hemophilia A, X-linked recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2795269	Bardet-Biedl_syndrome_2	MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.573196748178	9.5e-05	.	0.0002	0	0	0	0	0.0003	0.0016	0	0.0001617	25	154602	rs375093700	7.286e-05	7.284e-05	5.717e-05	0.0001	0.0005	5.959e-05	5.52e-05	8.514e-05	6.256e-05	0	0	0	0	9.869e-05	0.0005	8.433e-05	2.17e-05	3.694e-05	5.364e-05	5.221e-05	1.285e-05	0.0001	0.0004	2.325e-05	1.564e-05	3.694e-05	2.392e-05	0	0	0	0	0	0	0	9.403e-05	0	0.0004	0.152	0.24468	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	0.355438	0.13751	N	0.737807	1	0.08975	N	0.565	0.15224	N	-6.71	0.99769	D	-2.07	0.47344	N	0.053	0.02462	0.907	0.95772	D	0.939	0.97989	D	10	0.15907934	0.29899	T	0.573197	0.96148	D	0.262	0.57482	.	.	0.715724739074	0.71323	0.8933462162278807	0.89304	0.511042367575	0.49199	0.252330541611	0.04017	T	0.529925	0.83714	D	-0.388585	0.02748	T	-0.501117	0.22233	T	0.04093203821421	0.03860	T	0.672333	0.28093	T	0.15846334	0.35649	0.16491449	0.38179	0.15846334	0.35649	0.16491449	0.38178	-3.796	0.20745	T	0.20096757974924584	0.26687	0.087	0.11124	B	.	.	-0.898758	0.00928	0.035	0.57352537915972024	0.05750	0.03951	0.09352	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00477433158853883	0.10707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.18	-3.35	0.04620	-0.264000	0.08683	-0.824000	0.07283	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.468000	0.28296	0.0:0.5019:0.0:0.4981	10.835	0.45884	194	0.92479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000690	0.000000	0.000000	0.000000	0.000000	0.000000	0.004484	0.000000	0.02632	3042.33	34	chrX	154953948	.	T	C	3042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.727;DP=860;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.801;SOR=0.733	GT:AD:DP:GQ:PL	0/1:113,119:232:99:3056,0,2922	18	0	1	0