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	NSWES957	WT	HH	HZ	NC
chr1	979088	979088	G	C	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1942G:p.P648A,PERM1:NM_001291366:exon2:c.C1942G:p.P648A,PERM1:NM_001369897:exon2:c.C1942G:p.P648A,PERM1:NM_001291367:exon3:c.C1600G:p.P534A	.	422	1099	0	1	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.107888436619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.147e-06	2.052e-06	1.412e-06	2.903e-06	0.0002	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0.0002	1.855e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.076987	0.21130	N	0.399796	1	0.08975	N	.	.	.	.	.	.	-3.41	0.67129	D	0.107	0.09207	-0.9672	0.37774	T	0.112	0.40191	T	9	0.13345584	0.25400	T	0.107888	0.78416	D	0.026	0.05648	.	.	0.0551355673512	0.04727	0.156346589175036	0.15555	.	.	.	.	.	0.111678	0.42736	T	-0.0672128	0.41772	T	-0.334323	0.40985	T	0.925243079662323	0.58686	D	0.528347	0.20346	T	0.05675663	0.11207	0.114747	0.27700	0.05675663	0.11207	0.114747	0.27699	-4.65	0.32794	T	.	.	0.080	0.07745	B	.;.	.;.	2.571087	0.33319	19.30	0.9885599585804673	0.47373	0.08750	0.14633	N	AEFBCI	0.071891	0.14328	N	-0.485388544767159	0.22559	1.205416	-0.577805470024774	0.20072	1.079807	0.0426184451924942	0.14534	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.96	2.88	0.32617	1.278000	0.32784	.	.	0.616000	0.49467	0.008000	0.17931	0.166000	0.23302	0.288000	0.24212	0.1067:0.2462:0.6471:0.0	6.077	0.19145	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1946.33	53	chr1	979088	.	G	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=1256;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.1;SOR=0.756	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1960,0,1619	18	0	1	0
chr1	1333008	1333008	G	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon4:c.G1363A:p.D455N	.	417	1102	3	0	0	3	0.00135931	.	.	.	2320314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.287	0.22177510327	0.0008	0.000599042	0.0006	0.0001	0.0004	0	0.0003	0.0008	0	0.0003	0.0005692	88	154602	rs149099807	0.0009	0.0009	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	8.962e-05	0.0005	3.828e-05	0	0.0005	0	0.0010	0.0007	0.0004	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0005	0	0	0.0005	0	0.0010	0.0009	0.0002	0.318	0.13654	T	0.694	0.05844	T	0.711	0.42090	P	0.107	0.31211	B	0.028638	0.01688	N	2.530250	0.624499	0.32734	D	2.17	0.60663	M	-1.65	0.82625	D	-2.15	0.48687	N	0.343	0.38438	-0.3874	0.72423	T	0.408	0.75727	T	10	0.07403928	0.11266	T	0.221775	0.87822	D	0.287	0.60574	.	.	0.361758802978	0.35793	0.5395577922530935	0.53880	.	.	0.377478718758	0.21898	T	0.259208	0.63044	T	-0.283799	0.10269	T	-0.264707	0.48352	T	0.0196925182735628	0.00671	T	0.715628	0.32820	T	0.10825562	0.25596	0.071433745	0.15297	0.10825562	0.25595	0.071433745	0.15297	-6.687	0.51712	T	.	.	0.155	0.34205	B	.	.	2.437556	0.31368	18.72	0.99255688880673676	0.57022	0.13508	0.17896	N	AEFDBHCIJ	0.043932	0.07006	N	-0.112060896423575	0.36868	2.136887	-0.101845774457812	0.35317	2.041747	0.999999936682533	0.74766	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	4.86	3.94	0.44807	1.565000	0.35993	4.359000	0.43112	0.575000	0.29119	0.199000	0.24297	1.000000	0.68203	0.378000	0.26290	0.243:0.0:0.757:0.0	7.537	0.26885	774	0.48577	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2293.33	82	chr1	1333008	.	G	A	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=1379;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.062;SOR=0.726	GT:AD:DP:GQ:PL	0/1:126,100:226:99:2307,0,3228	18	0	1	0
chr1	1520197	1520197	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G571A:p.A191T,ATAD3A:NM_001170536:exon6:c.G334A:p.A112T,ATAD3A:NM_018188:exon6:c.G715A:p.A239T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	414	1078	30	0	0	30	0.0137237	.	.	YES	794417	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	.	.	0.0044	0.0256	0.0027	0.0005	0.0015	0.0032	0.0013	0.0021	0.0002587	40	154602	rs2986576	0.0010	0.0025	0.0009	0.0010	0.0038	0.0009	0.0009	0.0025	0.0021	0.0006	0.0009	0.0012	0.0001	0.0011	0.0038	0.0010	0.0013	0.0005	0.0021	0.0035	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0019	0	0.0010	0.0020	0.0004	0.0010	0	0.0028	0.0043	0.0004	0.059	0.43393	T	0.045	0.50514	D	0.254	0.31272	B	0.247	0.38902	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.25	0.19860	T	-2.99	0.62151	D	0.787	0.78737	0.372	0.88676	D	0.557	0.83854	D	10	0.013066947	0.00278	T	.	.	.	0.274	0.59007	.	.	0.621583459065	0.61851	0.6255127610254827	0.62484	0.383871402863	0.39705	0.69321680069	0.66168	T	0.225816	0.59066	T	0.00522786	0.52374	T	-0.230267	0.51746	T	0.10931204842641	0.13352	T	0.822018	0.48145	T	0.270079	0.50080	0.32427993	0.58353	0.25576767	0.48613	0.3278964	0.58683	-7.068	0.64151	T	0.4525980482247435	0.53616	0.148	0.45665	B	.;.;.	.;.;.	3.855226	0.55878	23.7	0.99634795245590502	0.76264	0.99612	0.97981	D	AEFDBI	0.917445	0.88506	D	0.45375012847299	0.64417	4.695684	0.389016773231514	0.60886	4.281534	0.999999949567692	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	9.253000	0.94694	9.568000	0.81006	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:0.0:1.0:0.0	15.785	0.78065	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015812	0.026882	0.016349	0.008264	0.000000	0.025862	0.009868	0.011628	0.05263	461.83	38	chr1	1520197	.	G	A	461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1247;ExcessHet=0.119;FS=18.492;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.68;MQRankSum=-9.443;QD=0.97;ReadPosRankSum=-1.814;SOR=2.394	GT:AD:DP:GQ:PL	0/1:187,34:221:99:375,0,5185	17	0	2	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	0/1:148,20:168:99:184,0,3748	17	0	2	0
chr1	2194696	2194696	-	A	exonic	FAAP20	.	frameshift insertion	FAAP20:NM_001256945:exon1:c.53_54insT:p.A19Gfs*108,FAAP20:NM_001256946:exon1:c.53_54insT:p.A19Gfs*16,FAAP20:NM_001256947:exon1:c.53_54insT:p.A19Gfs*118,FAAP20:NM_001282673:exon1:c.53_54insT:p.A19Gfs*16,FAAP20:NM_182533:exon1:c.53_54insT:p.A19Gfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	34.45	16	chr1	2194696	.	C	CA	34.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=191;ExcessHet=0;FS=0;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=1.28;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:48:0|1:2194696_C_CA:48,0,285:2194696	18	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,52:221:62:0|1:10326244_G_C:62,0,5488:10326244	7	0	12	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M,CASZ1:NM_017766:exon6:c.C845T:p.T282M	.	422	1056	40	4	0	48	0.0222222	.	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009511	0.011765	0.050000	0.017241	0.024390	0.018939	0.05263	2430.83	34	chr1	10660197	.	G	A	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.81;DP=866;ExcessHet=0.119;FS=1.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.79;SOR=0.566	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1130,0,1009	17	0	2	0
chr1	11711942	11711942	G	A	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon4:c.G734A:p.G245D	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00869014086054	0.0023	0.00239617	0.0030	0.0005	0.0040	0	0	0.0039	0.0025	0.0034	0.0026326	407	154602	rs143337024	0.0026	0.0026	0.0025	0.0026	0.0189	0.0025	0.0025	0.0160	0.0149	0.0007	0.0038	0.0059	0	9.365e-05	0.0189	0.0025	0.0038	0.0035	0.0025	0.0025	0.0023	0.0028	0.0084	0.0023	0.0022	0.0073	0.0068	0.0004	0.0022	0.0084	0.0063	0	0.0002	0.0068	0.0027	0.0062	0.0029	0.667	0.04602	T	0.659	0.06533	T	0.175	0.28858	B	0.058	0.26451	B	0.171464	0.17362	N	0.571130	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.13	0.08971	N	0.1	0.08227	-1.0106	0.26729	T	0.027	0.11618	T	10	0.0050876737	0.00110	T	0.00869	0.22952	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.20699269443867516	0.20615	0.335625430574	0.35560	0.271372318268	0.06320	T	0.038483	0.24856	T	-0.597618	0.00151	T	-0.627208	0.10627	T	0.00131839134968863	0.00013	T	0.772323	0.40326	T	0.022511011	0.00919	0.03660499	0.03140	0.022511011	0.00919	0.03660499	0.03139	-4.245	0.27398	T	.	.	0.14	0.30686	B	.	.	2.128777	0.27101	17.35	0.88116028305620708	0.17728	0.45031	0.27448	N	AEFBI	0.062487	0.12014	N	-0.890550320041349	0.11066	0.5320832	-0.740347626990683	0.15959	0.8419655	0.829381201005123	0.24665	0.732398	0.92422	0	0.851559	0.99867	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.7	2.19	0.26890	0.831000	0.27129	1.939000	0.29818	-0.140000	0.12423	0.989000	0.36753	1.000000	0.68203	0.516000	0.29383	0.0:0.2138:0.1347:0.6515	5.986	0.18662	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.030303	0.009511	0.020468	0.000000	0.034483	0.015244	0.011364	0.02632	2338.33	63	chr1	11711942	.	G	A	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=869;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.012;SOR=0.629	GT:AD:DP:GQ:PL	0/1:93,96:189:99:2352,0,2275	18	0	1	0
chr1	11772138	11772138	C	T	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon8:c.C1867T:p.R623W	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0234568591955	.	0.000199681	6.46e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs577901515	1.302e-05	1.094e-05	1.363e-05	1.239e-05	0.0002	7.82e-06	6.2e-06	4.794e-05	2.817e-05	0	0.0001	0	0	0	0.0002	7.601e-06	7.204e-05	0	6.566e-06	6.561e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.31	0.06291	T	-1.62	0.38924	N	0.126	0.11912	-0.9530	0.40450	T	0.012	0.04700	T	7	0.05526045	0.06012	T	0.023457	0.46421	T	0.055	0.15663	0.351	0.34922	0.115124310173	0.11017	0.1464391285986846	0.14565	0.347619180383	0.36649	.	.	.	0.04853	0.28044	T	-0.368864	0.03651	T	-0.573975	0.15087	T	0.0920390349003089	0.11457	T	0.537046	0.18049	T	0.0743427	0.16675	0.062403396	0.12205	0.0743427	0.16675	0.062403396	0.12205	-3.348	0.14364	T	.	.	0.124	0.26232	B	.	.	2.237443	0.28571	17.84	0.98616744270256262	0.43718	0.02056	0.06139	N	AEFDGBHCI	0.032667	0.03732	N	-0.984884023546027	0.08926	0.4204276	-1.14263621282406	0.06901	0.3337767	0.95604614203383	0.28224	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	-2.02	0.06981	-0.060000	0.11669	-0.011000	0.13060	-1.416000	0.01129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4081:0.2293:0.3626:0.0	4.375	0.10700	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1866.33	97	chr1	11772138	.	C	T	1866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.746;DP=1142;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.97;SOR=0.766	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1880,0,1238	18	0	1	0
chr1	11952665	11952665	A	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon5:c.A509T:p.E170V,PLOD1:NM_001316320:exon6:c.A650T:p.E217V	Ehlers-Danlos syndrome, type VI, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	498024	not_provided|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MedGen:C3661900|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	.	0.00599042	0.0033	0	8.645e-05	0	0	0	0.0022	0.0242	0.0029042	449	154602	rs554232128	0.0014	0.0014	0.0008	0.0020	0.0221	0.0014	0.0014	0.0213	0.0210	2.987e-05	0	0.0001	0	1.872e-05	0.0005	5.935e-05	0.0017	0.0221	0.0009	0.0009	0.0004	0.0014	0.0274	0.0008	0.0007	0.0236	0.0221	0	0	0.0001	0.0003	0.0002	0	0	2.941e-05	0	0.0274	0.027	0.49117	D	0.006	0.70582	D	0.215	0.30128	B	0.138	0.33406	B	0.009788	0.30200	N	0.353701	0.997421	0.43877	D	1.845	0.48678	L	2.41	0.20664	T	-3.86	0.73477	D	0.522	0.55193	-1.1084	0.03210	T	0.043	0.18493	T	10	0.00757882	0.00172	T	.	.	.	0.078	0.22779	0.294	0.25720	0.302793454619	0.29890	0.7149905807501374	0.71442	0.269075790614	0.29422	0.366970956326	0.20396	T	0.159804	0.81468	T	-0.440752	0.01280	T	-0.388301	0.34751	T	0.0717922718578291	0.08900	T	0.825517	0.48813	T	0.13414034	0.31177	0.18524705	0.41626	0.1423086	0.32754	0.1355079	0.32441	-9.871	0.73136	D	0.22439127077606708	0.30303	0.228	0.46013	B	.;.;.	.;.;.	3.999307	0.58918	24.0	0.98901941904488877	0.48199	0.87829	0.47504	D	AEFGBCI	0.772957	0.70712	D	0.0787784876109116	0.45473	2.803299	0.165413600809076	0.47964	3.018943	0.999940010306035	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.61	3.46	0.38718	4.385000	0.59379	6.814000	0.56655	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9027:0.0:0.0973:0.0	9.476	0.38034	787	0.46738	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003049	0.007576	0.02632	2081.33	43	chr1	11952665	.	A	T	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=768;ExcessHet=0;FS=5.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.037;SOR=1.187	GT:AD:DP:GQ:PL	0/1:58,79:137:99:2095,0,1556	18	0	1	0
chr1	13225243	13225243	T	C	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.A478G:p.M160V,PRAMEF22:NM_001100631:exon2:c.A478G:p.M160V	.	409	1112	1	0	0	1	0.000449438	.	.	.	2757939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779657548	0.0002	0.0012	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.983e-05	0.0001	3.827e-05	2.519e-05	1.872e-05	0	0.0002	0.0001	0.0001	0.0005	0.0008	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0006	0.0001	0	0.0003	0	0	9.409e-05	0	0.0009	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	0.498401	0.05077	N	1.400690	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9752	0.36082	T	0.017	0.06998	T	10	0.046002	0.03739	T	0.033126	0.54762	D	.	.	0.394	0.41935	0.0297737177859	0.01360	0.11683826247773464	0.11611	.	.	0.637036979198	0.58143	T	0.00909	0.08297	T	-0.421894	0.01664	T	-0.843798	0.01043	T	0.0395172559159216	0.03603	T	.	.	.	0.079071544	0.18045	0.09601313	0.22796	0.079071544	0.18044	0.09601313	0.22796	-3.225	0.12788	T	.	.	0.057	0.00604	B	.	.	-0.974571	0.00808	0.027	0.28247617585797591	0.01441	0.00139	0.00851	N	AEFI	0.020697	0.00843	N	-1.69741894781234	0.00851	0.03681256	-1.76423220620915	0.00881	0.03936638	1.29799802374372E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	-0.973	0.09771	-2.108000	0.01423	-15.955000	0.00333	-2.399000	0.00295	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.23:0.0:0.4466:0.3235	1.869	0.03010	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2377.33	487	chr1	13225243	.	T	C	2377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=7087;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.61;MQRankSum=-6.559;QD=3.65;ReadPosRankSum=0.813;SOR=0.7	GT:AD:DP:GQ:PL	0/1:498,153:651:99:2391,0,13100	18	0	1	0
chr1	13782626	13782626	C	G	exonic	PRDM2	.	nonsynonymous SNV	PRDM2:NM_001007257:exon3:c.C4228G:p.L1410V,PRDM2:NM_012231:exon8:c.C4831G:p.L1611V,PRDM2:NM_015866:exon8:c.C4831G:p.L1611V	.	.	.	.	.	.	.	.	.	.	.	2758615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00874223823712	0.0002	.	9.923e-05	0	0	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs150007555	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.988e-05	8.945e-05	3.826e-05	2.519e-05	0	0	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.161e-05	6.718e-05	0.0002	0.0001	4.81e-05	0	0	0	0	0	0	0.0002	0	0	0.003	0.72154	D	0.764	0.04571	T	0.587	0.38961	P	0.104	0.31021	B	0.053521	0.22801	N	0.435365	0.819914	0.58761	D	2.395	0.69210	M	4.71	0.01655	T	-0.79	0.22508	N	0.314	0.43803	-0.9491	0.41126	T	0.011	0.04042	T	10	0.15672222	0.29511	T	0.008742	0.23074	T	0.083	0.24192	.	.	0.220282294035	0.21616	0.05177579830480218	0.05119	0.190335887594	0.21353	0.366876602173	0.20382	T	0.068743	0.33535	T	-0.385063	0.02893	T	-0.50618	0.21707	T	0.0486130456465278	0.05254	T	0.890711	0.64041	D	0.10793225	0.25521	0.07762595	0.17308	0.10793225	0.25521	0.07762595	0.17308	-3.355	0.15313	T	.	.	0.108	0.20625	B	.;.;.;.	.;.;.;.	2.158689	0.27497	17.48	0.99376924184683668	0.61715	0.81202	0.40656	D	AEFDGBCIJ	0.190515	0.31775	N	0.0958505162910099	0.46268	2.869884	0.117767010256847	0.45456	2.808582	0.999999982428596	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.07	4.21	0.48984	1.714000	0.37580	2.205000	0.31320	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.562000	0.30459	0.1374:0.7201:0.0:0.1425	7.527	0.26830	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	.	.	.	.	.	.	.	.	0.02632	2700.33	74	chr1	13782626	.	C	G	2700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.476;DP=1497;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=1.17;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,71:146:99:0|1:13782619_A_G:2714,0,2816:13782619	18	0	1	0
chr1	13782632	13782632	G	A	exonic	PRDM2	.	nonsynonymous SNV	PRDM2:NM_001007257:exon3:c.G4234A:p.V1412M,PRDM2:NM_012231:exon8:c.G4837A:p.V1613M,PRDM2:NM_015866:exon8:c.G4837A:p.V1613M	.	.	.	.	.	.	.	.	.	.	.	2758616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00665569449173	0.0002	.	9.925e-05	0	0	0	0	0.0002	0	6.067e-05	0.0001035	16	154602	rs145822900	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.988e-05	8.944e-05	3.826e-05	2.519e-05	0	0	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.141e-05	7.697e-05	0.0002	0.0001	9.62e-05	0	0	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.055	0.46862	T	0.28	0.32073	B	0.034	0.22546	B	0.003180	0.35330	N	0.275088	0.876242	0.81001	D	2.295	0.65404	M	4.63	0.01817	T	-0.86	0.24898	N	0.13	0.15046	-1.0733	0.08702	T	0.018	0.07376	T	10	0.14585242	0.27661	T	0.006656	0.17557	T	0.045	0.12272	.	.	0.268702046668	0.26493	0.10635159219185651	0.10565	0.189168602932	0.21232	0.312758475542	0.12324	T	0.086589	0.37758	T	-0.445733	0.01196	T	-0.593328	0.13380	T	0.051034078001976	0.05680	T	0.787021	0.42853	T	0.07168237	0.15887	0.09011935	0.21114	0.07168237	0.15887	0.09011935	0.21113	-4.804	0.36938	T	.	.	0.110	0.21239	B	.;.;.;.	.;.;.;.	2.046349	0.26014	16.97	0.99518364285010585	0.69100	0.56148	0.30043	D	AEFDGBCIJ	0.068700	0.13564	N	-0.334012840803647	0.27864	1.532218	-0.380095224436982	0.25591	1.408273	0.999999982131105	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.61	2.74	0.31352	1.075000	0.30328	3.380000	0.37995	-0.113000	0.14837	0.780000	0.29473	1.000000	0.68203	0.540000	0.29938	0.2184:0.0:0.7816:0.0	10.098	0.41659	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	0.001009	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2723.33	74	chr1	13782632	.	G	A	2723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=1495;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=1.55;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,71:144:99:0|1:13782619_A_G:2737,0,2757:13782619	18	0	1	0
chr1	15506997	15506997	G	A	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon4:c.C532T:p.R178C,CASP9:NM_032996:exon4:c.C283T:p.R95C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00957248821196	0.0016	0.00159744	0.0006	0.0066	8.645e-05	0	0	1.503e-05	0.0011	6.056e-05	0.0005433	84	154602	rs145588217	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0062	0.0059	0.0069	0.0004	3.826e-05	0	0	0.0002	4.317e-05	0.0006	3.478e-05	0.0020	0.0020	0.0021	0.0018	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0007	0	0	0	0	2.94e-05	0.0028	0	0.033	0.53172	D	0.035	0.52389	D	0.925	0.51395	P	0.498	0.47596	P	0.379822	0.04413	N	1.292450	1	0.08975	N	1.445	0.36358	L	1.96	0.22270	T	-2.42	0.60188	N	0.151	0.15888	-0.9117	0.46645	T	0.043	0.18451	T	10	0.0049248636	0.00105	T	0.009572	0.25039	T	0.146	0.38789	.	.	0.301122078929	0.29733	0.49368297861306015	0.49289	0.296725836107	0.32059	0.223914712667	0.01548	T	0.171761	0.52000	T	-0.527526	0.00397	T	-0.526945	0.19593	T	0.0249703803695932	0.01269	T	0.80432	0.69109	T	0.17559114	0.38426	0.21521953	0.46103	0.17559114	0.38426	0.21521953	0.46102	-3.36	0.25068	T	.	.	0.092	0.15832	B	.;.;.;.;.	.;.;.;.;.	0.155225	0.05468	1.935	0.90671817101711094	0.19923	0.02340	0.06688	N	AEFDGBI	0.085966	0.17428	N	-1.44815624373047	0.02231	0.09830712	-1.71459605001722	0.01074	0.04823391	0.999999999951018	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.719019	0.79029	0	0.683762	0.67416	0	.	.	5.92	-11.8	0.00026	-0.747000	0.04929	-2.706000	0.03446	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0907:0.4366:0.3372:0.1355	6.935	0.23638	917	0.20147	Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic 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	0.003024	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr1	15506997	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=763;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.489;SOR=0.623	GT:AD:DP:GQ:PL	0/1:78,50:128:99:1115,0,1725	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	0/1:538,69:607:99:.:.:620,0,15919:.	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	0/1:713,105:818:99:.:.:782,0,20434:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:645,259:904:99:6763,0,22662	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/1:747,123:870:99:1122,0,28863	13	0	6	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	0/1:543,157:700:99:.:.:3112,0,19513:.	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	0/1:338,335:673:99:8476,0,10635	0	0	19	0
chr1	16574684	16574684	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	398	1074	4	0	46	50	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00797655148855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs9727080	5.123e-05	0.0005	4.13e-05	6.127e-05	0.0003	4.175e-05	3.823e-05	0.0002	0.0002	0	2.258e-05	0.0002	2.561e-05	0	0	2.904e-05	0.0001	0.0003	0.0003	0.0008	0.0003	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	2.571e-05	0	0.0002	0.0003	0	0	0.0036	0.0003	0.0010	0.0027	.	.	.	0.21	0.30729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.0665735	0.09150	T	0.007977	0.21162	T	.	.	.	.	0.0401082797425	0.02173	0.00674169254771932	0.00641	.	.	0.538289189339	0.44204	T	.	.	.	-0.436369	0.01359	T	-0.86459	0.00795	T	.	.	.	0.752925	0.41649	T	.	.	.	.	.	.	.	.	-2.864	0.08788	T	.	.	0.100	0.16973	B	.;.	.;.	0.557644	0.09259	6.044	0.25570981217854921	0.01185	0.00230	0.01288	N	AEFBI	.	.	.	.	.	.	.	.	.	6.52510455814513E-5	0.04366	0.322412	0.05557	0	0.244055	0.04846	0	0.175069	0.04249	0	0.370666	0.05837	0	.	.	0.721	0.721	0.17373	0.107000	0.15212	-4.380000	0.02186	-2.692000	0.00212	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.3188:0.6812	4.802	0.12668	442	0.79946	.;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	.	.	.	.	.	.	.	.	0.05556	397.58	143	chr1	16574684	.	G	A	397.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.57;DP=2761;ExcessHet=0.119;FS=0.964;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=42.96;MQRankSum=-8.013;QD=0.57;ReadPosRankSum=-0.678;SOR=0.848	GT:AD:DP:GQ:PL	0/1:241,37:278:99:357,0,6981	16	0	2	1
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	0/1:329,42:371:99:328,0,8960	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|1:61,14:75:99:0|1:16579293_A_G:404,0,2506:16579293	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|1:61,14:75:99:0|1:16579293_A_G:404,0,2506:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,9:70:99:.:.:172,0,1878:.	6	0	13	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	0/1:60,19:79:99:425,0,1938	1	7	11	0
chr1	20941650	20941650	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.A1336G:p.I446V,EIF4G3:NM_001198801:exon11:c.A1333G:p.I445V,EIF4G3:NM_001198802:exon12:c.A1354G:p.I452V,EIF4G3:NM_001198803:exon12:c.A1369G:p.I457V	.	420	1075	25	2	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0011	0.00319489	0.0025	0.0002	8.64e-05	0	0.0002	0.0011	0	0.0142	0.0022574	349	154602	rs141254078	0.0015	0.0015	0.0011	0.0020	0.0143	0.0015	0.0015	0.0137	0.0134	0.0002	0.0002	0.0001	2.519e-05	7.488e-05	0.0071	0.0008	0.0015	0.0143	0.0012	0.0012	0.0010	0.0014	0.0182	0.0010	0.0010	0.0152	0.0140	0.0001	0	0.0002	0	0	0	0.0136	0.0012	0.0005	0.0182	0.37	0.11550	T	0.657	0.07617	T	0.001	0.07471	B	0.009	0.14300	B	0.098616	0.19972	N	0.568044	0.998948	0.45735	D	0	0.06538	N	2.07	0.20387	T	0.28	0.04233	N	0.044	0.03069	-1.0187	0.24139	T	0.017	0.07045	T	10	0.0032545626	0.00056	T	.	.	.	0.037	0.09474	.	.	0.179529687257	0.17594	0.0927177310028373	0.09203	0.120064589103	0.13520	0.295090973377	0.09671	T	0.019541	0.15549	T	-0.645134	0.00078	T	-0.68779	0.06517	T	0.0143492687051511	0.00287	T	0.560444	0.22396	T	0.013733779	0.00068	0.021160658	0.00177	0.013733779	0.00068	0.021160658	0.00177	-2.383	0.06489	T	.	.	0.060	0.01934	B	.;.;.;.;.	.;.;.;.;.	0.890678	0.12639	9.166	0.55373431277798246	0.05329	0.63940	0.32247	D	AEFGBI	0.081120	0.16412	N	-0.732462532457361	0.15114	0.7588709	-0.602388170348881	0.19431	1.042507	2.90097384826224E-4	0.06355	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.02	-0.899	0.10012	0.509000	0.22414	-1.154000	0.06172	0.665000	0.62972	0.998000	0.41325	0.001000	0.17328	0.952000	0.50033	0.2543:0.1642:0.2931:0.2884	0.383	0.00371	686	0.59327	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.100000	0.000000	0.003049	0.011364	0.02632	1817.33	36	chr1	20941650	.	T	C	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.899;DP=775;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.11;SOR=0.595	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1831,0,2078	18	0	1	0
chr1	24161574	24161574	C	G	exonic	IFNLR1	.	nonsynonymous SNV	IFNLR1:NM_170743:exon4:c.G478C:p.V160L,IFNLR1:NM_173064:exon4:c.G478C:p.V160L,IFNLR1:NM_173065:exon4:c.G478C:p.V160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.011022475544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.53172	T	0.058	0.46182	T	0.007	0.43231	B	0.004	0.42815	B	0.348267	0.13856	N	0.692717	0.982611	0.30008	N	2.3	0.65703	M	0.76	0.49919	T	-2.09	0.53420	N	0.373	0.46274	-0.9146	0.46272	T	0.133	0.44484	T	10	0.19808328	0.35765	T	0.011022	0.28208	T	0.165	0.42395	0.339	0.32979	0.506494895843	0.50287	0.38270766520290667	0.38185	0.230694070643	0.25618	0.489907950163	0.37425	T	0.238976	0.60699	T	-0.0410883	0.45786	T	-0.296797	0.45062	T	0.874874830245972	0.52474	D	0.844016	0.52437	T	0.3952896	0.60405	0.15204021	0.35789	0.3952896	0.60405	0.15204021	0.35789	-5.679	0.43853	T	.	.	0.503	0.65203	A	.;.;.;.;.	.;.;.;.;.	3.270137	0.44761	22.0	0.99139389785679011	0.53491	0.77385	0.38042	D	AEFDBI	0.304561	0.41222	N	-0.11750580907188	0.36629	2.119931	-0.00861694942389329	0.39323	2.32987	0.964851614001406	0.28789	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.586402	0.36253	0	.	.	4.93	3.99	0.45527	2.095000	0.41354	3.260000	0.37085	0.549000	0.26987	0.998000	0.41325	0.998000	0.33993	0.938000	0.47775	0.1907:0.8093:0.0:0.0	10.714	0.45197	518	0.74548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	42.53	34	chr1	24161574	.	C	G	42.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.937;DP=1216;ExcessHet=0;FS=296.233;InbreedingCoeff=-0.0368;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=0.65;SOR=8.254	GT:AD:DP:GQ:PL	0/1:59,18:77:56:56,0,1305	18	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1073.33	33	chr1	26188770	.	A	G	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.555;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.034;SOR=0.618	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1087,0,1130	18	0	1	0
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2453,169,0:26282278	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2453,169,0:26282278	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:26282278_C_T:2453,169,0:26282278	7	4	5	3
chr1	26365020	26365020	G	T	exonic	ZNF683	.	nonsynonymous SNV	ZNF683:NM_001114759:exon4:c.C526A:p.P176T,ZNF683:NM_001307925:exon4:c.C526A:p.P176T,ZNF683:NM_173574:exon4:c.C526A:p.P176T	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00878447779739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.088e-06	2.052e-06	1.382e-06	2.805e-06	0.0004	5.6e-07	1.5e-07	6.248e-05	2.579e-05	0	0	0	0	0	0.0004	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.173	0.44106	T	0.144	0.30426	B	0.053	0.31755	B	0.176153	0.17232	N	0.491933	1	0.08975	N	1.385	0.34509	L	3.03	0.30669	T	-1.76	0.73267	N	0.18	0.23758	-1.0194	0.23910	T	0.043	0.18659	T	10	0.0695374	0.09990	T	0.008784	0.23172	T	0.018	0.03083	0.22	0.14224	0.400613892164	0.39671	0.1873188024499111	0.18649	.	.	0.225670903921	0.01663	T	0.012024	0.10639	T	-0.210189	0.19353	T	-0.539698	0.18325	T	0.121039401956797	0.14531	T	0.706929	0.32075	T	0.06056702	0.12443	0.07961971	0.17939	0.06056702	0.12442	0.07961971	0.17939	-4.411	0.30001	T	.	.	0.312	0.53936	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.733759	0.11029	7.686	0.98676741316540129	0.44554	0.16886	0.19593	N	AEFDBI	0.048497	0.08280	N	-1.00917790210632	0.08412	0.394359	-1.01767875197903	0.09397	0.4672717	0.865925792053994	0.25318	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.49	2.63	0.30420	0.174000	0.16557	3.098000	0.36308	-0.732000	0.03721	0.000000	0.06391	0.853000	0.27411	0.019000	0.11356	0.2157:0.0:0.7843:0.0	6.548	0.21611	342	0.85871	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	757.33	35	chr1	26365020	.	G	T	757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=745;ExcessHet=0;FS=6.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.645;SOR=0.642	GT:AD:DP:GQ:PL	0/1:45,31:76:99:771,0,1326	18	0	1	0
chr1	27006750	27006750	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G472A:p.G158S	.	.	.	.	.	.	.	.	.	.	.	4088150	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0236539478175	.	.	2.477e-05	0	0.0002	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs752260246	1.573e-05	1.573e-05	1.906e-05	1.238e-05	0.0002	1.048e-05	8.75e-06	8.861e-05	6.427e-05	0	0.0002	0.0001	0	0	0	9.892e-06	0	1.159e-05	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.941e-05	0	0	0.079	0.33753	T	0.088	0.40586	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.75	0.26152	T	-4.62	0.79143	D	0.496	0.52918	-0.8505	0.51933	T	0.185	0.53421	T	10	0.60049486	0.66884	D	0.023654	0.46630	T	0.227	0.52620	0.683	0.82078	0.600985507913	0.59780	0.48889514797706396	0.48809	1.22376613677	0.81152	0.569766223431	0.48644	T	0.175033	0.52448	T	-0.262862	0.12567	T	-0.330646	0.41398	T	0.621272325515747	0.37258	D	0.987801	0.95853	D	0.40532866	0.61100	0.34760758	0.60412	0.40532866	0.61100	0.34760758	0.60412	-7.679	0.58862	D	.	.	0.136	0.29642	B	.	.	4.465785	0.69550	25.4	0.99810209708738717	0.89442	0.57978	0.30519	D	AEFDBHCI	0.672198	0.63868	D	0.493492559628235	0.66709	4.985286	0.375086149182116	0.60032	4.186589	0.999999999800979	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.749866	0.98131	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	3.787000	0.55144	5.987000	0.52266	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	19.212	0.93743	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3417.33	41	chr1	27006750	.	C	T	3417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=882;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.014;SOR=0.791	GT:AD:DP:GQ:PL	0/1:112,125:237:99:3431,0,2812	18	0	1	0
chr1	27370960	27370960	G	A	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon5:c.C373T:p.R125C,FCN3:NM_003665:exon6:c.C406T:p.R136C	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.0511410558428	0.0002	.	0.0001	0	8.697e-05	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs142828984	0.0001	0.0001	0.0001	0.0001	0.0002	8.924e-05	8.408e-05	9.757e-05	9.162e-05	0	6.711e-05	0	2.52e-05	0	0.0002	0.0001	0.0001	0.0001	5.918e-05	5.908e-05	3.859e-05	8.071e-05	0.0002	3.079e-05	2.212e-05	2.848e-05	1.86e-05	2.41e-05	0	0	0	0.0002	0.0002	0	7.357e-05	0	0	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.975	0.73362	D	0.175819	0.17241	N	0.451222	0.999892	0.20048	N	4.72	0.99514	H	-2.08	0.86010	D	-7.58	0.95276	D	0.603	0.62103	0.000	0.82266	D	0.759	0.91784	D	10	0.7818458	0.77919	D	0.051141	0.64539	D	0.537	0.80605	.	.	0.869482924268	0.86821	0.8362960841815625	0.83589	0.556748901551	0.52318	0.360099047422	0.19400	T	0.369283	0.73402	T	0.0623492	0.59908	T	0.111463	0.77670	D	0.583051419860008	0.35736	D	0.989679	0.96647	D	0.8697072	0.88838	0.65652937	0.79888	0.8697072	0.88839	0.65652937	0.79889	-9.611	0.71548	D	.	.	0.787	0.76856	P	.;.	.;.	3.515144	0.49250	22.7	0.99642994792175033	0.76756	0.03511	0.08689	N	AEFBI	0.322713	0.42512	N	-0.0217521193037863	0.40873	2.434807	-0.319350912504885	0.27474	1.524753	0.999756396758113	0.42595	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	-1.91	0.07225	-0.465000	0.06757	-1.246000	0.05919	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.4284:0.1352:0.3063:0.13	1.816	0.02913	607	0.67291	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	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	0.000508	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1975.33	34	chr1	27370960	.	G	A	1975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.053;DP=816;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.511;SOR=0.472	GT:AD:DP:GQ:PL	0/1:103,79:182:99:1989,0,2642	18	0	1	0
chr1	30739047	30739047	G	A	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon5:c.C403T:p.P135S	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0068	0.00379393	0.0123	0.0018	0.0084	0	0.0716	0.0162	0.0242	0.0009	0.0067852	1049	154602	rs34101571	0.0092	0.0092	0.0093	0.0090	0.0093	0.0090	0.0090	0.0092	0.0091	0.0015	0.0057	0.0133	0	0.0325	0.0089	0.0093	0.0085	0.0012	0.0081	0.0081	0.0071	0.0093	0.0087	0.0078	0.0076	0.0082	0.0079	0.0019	0	0.0069	0.0121	0	0.0360	0.0306	0.0087	0.0085	0.0014	0.182	0.21801	T	0.231	0.25061	T	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.071834	0.912274	0.36443	D	2.82	0.82106	M	-0.04	0.63240	T	-3.14	0.64019	D	0.442	0.48042	-0.2830	0.75458	T	0.253	0.62281	T	10	0.0086191	0.00195	T	.	.	.	0.508	0.78848	.	.	0.713346928536	0.71084	0.7722297890996368	0.77172	0.451262029509	0.44877	0.497715383768	0.38509	T	0.376112	0.73957	T	-0.131729	0.31217	T	0.0459654	0.73317	D	0.0293732744053332	0.01894	T	0.752425	0.37456	T	0.15051475	0.34262	0.17167628	0.39367	0.15051475	0.34261	0.17167628	0.39366	-2.585	0.06390	T	.	.	0.200	0.42404	B	.	.	3.249846	0.44396	21.9	0.99629821214065184	0.75959	0.79126	0.39151	D	AEFGBHCI	0.502431	0.53485	D	0.297796703602127	0.56036	3.767906	0.219991395826243	0.50956	3.282586	0.999999987528689	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.73	4.81	0.61401	4.314000	0.58957	6.720000	0.56427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.1653:0.8347:0.0	12.726	0.56545	958	0.09170	.	.	.	.	.	rs34101571	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.009537	0.000000	0.050000	0.017241	0.009202	0.011364	0.05263	2302.83	35	chr1	30739047	.	G	A	2302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=786;ExcessHet=0.119;FS=3.334;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.918;SOR=0.476	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1283,0,931	17	0	2	0
chr1	32769726	32769726	C	T	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon5:c.C463T:p.R155C,KIAA1522:NM_001369553:exon5:c.C496T:p.R166C,KIAA1522:NM_020888:exon5:c.C640T:p.R214C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0319225572582	.	.	2.557e-05	0	0.0002	0	0	1.53e-05	0	0	1.94e-05	3	154602	rs779455146	2.942e-05	3.078e-05	3.132e-05	2.751e-05	6.709e-05	2.217e-05	1.97e-05	2.117e-05	1.862e-05	0	6.709e-05	0	2.52e-05	5.62e-05	0	2.968e-05	3.314e-05	1.159e-05	3.292e-05	3.287e-05	3.862e-05	2.696e-05	0.0001	1.263e-05	7.99e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.416e-05	0	0	0.001	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.001368	0.39242	N	0.101468	0.891231	0.30697	N	2.215	0.62545	M	1.49	0.31470	T	-3.84	0.72240	D	0.5	0.53357	-0.9415	0.42378	T	0.150	0.47804	T	10	0.32255054	0.49603	T	0.031923	0.53888	D	0.109	0.30843	0.204	0.11936	0.193917141947	0.19028	0.39003021998428833	0.38918	0.161508369923	0.18230	0.635208368301	0.57884	T	0.126939	0.45365	T	-0.209576	0.19440	T	-0.341846	0.40135	T	0.74777352809906	0.43162	D	0.938506	0.76886	D	0.3170192	0.54387	0.21379304	0.45903	0.3170192	0.54387	0.21379304	0.45902	-9.309	0.69663	D	.	.	0.687	0.72438	P	.;.;.	.;.;.	4.074420	0.60556	24.2	0.99538849963727849	0.70336	0.61500	0.31502	D	ALL	0.259482	0.37782	N	0.260671983670777	0.54168	3.583157	0.16273945350973	0.47820	3.006639	0.999999999999961	0.74766	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.699875	0.68795	0	.	.	5.05	1.79	0.23992	0.463000	0.21683	0.029000	0.13704	0.549000	0.26987	0.985000	0.35982	0.001000	0.17328	0.703000	0.34233	0.5353:0.4646:0.0:0.0	12.832	0.57136	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	679.33	33	chr1	32769726	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.751;DP=656;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.328;SOR=0.607	GT:AD:DP:GQ:PL	0/1:17,28:45:99:693,0,417	18	0	1	0
chr1	32942286	32942286	C	T	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon7:c.G1576A:p.G526S,RNF19B:NM_001300826:exon7:c.G1576A:p.G526S,RNF19B:NM_153341:exon7:c.G1579A:p.G527S	.	.	.	.	.	.	.	.	.	.	.	2395402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0203703033794	7.7e-05	0.000199681	9.071e-05	9.612e-05	0	0.0001	0	0.0001	0	0	0.00011	17	154602	rs201645488	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	0	0	0.0001	0	0	0.0004	0.0001	1.16e-05	6.567e-05	6.563e-05	6.426e-05	6.715e-05	8.821e-05	3.515e-05	2.615e-05	3.762e-05	2.575e-05	7.221e-05	0	6.541e-05	0	0	0	0	8.821e-05	0	0	0.453	0.09075	T	1.0	0.01155	T	0.816	0.45573	P	0.06	0.26717	B	0.000003	0.62929	D	0.000000	0.997359	0.43821	D	-0.9	0.01342	N	1.98	0.22067	T	0.26	0.04613	N	0.612	0.62866	-1.0784	0.07661	T	0.025	0.10910	T	10	0.11999062	0.22719	T	0.02037	0.42951	T	0.121	0.33580	.	.	0.102598925029	0.09809	0.5833845363346403	0.58267	0.982007380805	0.73772	0.597666323185	0.52576	T	0.055513	0.30028	T	-0.403864	0.02184	T	-0.5436	0.17945	T	0.0773770021980084	0.09647	T	0.90021	0.65300	D	0.14169976	0.32640	0.14071149	0.33533	0.14169976	0.32639	0.14071149	0.33532	-2.082	0.07901	T	.	.	0.126	0.26607	B	.;.;.	.;.;.	4.557103	0.71774	25.7	0.58110542363825368	0.05919	0.93217	0.57631	D	AEFDBI	0.394002	0.47143	N	-0.537959280218093	0.20862	1.103004	-0.403713767944246	0.24887	1.365433	0.999913092908299	0.45857	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.11	4.2	0.48814	3.388000	0.52247	7.653000	0.63809	-0.202000	0.08738	0.999000	0.42656	1.000000	0.68203	0.163000	0.20749	0.0:0.9268:0.0:0.0732	14.059	0.64313	546	0.72524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1581.33	35	chr1	32942286	.	C	T	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.376;SOR=0.69	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1595,0,1214	18	0	1	0
chr1	33600967	33600967	G	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon44:c.C6754T:p.R2252W,CSMD2:NM_052896:exon45:c.C6760T:p.R2254W	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0239016124758	0.0055	0.000599042	0.0042	0.0012	0.0006	0	0.0042	0.0065	0.0044	0.0018	0.0043208	668	154602	rs114879806	0.0058	0.0058	0.0059	0.0058	0.0069	0.0057	0.0057	0.0068	0.0068	0.0012	0.0006	0.0002	0	0.0049	0.0023	0.0069	0.0044	0.0020	0.0042	0.0041	0.0043	0.0040	0.0075	0.0039	0.0038	0.0070	0.0068	0.0014	0	0.0009	0	0	0.0032	0	0.0075	0.0024	0.0017	0.002	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.925	0.65999	D	0.000932	0.41028	D	0.206128	0.956343	0.26301	N	2.08	0.57402	M	2.26	0.17596	T	-1.82	0.46503	N	0.49	0.56489	-1.0859	0.06245	T	0.060	0.25163	T	10	0.01118052	0.00245	T	0.023902	0.46878	T	0.203	0.48915	.	.	0.468085328875	0.46433	0.5838479591863995	0.58313	.	.	0.387901186943	0.23374	T	0.088275	0.38124	T	-0.439554	0.01301	T	-0.391841	0.34337	T	0.02154751934512	0.00858	T	0.935506	0.79983	D	0.10672209	0.25235	0.11145735	0.26886	0.10672209	0.25235	0.11145735	0.26885	-8.054	0.64317	D	.	.	0.155	0.35931	B	.;.;.;.;.	.;.;.;.;.	3.702630	0.52811	23.3	0.99905365712701089	0.97651	0.88662	0.48696	D	AEFGBI	0.650136	0.62435	D	0.1706187858592	0.49791	3.175717	0.0461001586834716	0.41883	2.523815	0.123182889209089	0.16931	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	2.68	0.30839	2.705000	0.46795	2.502000	0.33033	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.249000	0.23237	0.0:0.2206:0.367:0.4124	8.710	0.33541	470	0.78111	.;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	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1179.33	33	chr1	33600967	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=742;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.442;SOR=0.886	GT:AD:DP:GQ:PL	0/1:66,44:110:99:1193,0,1644	18	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1333	171.76	77	chr1	33864375	.	G	C	171.76	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.921;DP=2276;ExcessHet=0.7564;FS=275.066;InbreedingCoeff=-0.1985;MLEAC=5;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.121;SOR=11.912	GT:AD:DP:GQ:PL	0/1:68,27:95:14:14,0,1735	11	0	4	4
chr1	35114882	35114882	A	G	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.A2827G:p.K943E,ZMYM1:NM_001289089:exon10:c.A2995G:p.K999E,ZMYM1:NM_024772:exon10:c.A3052G:p.K1018E,ZMYM1:NM_001289088:exon11:c.A3052G:p.K1018E,ZMYM1:NM_001289090:exon11:c.A3052G:p.K1018E,ZMYM1:NM_001289091:exon11:c.A1972G:p.K658E	.	.	.	.	.	.	.	.	.	.	.	3634300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0145323836706	0.0003	0.000199681	4.986e-05	0.0001	0	0	0	7.513e-05	0	0	4.53e-05	7	154602	rs201597322	5.638e-05	5.609e-05	6.419e-05	4.847e-05	0.0002	4.633e-05	4.258e-05	5.646e-05	5.217e-05	3.012e-05	2.273e-05	0	0	0	0.0002	6.953e-05	1.665e-05	1.175e-05	3.938e-05	3.937e-05	5.139e-05	2.684e-05	8.82e-05	1.714e-05	1.128e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.049	0.39820	D	0.32	0.19131	T	0.798	0.44840	P	0.3	0.41053	B	0.003704	0.34585	N	0.131910	0.949775	0.26526	N	0.895	0.22405	L	2.47	0.14783	T	-0.84	0.22944	N	0.317	0.35727	-1.1040	0.03640	T	0.056	0.23488	T	9	0.10571444	0.19555	T	0.014532	0.34707	T	0.043	0.11576	.	.	0.141422826196	0.13715	0.20449192966427623	0.20366	0.438700815686	0.43897	0.550615906715	0.45944	T	0.006745	0.06169	T	-0.361509	0.04045	T	-0.52039	0.20254	T	0.0687751949719565	0.08478	T	0.761624	0.38671	T	0.16046257	0.35988	0.19411898	0.43018	0.16046257	0.35988	0.19411898	0.43017	-4.227	0.27141	T	.	.	0.105	0.19194	B	.;.;.;.	.;.;.;.	3.534099	0.49602	22.8	0.99750648662494712	0.84228	0.65600	0.32792	D	AEGBI	0.133870	0.25368	N	-0.0479707727875421	0.39693	2.34491	-0.0685844339998552	0.36697	2.138957	0.921132624932967	0.26660	0.653281	0.48532	0	0.588066	0.40923	0	0.670488	0.60580	0	0.669	0.65921	0	.	.	4.45	3.31	0.37025	1.302000	0.33063	3.778000	0.39779	0.691000	0.84096	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.8267:0.1733:0.0:0.0	9.811	0.39990	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	37	chr1	35114882	.	A	G	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.518;SOR=0.695	GT:AD:DP:GQ:PL	0/1:94,63:157:99:1553,0,2357	18	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	CCA	C	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:99:0|1:41382209_CCA_C:172,0,405:41382209	17	0	2	0
chr1	41382211	41382211	A	0	exonic	FOXO6	.	.	.	.	1155	328	31	5	3	44	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	197.34	19	chr1	41382211	.	A	*	197.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.38;DP=293;ExcessHet=0.5552;FS=21.312;InbreedingCoeff=-0.2235;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=1.38;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,5:15:99:0|1:41382209_CCA_C:172,0,405:41382209	3	0	2	14
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	155.54	19	chr1	41382212	.	G	GGGAC	155.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=288;ExcessHet=0;FS=9.26;InbreedingCoeff=-0.043;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.142;SOR=3.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,5:16:99:0|1:41382209_CCA_C:169,0,447:41382209	18	0	1	0
chr1	41580099	41580099	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C4699T:p.P1567S,HIVEP3:NM_024503:exon4:c.C4699T:p.P1567S	.	419	1086	16	1	0	18	0.00821918	.	.	.	2812715	not_provided|HIVEP3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	0.00347639636376	0.0035	0.000998403	0.0029	0.0011	0.0012	0	0.0006	0.0031	0.0022	0.0068	0.0027619	427	154602	rs34970884	0.0035	0.0035	0.0034	0.0037	0.0078	0.0035	0.0034	0.0073	0.0071	0.0007	0.0008	0.0008	5.038e-05	0.0008	0.0061	0.0037	0.0031	0.0078	0.0022	0.0022	0.0025	0.0018	0.0050	0.0020	0.0019	0.0034	0.0029	0.0009	0	0.0012	0.0014	0	0.0003	0.0034	0.0034	0.0028	0.0050	0.153	0.28148	T	0.375	0.16473	T	0.787	0.44504	P	0.603	0.50895	P	0.002498	0.36462	N	0.126422	0.912533	0.36450	D	1.39	0.34934	L	3.34	0.06291	T	-0.41	0.14000	N	0.45	0.49874	-1.0668	0.10131	T	0.028	0.12147	T	10	0.005597472	0.00124	T	0.003476	0.07847	T	0.075	0.21907	.	.	0.353761421236	0.34979	0.14998840616608533	0.14920	0.664536729555	0.59094	0.405171245337	0.25787	T	0.112181	0.42825	T	-0.5147	0.00472	T	-0.507262	0.21597	T	0.026973808853685	0.01540	T	0.772323	0.40326	T	0.07413368	0.16614	0.09711619	0.23102	0.07413368	0.16614	0.09711619	0.23101	-3.349	0.14378	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	3.120673	0.42134	21.5	0.99357404352292822	0.60862	0.98970	0.89343	D	AEFDGBI	0.531179	0.55156	D	0.334661860369669	0.57934	3.963064	0.411819826435101	0.62301	4.443145	0.999994744115087	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	4.294000	0.58840	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.155:0.845:0.0	13.638	0.61707	485	0.77085	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1987.33	33	chr1	41580099	.	G	A	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=944;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.59;SOR=0.866	GT:AD:DP:GQ:PL	0/1:80,73:153:99:2001,0,2253	18	0	1	0
chr1	45514602	45514602	C	G	exonic	PRDX1	.	nonsynonymous SNV	PRDX1:NM_001202431:exon5:c.G419C:p.R140P,PRDX1:NM_002574:exon5:c.G419C:p.R140P,PRDX1:NM_181696:exon5:c.G419C:p.R140P,PRDX1:NM_181697:exon5:c.G419C:p.R140P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.0357939352272	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	.	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.049103	1	0.81001	D	5.065	0.99903	H	1.31	0.35405	T	-6.81	0.93475	D	0.961	0.97095	0.315	0.87788	D	0.453	0.78627	T	10	0.92177796	0.91530	D	0.035794	0.56579	D	0.725	0.90324	0.761	0.88972	0.878521262842	0.87733	0.9139644431339315	0.91371	0.365701277882	0.38159	0.76650249958	0.76900	T	0.568159	0.86371	D	0.30087	0.83038	D	0.194402	0.82818	D	0.999652981758118	0.98346	D	0.861914	0.55630	D	0.9911237	0.99820	0.98853254	0.99967	0.9911237	0.99820	0.98853254	0.99967	-16.127	0.97945	D	.	.	0.998	0.97401	P	.;.;.;.;.	.;.;.;.;.	7.389465	0.96466	36	0.99690109800269366	0.79842	0.96841	0.71229	D	AEFDBCI	0.976325	0.99667	D	1.1372516069492	0.98767	19.30819	1.03634654526111	0.99214	21.26254	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	5.925000	0.69783	5.830000	0.50156	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.349	0.98808	207	0.91931	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;.;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin 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	240.33	36	chr1	45514602	.	C	G	240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-0.803;SOR=0.883	GT:AD:DP:GQ:PL	0/1:29,12:41:99:254,0,722	18	0	1	0
chr1	52357855	52357855	C	T	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon14:c.G1505A:p.R502Q,CC2D1B:NM_032449:exon14:c.G1523A:p.R508Q	.	.	.	.	.	.	.	.	.	.	.	4115975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.0096058816662	.	.	8.877e-06	0	0	0	0	0	0	9.388e-05	6.5e-06	1	154602	rs777052462	2.58e-05	2.941e-05	1.384e-05	3.792e-05	0.0004	1.903e-05	1.662e-05	0.0002	0.0001	0	0	0	0	0	0.0004	1.272e-05	3.381e-05	0.0002	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	1.0	0.00964	T	1.0	0.01155	T	0.001	0.12996	B	0.0	0.04355	B	0.124001	0.18897	N	0.565353	1	0.81001	D	-2.25	0.00109	N	1.38	0.34050	T	0.93	0.01551	N	0.146	0.14763	-1.0592	0.11956	T	0.026	0.11043	T	10	0.022866994	0.00582	T	0.009606	0.25130	T	0.040	0.10527	0.19	0.10039	0.287603790349	0.28378	0.13300774292937942	0.13224	0.0300541279778	0.03099	0.20254984498	0.00534	T	2.5E-4	0.00056	T	-0.440448	0.01286	T	-0.591014	0.13578	T	0.0142567609181737	0.00282	T	0.717128	0.34485	T	0.011344288	0.00016	0.024062969	0.00421	0.011344288	0.00016	0.024062969	0.00421	-2.035	0.04362	T	.	.	0.058	0.01059	B	.;.	.;.	1.225225	0.16193	12.38	0.22750258886402247	0.00930	0.15169	0.18778	N	AEFDBCI	0.034418	0.04260	N	-0.973885580834458	0.09164	0.4325936	-0.778253725107543	0.15029	0.7883225	0.0399471365878009	0.14416	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	2.99	0.33673	2.804000	0.47628	3.448000	0.38427	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.1603:0.0:0.8397	6.78	0.22825	355	0.85216	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	2998.81	34	chr1	52357855	.	C	T	2998.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.6;SOR=0.866	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3026,293,0	18	1	0	0
chr1	62841450	62841450	A	G	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon10:c.A1112G:p.K371R,ATG4C:NM_178221:exon10:c.A1112G:p.K371R	.	457	1048	16	1	0	18	0.00851466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.013894531389	0.0004	0.000599042	0.0010	0.0001	0.0009	0	0.0009	0.0010	0.0022	0.0020	0.0008667	134	154602	rs138011372	0.0008	0.0009	0.0008	0.0009	0.0125	0.0008	0.0008	0.0102	0.0094	0.0002	0.0011	0.0004	0.0001	0.0007	0.0125	0.0007	0.0013	0.0021	0.0010	0.0010	0.0008	0.0011	0.0017	0.0008	0.0008	0.0010	0.0008	0.0001	0.0329	0.0014	0.0009	0.0002	0.0013	0.0068	0.0008	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.78	0.19475	N	1.05	0.39990	T	1.36	0.00878	N	0.637	0.66358	-1.0649	0.10572	T	0.027	0.11397	T	10	0.011946738	0.00259	T	0.013895	0.33629	T	0.212	0.50341	.	.	0.49590494691	0.49224	0.51496311029059	0.51419	0.0920708205007	0.10393	0.753965497017	0.75031	T	0.067743	0.33280	T	-0.36696	0.03750	T	-0.306365	0.44049	T	0.0461026138893786	0.04802	T	0.835916	0.50694	T	0.3004051	0.52941	0.14274578	0.33949	0.3004051	0.52941	0.14274578	0.33948	-2.933	0.09477	T	.	.	0.130	0.27998	B	.;.	.;.	3.547129	0.49846	22.8	0.16103080468087305	0.00419	0.97005	0.72142	D	AEFCI	0.925333	0.90471	D	-0.170844177913158	0.34351	1.959726	0.083826740966658	0.43736	2.669205	0.999923380092343	0.46280	0.743674	0.98306	0	0.630245	0.54622	0	0.709663	0.75317	0	0.584449	0.35598	0	.	.	5.53	5.53	0.82530	7.153000	0.77018	11.268000	0.91307	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.649	0.76836	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.003049	0.000000	0.02632	482.33	33	chr1	62841450	.	A	G	482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.338;DP=620;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.07;SOR=0.591	GT:AD:DP:GQ:PL	0/1:21,24:45:99:496,0,475	18	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K,CRYZ:NM_001130043:exon8:c.G826A:p.E276K,CRYZ:NM_001889:exon9:c.G928A:p.E310K,CRYZ:NM_001130042:exon10:c.G928A:p.E310K	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.000000	0.011696	0.000000	0.008621	0.006098	0.015152	0.07895	3529.79	37	chr1	74706358	.	C	T	3529.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.264;DP=910;ExcessHet=0.3672;FS=1.343;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.42;SOR=0.749	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1280,0,1022	16	0	3	0
chr1	90940524	90940524	T	C	exonic	ZNF644	.	nonsynonymous SNV	ZNF644:NM_201269:exon3:c.A830G:p.D277G	Myopia 21, autosomal dominant, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	3927808	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0183583682694	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs527881655	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0001	0.0003	0.0003	2.987e-05	0	0	0	0	0.0007	0.0002	0.0002	0.0004	4.597e-05	4.593e-05	7.71e-05	1.343e-05	0.0002	2.108e-05	1.526e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0.0002	0.144	0.25255	T	0.162	0.31225	T	0.007	0.14184	B	0.004	0.10090	B	0.000029	0.55875	D	0.155973	0.998631	0.81001	D	1.355	0.33814	L	6.29	0.00558	T	-1.33	0.33197	N	0.209	0.23884	-0.6675	0.61941	T	0.001	0.00222	T	10	0.052737862	0.05355	T	0.018358	0.40397	T	0.209	0.49871	.	.	0.176862962021	0.17281	0.36427881243997035	0.36341	0.314280072756	0.33708	0.486402064562	0.36940	T	0.020613	0.16197	T	-0.384507	0.02917	T	-0.485547	0.23858	T	0.0750437208045543	0.09341	T	0.89891	0.64583	D	0.1079019	0.25514	0.1388261	0.33143	0.1079019	0.25514	0.1388261	0.33142	-4.011	0.23968	T	.	.	0.093	0.18910	B	.;.	.;.	3.413014	0.47354	22.4	0.96787347404300472	0.31098	0.92514	0.55890	D	AEFBI	0.256979	0.37580	N	-0.194807286067018	0.33350	1.891078	0.0103236796029074	0.40194	2.394863	0.995948480367171	0.34425	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.79	5.79	0.91751	4.723000	0.61658	4.281000	0.42880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.072:0.0:0.928	10.462	0.43770	897	0.25382	.;.	.	.	.	.	.	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	1881.33	38	chr1	90940524	.	T	C	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.945;DP=805;ExcessHet=0;FS=6.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.077;SOR=0.684	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1895,0,2341	18	0	1	0
chr1	96804787	96804787	C	T	exonic	PTBP2	.	nonsynonymous SNV	PTBP2:NM_001300985:exon9:c.C907T:p.L303F,PTBP2:NM_001300988:exon9:c.C907T:p.L303F,PTBP2:NM_001300987:exon10:c.C940T:p.L314F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0928554283879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10378	T	0.74	0.05000	T	0.89	0.48942	P	0.943	0.67921	D	0.014495	0.01391	N	2.175560	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.59	0.17624	N	0.698	0.71232	-0.8555	0.51584	T	0.214	0.57507	T	9	0.7151817	0.73300	D	0.092855	0.75968	D	0.164	0.42212	.	.	0.721047339704	0.71859	0.19992743766520593	0.19909	.	.	.	.	.	.	.	.	-0.0948487	0.37274	T	-0.37402	0.36421	T	0.884239971637726	0.53446	D	0.579842	0.20971	T	.	.	.	.	.	.	.	.	-4.527	0.31589	T	.	.	0.093	0.19194	B	.;.	.;.	3.532508	0.49572	22.8	0.96380260623962755	0.29617	0.98260	0.81026	D	AEFDBIJ	0.695885	0.65440	D	0.399699195295901	0.61406	4.341263	0.47040644657224	0.66036	4.90028	0.999999999474518	0.74766	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.52698	0.09003	0	.	.	5.38	5.38	0.77279	4.120000	0.57646	7.727000	0.67598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.128	0.93377	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1303.33	35	chr1	96804787	.	C	T	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.985;DP=756;ExcessHet=0;FS=2.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.972;SOR=0.989	GT:AD:DP:GQ:PL	0/1:60,53:115:99:1317,0,1626	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|1:101,18:119:99:0|1:99884396_T_C:201,0,3746:99884396	4	0	15	0
chr1	103541441	103541441	G	A	exonic	RNPC3	.	nonsynonymous SNV	RNPC3:NM_017619:exon8:c.G859A:p.D287N	.	462	1054	6	0	0	6	0.00283822	.	.	.	2415949	Isolated_growth_hormone_deficiency,_type_5	MONDO:MONDO:0032569,MedGen:C4748435,OMIM:618160	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.017884744922	.	0.000199681	0.0009	0	0	0	0	0.0001	0	0.0018	0.0001035	16	154602	rs574736349	0.0002	0.0002	0.0002	0.0003	0.0090	0.0002	0.0002	0.0070	0.0063	0.0002	0.0002	0	0	0	0.0090	0.0002	0.0004	0.0008	0.0005	0.0005	0.0004	0.0005	0.0026	0.0004	0.0003	0.0020	0.0018	4.813e-05	0	0.0026	0	0	0	0.0068	0.0003	0	0.0008	0.063	0.36709	T	0.135	0.35082	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999988	0.54805	D	.	.	.	2.11	0.20122	T	-1.34	0.42191	N	0.219	0.24510	-0.9874	0.33249	T	0.109	0.39344	T	9	0.027320743	0.00880	T	0.017885	0.39762	T	0.132	0.35948	0.286	0.24440	0.607244974009	0.60409	0.37705582609364807	0.37620	0.139732063238	0.15750	0.556309223175	0.46746	T	0.028495	0.20628	T	-0.49492	0.00611	T	-0.529246	0.19361	T	0.0992655103754175	0.12276	T	0.886311	0.61284	D	0.112720676	0.26627	0.16189568	0.37633	0.112720676	0.26627	0.16189568	0.37633	-4.613	0.34685	T	0.3900012873959192	0.48330	0.226	0.53402	B	.;.;.;.	.;.;.;.	4.529835	0.71095	25.6	0.99929228307759566	0.99279	0.95664	0.65634	D	AEFBI	0.588137	0.58552	D	0.647159993867495	0.76184	6.440033	0.595978971061096	0.74652	6.173436	0.999943137422116	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	4.733000	0.61730	9.840000	0.81918	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.119	0.89496	654	0.62520	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007289	0.006667	0.000000	0.013889	0.000000	0.000000	0.006579	0.000000	0.02632	1361.33	34	chr1	103541441	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=744;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.191;SOR=0.631	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1375,0,1301	18	0	1	0
chr1	108450674	108450674	C	T	exonic	NBPF6	.	nonsynonymous SNV	NBPF6:NM_001143987:exon2:c.C73T:p.R25C,NBPF6:NM_001143988:exon2:c.C73T:p.R25C	.	589	898	35	0	0	35	0.0191152	.	.	.	2424091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	.	.	.	0.0409	0.0233	0.0417	0	.	0.0617	0.1	0	0.0006147	16	26028	rs764129799	0.0109	0.0100	0.0112	0.0106	0.0239	0.0107	0.0107	0.0193	0.0176	0.0016	0.0045	0.0301	5.914e-05	0.0032	0.0239	0.0125	0.0118	0.0074	0.0076	0.0071	0.0082	0.0071	0.0121	0.0072	0.0070	0.0112	0.0109	0.0014	0	0.0085	0.0291	0	0.0032	0.0227	0.0121	0.0135	0.0052	0.116	0.29554	T	0.09	0.40267	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.25	0.63811	M	3.98	0.03354	T	-4.77	0.82511	D	0.168	0.23758	-0.9734	0.36474	T	0.025	0.10777	T	9	0.0038169324	0.00072	T	.	.	.	0.102	0.29158	.	.	.	.	0.03434494618045624	0.03382	.	.	0.608500301838	0.54103	T	0.100761	0.40687	T	-0.181139	0.23566	T	-0.49797	0.22558	T	0.0194565756206966	0.00649	T	0.622938	0.26965	T	0.0987205	0.23288	0.14248778	0.33896	0.0987205	0.23288	0.14248778	0.33895	-9.501	0.70865	D	.	.	0.158	0.34906	B	.;.;.	.;.;.	1.352385	0.17601	13.26	0.93927097785848512	0.23973	0.00517	0.02413	N	AEFI	0.039513	0.05751	N	-0.98526045166862	0.08918	0.4200131	-1.15727432917467	0.06638	0.3202004	2.04898260433321E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-1.82	0.07433	0.783000	0.26463	-6.546000	0.01369	0.302000	0.18967	0.019000	0.19563	0.000000	0.08366	0.070000	0.16646	0.0:0.4187:0.0:0.5813	5.166	0.14412	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.026570	0.020833	0.014493	0.051282	0	0.071429	0.032258	0.000000	0.02632	578.33	32	chr1	108450674	.	C	T	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.206;DP=698;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.36;MQRankSum=-1.716;QD=7.71;ReadPosRankSum=-0.908;SOR=1.166	GT:AD:DP:GQ:PL	0/1:49,26:75:99:592,0,1265	18	0	1	0
chr1	109627849	109627849	G	T	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon8:c.G963T:p.K321N,AMPD2:NM_001257361:exon9:c.G834T:p.K278N,AMPD2:NM_004037:exon9:c.G1026T:p.K342N,AMPD2:NM_139156:exon9:c.G945T:p.K315N,AMPD2:NM_001368809:exon10:c.G1026T:p.K342N	Pontocerebellar hypoplasia, type 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0731118022988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.34800	T	0.309	0.25362	T	0.641	0.90584	P	0.115	0.83170	B	0.000000	0.84330	N	0.047275	0.995506	0.42722	D	2.565	0.75005	M	-2.82	0.91192	D	-1.63	0.45404	N	0.714	0.74918	-0.0388	0.81443	T	0.599	0.85696	D	10	0.5694334	0.65235	D	0.073112	0.71706	D	0.271	0.58633	0.378	0.39319	0.834945890135	0.83337	0.953894012004431	0.95373	1.81151216937	0.91805	0.880734622478	0.94059	D	0.416881	0.76970	T	0.0315424	0.55928	T	-0.192468	0.55359	T	0.84255681478561	0.49537	D	0.935206	0.75689	D	0.18367572	0.39646	0.14593779	0.34593	0.18367572	0.39646	0.14593779	0.34592	-9.592	0.74091	D	.	.	0.818	0.78867	P	.;.;.;.;.;.	.;.;.;.;.;.	3.596330	0.50772	23.0	0.99771790487686962	0.86003	0.97223	0.73418	D	AEFBI	0.634860	0.61458	D	-0.117967397880545	0.36610	2.118501	-0.0657441383265564	0.36815	2.147465	0.788411208204607	0.23971	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	1.28	0.20656	2.065000	0.41068	1.273000	0.25303	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2942:0.0:0.5674:0.1384	5.095	0.14065	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.53	43	chr1	109627849	.	G	T	39.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.909;DP=1393;ExcessHet=0;FS=99.392;InbreedingCoeff=-0.0383;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=1.76;SOR=8.318	GT:AD:DP:GQ:PL	0/1:109,21:134:53:53,0,2034	18	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,21:127:99:0|1:110222977_C_G:104,0,3857:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,20:128:91:0|1:110222977_C_G:91,0,3932:110222977	8	0	11	0
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	940.8	41	chr1	110222982	.	C	G	940.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,20:128:91:0|1:110222977_C_G:91,0,3932:110222977	16	0	3	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	0/1:71,14:89:19:.:.:19,0,1564:.	5	0	14	0
chr1	114587782	114587782	A	C	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.T2431G:p.F811V,DENND2C:NM_001256404:exon19:c.T2602G:p.F868V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.104839659754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	5.472e-06	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	0.54	0.54911	T	-6.42	0.91268	D	0.957	0.97750	-0.1704	0.78419	T	0.355	0.71827	T	10	0.96066105	0.95472	D	0.10484	0.77963	D	0.782	0.92746	0.825	0.93657	0.824315377144	0.82265	0.5744396848383087	0.57372	0.428243941696	0.43150	0.836233615875	0.87519	D	0.104277	0.41370	T	0.330162	0.85178	D	0.236479	0.84982	D	0.996985375881195	0.90511	D	0.998792	0.99376	D	0.8280627	0.85769	0.81115717	0.88973	0.8280627	0.85770	0.81115717	0.88974	-8.84	0.68804	D	.	.	0.906	0.85593	P	.;.;.	.;.;.	5.233246	0.87849	29.4	0.99251178681674002	0.56891	0.99428	0.95904	D	AEFDGBHI	0.937180	0.93459	D	0.910225850195385	0.92253	11.31757	0.86430900389109	0.93824	12.306	0.999999998982814	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.9	5.9	0.94952	8.947000	0.92735	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	16.378	0.83245	731	0.54177	.;dDENN domain|Tripartite DENN domain|dDENN domain;dDENN domain|Tripartite DENN domain|dDENN 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	1018.33	34	chr1	114587782	.	A	C	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.853;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.62;SOR=0.65	GT:AD:DP:GQ:PL	0/1:76,51:127:99:1032,0,2042	18	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	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	0/1:95,82:188:99:791,0,1001	3	0	16	0
chr1	117933392	117933392	A	G	exonic	WDR3	.	nonsynonymous SNV	WDR3:NM_006784:exon2:c.A73G:p.N25D	.	425	1096	1	0	0	1	0.000455996	.	.	.	2240383	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.0451060281779	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs377392703	1.915e-05	1.915e-05	1.633e-05	2.2e-05	0.0017	1.328e-05	1.144e-05	0.0009	0.0007	0	0	0	0	0	0.0017	8.993e-06	3.312e-05	6.956e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.038	0.51421	D	0.935	0.52277	P	0.494	0.47478	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.73	0.79844	M	0.34	0.58176	T	-3.84	0.72240	D	0.696	0.70088	-0.5755	0.65795	T	0.185	0.53481	T	9	0.7646744	0.76611	D	0.045106	0.61818	D	0.369	0.68844	.	.	0.749469591317	0.74720	0.600512053882863	0.59982	0.175643747234	0.19774	0.650245606899	0.60020	T	0.213409	0.57471	T	-0.121723	0.32843	T	-0.256257	0.49198	T	0.50818242611184	0.32930	D	0.89781	0.64256	D	0.6438031	0.75033	0.44956115	0.67962	0.6438031	0.75035	0.44956115	0.67962	-6.839	0.52848	T	.	.	0.337	0.55678	B	.	.	4.924239	0.81125	27.5	0.99598867945407299	0.74101	0.97393	0.74464	D	AEFBI	0.769103	0.70446	D	0.606113108968724	0.73561	5.986216	0.588555609558238	0.74116	6.082969	0.999999939849924	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	6.906000	0.75540	11.272000	0.91439	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9232:0.0:0.0768:0.0	10.866	0.46063	666	0.61362	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	.	.	.	.	.	.	.	.	0.02632	1449.33	34	chr1	117933392	.	A	G	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=753;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.102;SOR=0.887	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1463,0,1797	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	0/1:108,21:138:90:.:.:90,0,3735:.	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	0/1:119,17:138:14:.:.:14,0,3891:.	9	0	10	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	0/1:477,118:595:99:1697,0,12447	8	0	11	0
chr1	151286518	151286518	C	T	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon2:c.C227T:p.P76L,ZNF687:NM_020832:exon2:c.C227T:p.P76L,ZNF687:NM_001304763:exon3:c.C227T:p.P76L	Paget disease of bone 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3047727	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00566967924234	7.7e-05	.	3.299e-05	0.0002	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs142824299	1.505e-05	1.573e-05	1.497e-05	1.513e-05	0.0001	9.85e-06	8.41e-06	5.849e-05	3.758e-05	0.0001	2.236e-05	0	2.519e-05	0	0	6.295e-06	4.967e-05	5.797e-05	5.913e-05	5.91e-05	5.138e-05	6.725e-05	0.0002	3.077e-05	2.21e-05	9.564e-05	6.962e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.166	0.23183	T	0.131	0.34596	T	0.002	0.09854	B	0.001	0.04355	B	0.408882	0.13023	N	0.588529	0.999927	0.51308	D	0.85	0.21244	L	5.63	0.00800	T	-1.78	0.42001	N	0.107	0.10056	-0.9472	0.41448	T	0.002	0.00497	T	10	0.05075088	0.04854	T	0.00567	0.14681	T	0.044	0.11924	.	.	0.102598925029	0.09809	0.13247054864600022	0.13171	0.324849284721	0.34638	0.331790924072	0.15205	T	0.024215	0.18341	T	-0.469771	0.00853	T	-0.675901	0.07236	T	0.0102369439710938	0.00139	T	0.70273	0.31245	T	0.022414839	0.00902	0.027591357	0.00923	0.022414839	0.00902	0.027591357	0.00923	-3.603	0.17900	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	0.829201	0.12004	8.563	0.80485649908073054	0.13225	0.58219	0.30583	D	AEFGBCI	0.245503	0.36642	N	-0.722006694729122	0.15404	0.7760131	-0.740472260463188	0.15956	0.8417947	0.990903794458768	0.32307	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.32	2.25	0.27340	1.319000	0.33260	1.178000	0.24674	-0.242000	0.07441	0.006000	0.17386	0.001000	0.17328	0.038000	0.14061	0.3654:0.5224:0.0:0.1122	5.019	0.13692	90	0.96275	.;.;.	.	.	.	.	.	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	1371.33	33	chr1	151286518	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=724;ExcessHet=0;FS=6.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.21;SOR=1.325	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1385,0,1342	18	0	1	0
chr1	152108944	152108944	G	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C4273G:p.R1425G	.	0	225	0	1	0	2	0.00442478	.	.	.	3331940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00179475900962	.	.	3.32e-05	0	0	0	0	6.01e-05	0	0	3.23e-05	5	154602	rs767497333	4.857e-05	4.857e-05	4.629e-05	5.088e-05	0.0045	3.926e-05	3.605e-05	0.0032	0.0027	0	2.236e-05	0.0004	0	0	0.0045	2.158e-05	0.0001	1.159e-05	3.309e-05	3.293e-05	3.883e-05	2.708e-05	6.588e-05	1.268e-05	8.03e-06	.	.	2.431e-05	0	6.588e-05	0.0006	0	0	0	1.475e-05	0	0	0.184	0.21634	T	0.347	0.17640	T	0.996	0.68779	D	0.92	0.65550	D	.	.	.	.	0.970767	0.25688	N	2.61	0.76335	M	3.3	0.06368	T	-1.35	0.33598	N	0.249	0.28146	-1.0299	0.20487	T	0.021	0.08917	T	9	0.136365	0.25946	T	0.001795	0.03063	T	0.062	0.17934	.	.	0.519623219509	0.51606	0.022509816199930963	0.02202	0.339693499152	0.35915	0.293021202087	0.09364	T	0.004073	0.03483	T	-0.275336	0.11168	T	-0.502826	0.22054	T	0.148108341434885	0.16952	T	0.450355	0.12714	T	0.11755125	0.27710	0.17139907	0.39319	0.11755125	0.27709	0.17139907	0.39318	-7.869	0.60174	D	.	.	0.302	0.53151	B	.;.	.;.	1.866281	0.23708	16.12	0.93358878304865278	0.23098	0.13831	0.18075	N	AEFDBCIJ	0.122284	0.23735	N	0.0780949455629543	0.45442	2.800674	-0.0699603164613235	0.36639	2.134782	0.999983003852526	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.06	3.06	0.34374	0.611000	0.23965	.	.	0.581000	0.30040	0.002000	0.15269	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	9.414	0.37675	478	0.77585	.;.	.	.	.	.	.	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	3127.33	44	chr1	152108944	.	G	C	3127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.062;DP=2823;ExcessHet=0;FS=3.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.47;SOR=0.522	GT:AD:DP:GQ:PL	0/1:153,128:281:99:3141,0,3967	18	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P	Ichthyosis vulgaris, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	1164060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	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	0.003719	0.020408	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1002.33	499	chr1	152309431	.	A	G	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.37;DP=5273;ExcessHet=0;FS=9.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.14;MQRankSum=-16.23;QD=2.01;ReadPosRankSum=-4.748;SOR=1.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:442,57:499:99:0|1:152309431_A_G:1016,0,18008:152309431	18	0	1	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A	Ichthyosis vulgaris, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1084.33	543	chr1	152309635	.	T	C	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.98;DP=5558;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.09;MQRankSum=-19.04;QD=1.7;ReadPosRankSum=-6.58;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:570,67:637:99:0|1:152309616_T_C:1098,0,23425:152309616	18	0	1	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C	Ichthyosis vulgaris, Autosomal dominant	0	1487	32	2	1	37	0.0119601	.	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	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	5860.33	466	chr1	152310577	.	G	A	5860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=5493;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-1.023;QD=13.32;ReadPosRankSum=1.18;SOR=0.597	GT:AD:DP:GQ:PL	0/1:226,214:440:99:5874,0,6047	18	0	1	0
chr1	152910295	152910354	AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.498_557del:p.K174_L193del	.	406	1113	2	0	1	3	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0018	0.0015	0.0017	0.0033	0.0016	0.0015	0.0022	0.0018	0.0004	0.0012	0.0034	2.528e-05	0.0014	0.0033	0.0016	0.0024	0.0017	0.0033	0.0036	0.0033	0.0033	0.0054	0.0030	0.0029	0.0044	0.0040	0.0010	0	0.0054	0.0042	0	0.0010	0.0041	0.0046	0.0047	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1373.79	36	chr1	152910294	.	TAGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	T	1373.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.923;DP=784;ExcessHet=0.119;FS=7.308;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.3;MQRankSum=0.016;QD=10.18;ReadPosRankSum=0.6;SOR=1.324	GT:AD:DP:GQ:PL	0/1:40,21:61:99:771,0,1581	17	0	2	0
chr1	158607196	158607196	G	T	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G758T:p.G253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0174682951446	.	.	9.889e-05	0	0.0003	0	0	0.0001	0	6.056e-05	7.76e-05	12	154602	rs758530123	4.515e-05	4.515e-05	4.764e-05	4.263e-05	0.0014	3.641e-05	3.321e-05	0.0007	0.0005	0	0.0001	0	0	0	0.0014	3.957e-05	6.623e-05	4.637e-05	3.288e-05	3.284e-05	3.857e-05	2.692e-05	6.548e-05	1.262e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.548e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.028902	0.25531	N	0.193146	0.999978	0.53665	D	2.15	0.60148	M	1.3	0.35590	T	-8.68	0.97599	D	0.356	0.39760	-0.6743	0.61634	T	0.206	0.56471	T	10	0.42724717	0.57256	T	0.017468	0.39181	T	0.275	0.59130	0.537	0.64730	0.602985972322	0.59981	0.12659852446670775	0.12585	0.0161916664348	0.01549	0.248453333974	0.03607	T	0.007731	0.07117	T	-0.163942	0.26157	T	-0.203968	0.54269	T	0.553010612297232	0.34590	D	0.880612	0.59878	D	0.8626998	0.88292	0.87477744	0.93197	0.8626998	0.88293	0.87477744	0.93198	-8.826	0.66570	D	.	.	0.202	0.42606	B	.;.	.;.	3.657674	0.51945	23.2	0.99749546410992351	0.84152	0.23933	0.22234	N	AEFI	0.232491	0.35556	N	0.440093822823289	0.63645	4.602085	0.32180612437783	0.56824	3.846336	0.78632045250227	0.23936	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	3.007000	0.49223	7.176000	0.57738	0.672000	0.70159	0.430000	0.26409	1.000000	0.68203	0.869000	0.41347	0.0:0.0:1.0:0.0	17.337	0.87172	543	0.72751	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2045.33	33	chr1	158607196	.	G	T	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=836;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.584;SOR=0.579	GT:AD:DP:GQ:PL	0/1:78,75:153:99:2059,0,2176	18	0	1	0
chr1	159781359	159781359	C	G	exonic	DUSP23	.	nonsynonymous SNV	DUSP23:NM_001319658:exon1:c.C259G:p.R87G,DUSP23:NM_001319659:exon2:c.C259G:p.R87G,DUSP23:NM_017823:exon2:c.C259G:p.R87G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0169144413182	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs981446053	4.331e-05	4.378e-05	5.039e-05	3.594e-05	5.095e-05	3.411e-05	3.123e-05	3.99e-05	3.574e-05	3.339e-05	0	0	0	0	0	5.095e-05	7.103e-05	0	8.544e-05	8.537e-05	8.994e-05	8.073e-05	0.0002	4.958e-05	3.964e-05	0.0001	7.896e-05	0	0	0	0	0	9.414e-05	0	0.0002	0	0	0.022	0.48642	D	0.212	0.26549	T	0.01	0.15535	B	0.012	0.16012	B	0.067726	0.21720	N	0.487586	0.565055	0.32245	D	1.02	0.25474	L	1.97	0.22067	T	-2.86	0.60188	D	0.262	0.30687	-1.0159	0.25045	T	0.012	0.04558	T	10	0.15236923	0.28782	T	0.016914	0.38384	T	0.088	0.25558	0.485	0.56780	0.369309618794	0.36543	0.4496442432269852	0.44882	0.438513914143	0.43882	0.484825700521	0.36721	T	0.398236	0.75639	T	-0.279505	0.10720	T	-0.444295	0.28327	T	0.205047219991684	0.20691	T	0.666633	0.27564	T	0.50091726	0.67149	0.37219128	0.62432	0.50091726	0.67150	0.37219128	0.62432	-6.572	0.50839	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	3.433990	0.47740	22.5	0.97515357012615733	0.34373	0.87037	0.46459	D	AEFDBHCIJ	0.731970	0.67887	D	-0.533197576621178	0.21013	1.112072	-0.428109793924855	0.24177	1.322455	0.999985913032909	0.51787	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.95	3.07	0.34476	1.310000	0.33156	0.017000	0.13531	0.549000	0.26987	0.986000	0.36153	0.001000	0.17328	0.985000	0.61073	0.1884:0.7155:0.0:0.0961	5.949	0.18474	929	0.16858	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	33	chr1	159781359	.	C	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.611;SOR=0.667	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1310,0,724	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:203,68:273:99:511,0,4544	7	0	12	0
chr1	161193374	161193374	C	T	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon7:c.G1750A:p.E584K,ADAMTS4:NM_005099:exon7:c.G1750A:p.E584K	.	.	.	.	.	.	.	.	.	.	.	2760980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.436	0.0581364384425	.	.	8.294e-06	9.634e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746213424	1.3e-05	1.3e-05	1.634e-05	9.629e-06	0.0002	8.32e-06	6.7e-06	9.89e-06	5.03e-06	5.974e-05	2.237e-05	0	2.519e-05	0	0.0002	1.169e-05	0	1.159e-05	3.946e-05	3.941e-05	6.428e-05	1.346e-05	0.0001	1.717e-05	1.13e-05	6.289e-05	4.303e-05	0.0001	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.024	0.56640	D	0.999	0.77913	D	0.941	0.67658	D	0.000008	0.62929	D	0.000000	0.999992	0.58761	D	2.57	0.75187	M	-0.02	0.62918	T	-3.34	0.66325	D	0.718	0.72031	-0.2034	0.77583	T	0.381	0.73788	T	10	0.83827305	0.82982	D	0.058136	0.67212	D	0.436	0.74093	0.562	0.68229	0.865272772419	0.86396	0.7150372232438647	0.71446	0.963226809832	0.73075	0.71559047699	0.69404	T	0.46739	0.80174	T	0.107589	0.65102	D	0.0982952	0.76795	D	0.985471487045288	0.76457	D	0.89781	0.64256	D	0.4757519	0.65642	0.41198987	0.65415	0.4757519	0.65643	0.41198987	0.65415	-8.264	0.62855	D	.	.	0.329	0.55173	B	.	.	5.323241	0.89347	30	0.99908469105494646	0.97875	0.98133	0.79881	D	AEFGBI	0.838728	0.75621	D	0.735379367458963	0.81951	7.643879	0.681266355617651	0.80957	7.416029	0.999999999999993	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.688494	0.62686	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	6.124000	0.71349	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	16.810	0.85579	431	0.80762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1371.33	33	chr1	161193374	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.558;DP=1286;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.936;SOR=0.767	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1385,0,1635	18	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08824	118.97	88	chr1	165743215	.	G	C	118.97	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.885;DP=1613;ExcessHet=0.3672;FS=217.04;InbreedingCoeff=-0.1466;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.688;SOR=10.986	GT:AD:DP:GQ:PL	0/1:62,28:90:26:26,0,890	14	0	3	2
chr1	169540460	169540460	C	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.G4630T:p.V1544L	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1801687	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0422988685976	.	0.000199681	0.0001	0	0	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs139288793	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0003	0.0002	5.975e-05	4.474e-05	0	0	5.617e-05	0.0009	0.0002	0.0002	1.159e-05	9.852e-05	0.0001	8.995e-05	0.0001	0.0002	6.004e-05	4.878e-05	0.0001	9.899e-05	0	0	6.541e-05	0	0	0	0	0.0002	0	0	0.011	0.57480	D	0.016	0.60972	D	0.833	0.46172	P	0.519	0.48163	P	0.000008	0.62929	D	0.063640	0.999975	0.53665	D	2.65	0.77586	M	1.0	0.41392	T	-2.41	0.52938	N	0.435	0.51761	-0.8508	0.51912	T	0.158	0.49128	T	9	0.17182997	0.31922	T	0.042299	0.60388	D	0.206	0.49396	0.44	0.49484	0.668704303088	0.66591	0.8525159941614119	0.85213	0.447768017683	0.44634	0.537139415741	0.44042	T	0.182066	0.53396	T	-0.201072	0.20650	T	-0.233115	0.51470	T	0.36934232711792	0.27772	T	0.773423	0.40508	T	0.15246047	0.34608	0.4229147	0.66178	0.15246047	0.34608	0.4229147	0.66178	-3.68	0.19023	T	0.8304579369758847	0.90140	0.303	0.53245	B	.;.	.;.	3.471852	0.48438	22.6	0.99603156799206716	0.74338	0.98713	0.85906	D	AEFBI	0.818734	0.73992	D	0.390726356115825	0.60919	4.286346	0.338503455232779	0.57818	3.949076	0.999999881697524	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	5.268000	0.65349	4.010000	0.41153	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.752000	0.35857	0.0:1.0:0.0:0.0	20.333	0.98727	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2645.33	39	chr1	169540460	.	C	A	2645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.034;DP=935;ExcessHet=0;FS=4.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=1.85;SOR=1.065	GT:AD:DP:GQ:PL	0/1:75,97:172:99:2659,0,1940	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|1:0,35:66:99:1|0:175160809_TC_T:2653,1092,1237:175160809	9	2	8	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	247.92	.	chr1	179903964	.	A	C	247.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.684;DP=881;ExcessHet=0.3672;FS=124.73;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=1.52;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,10:62:49:0|1:179903957_A_C:49,0,1598:179903957	15	0	3	1
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205293:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205294:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	32.68	119	chr1	181651376	.	C	G	32.68	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.647;DP=1941;ExcessHet=0.119;FS=277.081;InbreedingCoeff=-0.2222;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.635;SOR=10.048	GT:AD:DP:GQ:PL	0/1:112,34:153:8:8,0,2289	7	0	2	10
chr1	181798724	181798724	A	G	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon46:c.A6646G:p.M2216V,CACNA1E:NM_000721:exon47:c.A6703G:p.M2235V,CACNA1E:NM_001205293:exon48:c.A6832G:p.M2278V	.	.	.	.	.	.	.	.	.	.	.	1232482	Developmental_and_epileptic_encephalopathy,_69|CACNA1E-related_disorder|not_provided	MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.277	0.0453817838397	0.0002	0.000199681	0.0010	0.0001	0	0	0.0003	0.0015	0	0.0008	0.0007956	123	154602	rs200469194	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	0.0002	0.0001	3.836e-05	0	0.0002	0.0007	0.0009	0.0007	0.0007	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	6.534e-05	0	0	0.0002	0	0.0009	0.0014	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.19406	B	0.0	0.11217	B	0.000019	0.62929	D	0.159198	0.905965	0.36288	D	-0.135	0.04517	N	-3.21	0.93787	D	-0.65	0.18877	N	0.133	0.36569	-0.5201	0.67910	T	0.396	0.74901	T	10	0.008441597	0.00191	T	0.045382	0.61955	D	0.277	0.59375	.	.	0.676647754665	0.67390	0.3286904382447186	0.32782	0.306839583504	0.32986	0.528639793396	0.42842	T	0.103736	0.41266	T	-0.242318	0.15056	T	-0.17129	0.57324	T	0.0160030273476094	0.00381	T	0.871513	0.57764	D	0.07211374	0.16017	0.07441033	0.16275	0.07211374	0.16017	0.07441033	0.16275	-2.62	0.06657	T	.	.	0.238	0.47217	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.644508	0.34418	19.62	0.67872631917846005	0.08485	0.72463	0.35467	D	AEFDBCI	0.257536	0.37625	N	-0.654715875475975	0.17324	0.8904189	-0.393943620799647	0.25177	1.383001	0.00412443373906715	0.10426	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	3.21	0.35933	2.781000	0.47437	1.732000	0.28335	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7929:0.1361:0.071:0.0	8.056	0.29767	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	33	chr1	181798724	.	A	G	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.32;DP=732;ExcessHet=0;FS=3.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.575;SOR=0.385	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1388,0,1665	18	0	1	0
chr1	186182258	186182258	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon105:c.A16385G:p.Q5462R	.	417	1095	10	0	0	10	0.00454545	.	.	.	706935	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.105142489045	0.0029	0.000798722	0.0022	0.0006	0.0049	0	0.0002	0.0029	0.0044	0.0002	0.0021151	327	154602	rs35856562	0.0031	0.0031	0.0031	0.0031	0.0038	0.0030	0.0030	0.0034	0.0034	0.0008	0.0031	0.0064	0	0.0001	0.0038	0.0035	0.0033	0.0003	0.0019	0.0019	0.0022	0.0015	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0	0.0017	0.0055	0	9.409e-05	0.0136	0.0030	0.0005	0.0002	0.955	0.02121	T	1.0	0.01155	T	0.002	0.09854	B	0.004	0.10090	B	0.001513	0.38793	N	0.307408	0.909424	0.27538	N	-0.225	0.03956	N	-3.38	0.94161	D	1.68	0.01839	N	0.201	0.22228	-0.6217	0.63918	T	0.436	0.77612	T	10	0.011597693	0.00253	T	0.105142	0.78010	D	0.171	0.43483	.	.	0.774371627912	0.77229	0.38727799612058944	0.38642	0.284658199445	0.30886	0.339096754789	0.16302	T	0.130357	0.45920	T	-0.384662	0.02911	T	-0.328367	0.41650	T	0.0124140793636833	0.00203	T	0.768423	0.46271	T	0.037489317	0.04815	0.053567965	0.09047	0.044496614	0.07122	0.04633494	0.06434	-0.356	0.00502	T	.	.	0.074	0.19998	B	.;.	.;.	1.545503	0.19817	14.45	0.83466165221705935	0.14741	0.53302	0.29339	D	AEFBI	0.102192	0.20505	N	-0.58428299943687	0.19422	1.016341	-0.351901508768563	0.26449	1.461053	0.999633445047171	0.41205	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.42	3.13	0.35090	1.996000	0.40396	1.924000	0.29729	0.756000	0.94297	0.976000	0.34826	0.239000	0.23838	0.954000	0.50415	0.7168:0.0:0.2832:0.0	8.288	0.31102	675	0.60470	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, 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	1	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1080.33	35	chr1	186182258	.	A	G	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.288;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.286;SOR=0.698	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1094,0,840	18	0	1	0
chr1	196788400	196788400	T	C	splicing	CFHR3	NM_021023:exon4:c.613+2T>C	.	.	.	662	853	5	2	0	9	0.00524781	0.9986	0.59	.	777070	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00159744	0.0041	0.0010	0.0009	0.0008	0.0011	0.0042	0.0059	0.0113	0.0034346	531	154602	rs138839071	0.0036	0.0035	0.0034	0.0038	0.0107	0.0035	0.0035	0.0101	0.0098	0.0007	0.0006	4.137e-05	0.0004	0.0030	0.0073	0.0035	0.0040	0.0107	0.0025	0.0025	0.0026	0.0023	0.0080	0.0023	0.0022	0.0058	0.0051	0.0005	0	0.0008	0	0.0010	0.0030	0	0.0037	0.0027	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.387762	0.02781	T	-0.320375	0.42533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.977034	0.58442	24.0	0.88683260554106547	0.18171	0.48316	0.28179	N	AEFGI	.	.	.	0.588779939643882	0.72473	5.811	0.300628380326113	0.55577	3.720569	8.00903597144056E-5	0.04552	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.226647	0.31609	2.94	2.94	0.33188	1.713000	0.37570	4.313000	0.42975	0.473000	0.21965	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:0.0:1.0	7.756	0.28093	531	0.73574	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05882	786.42	19	chr1	196788400	.	T	C	786.42	.	AC=2;AF=0.059;AN=34;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.059;MQ=45.81;QD=25.37;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,31:31:93:812,93,0	16	1	0	2
chr1	200560880	200560880	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_001305792:exon24:c.G2599A:p.G867R,KIF14:NM_014875:exon26:c.G4072A:p.G1358R	.	.	.	.	.	.	.	.	0.9989	0.894	.	3224888	Microcephaly_20,_primary,_autosomal_recessive	MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.363e-06	2.753e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.977	0.58535	D	0.88	0.62516	P	0.000037	0.55875	D	0.123078	0.999786	0.49076	D	2.57	0.75187	M	-1.55	0.81727	D	-6.25	0.90568	D	0.691	0.72477	0.453	0.89883	D	0.685	0.89136	D	10	0.8161094	0.80849	D	0.125312	0.80681	D	0.522	0.79704	0.47	0.54376	0.96278049941	0.96238	0.7692362278569684	0.76872	0.471967568472	0.46443	0.596073448658	0.52350	T	0.366527	0.73176	T	0.119093	0.66281	D	-0.0667072	0.65861	T	0.992022395133972	0.82411	D	0.876112	0.58827	D	0.7420521	0.80410	0.7419823	0.84749	0.7420521	0.80411	0.7419823	0.84750	-3.498	0.16403	T	.	.	0.932	0.85168	P	.;.	.;.	5.351283	0.89766	31	0.99920655203651776	0.98721	0.94095	0.60097	D	AEFBI	0.661061	0.63141	D	0.62235378818171	0.74589	6.15867	0.57850726479854	0.73400	5.964508	0.999962596529887	0.48965	0.706298	0.61202	0	0.71359	0.82159	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.43	5.43	0.79006	5.525000	0.66826	7.347000	0.58277	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	19.259	0.93946	571	0.70397	.;.	.	.	.	.	.	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	1857.33	43	chr1	200560880	.	C	T	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.195;DP=791;ExcessHet=0;FS=2.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.575;SOR=0.956	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1871,0,1742	18	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T,RNPEP:NM_001319184:exon10:c.G1018A:p.A340T,RNPEP:NM_001319182:exon11:c.G1495A:p.A499T,RNPEP:NM_020216:exon11:c.G1888A:p.A630T	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase 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	0.006546	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.003788	0.02632	915.33	33	chr1	202005651	.	G	A	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.573;SOR=0.758	GT:AD:DP:GQ:PL	0/1:53,39:92:99:929,0,1287	18	0	1	0
chr1	204259723	204259723	G	A	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon8:c.C542T:p.S181L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00317558736742	.	.	8.541e-05	0	0	0	0	9.24e-05	0	0.0003	7.76e-05	12	154602	rs745612031	5.21e-05	5.199e-05	4.09e-05	6.343e-05	0.0005	4.168e-05	3.896e-05	0.0004	0.0004	0	6.725e-05	0	0	0	0.0003	1.802e-05	6.638e-05	0.0005	3.943e-05	3.94e-05	5.14e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.166	0.23997	T	0.034	0.52727	D	0.998	0.73220	D	0.945	0.68163	D	0.025818	0.26025	N	0.382752	0.999963	0.52935	D	1.6	0.40776	L	2.77	0.11407	T	-2.61	0.56144	D	0.622	0.66787	-1.2042	0.00121	T	0.069	0.28213	T	10	0.16718632	0.31199	T	0.003176	0.06936	T	0.123	0.34020	.	.	0.15499578495	0.15088	0.5650489410170895	0.56431	0.104387959458	0.11810	0.503550827503	0.39322	T	0.054998	0.29881	T	-0.218609	0.18183	T	-0.245817	0.50229	T	0.176166236400604	0.18989	T	0.925907	0.72722	D	0.17156631	0.37798	0.14851269	0.35104	0.17156631	0.37798	0.14851269	0.35103	-3.579	0.17553	T	.	.	0.121	0.25000	B	.;.;.	.;.;.	4.765394	0.77093	26.6	0.99854766760386215	0.93368	0.88688	0.48735	D	AEFDGBI	0.528622	0.55007	D	0.669239444561551	0.77617	6.709627	0.661865867719041	0.79498	7.094936	0.999999994919876	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.68	5.68	0.88021	4.748000	0.61842	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1428:0.8572:0.0	14.942	0.70649	808	0.43318	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	602.33	38	chr1	204259723	.	G	A	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1;SOR=0.576	GT:AD:DP:GQ:PL	0/1:25,23:48:99:616,0,671	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	0/1:107,34:141:14:.:.:14,0,2250:.	4	0	15	0
chr1	205921682	205921682	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon17:c.G1939A:p.G647S,SLC26A9:NM_134325:exon17:c.G1939A:p.G647S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.012001727016	.	.	0.0001	0.0002	0.0005	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs773345183	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0001	0.0002	0	7.771e-05	0	0.0014	0.0001	0.0002	7.154e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.096e-05	5.752e-05	7.911e-05	5.996e-05	0.0001	0	0	0	0.0004	0	0	0.0001	0	0	0.5	0.07746	T	0.786	0.04860	T	0.0	0.02946	B	0.0	0.01387	B	0.000049	0.00387	N	3.691500	1	0.08975	N	-1.1	0.00987	N	-3.06	0.92457	D	0.59	0.02558	N	0.112	0.11483	-0.3716	0.72912	T	0.417	0.76360	T	10	0.020697892	0.00482	T	0.012002	0.30173	T	0.169	0.43123	.	.	0.112648838833	0.10856	0.2031786687337173	0.20234	0.135698038814	0.15305	0.301892459393	0.10683	T	0.093471	0.39217	T	-0.338078	0.05522	T	-0.443967	0.28364	T	0.0127887791946615	0.00217	T	0.424058	0.11326	T	0.04026245	0.05716	0.046574056	0.06520	0.04026245	0.05716	0.046574056	0.06519	-2.718	0.07455	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	-0.479363	0.01934	0.164	0.26765099323408847	0.01297	0.01762	0.05538	N	AEFDBI	0.043787	0.06965	N	-1.41837991270414	0.02477	0.1094584	-1.45392682089015	0.02735	0.126329	0.998312613620723	0.36741	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.28	-4.27	0.03486	-0.292000	0.08368	-2.342000	0.03876	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2796:0.387:0.3334	5.791	0.17623	860	0.33753	.;STAS domain|STAS 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	0.002533	0.005208	0.001359	0.005848	0.000000	0.000000	0.003106	0.000000	0.02632	567.33	42	chr1	205921682	.	C	T	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=755;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.758;SOR=0.392	GT:AD:DP:GQ:PL	0/1:20,20:40:99:581,0,549	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,17:103:91:0|1:212100360_A_G:91,0,3350:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,17:103:91:0|1:212100360_A_G:91,0,3350:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,17:101:98:.:.:98,0,3289:.	12	0	7	0
chr1	213000354	213000354	G	T	exonic	ANGEL2	.	nonsynonymous SNV	ANGEL2:NM_001300757:exon6:c.C784A:p.Q262K,ANGEL2:NM_001300758:exon6:c.C784A:p.Q262K,ANGEL2:NM_001300753:exon7:c.C913A:p.Q305K,ANGEL2:NM_001300755:exon7:c.C913A:p.Q305K,ANGEL2:NM_144567:exon7:c.C1291A:p.Q431K	.	423	1075	24	0	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00310057964032	0.0018	0.00179712	0.0019	0.0003	0.0019	0.0001	0.0003	0.0029	0.0022	0.0006	0.0019405	300	154602	rs143386835	0.0020	0.0020	0.0019	0.0020	0.0061	0.0019	0.0019	0.0045	0.0039	0.0002	0.0019	0.0016	0	0.0002	0.0061	0.0022	0.0025	0.0008	0.0018	0.0018	0.0017	0.0020	0.0049	0.0016	0.0016	0.0040	0.0037	0.0004	0	0.0049	0.0017	0	9.427e-05	0.0068	0.0024	0.0028	0.0012	1.0	0.00964	T	1.0	0.02522	T	0.0	0.02946	B	0.0	0.01387	B	0.431435	0.12743	N	0.774749	0.999978	0.53665	D	-0.435	0.02851	N	2.05	0.40469	T	0.06	0.06253	N	0.056	0.02759	-0.9872	0.33298	T	0.024	0.10284	T	10	0.003398776	0.00059	T	0.003101	0.06726	T	0.021	0.04004	.	.	0.0666544352282	0.05500	0.36420257599318145	0.36334	0.27552616694	0.30027	0.320506691933	0.13497	T	0.131969	0.46178	T	-0.655854	0.00067	T	-0.718856	0.04851	T	0.000174284356663164	0.00001	T	0.510449	0.16283	T	0.026465869	0.01707	0.03996491	0.04210	0.026465869	0.01707	0.03996491	0.04210	-3.804	0.24489	T	.	.	0.051	0.00375	B	.;.;.	.;.;.	0.667273	0.10358	7.084	0.33758563679166287	0.02028	0.00526	0.02443	N	AEFBI	0.021870	0.01026	N	-1.19509625062244	0.05074	0.2304575	-1.0570101247486	0.08561	0.4215271	0.708608403772298	0.22791	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.38	-1.53	0.08156	0.460000	0.21635	0.176000	0.15576	-0.140000	0.12423	0.126000	0.23278	0.060000	0.22018	0.993000	0.69303	0.0:0.1767:0.477:0.3463	5.872	0.18055	798	0.45050	Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.009511	0.000000	0.050000	0.000000	0.006098	0.003788	0.02632	1287.33	36	chr1	213000354	.	G	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.27;DP=731;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.284;SOR=1.016	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1301,0,1486	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	0/1:61,35:96:78:78,0,790	8	0	11	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	1172.62	36	chr1	225353862	.	C	G	1172.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,21:68:99:0|1:225353861_A_G:197,0,1264:225353861	14	0	2	3
chr1	228276554	228276554	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R	.	0	1512	10	0	0	10	0.00329598	.	.	.	707155	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.467	.	0.0080	0.00259585	0.0071	0.0024	0.0016	0	0.0051	0.0115	0.0048	0.0009	0.0068498	1059	154602	rs62621832	0.0098	0.0099	0.0101	0.0096	0.0114	0.0097	0.0097	0.0112	0.0112	0.0018	0.0022	0.0249	2.519e-05	0.0045	0.0043	0.0114	0.0090	0.0011	0.0070	0.0070	0.0078	0.0062	0.0108	0.0067	0.0065	0.0101	0.0099	0.0018	0	0.0044	0.0277	0	0.0067	0.0068	0.0108	0.0095	0.0010	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	0.999942	0.81001	D	3.565	0.93411	H	2.1	0.19990	T	-11.01	0.99320	D	0.737	0.73735	-0.7285	0.59039	T	0.102	0.37768	T	10	0.009407371	0.00212	T	.	.	.	0.467	0.76222	0.775	0.90080	0.583302769791	0.58002	0.4738505820176235	0.47304	0.65333821406	0.58477	0.73115259409	0.71674	T	0.301001	0.67347	T	-0.247706	0.14381	T	-0.119194	0.61869	T	0.11602079450028	0.14037	T	0.666633	0.27564	T	0.9378889	0.95032	0.92057985	0.96438	0.93950826	0.95198	0.92057985	0.96439	-9.889	0.73244	D	.	.	0.995	0.95431	P	.;.;.;.;.	.;.;.;.;.	4.303685	0.65734	24.9	0.91588255705269361	0.20869	0.97392	0.74458	D	AEFDBHCI	0.855804	0.77295	D	0.710307424612649	0.80308	7.265702	0.590985888189692	0.74292	6.112295	1.0	0.98316	0.455138	0.09556	0	0.491552	0.07993	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.14	5.14	0.70008	7.872000	0.85555	7.698000	0.66136	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:0.0:1.0	14.955	0.70751	439	0.80177	.;Immunoglobulin subtype;Immunoglobulin subtype;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	1	0	0	0	0	1	0	0.002525	0.010204	0.002717	0.000000	0.050000	0.008621	0.000000	0.000000	0.02632	1054.33	33	chr1	228276554	.	T	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=1829;ExcessHet=0;FS=4.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.288;SOR=1.23	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1068,0,793	18	0	1	0
chr1	248038745	248038745	G	A	exonic	OR2L2	.	nonsynonymous SNV	OR2L2:NM_001004686:exon1:c.G478A:p.V160I	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00197246020742	0.0019	0.000798722	0.0015	0.0004	0.0008	0	0.0005	0.0024	0	0.0005	0.0014942	231	154602	rs146509597	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0025	0.0024	0.0003	0.0006	7.652e-05	0	0.0005	0.0012	0.0025	0.0016	0.0007	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0002	0	0.0020	0.0009	0.0004	0.389	0.10874	T	0.679	0.06128	T	0.001	0.07471	B	0.02	0.19048	B	0.143394	0.02903	U	2.120970	1	0.08975	N	0.15	0.08895	N	1.22	0.37052	T	-0.69	0.19720	N	0.057	0.02861	-1.0199	0.23747	T	0.070	0.28577	T	10	0.0074587166	0.00169	T	0.001972	0.03535	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.03582228898664548	0.03529	0.0154856023659	0.01475	0.201332330704	0.00497	T	0.003716	0.03121	T	-0.679017	0.00049	T	-0.752129	0.03404	T	0.000255671766353771	0.00002	T	0.728627	0.34357	T	0.039619584	0.05505	0.031232359	0.01685	0.039619584	0.05504	0.031232359	0.01685	-3.835	0.21328	T	.	.	0.077	0.07083	B	.;.;.	.;.;.	-0.687930	0.01349	0.075	0.5580624574880515	0.05419	0.00808	0.03281	N	AEFDI	0.021197	0.00918	N	-1.25312094537153	0.04258	0.1918495	-1.37374089245119	0.03534	0.1650454	1.52753510087019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.9	-1.73	0.07646	-3.213000	0.00614	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3611:0.0:0.6389:0.0	7.001	0.23988	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5450.33	33	chr1	248038745	.	G	A	5450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=989;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.981;SOR=0.633	GT:AD:DP:GQ:PL	0/1:167,194:361:99:5464,0,4599	18	0	1	0
chr2	15179040	15179040	C	T	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon51:c.G6788A:p.R2263Q	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	1370995	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.0119887026774	.	0.000199681	2.475e-05	0	0	0	0	1.501e-05	0	0.0001	2.59e-05	4	154602	rs574794539	1.026e-05	1.026e-05	9.528e-06	1.1e-05	6.956e-05	6.16e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.093e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.07425	T	0.537	0.12920	T	0.0	0.02946	B	0.001	0.04355	B	0.243171	0.03596	N	1.426570	1	0.08975	N	-0.57	0.02306	N	1.49	0.31470	T	0.42	0.03352	N	0.084	0.06059	-0.8593	0.51312	T	0.017	0.07045	T	10	0.01325953	0.00282	T	0.011989	0.30154	T	0.075	0.21907	0.16	0.06396	0.0884992946249	0.08302	0.04295277915036738	0.04240	0.0411434871768	0.04416	0.193428441882	0.00292	T	0.003173	0.02576	T	-0.47608	0.00780	T	-0.661953	0.08135	T	0.0249752308292459	0.01269	T	0.749425	0.37065	T	0.014464926	0.00094	0.02294129	0.00311	0.014464926	0.00094	0.02294129	0.00311	-2.943	0.09580	T	0.06375599853847652	0.01983	0.066	0.02118	B	.;.	.;.	-2.152406	0.00072	0.001	0.75376535251164378	0.11051	0.00581	0.02619	N	AEFBI	0.033015	0.03838	N	-2.3007698657247	0.00045	0.001944671	-2.35751954259985	0.00049	0.002166728	0.999999999200065	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.98	-12.0	0.00013	-1.909000	0.01677	-7.891000	0.01066	-1.890000	0.00534	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0698:0.3522:0.2832:0.2948	5.600	0.16629	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1043.33	36	chr2	15179040	.	C	T	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=758;ExcessHet=0;FS=3.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.113;SOR=0.392	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1057,0,945	18	0	1	0
chr2	17718077	17718077	C	G	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon11:c.G1092C:p.E364D,SMC6:NM_001142286:exon12:c.G1092C:p.E364D	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0212465142959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.847e-05	1.373e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.068	0.49942	T	0.94	0.77913	P	0.796	0.75793	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.305	0.65957	M	1.52	0.30669	T	-2.49	0.54217	N	0.456	0.49328	-0.9945	0.31432	T	0.143	0.46459	T	9	0.5550543	0.64470	D	0.021247	0.43989	T	0.201	0.48592	0.72	0.85496	0.439445477881	0.43565	0.39608735440883663	0.39523	0.785247102179	0.65485	0.576108396053	0.49537	T	0.117911	0.43834	T	-0.126733	0.32025	T	-0.419819	0.31095	T	0.95919793844223	0.65469	D	0.882812	0.61002	D	0.4057743	0.61131	0.30099767	0.56132	0.4057743	0.61131	0.30099767	0.56132	-4.967	0.36479	T	.	.	0.496	0.64380	A	.;.;.;.;.	.;.;.;.;.	5.135708	0.85965	28.8	0.99795594030637791	0.88106	0.94334	0.60835	D	AEFBHCI	0.722747	0.67258	D	0.443120586177463	0.63814	4.622516	0.423846892171514	0.63056	4.531784	0.999999999395155	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.59	0.40253	4.629000	0.60988	4.754000	0.44676	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.8588:0.0:0.1412	11.912	0.52030	533	0.73433	.;.;.;.;.	.	.	.	.	.	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	118.54	26	chr2	17718077	.	C	G	118.54	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.054;DP=442;ExcessHet=0.2119;FS=56.97;InbreedingCoeff=0.1338;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=1.3;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,2:27:9:0|1:17718072_C_G:9,0,1022:17718072	8	0	2	9
chr2	17931679	17931679	G	A	exonic	KCNS3	.	nonsynonymous SNV	KCNS3:NM_001282428:exon3:c.G671A:p.G224E,KCNS3:NM_002252:exon3:c.G671A:p.G224E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0510251243608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.541e-05	0	0	0	2.519e-05	0	0.0005	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.291	0.20944	T	0.174	0.28827	B	0.166	0.35067	B	0.003481	0.34874	N	0.307812	0.948607	0.37617	D	1.79	0.46772	L	-4.37	0.97343	D	0.95	0.01509	N	0.533	0.56317	0.452	0.89861	D	0.811	0.93614	D	10	0.44936258	0.58600	T	0.051025	0.64488	D	0.462	0.75889	0.482	0.56302	0.994377070842	0.99431	0.6169051346210884	0.61622	0.581682399096	0.53958	0.474536836147	0.35306	T	0.337591	0.70695	T	0.173385	0.71434	D	0.0112798	0.71064	D	0.487073123455048	0.32157	T	0.836716	0.50835	T	0.048051044	0.08314	0.08709459	0.20222	0.048051044	0.08314	0.08709459	0.20222	-6.371	0.49283	T	.	.	0.293	0.54265	B	.;.	.;.	2.605945	0.33832	19.46	0.94906268821850426	0.25763	0.86876	0.46255	D	AEFBI	0.252597	0.37225	N	0.080405792413933	0.45549	2.80959	0.24344910637771	0.52278	3.403677	0.0148561322583962	0.12646	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.07	5.18	0.71140	2.470000	0.44777	6.284000	0.55386	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.943000	0.48514	0.0:0.231:0.533:0.236	8.004	0.29473	398	0.82839	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2965.33	157	chr2	17931679	.	G	A	2965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.461;DP=2093;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.417;SOR=1.012	GT:AD:DP:GQ:PL	0/1:114,114:228:99:2979,0,3041	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	0/1:47,17:64:17:.:.:17,0,529:.	2	0	17	0
chr2	28541807	28541807	A	T	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon13:c.A908T:p.H303L,PLB1:NM_153021:exon13:c.A875T:p.H292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00239950984416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.04200	T	0.733	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.054507	0.02062	N	2.027840	1	0.08975	N	-1.04	0.01097	N	2.84	0.10771	T	-0.11	0.08653	N	0.101	0.14763	-1.0120	0.26291	T	0.013	0.05225	T	10	0.036420614	0.01939	T	0.002	0.04701	T	0.023	0.04649	0.333	0.32005	0.0611884634855	0.05136	0.2167134197877041	0.21587	0.047464531655	0.05180	0.222294360399	0.01446	T	0.003514	0.02920	T	-0.289759	0.09660	T	-0.653995	0.08676	T	0.0445283730611542	0.04517	T	0.174083	0.01670	T	0.043291528	0.06722	0.03468069	0.02580	0.043291528	0.06721	0.03468069	0.02579	-2.207	0.04103	T	.	.	0.061	0.02578	B	.;.	.;.	-0.758298	0.01192	0.058	0.32392032311040364	0.01874	0.00212	0.01206	N	AEFBI	0.023300	0.01279	N	-1.57790235206728	0.01378	0.06008522	-1.66842990656176	0.01284	0.05788784	0.999446332357001	0.39736	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-6.31	0.01826	-1.015000	0.03748	-0.499000	0.08813	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2062:0.1112:0.1037:0.579	3.575	0.07483	608	0.67185	Phospholipase B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1994.33	34	chr2	28541807	.	A	T	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=802;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.427;SOR=0.84	GT:AD:DP:GQ:PL	0/1:84,81:165:99:2008,0,2193	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	0/1:143,136:279:99:3439,0,3158	16	0	3	0
chr2	64553270	64553270	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375969:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375970:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375971:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375972:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375973:exon2:c.G1796A:p.R599Q,AFTPH:NM_017657:exon2:c.G1796A:p.R599Q,AFTPH:NM_203437:exon2:c.G1796A:p.R599Q	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0105635573149	0.0012	0.000199681	0.0010	0.0002	0.0002	0	0.0003	0.0016	0	0.0004	0.0008991	139	154602	rs145180972	0.0012	0.0012	0.0012	0.0012	0.0047	0.0012	0.0011	0.0033	0.0028	0.0002	0.0010	0.0107	2.519e-05	9.361e-05	0.0047	0.0011	0.0017	0.0005	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0008	0.0023	0.0021	0.0001	0	0.0030	0.0052	0	0.0003	0.0102	0.0011	0.0009	0.0004	0.151	0.24564	T	0.567	0.09588	T	0.999	0.77913	D	0.744	0.55835	P	0.000519	0.43753	D	0.143981	0.918307	0.27353	N	2.43	0.70455	M	1.89	0.23884	T	-0.36	0.13035	N	0.162	0.25867	-0.9407	0.42505	T	0.146	0.46967	T	10	0.0066280365	0.00150	T	0.010564	0.27238	T	0.106	0.30130	.	.	0.395439683604	0.39153	0.09268503856702141	0.09200	0.145550282508	0.16445	0.31736022234	0.13020	T	0.005785	0.05228	T	-0.390562	0.02668	T	-0.36917	0.36985	T	0.0419444429151859	0.04044	T	0.837516	0.51368	T	0.06829398	0.14865	0.066421665	0.13602	0.06829398	0.14865	0.066421665	0.13602	-2.131	0.03764	T	.	.	0.081	0.10256	B	.;.;.	.;.;.	3.608351	0.51007	23.0	0.99494756820086461	0.67687	0.94159	0.60291	D	AEFDBI	0.485845	0.52526	N	0.303078558336739	0.56307	3.795164	0.364641707865849	0.59393	4.116906	0.999957760131871	0.48110	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	5.13	0.69729	3.440000	0.52649	5.710000	0.49419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7339:0.2661	14.489	0.67220	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.004076	0.002924	0.100000	0.000000	0.000000	0.007576	0.05263	2742.83	63	chr2	64553270	.	G	A	2742.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.472;DP=826;ExcessHet=0.119;FS=2.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.713;SOR=0.899	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1270,0,1393	17	0	2	0
chr2	88574904	88574904	G	T	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon13:c.C2126A:p.P709Q,EIF2AK3:NM_004836:exon13:c.C2579A:p.P860Q	Wolcott-Rallison syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0498846459298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.46129	T	0.088	0.40586	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-0.74	0.74371	T	-2.35	0.51968	N	0.532	0.56058	0.088	0.83961	D	0.558	0.83873	D	10	0.5689179	0.65208	D	0.049885	0.64005	D	0.454	0.75347	0.391	0.41443	0.904525955387	0.90357	0.446609520362306	0.44578	0.520348052865	0.49834	0.477595508099	0.35726	T	0.297976	0.67055	T	0.170664	0.71184	D	0.0073712	0.70813	D	0.907645463943481	0.56199	D	0.855714	0.54342	D	0.2170701	0.44181	0.2790056	0.53865	0.2170701	0.44181	0.2790056	0.53864	-3.705	0.19392	T	.	.	0.425	0.60910	A	.;.;.	.;.;.	4.633873	0.73709	26.0	0.99453655488030313	0.65427	0.98233	0.80775	D	AEFBCI	0.852062	0.76896	D	0.808362136524787	0.86628	8.946269	0.804419652660572	0.90098	10.25564	0.99999999999654	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.594000	0.90622	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	19.532	0.95226	841	0.37094	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	46.33	35	chr2	88574904	.	G	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=744;ExcessHet=0;FS=44.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.108;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:60:0|1:88574904_G_T:60,0,4186:88574904	18	0	1	0
chr2	88574905	88574905	G	T	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon13:c.C2125A:p.P709T,EIF2AK3:NM_004836:exon13:c.C2578A:p.P860T	Wolcott-Rallison syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.0553660016972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.45756	T	0.088	0.40586	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.095	0.27400	L	-0.75	0.74477	T	-2.81	0.61435	D	0.519	0.54932	-0.0020	0.82215	T	0.516	0.81869	D	10	0.6433604	0.69185	D	0.055366	0.66207	D	0.483	0.77271	0.397	0.42426	0.898679974086	0.89767	0.4036095341057984	0.40276	1.05760609486	0.76358	0.504642426968	0.39474	T	0.336942	0.70639	T	0.20193	0.74073	D	0.0522815	0.73735	D	0.952494561672211	0.63804	D	0.89891	0.64583	D	0.30674693	0.53503	0.2641103	0.52226	0.30674693	0.53503	0.2641103	0.52225	-3.161	0.12010	T	.	.	0.422	0.60778	A	.;.;.	.;.;.	4.412661	0.68277	25.2	0.99785772459236199	0.87219	0.98233	0.80775	D	AEFBCI	0.839001	0.75645	D	0.758616209016475	0.83464	8.024577	0.772103616091954	0.87796	9.347537	0.99999999999654	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.594000	0.90622	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	19.532	0.95226	841	0.37094	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	46.33	35	chr2	88574905	.	G	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.886;DP=744;ExcessHet=0;FS=44.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.125;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:60:0|1:88574904_G_T:60,0,4186:88574904	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	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|1:217,46:263:99:0|1:94876587_C_A:1278,0,8919:94876587	7	0	12	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|1:264,85:349:99:0|1:94876587_C_A:2775,0,10783:94876587	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|1:281,103:384:99:0|1:94876587_C_A:3433,0,11401:94876587	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	0/1:325,130:455:99:.:.:2699,0,12986:.	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	0/1:303,150:453:99:.:.:5292,0,8688:.	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	0/1:337,105:442:99:.:.:1939,0,8578:.	3	0	16	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	0/1:208,73:281:99:1677,0,5642	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	0/1:276,35:313:99:138,0,8253	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	0/1:172,164:336:99:3749,0,4786	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	0/1:171,108:279:99:3040,0,4841	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	0/1:231,41:272:99:652,0,9047	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	0/1:180,83:263:99:2237,0,5220	0	0	19	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|1:98,46:144:99:0|1:95859969_A_AT:1630,0,3966:95859969	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|1:100,46:146:99:0|1:95859969_A_AT:1624,0,4022:95859969	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|1:100,45:145:99:0|1:95859969_A_AT:1589,0,4025:95859969	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	0/1:102,45:147:99:1462,0,2570	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	0/1:105,39:144:99:.:.:708,0,4184:.	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	0/1:97,41:138:99:.:.:1430,0,3939:.	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|1:86,37:123:99:0|1:95860020_G_A:1295,0,3459:95860020	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|1:86,36:122:99:0|1:95860020_G_A:1253,0,3462:95860020	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	0/1:61,19:80:99:615,0,1791	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|1:149,35:184:99:0|1:95927222_G_GAT:1021,0,6131:95927222	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|1:158,47:205:99:0|1:95927222_G_GAT:1498,0,6472:95927222	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|1:165,61:226:99:0|1:95927222_G_GAT:2065,0,6745:95927222	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|1:194,107:301:99:0|1:95927222_G_GAT:3909,0,7824:95927222	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|1:206,142:348:99:0|1:95927222_G_GAT:5322,0,8174:95927222	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|1:208,147:355:99:0|1:95927222_G_GAT:5425,0,8147:95927222	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|1:143,54:197:99:0|1:95929092_T_C:1783,0,5820:95929092	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|1:177,69:246:99:0|1:95929092_T_C:2364,0,7224:95929092	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|1:195,92:287:99:0|1:95929092_T_C:3276,0,7911:95929092	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|1:199,95:294:99:0|1:95929092_T_C:3390,0,8070:95929092	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|1:203,100:303:99:0|1:95929092_T_C:3555,0,8187:95929092	0	0	19	0
chr2	96826911	96826911	T	C	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_199078:exon2:c.T1304C:p.V435A,CNNM3:NM_017623:exon3:c.T1448C:p.V483A	.	430	1091	1	0	0	1	0.000458085	.	.	.	2346314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0243315530253	.	0.000599042	0.0003	0	0.0007	0	0	0.0004	0.0011	6.057e-05	0.0002717	42	154602	rs144405040	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	0.0002	0.0015	3.826e-05	0	0	0.0003	0.0003	0.0006	0.0001	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0019	0.0017	0.0001	0	0.0025	0	0	0	0	0.0003	0.0005	0	0.703	0.04134	T	0.957	0.04619	T	0.055	0.22733	B	0.089	0.29769	B	0.060139	0.22271	N	0.433417	0.953428	0.26404	N	2.19	0.61577	M	-2.34	0.89953	D	-0.64	0.18670	N	0.237	0.26717	-0.7968	0.55333	T	0.326	0.69410	T	10	0.004407227	0.00090	T	0.024332	0.47317	T	0.171	0.43483	.	.	0.0846915920261	0.08053	0.4019376065826426	0.40109	.	.	0.362865149975	0.19803	T	0.02732	0.20035	T	-0.321116	0.06807	T	-0.279589	0.46845	T	0.0327118191974711	0.02424	T	0.736326	0.36121	T	0.01750225	0.00278	0.024706122	0.00495	0.01750225	0.00278	0.024706122	0.00495	-4.992	0.36753	T	.	.	0.149	0.32922	B	.;.	.;.	1.177027	0.15673	12.02	0.78980832217438079	0.12537	0.15331	0.18859	N	AEFBI	0.081996	0.16597	N	-0.948205390937055	0.09733	0.4619365	-0.856369135430595	0.13135	0.6797102	0.773114624832324	0.23706	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	-1.34	0.08665	-0.061000	0.11650	1.020000	0.23398	-0.109000	0.15193	0.145000	0.23581	1.000000	0.68203	0.998000	0.85391	0.0976:0.0702:0.487:0.3453	6.022	0.18863	128	0.94857	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1275.33	36	chr2	96826911	.	T	C	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.065;DP=723;ExcessHet=0;FS=4.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.209;SOR=0.606	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1289,0,1348	18	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	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|1:111,17:128:99:0|1:97185336_GC_G:380,0,4610:97185336	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|1:113,17:130:99:0|1:97185336_GC_G:374,0,4694:97185336	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|1:114,17:131:99:0|1:97185336_GC_G:371,0,4736:97185336	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|1:123,17:140:99:0|1:97185336_GC_G:344,0,5099:97185336	2	0	17	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,10:145:14:0|1:97243955_G_A:14,0,5529:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,17:134:99:0|1:97243981_C_T:362,0,4841:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,19:131:99:0|1:97243981_C_T:440,0,4646:97243981	7	0	12	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	0|1:122,93:215:99:0|1:97513219_T_C:3538,0,4843:97513219	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	0|1:127,103:230:99:0|1:97513219_T_C:3902,0,5002:97513219	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	0|1:138,125:263:99:0|1:97513244_G_T:4833,0,5367:97513244	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	0|1:141,132:273:99:0|1:97513244_G_T:5103,0,5512:97513244	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	0|1:141,132:273:99:0|1:97513244_G_T:5103,0,5512:97513244	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	0|1:140,142:282:99:0|1:97513268_C_T:5541,0,5410:97513268	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	0|1:142,144:286:99:0|1:97513268_C_T:5599,0,5448:97513268	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	0|1:142,145:287:99:0|1:97513268_C_T:5638,0,5450:97513268	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	0|1:140,151:291:99:0|1:97513268_C_T:5758,0,5313:97513268	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	0/1:107,49:156:99:961,0,2572	0	0	19	0
chr2	98312294	98312294	C	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon22:c.C2801T:p.T934I,VWA3B:NM_144992:exon28:c.C3830T:p.T1277I	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.0129792	0.0115	0.0006	0.0036	0.0503	0.0153	0.0094	0.0078	0.0106	0.0111836	1729	154602	rs2271038	0.0098	0.0098	0.0096	0.0100	0.0573	0.0097	0.0096	0.0554	0.0546	0.0008	0.0048	0.0036	0.0573	0.0130	0.0121	0.0084	0.0087	0.0125	0.0075	0.0075	0.0067	0.0083	0.0493	0.0071	0.0070	0.0444	0.0424	0.0010	0	0.0057	0.0049	0.0493	0.0118	0.0034	0.0080	0.0066	0.0112	0.072	0.34982	T	0.533	0.11371	T	0.261	0.31520	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.33	0.06138	T	-0.53	0.16393	N	0.096	0.07673	-0.9435	0.42057	T	0.002	0.00556	T	9	0.0029001534	0.00046	T	.	.	.	0.067	0.19503	.	.	.	.	0.13017953049751194	0.12942	0.0882361222215	0.09970	0.298939734697	0.10243	T	0.001721	0.01148	T	-0.652809	0.00070	T	-0.667996	0.07738	T	0.0027483472469388	0.00029	T	0.49475	0.15329	T	0.028671041	0.02240	0.04810641	0.07073	0.034224115	0.03797	0.04810641	0.07073	-4.321	0.29435	T	.	.	0.101	0.23605	B	.;.	.;.	0.346239	0.07195	3.786	0.94490893941064569	0.24956	0.06785	0.12808	N	AEFDGBCI	0.045352	0.07407	N	-0.997441856833061	0.08659	0.4068055	-1.04821465623484	0.08744	0.4314253	0.013013184112008	0.12404	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.28	1.25	0.20475	0.293000	0.18785	-0.402000	0.09404	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5643:0.4357:0.0:0.0	9.877	0.40380	434	0.80536	.;.	.	.	.	.	.	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	0.009567	0.010101	0.005435	0.020468	0.000000	0.008621	0.018293	0.000000	0.02632	1486.33	34	chr2	98312294	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=834;ExcessHet=0;FS=9.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.835;SOR=1.403	GT:AD:DP:GQ:PL	0/1:83,55:138:99:1500,0,2174	18	0	1	0
chr2	105280415	105280415	G	A	exonic	TGFBRAP1	.	nonsynonymous SNV	TGFBRAP1:NM_001142621:exon6:c.C1430T:p.T477M,TGFBRAP1:NM_001328646:exon6:c.C1430T:p.T477M,TGFBRAP1:NM_004257:exon6:c.C1430T:p.T477M	.	415	1104	3	0	0	3	0.00135685	.	.	.	2237710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0231548525166	.	0.000199681	8.273e-06	0	0	0	0	0	0	6.099e-05	1.94e-05	3	154602	rs369902946	3.763e-05	3.762e-05	4.084e-05	3.438e-05	0.0002	2.96e-05	2.656e-05	2.995e-05	2.589e-05	0	2.236e-05	0	0	0	0.0002	3.867e-05	6.624e-05	6.957e-05	4.596e-05	5.249e-05	7.71e-05	1.342e-05	0.0002	2.108e-05	1.526e-05	1.972e-05	1.124e-05	2.405e-05	0	6.537e-05	0	0	0	0	5.88e-05	0	0.0002	0.037	0.43085	D	0.033	0.53072	D	0.114	0.26387	B	0.095	0.30245	B	0.000746	0.42006	D	0.273789	0.999991	0.08975	N	1.61	0.41143	L	0.94	0.43672	T	-1.18	0.30140	N	0.176	0.19190	-0.9773	0.35616	T	0.106	0.38636	T	10	0.16033137	0.30101	T	0.023155	0.46105	T	0.048	0.13305	0.489	0.57415	0.444404870569	0.44059	0.17543141139359755	0.17462	0.60250010159	0.55259	0.386988162994	0.23245	T	0.219252	0.58220	T	-0.260834	0.12804	T	-0.515593	0.20741	T	0.424055874347687	0.29840	T	0.882412	0.60266	D	0.04832573	0.08403	0.0864096	0.20019	0.04832573	0.08403	0.0864096	0.20018	-6.06	0.46778	T	.	.	0.078	0.07365	B	.;.;.	.;.;.	3.429755	0.47660	22.5	0.99599244481225657	0.74101	0.84429	0.43511	D	AEFBI	0.244449	0.36556	N	-0.33161347602214	0.27953	1.537865	-0.299118183042598	0.28128	1.565865	0.998548831382073	0.37167	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.53	0.55009	4.027000	0.56949	8.517000	0.77410	0.676000	0.76740	0.918000	0.31901	1.000000	0.68203	0.683000	0.33629	0.072:0.0:0.928:0.0	14.220	0.65362	926	0.17793	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1;Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1;Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1174.33	33	chr2	105280415	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=724;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.032;SOR=0.976	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1188,0,1101	18	0	1	0
chr2	106457568	106457568	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon3:c.G251C:p.R84T	.	.	.	.	.	.	.	.	0.0001	0	.	2199101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0267196708753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369411358	3.256e-05	1.968e-05	1.463e-05	4.837e-05	0.0004	2.082e-05	1.677e-05	7.096e-05	5.171e-05	0	0	0	0	0	0.0004	1.11e-05	0.0002	0.0001	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.059	0.23051	B	0.086	0.29521	B	.	.	.	.	0.993833	0.23639	N	0	0.06538	N	-0.07	0.63738	T	-2.3	0.51157	N	0.31	0.37301	-0.9761	0.35882	T	0.107	0.39051	T	9	0.2208744	0.38797	T	0.02672	0.49603	D	0.148	0.39182	0.574	0.69826	0.101711395817	0.09552	0.0652353595106193	0.06462	.	.	0.791073262691	0.80606	T	0.015987	0.13301	T	-0.0719523	0.41013	T	-0.341131	0.40215	T	0.29386064548116	0.24750	T	0.955304	0.82980	D	0.11493519	0.27128	0.19044435	0.42448	0.11493519	0.27128	0.19044435	0.42447	-6.423	0.49688	T	.	.	0.244	0.52426	B	.;.	.;.	3.197952	0.43478	21.7	0.911450287257069	0.20398	0.74841	0.36622	D	AEFI	0.528763	0.55015	D	-0.62087764688303	0.18317	0.950055	-0.557507303076289	0.20607	1.111003	1.56512949094587E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.36	1.16	0.19936	3.609000	0.53867	6.122000	0.53799	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.3536:0.0:0.6464	4.333	0.10514	882	0.29131	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	105.33	17	chr2	106457568	.	C	G	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.94;MQRankSum=-1.847;QD=4.05;ReadPosRankSum=0.463;SOR=0.787	GT:AD:DP:GQ:PL	0/1:19,7:26:99:119,0,482	18	0	1	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	0/1:116,90:206:99:.:.:3434,0,4560:.	6	3	9	1
chr2	110794148	110794148	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon5:c.G319A:p.E107K,ACOXL:NM_001365487:exon5:c.G319A:p.E107K,ACOXL:NM_001371254:exon5:c.G319A:p.E107K	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0031	0.00858626	0.0072	0.0012	0.0054	0.0001	0.0036	0.0048	0.0101	0.0267	0.0067011	1036	154602	rs150003283	0.0057	0.0057	0.0050	0.0064	0.0278	0.0056	0.0056	0.0269	0.0265	0.0010	0.0045	0.0067	0	0.0039	0.0137	0.0044	0.0058	0.0278	0.0046	0.0046	0.0044	0.0047	0.0313	0.0043	0.0042	0.0272	0.0257	0.0009	0.0132	0.0052	0.0037	0.0002	0.0052	0.0204	0.0048	0.0066	0.0313	0.181	0.38633	T	0.997	0.12281	T	0.963	0.55692	D	0.49	0.47330	P	0.017858	0.27622	N	0.269326	0.643766	0.32900	D	0.02	0.07987	N	-3.54	0.94799	D	-1.11	0.28703	N	0.454	0.51137	0.418	0.89363	D	0.620	0.86605	D	10	0.012831628	0.00274	T	.	.	.	0.417	0.72705	.	.	0.759181903428	0.75699	0.4340138023773377	0.43318	0.480607175355	0.47077	0.413700193167	0.26968	T	0.24249	0.61124	T	-0.200347	0.20756	T	-0.0409645	0.67637	D	0.01714679548178	0.00459	T	0.789521	0.45334	T	0.034968484	0.04025	0.05617905	0.09992	0.034968484	0.04025	0.05617905	0.09992	-6.138	0.55811	T	.	.	0.102	0.20235	B	.;.;.	.;.;.	2.961285	0.39439	21.0	0.99908643534056318	0.97875	0.70441	0.34591	D	AEFBI	0.114364	0.22529	N	-0.0346067539696674	0.40293	2.390379	-0.0312167145111858	0.38313	2.255471	0.988516361138336	0.31541	0.719381	0.83141	0	0.610034	0.51514	0	0.723133	0.82415	0	0.530356	0.10902	0	.	.	5.33	3.53	0.39533	2.062000	0.41039	0.634000	0.20256	0.676000	0.76740	0.990000	0.36992	0.084000	0.22431	0.987000	0.62547	0.0824:0.1491:0.7686:0.0	9.015	0.35324	867	0.32089	Acyl-CoA oxidase/dehydrogenase, central 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	0.011581	0.005051	0.013587	0.008772	0.000000	0.008621	0.012195	0.018939	0.05263	2361.83	33	chr2	110794148	.	G	A	2361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=817;ExcessHet=0.119;FS=1.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.45;SOR=0.832	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1456,0,1121	17	0	2	0
chr2	111092935	111092935	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon17:c.C1511T:p.T504I,ACOXL:NM_001371254:exon18:c.C1601T:p.T534I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	.	0.00898562	0.0050	9.612e-05	0.0003	0	0	1.499e-05	0.0044	0.0365	0.0044178	683	154602	rs375847802	0.0023	0.0023	0.0013	0.0033	0.0360	0.0022	0.0022	0.0350	0.0346	0.0001	6.709e-05	3.827e-05	0.0002	0	0.0017	5.666e-05	0.0023	0.0360	0.0013	0.0013	0.0006	0.0021	0.0406	0.0012	0.0011	0.0360	0.0342	7.229e-05	0	0	0	0.0004	0	0.0034	1.47e-05	0	0.0406	0.08	0.33585	T	0.019	0.63109	D	0.347	0.33585	B	0.248	0.38946	B	0.009584	0.30291	N	0.269725	0.656032	0.33008	D	2.215	0.62545	M	0.73	0.50721	T	-3.65	0.69950	D	0.294	0.41459	-0.9652	0.38171	T	0.137	0.45337	T	10	0.0046423674	0.00097	T	.	.	.	0.207	0.49555	0.572	0.69564	0.434272847907	0.43049	0.40634966700123853	0.40550	0.355027518676	0.37268	0.497088760138	0.38422	T	0.032712	0.22604	T	-0.284399	0.10207	T	-0.155533	0.58752	T	0.0253618148546537	0.01320	T	0.725127	0.33902	T	0.50962067	0.67657	0.4348326	0.66990	0.50962067	0.67658	0.4348326	0.66990	-6.641	0.66525	T	.	.	0.440	0.61775	A	.;.;.	.;.;.	1.013970	0.13930	10.49	0.99372470325919959	0.61498	0.16611	0.19469	N	AEFBI	0.074752	0.14992	N	-0.481965154704816	0.22673	1.212245	-0.50776382060406	0.21941	1.189402	0.00113357524713481	0.08261	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.530356	0.10902	0	.	.	5.97	2.14	0.26518	0.241000	0.17843	0.376000	0.17729	0.599000	0.40250	0.162000	0.23825	0.025000	0.21018	0.708000	0.34389	0.2552:0.5518:0.1233:0.0697	5.457	0.15894	783	0.47268	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, 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	0.002535	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	726.33	33	chr2	111092935	.	C	T	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=663;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.133;SOR=1.07	GT:AD:DP:GQ:PL	0/1:30,30:60:99:740,0,696	18	0	1	0
chr2	120222370	120222370	C	T	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.G607A:p.V203I	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0063	0	0	0	0	0.0003	0	0.0102	0.0005692	88	154602	rs551008780	0.0006	0.0006	0.0003	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	3.165e-05	0	0	2.798e-05	0	0.0014	5.005e-05	0.0007	0.0094	0.0003	0.0003	0.0002	0.0004	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0.0002	0	0	0	0	0.0101	0.71	0.04044	T	0.501	0.11153	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.997567	0.22606	N	-1.995	0.00197	N	1.97	0.22067	T	0.19	0.04947	N	0.037	0.01135	.	.	.	.	.	.	.	0.004203975	0.00084	T	.	.	.	.	.	.	.	0.537262924806	0.53376	0.3218051688916848	0.32093	0.187302612443	0.21046	0.550898313522	0.45984	T	0.001997	0.01403	T	-0.656454	0.00066	T	-0.708621	0.05366	T	.	.	.	0.605739	0.22785	T	0.024513133	0.01291	0.034353644	0.02486	0.024513133	0.01291	0.034353644	0.02486	-4.439	0.30082	T	.	.	0.079	0.07318	B	.	.	2.512071	0.32444	19.04	0.95413741429505683	0.26883	0.76041	0.37265	D	AEFDGBCI	0.184390	0.31171	N	.	.	.	.	.	.	0.999999768463324	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.99	3.12	0.34986	4.602000	0.60805	.	.	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.0:0.7844:0.0:0.2156	6.308	0.20358	788	0.46569	.	.	.	.	.	.	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	0.000888	0.000000	0.000000	0.000000	0.000000	0.000000	0.004854	0.000000	0.05263	5335.83	33	chr2	120222370	.	C	T	5335.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.96;DP=991;ExcessHet=0.119;FS=1.112;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.739;SOR=0.821	GT:AD:DP:GQ:PL	0/1:104,112:216:99:3178,0,2704	17	0	2	0
chr2	127584202	127584202	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon13:c.A1424G:p.E475G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	0.10732360849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.56640	D	0.999	0.77913	D	0.978	0.74104	D	0.000188	0.48115	D	0.144593	0.999981	0.54805	D	3.445	0.92174	M	-1.01	0.76168	T	-5.4	0.85103	D	0.653	0.66358	0.744	0.93722	D	0.734	0.90905	D	10	0.90357494	0.89721	D	0.107324	0.78335	D	0.824	0.94390	0.761	0.88972	0.94079720839	0.94018	0.6429946623745841	0.64234	0.48238453677	0.47196	0.453015327454	0.32355	T	0.563075	0.85408	D	0.208094	0.74651	D	0.0611368	0.74321	D	0.996837973594666	0.90180	D	0.933807	0.75196	D	0.82847315	0.85797	0.87348205	0.93107	0.82847315	0.85798	0.87348205	0.93107	-8.407	0.63811	D	.	.	0.157	0.34819	B	.;.	.;.	4.496166	0.70279	25.5	0.99925808102488467	0.99042	0.98568	0.84190	D	AEFDBI	0.955264	0.97297	D	0.966126932003136	0.94603	12.88902	0.858461216109364	0.93500	12.08445	0.99999999619017	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	4.7	0.58776	9.260000	0.94752	11.076000	0.85665	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.612	0.68119	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, 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	.	.	.	.	.	.	.	.	0.02632	1703.33	34	chr2	127584202	.	A	G	1703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.087;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.354;SOR=0.738	GT:AD:DP:GQ:PL	0/1:101,69:170:99:1717,0,2638	18	0	1	0
chr2	130356160	130356160	G	T	exonic	PTPN18	.	nonsynonymous SNV	PTPN18:NM_001142370:exon1:c.G53T:p.R18L,PTPN18:NM_014369:exon1:c.G53T:p.R18L	.	404	1117	1	0	0	1	0.000447427	.	.	.	2392486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0029542695144	.	.	0.0045	0	0	0	0	0.0091	.	0	9.7e-05	15	154602	rs372603340	6.807e-05	0.0001	4.489e-05	9.3e-05	0.0015	5.554e-05	5.141e-05	0.0012	0.0011	0	0	0	0	0	0	4.134e-06	0.0003	0.0015	2.631e-05	2.625e-05	3.861e-05	1.345e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.263	0.91255	T	0.274	0.22084	T	0.005	0.12996	B	0.002	0.06944	B	0.572476	0.11224	N	0.674479	1	0.08975	N	1.075	0.27130	L	3.03	0.15028	T	-0.4	0.13805	N	0.107	0.15609	-0.9748	0.36170	T	0.022	0.09147	T	10	0.0066203177	0.00150	T	0.002954	0.06280	T	0.006	0.00375	0.463	0.53242	0.273503213844	0.26977	0.1747270780649372	0.17391	0.220064939331	0.24547	0.650236725807	0.60019	T	0.005437	0.04891	T	-0.477144	0.00769	T	-0.601194	0.12710	T	0.0211204341531509	0.00814	T	0.675032	0.29705	T	0.15829729	0.35620	0.1066199	0.25653	0.15829729	0.35620	0.1066199	0.25652	-5.005	0.36894	T	.	.	0.113	0.28693	B	.;.	.;.	0.904250	0.12785	9.300	0.65219115854944798	0.07711	0.24826	0.22513	N	ALL	0.042205	0.06520	N	-1.28039013476445	0.03911	0.1756172	-1.32978948808855	0.04050	0.1902261	0.999999999999663	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.58	-0.726	0.10606	0.195000	0.16960	.	.	-0.795000	0.03215	0.000000	0.06391	0.001000	0.17328	0.024000	0.12247	0.2168:0.0:0.4324:0.3509	3.286	0.06523	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	.	.	.	.	.	.	.	.	0.02632	479.33	33	chr2	130356160	.	G	T	479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.714;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,19:36:99:0|1:130356160_G_T:493,0,342:130356160	18	0	1	0
chr2	130657714	130657714	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2954T:p.P985L	.	74	1431	17	0	0	17	0.00590483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00319489	0.0132	0.0015	0.0078	0	0.0020	0.0050	0.0408	0.0317	0.0007684	20	26028	rs552095587	0.0015	0.0015	0.0011	0.0019	0.0128	0.0015	0.0015	0.0121	0.0119	0.0003	0.0007	0.0063	2.632e-05	6.057e-05	0.0082	0.0006	0.0020	0.0128	0.0011	0.0011	0.0011	0.0011	0.0126	0.0009	0.0009	0.0097	0.0087	0.0005	0	0.0007	0.0068	0	0	0.0037	0.0007	0.0006	0.0126	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.977524	0.39375	D	3.655	0.94224	H	2.73	0.11839	T	-8.19	0.96809	D	0.324	0.36464	-1.0053	0.28368	T	0.099	0.36882	T	7	0.012013733	0.00260	T	.	.	.	0.181	0.45247	.	.	0.462111473445	0.45839	0.02712786375202906	0.02662	.	.	.	.	.	0.598495	0.87097	D	-0.49592	0.00603	T	-0.472807	0.25214	T	0.0969079647454294	0.12013	T	0.974802	0.91047	D	0.36426046	0.58158	0.28347903	0.54341	0.36426046	0.58159	0.28347903	0.54340	-8.023	0.61227	D	.	.	0.379	0.58352	A	.	.	2.518707	0.32546	19.07	0.98912866454171977	0.48399	0.52235	0.29083	D	AEFI	.	.	.	-0.170624640995066	0.34360	1.960361	-0.423347139363444	0.24314	1.330746	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	5.537000	0.66897	.	.	0.196000	0.17891	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:0.9999:0.0:1.0E-4	6.920	0.23561	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	.	.	.	.	.	.	.	.	0.05263	628.83	21	chr2	130657714	.	C	T	628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=428;ExcessHet=0.119;FS=2.373;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=35.37;MQRankSum=1.02;QD=13.38;ReadPosRankSum=-0.528;SOR=0.233	GT:AD:DP:GQ:PL	0/1:5,12:17:99:397,0,150	17	0	2	0
chr2	132784935	132784935	A	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.T1876C:p.S626P	.	439	1073	10	0	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.012434163557	8.3e-05	0.000998403	0.0011	0.0001	0	0.0005	0	0.0004	0	0.0081	0.0009185	142	154602	rs201000665	0.0005	0.0005	0.0004	0.0007	0.0063	0.0005	0.0005	0.0058	0.0057	6.085e-05	0.0002	0	0.0005	0	0.0018	0.0002	0.0005	0.0063	0.0006	0.0006	0.0003	0.0009	0.0067	0.0005	0.0005	0.0048	0.0042	4.814e-05	0	0.0025	0	0.0002	0	0.0034	0.0003	0.0005	0.0067	0.011	0.55530	D	0.099	0.38891	T	0.42	0.35330	B	0.197	0.36707	B	0.254944	0.15432	U	0.466067	1	0.18198	N	2.155	0.60227	M	0.84	0.47477	T	-1.7	0.40468	N	0.186	0.20262	-1.0094	0.27105	T	0.095	0.35791	T	10	0.0037727058	0.00070	T	0.012434	0.30996	T	0.076	0.22200	.	.	0.082315109003	0.07666	0.076513547544345	0.07587	0.0490270278888	0.05361	0.30133664608	0.10600	T	0.005112	0.04549	T	-0.481841	0.00721	T	-0.462988	0.26274	T	0.0273570029385819	0.01594	T	0.50265	0.15781	T	0.20821725	0.43051	0.24029279	0.49400	0.20821725	0.43051	0.24029279	0.49399	-3.727	0.19717	T	.	.	0.078	0.07036	B	.;.	.;.	0.716596	0.10854	7.532	0.98996354087645733	0.50044	0.13105	0.17666	N	AEFBI	0.166332	0.29291	N	-0.618814560407376	0.18379	0.9537493	-0.674466003117495	0.17600	0.9365959	3.57138190330216E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	1.95	0.25130	1.188000	0.31711	.	.	0.751000	0.87719	0.131000	0.23362	0.007000	0.19602	0.113000	0.18872	0.7842:0.0:0.2158:0.0	8.598	0.32887	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	6366.83	37	chr2	132784935	.	A	G	6366.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.219;DP=2178;ExcessHet=0.119;FS=1.739;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.56;SOR=0.816	GT:AD:DP:GQ:PL	0/1:142,129:271:99:3262,0,3581	17	0	2	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L,RAB3GAP1:NM_012233:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	862	0.33134	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	489.92	33	chr2	135153721	.	G	C	489.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.996;DP=1209;ExcessHet=0.3672;FS=266.608;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.64;SOR=9.926	GT:AD:DP:GQ:PL	0/1:132,59:191:99:302,0,2593	15	0	3	1
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:8:0|1:151680729_C_T:8,0,4767:151680729	12	0	6	1
chr2	159229661	159229661	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.G3632A:p.R1211H,TANC1:NM_001350063:exon25:c.G3866A:p.R1289H,TANC1:NM_001350064:exon27:c.G4214A:p.R1405H,TANC1:NM_033394:exon27:c.G4235A:p.R1412H,TANC1:NM_001350065:exon28:c.G4214A:p.R1405H	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.0831228060382	0.0002	0.00119808	0.0007	0	0.0006	0.0001	0	0.0005	0.0022	0.0025	0.0006404	99	154602	rs201882245	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0004	0.0025	0.0024	8.961e-05	0.0004	0.0003	0	7.496e-05	0.0014	0.0004	0.0006	0.0028	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	4.817e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0.0005	0.0027	0.017	0.51248	D	0.003	0.76473	D	0.995	0.67487	D	0.758	0.56327	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.87	0.74583	T	-3.6	0.69357	D	0.507	0.53884	-0.1203	0.79627	T	0.504	0.81315	D	9	0.017304182	0.00368	T	0.083123	0.74047	D	0.516	0.79340	.	.	0.78657237741	0.78459	0.5392971891969099	0.53854	0.719350977625	0.62131	0.510847449303	0.40342	T	0.594865	0.86930	D	-0.244414	0.14792	T	-0.127851	0.61152	T	0.117754386827483	0.14208	T	0.996967	0.98830	D	0.3567762	0.57590	0.16929331	0.38953	0.3567762	0.57590	0.16929331	0.38952	-10.049	0.74204	D	.	.	0.674	0.71913	P	.	.	5.377096	0.90129	31	0.99927895526742894	0.99163	0.99830	0.99731	D	AEFDBI	0.902390	0.85023	D	0.810506191536066	0.86760	8.989708	0.839601065884331	0.92395	11.40132	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.566861	0.19136	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.958000	0.99013	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.293	0.98545	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1366.33	33	chr2	159229661	.	G	A	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.024;DP=709;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.509;SOR=1.139	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1380,0,1058	18	0	1	0
chr2	169211992	169211992	T	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon37:c.A6256T:p.T2086S	Donnai-Barrow syndrome, Autosomal recessive	1	1489	31	1	0	33	0.0109598	.	.	.	282716	Donnai-Barrow_syndrome|LRP2-related_disorder|DSD_incomplete_virilization|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|.|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0004	0.00219649	0.0015	9.694e-05	0.0002	0.0001	0	0.0010	0.0033	0.0066	0.0013777	213	154602	rs146149181	0.0010	0.0010	0.0008	0.0012	0.0087	0.0010	0.0009	0.0068	0.0061	2.988e-05	0.0002	0.0098	2.519e-05	0	0.0087	0.0004	0.0019	0.0066	0.0007	0.0007	0.0007	0.0007	0.0071	0.0006	0.0005	0.0052	0.0045	0	0	0.0001	0.0078	0	0	0.0136	0.0005	0.0014	0.0071	0.045	0.40832	D	0.072	0.43344	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.049477	0.840605	0.28636	N	-0.935	0.01286	N	-2.73	0.90679	D	0.64	0.02368	N	0.097	0.07811	-0.3355	0.73974	T	0.459	0.78992	T	10	0.0057308376	0.00128	T	.	.	.	0.319	0.64112	0.34	0.33141	0.262679179196	0.25893	0.401373352216543	0.40052	0.213517207137	0.23864	0.333176523447	0.15413	T	0.062169	0.31846	T	-0.420928	0.01687	T	-0.374521	0.36360	T	0.041402267804435	0.03945	T	0.754725	0.37732	T	0.12659773	0.29647	0.14224476	0.33846	0.12102871	0.28469	0.18182682	0.41070	-3.808	0.20924	T	0.14272205938023666	0.16163	0.115	0.23041	B	.;.	.;.	2.518492	0.32539	19.07	0.9836469207651185	0.40678	0.91023	0.52710	D	AEFBI	0.571408	0.57540	D	-0.393648514411365	0.25693	1.396717	-0.152797696815702	0.33301	1.903465	0.999682378136073	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	4.75	0.59954	3.807000	0.55295	5.973000	0.52033	-0.201000	0.08892	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.925:0.0:0.075	13.767	0.62488	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	0	0	1	0	0.009577	0.000000	0.000000	0.017544	0.000000	0.025862	0.018405	0.011364	0.05263	2601.83	34	chr2	169211992	.	T	A	2601.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.93;DP=772;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.633;SOR=0.666	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1510,0,1195	17	0	2	0
chr2	175964413	175964413	G	C	exonic	LNPK	.	nonsynonymous SNV	LNPK:NM_001305011:exon6:c.C83G:p.P28R,LNPK:NM_001305010:exon7:c.C458G:p.P153R,LNPK:NM_001305008:exon8:c.C650G:p.P217R,LNPK:NM_001305009:exon8:c.C452G:p.P151R,LNPK:NM_030650:exon8:c.C452G:p.P151R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00340863451272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.16091	T	0.537	0.13634	T	0.022	0.18677	B	0.009	0.14300	B	0.009877	0.30165	N	0.384655	0.564945	0.32244	D	0.49	0.13296	N	.	.	.	-1.28	0.32185	N	0.286	0.36359	-0.9222	0.45252	T	0.066	0.27191	T	9	0.092626005	0.16326	T	0.003409	0.07664	T	0.021	0.04004	0.254	0.19378	0.507213507908	0.50361	0.17800671877754637	0.17719	0.146693973692	0.16557	0.441379189491	0.30766	T	0.18572	0.53878	T	-0.139487	0.29973	T	-0.43814	0.29017	T	0.346794277429581	0.26892	T	0.867913	0.56927	D	0.115037434	0.27150	0.08821551	0.20554	0.115037434	0.27150	0.08821551	0.20553	-5.836	0.44887	T	.	.	0.131	0.33412	B	.;.;.	.;.;.	3.844572	0.55656	23.6	0.85514439050494717	0.15940	0.74626	0.36511	D	AEFDBHCI	0.332882	0.43215	N	0.0101475605445195	0.42315	2.547338	0.167607134049056	0.48084	3.029086	0.505279178688695	0.20976	0.656854	0.48797	0	0.69481	0.67340	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	5.2	4.31	0.50718	2.512000	0.45146	8.699000	0.78102	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.998000	0.85391	0.2267:0.0:0.7733:0.0	7.950	0.29174	524	0.74079	.;.;.	.	.	.	.	.	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	731.33	36	chr2	175964413	.	G	C	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=668;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.475;SOR=0.315	GT:AD:DP:GQ:PL	0/1:16,29:45:99:745,0,341	18	0	1	0
chr2	178748073	178748073	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.T14327C:p.L4776S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1514	5	2	0	9	0.00296345	.	.	.	56935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	.	0.00259585	0.0016	0	0.0017	0.0001	0	0.0002	0.0022	0.0098	0.0014036	217	154602	rs142132973	0.0009	0.0009	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0011	0.0002	5.048e-05	0	0.0092	0.0002	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0089	0.0004	0.0004	0.0068	0.0061	2.409e-05	0	0.0005	0.0003	0.0002	0	0	0.0003	0.0009	0.0089	0.0	0.91255	D	0.413	0.14412	T	0.013	0.16609	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	-0.49	0.70365	T	1.61	0.00644	N	0.133	0.12913	-0.8046	0.54873	T	0.247	0.61647	T	9	0.003499031	0.00062	T	.	.	.	0.114	0.32008	.	.	0.415820034956	0.41198	.	.	.	.	.	.	.	.	.	.	-0.57488	0.00207	T	-0.591303	0.13552	T	0.0135396634239514	0.00249	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-3.488	0.16265	T	.	.	.	.	.	.	.	-0.157106	0.03316	0.578	0.99023995424720712	0.50634	0.09458	0.15209	N	ALL	0.060665	0.11546	N	-1.01190128807363	0.08356	0.391508	-1.05563316139597	0.08590	0.4230754	0.999981579601552	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	6.05	-0.358	0.11950	0.142000	0.15917	.	.	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.553:0.0:0.447:0.0	10.317	0.42927	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	2854.33	35	chr2	178748073	.	A	G	2854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=1073;ExcessHet=0;FS=5.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.579;SOR=0.983	GT:AD:DP:GQ:PL	0/1:115,111:226:99:2868,0,3220	18	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.33	33	chr2	178776739	.	G	C	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.822;DP=1051;ExcessHet=0;FS=96.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.65;SOR=6.438	GT:AD:DP:GQ:PL	0/1:111,24:135:64:64,0,2700	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,6:36:33:0|1:186504215_G_C:33,0,729:186504215	6	0	11	2
chr2	186508609	186508611	ACA	-	exonic	ZC3H15	.	nonframeshift deletion	ZC3H15:NM_018471:exon10:c.1157_1159del:p.N387del	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001294	20	154602	rs771050701	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	2.988e-05	0.0002	0	0	0	0.0012	0.0001	0.0004	0.0002	7.224e-05	7.218e-05	8.996e-05	5.371e-05	0.0002	3.969e-05	3.126e-05	6.805e-05	5.088e-05	2.406e-05	0	0	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1197.29	34	chr2	186508608	.	GACA	G	1197.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=696;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.498;SOR=0.439	GT:AD:DP:GQ:PL	0/1:44,32:76:99:1211,0,1751	18	0	1	0
chr2	188997207	188997207	C	A	exonic	COL3A1	.	nonsynonymous SNV	COL3A1:NM_000090:exon25:c.C1804A:p.P602T	Ehlers-Danlos syndrome, type IV, Autosomal dominant	6	1480	34	2	0	38	0.0126751	.	.	YES	140548	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_provided|not_specified|Ehlers-Danlos_syndrome,_type_4	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	.	0.0051	0.00459265	0.0044	0.0028	0.0035	0	0.0023	0.0063	0.0044	0.0013	0.0045148	698	154602	rs35795890	0.0056	0.0056	0.0056	0.0056	0.0231	0.0055	0.0055	0.0199	0.0187	0.0038	0.0044	0.0054	0	0.0026	0.0231	0.0062	0.0067	0.0015	0.0051	0.0051	0.0054	0.0048	0.0088	0.0048	0.0047	0.0076	0.0072	0.0032	0.0022	0.0088	0.0061	0	0.0029	0.0170	0.0062	0.0137	0.0004	0.257	0.16738	T	0.194	0.34596	T	0.5	0.37145	P	0.491	0.47360	P	0.000167	0.48594	D	0.000000	0.999987	0.54805	D	2.17	0.60663	M	-3.21	0.93291	D	-2.94	0.61435	D	0.538	0.56576	0.468	0.90086	D	0.750	0.91461	D	10	0.019590318	0.00440	T	.	.	.	0.432	0.73807	.	.	0.666604380541	0.66380	0.505887764471684	0.50510	0.701659533164	0.61175	0.552785634995	0.46250	T	0.74382	0.92926	D	-0.212023	0.19096	T	-0.0741653	0.65329	T	0.0324853885028538	0.02385	T	0.956971	0.83666	D	0.1438616	0.33047	0.182762	0.41223	0.12463344	0.29238	0.18800995	0.42066	-5.25	0.40455	T	0.17285243274658627	0.21869	0.059	0.00780	B	.;.	.;.	2.711398	0.35441	19.90	0.98417760763383189	0.41244	0.98382	0.82208	D	AEFBI	0.830994	0.74962	D	0.363796007484067	0.59471	4.126867	0.465489916956993	0.65717	4.859266	0.999754629188474	0.42595	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.03	6.03	0.97798	2.990000	0.49090	2.034000	0.30268	0.599000	0.40250	0.989000	0.36753	0.975000	0.29991	0.932000	0.46971	0.0:1.0:0.0:0.0	20.155	0.98103	839	0.37672	.;.	.	.	.	.	.	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	0.019637	0.035354	0.027174	0.017544	0.050000	0.034483	0.012195	0.003788	0.02632	2687.33	33	chr2	188997207	.	C	A	2687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=951;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.462;SOR=0.597	GT:AD:DP:GQ:PL	0/1:137,113:250:99:2701,0,3335	18	0	1	0
chr2	195738049	195738049	G	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon65:c.C11947T:p.R3983W	.	432	1075	14	1	0	16	0.00738689	.	.	.	590986	Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation|Abdominal_situs_inversus|Primary_ciliary_dyskinesia|not_provided	MedGen:C5681165,Orphanet:399805|Human_Phenotype_Ontology:HP:0003363,MedGen:C0037221|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.545	.	0.0075	0.00439297	0.0087	0.0017	0.0033	0	0.0123	0.0118	0.01	0.0068	0.0085898	1328	154602	rs114621989	0.0092	0.0092	0.0092	0.0091	0.0100	0.0090	0.0090	0.0099	0.0098	0.0016	0.0041	0.0044	5.039e-05	0.0136	0.0050	0.0100	0.0078	0.0077	0.0072	0.0071	0.0076	0.0067	0.0105	0.0068	0.0067	0.0098	0.0096	0.0016	0.0395	0.0058	0.0040	0.0002	0.0125	0.0034	0.0105	0.0038	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.68	0.99435	H	1.4	0.33630	T	-7.69	0.95603	D	0.955	0.96416	-0.0663	0.80860	T	0.307	0.67759	T	10	0.014028847	0.00296	T	.	.	.	0.545	0.81077	.	.	0.475352637851	0.47162	0.9096751928006794	0.90941	0.237508045894	0.26287	0.696987569332	0.66709	T	0.273031	0.64546	T	-0.0849219	0.38912	T	0.115627	0.77943	D	0.122496466792581	0.14672	T	0.998616	0.99247	D	0.8600765	0.88091	0.82640654	0.89951	0.8600765	0.88093	0.7841544	0.87284	-13.08	0.91789	D	.	.	0.945	0.86403	P	.;.	.;.	4.773758	0.77302	26.7	0.99882093547858575	0.95813	0.75467	0.36951	D	AEFDGBCI	0.728546	0.67653	D	0.655860558299101	0.76749	6.544172	0.441226445923178	0.64155	4.664338	0.999894865939282	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.591603	0.36755	0	.	.	4.51	3.59	0.40253	2.355000	0.43761	3.671000	0.39437	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:0.4753:0.5247	11.010	0.46872	926	0.17793	.;Dynein heavy chain 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	0.007599	0.000000	0.009511	0.005917	0.000000	0.000000	0.009259	0.007634	0.02632	971.33	34	chr2	195738049	.	G	A	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.626;DP=771;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.29;SOR=0.616	GT:AD:DP:GQ:PL	0/1:65,46:111:99:985,0,1648	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	0/1:52,27:79:99:.:.:226,0,776:.	1	0	17	1
chr2	201492274	201492274	G	A	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.C4067T:p.S1356F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0498141286641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	0.977	0.39309	D	.	.	.	0.0	0.62608	T	-2.91	0.60982	D	0.165	0.17416	-0.8809	0.49689	T	0.146	0.47074	T	9	0.13421261	0.25544	T	0.049814	0.63975	D	0.064	0.18567	0.275	0.22687	0.431931272081	0.42809	0.04933575002135199	0.04876	0.637029871856	0.57456	0.386210799217	0.23134	T	.	.	.	-0.139289	0.30003	T	-0.437856	0.29048	T	0.37457873749791	0.27974	T	0.485951	0.14839	T	.	.	.	.	.	.	.	.	-5.139	0.38315	T	.	.	0.161	0.35519	B	.	.	3.457220	0.48168	22.6	0.98654674389303443	0.44247	0.40596	0.26472	N	AEFBI	0.120457	0.23464	N	-0.313353323741673	0.28639	1.581389	-0.321712996077783	0.27398	1.520029	0.00156107474826205	0.08639	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	4.28	0.50183	2.362000	0.43823	.	.	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.451000	0.27917	0.0876:0.0:0.9124:0.0	10.999	0.46808	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	840.33	33	chr2	201492274	.	G	A	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.31;SOR=0.76	GT:AD:DP:GQ:PL	0/1:38,29:67:99:854,0,1086	18	0	1	0
chr2	215312569	215312569	C	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon2:c.C91A:p.L31M	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0832995436849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.76473	D	0.999	0.77913	D	0.993	0.81110	D	0.000001	0.84330	D	0.000000	0.74087	0.44627	D	3.46	0.92336	M	-2.27	0.87433	D	-1.66	0.39692	N	0.709	0.71232	0.690	0.93047	D	0.808	0.93529	D	10	0.9492437	0.94256	D	0.083	0.74086	D	0.570	0.82516	0.771	0.89767	0.795510299367	0.79361	0.812856599216048	0.81241	0.341759167531	0.36122	0.505860984325	0.39644	T	0.595252	0.86948	D	0.149181	0.69191	D	-0.0234882	0.68799	D	0.927677154541016	0.59067	D	0.905209	0.66592	D	0.9412078	0.95370	0.8144793	0.89185	0.9412078	0.95370	0.8144793	0.89186	-8.018	0.61193	D	0.3935345708451892	0.48638	0.258	0.52235	B	.;.	.;.	3.852242	0.55811	23.7	0.99260256862276641	0.57188	0.56926	0.30243	D	ALL	0.163069	0.28931	N	0.209923511369435	0.51680	3.347337	-0.0191787872003842	0.38849	2.294792	0.999999266391183	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.65	3.84	0.43422	1.112000	0.30786	1.311000	0.25538	0.599000	0.40250	0.639000	0.28076	0.739000	0.26469	0.490000	0.28791	0.0:0.7839:0.0:0.2161	9.774	0.39777	687	0.59234	Methylglyoxal synthase-like domain|Methylglyoxal synthase-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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	34	chr2	215312569	.	C	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.106;SOR=0.699	GT:AD:DP:GQ:PL	0/1:92,58:150:99:1388,0,2197	18	0	1	0
chr2	215410056	215410056	G	T	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon14:c.C2000A:p.T667N,FN1:NM_001306130:exon14:c.C2000A:p.T667N,FN1:NM_001306131:exon14:c.C2000A:p.T667N,FN1:NM_001306132:exon14:c.C2000A:p.T667N,FN1:NM_001365517:exon14:c.C2000A:p.T667N,FN1:NM_001365518:exon14:c.C2000A:p.T667N,FN1:NM_001365519:exon14:c.C2000A:p.T667N,FN1:NM_001365520:exon14:c.C2000A:p.T667N,FN1:NM_001365521:exon14:c.C2000A:p.T667N,FN1:NM_001365522:exon14:c.C2000A:p.T667N,FN1:NM_001365523:exon14:c.C2000A:p.T667N,FN1:NM_001365524:exon14:c.C2000A:p.T667N,FN1:NM_002026:exon14:c.C2000A:p.T667N,FN1:NM_212474:exon14:c.C2000A:p.T667N,FN1:NM_212476:exon14:c.C2000A:p.T667N,FN1:NM_212478:exon14:c.C2000A:p.T667N,FN1:NM_212482:exon14:c.C2000A:p.T667N	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0444987429189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.76473	D	0.996	0.90584	D	0.944	0.92359	D	0.008503	0.30805	N	0.312951	1	0.81001	D	1.75	0.45442	L	0.15	0.60734	T	-2.72	0.63323	D	0.715	0.75927	-0.5093	0.68312	T	0.300	0.67129	T	10	0.57202095	0.65372	D	0.044499	0.61517	D	0.367	0.68670	0.591	0.71999	0.752927672277	0.75068	0.6022126251577025	0.60152	0.932667358247	0.71902	0.683983564377	0.64841	T	0.446154	0.78890	T	0.0391174	0.56930	T	-0.181587	0.56377	T	0.98185259103775	0.74150	D	0.945705	0.79334	D	0.38546073	0.59708	0.32460907	0.58383	0.38546073	0.59708	0.32460907	0.58382	-8.389	0.63692	D	0.6125378222645659	0.68024	0.199	0.47965	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.393250	0.46987	22.4	0.99341818691889283	0.60210	0.96199	0.67990	D	AEFDBHCIJ	0.916441	0.88264	D	0.554837893980431	0.70379	5.49263	0.515969526272674	0.69063	5.307292	0.999999997396412	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.65	2.88	0.32617	5.843000	0.69141	4.607000	0.44021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2083:0.0:0.7917:0.0	10.478	0.43865	860	0.33753	.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1816.33	33	chr2	215410056	.	G	T	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=767;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.6;SOR=0.587	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1830,0,1845	18	0	1	0
chr2	217835109	217835109	T	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon18:c.A2887G:p.S963G,TNS1:NM_001308023:exon19:c.A2887G:p.S963G,TNS1:NM_022648:exon19:c.A2887G:p.S963G	.	425	1080	17	0	0	17	0.00780891	.	.	.	3211380	TNS1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.393	0.106410655065	.	0.000199681	0.0010	0	0	0.0001	0.0002	0.0005	0	0.0049	0.0008861	137	154602	rs201800226	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.362e-05	7.868e-05	0	0	0	0.0025	0.0003	0.0008	0.0043	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	7.215e-05	0	0.0001	0	0	0	0	0.0004	0.0014	0.0027	0.005	0.63226	D	0.089	0.55759	T	0.85	0.61523	P	0.281	0.43650	B	0.967421	0.07756	N	1.015350	0.998821	0.45510	D	2.075	0.57047	M	-3.01	0.92457	D	-1.9	0.44284	N	0.41	0.45047	0.041	0.83074	D	0.644	0.87575	D	10	0.00945285	0.00213	T	0.106411	0.78200	D	0.393	0.70844	.	.	0.778334313524	0.77629	0.3624967717252459	0.36163	0.113200891925	0.12776	0.473637521267	0.35181	T	0.095558	0.39645	T	-0.177945	0.24042	T	-0.0278417	0.68511	D	0.0310361588703694	0.02151	T	0.863614	0.58780	D	0.15090305	0.34331	0.1746471	0.39875	0.15090305	0.34331	0.1746471	0.39875	-6.372	0.49291	T	.	.	0.095	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.306134	0.45409	22.1	0.99562357059714002	0.71831	0.94422	0.61114	D	AEFBI	0.695923	0.65443	D	0.14108985190973	0.48390	3.051922	0.233805037125471	0.51731	3.353321	0.999999015720487	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.196000	0.64973	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.252000	0.23314	0.0:0.0:0.0:1.0	14.375	0.66432	947	0.11584	.;.;.;.;.;.;.	.	.	.	.	.	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	0.003033	0.000000	0.002717	0.000000	0.000000	0.000000	0.018634	0.003788	0.02632	537.33	34	chr2	217835109	.	T	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=679;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.292;SOR=0.544	GT:AD:DP:GQ:PL	0/1:26,25:51:99:551,0,630	18	0	1	0
chr2	218696531	218696531	G	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001369423:exon22:c.G2516A:p.R839Q,STK36:NM_015690:exon22:c.G2516A:p.R839Q	.	432	1067	21	2	0	25	0.0115794	.	.	.	719614	STK36-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.016	.	0.0067	0.00499201	0.0080	0.0008	0.0020	0.0003	0.0115	0.0108	0.0055	0.0082	0.0078071	1207	154602	rs13023540	0.0078	0.0078	0.0077	0.0078	0.0085	0.0076	0.0076	0.0083	0.0083	0.0009	0.0028	0.0003	5.038e-05	0.0139	0.0021	0.0085	0.0067	0.0073	0.0062	0.0062	0.0063	0.0061	0.0097	0.0059	0.0057	0.0091	0.0088	0.0012	0.0044	0.0027	0	0.0004	0.0142	0	0.0097	0.0066	0.0052	0.218	0.19090	T	0.633	0.07127	T	0.964	0.55854	D	0.289	0.40655	B	0.000840	0.41547	D	0.000000	1	0.81001	D	2.4	0.69460	M	-0.46	0.70014	T	-0.62	0.18248	N	0.157	0.16725	-0.9708	0.37030	T	0.103	0.37894	T	10	0.0047221184	0.00099	T	.	.	.	0.094	0.27141	.	.	0.758441514024	0.75625	0.2747308017526561	0.27386	0.338949971352	0.35853	0.388024359941	0.23391	T	0.118418	0.43922	T	-0.375377	0.03331	T	-0.301591	0.44557	T	0.0114167901091856	0.00170	T	0.817118	0.47377	T	0.060002606	0.12260	0.05583777	0.09868	0.060002606	0.12260	0.05583777	0.09867	-3.024	0.10442	T	.	.	0.090	0.12512	B	.;.	.;.	2.997196	0.40031	21.1	0.99902731577144455	0.97426	0.82890	0.42059	D	AEFBI	0.178238	0.30550	N	0.147581823396023	0.48699	3.078887	0.233824552593028	0.51734	3.353413	0.103093068718456	0.16436	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.43	4.55	0.55429	2.813000	0.47701	7.576000	0.60835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.1645:0.0:0.8355:0.0	9.378	0.37460	811	0.42639	.;.	AC053503.4|BCS1L|STK36|STK36	Kidney_Cortex|Nerve_Tibial|Nerve_Tibial|Pituitary	STK36	Testis	rs13023540	Likely benign	0	0	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	0.003788	0.05263	5281.83	33	chr2	218696531	.	G	A	5281.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.26;DP=1050;ExcessHet=0.119;FS=1.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.884;SOR=0.8	GT:AD:DP:GQ:PL	0/1:144,99:243:99:2496,0,3365	17	0	2	0
chr2	226796370	226796370	C	T	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G2369A:p.R790H	.	418	1103	1	0	0	1	0.000453104	.	.	.	2308000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0151257423453	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs778839568	1.369e-05	1.436e-05	1.226e-05	1.513e-05	4.637e-05	8.94e-06	7.27e-06	1.583e-05	9.3e-06	0	0	3.826e-05	0	0	0	1.349e-05	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.563	0.09022	T	0.999	0.77913	D	0.893	0.63340	P	0.000001	0.62929	D	0.000000	0.998662	0.45243	D	1.265	0.31966	L	0.33	0.58323	T	-0.82	0.22508	N	0.333	0.37405	-0.8245	0.53651	T	0.227	0.59171	T	10	0.43795776	0.57916	T	0.015126	0.35682	T	0.184	0.45763	0.419	0.46036	0.812021637403	0.81025	0.24032468463711382	0.23946	0.814713288017	0.66887	0.570031762123	0.48683	T	0.479229	0.80872	T	-0.019537	0.48920	T	-0.26584	0.48240	T	0.869446873664856	0.51938	D	0.79842	0.44325	T	0.1059952	0.25063	0.082194895	0.18740	0.1059952	0.25063	0.082194895	0.18740	-3.447	0.15697	T	.	.	0.086	0.10739	B	.	.	2.863955	0.37848	20.6	0.99923854928676237	0.98917	0.93385	0.58075	D	AEFDBCI	0.663696	0.63313	D	0.298075300736483	0.56050	3.769351	0.303034671978674	0.55717	3.734606	0.999999999997306	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.604944	0.38103	0	.	.	4.79	3.9	0.44240	4.096000	0.57463	3.324000	0.37570	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.8583:0.1417:0.0	15.167	0.72515	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1744.33	78	chr2	226796370	.	C	T	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=1157;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=2.6;SOR=0.569	GT:AD:DP:GQ:PL	0/1:49,70:119:99:1758,0,1184	18	0	1	0
chr2	226798535	226798535	G	C	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.C204G:p.S68R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.0828056793552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460898587	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.038	0.51421	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.15	0.60148	M	-1.01	0.76168	T	-2.02	0.46503	N	0.76	0.75834	0.199	0.85887	D	0.661	0.88239	D	10	0.8261662	0.81796	D	0.082806	0.73981	D	0.497	0.78163	0.277	0.23004	0.950855950807	0.95033	0.6539881204997464	0.65334	0.445220571064	0.44417	0.788699328899	0.80244	T	0.811607	0.95298	D	0.290264	0.82177	D	0.179167	0.81947	D	0.851495921611786	0.50296	D	0.977902	0.92154	D	0.5947141	0.72405	0.47901103	0.69823	0.5947141	0.72406	0.47901103	0.69823	-9.785	0.72613	D	.	.	0.954	0.87326	P	.	.	5.305772	0.89070	29.8	0.99796362974801589	0.88194	0.74770	0.36585	D	ALL	0.738307	0.68323	D	0.751998006077371	0.83036	7.912872	0.720510974675465	0.83938	8.154417	0.999999999999986	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	5.49	5.49	0.81022	4.808000	0.62274	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.335	0.94300	946	0.12043	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1847.33	35	chr2	226798535	.	G	C	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.061;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.28;SOR=0.661	GT:AD:DP:GQ:PL	0/1:84,78:162:99:1861,0,2444	18	0	1	0
chr2	232768480	232768480	A	T	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon3:c.T554A:p.F185Y,KCNJ13:NM_002242:exon3:c.T794A:p.F265Y	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2988420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.274973403937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.954	0.54400	P	0.719	0.54822	P	0.000000	0.84330	D	0.042564	1	0.81001	D	3.585	0.93597	H	-3.71	0.95387	D	-2.89	0.60665	D	0.624	0.68863	0.942	0.96279	D	0.896	0.96562	D	10	0.94090545	0.93416	D	0.274973	0.90020	D	0.858	0.95655	0.882	0.96934	0.88999436298	0.88890	0.6693653395676826	0.66874	1.51082159887	0.87234	0.680639743805	0.64361	T	0.756589	0.93372	D	0.246706	0.78291	D	0.117	0.78009	D	0.989587426185608	0.79812	D	0.834817	0.50404	T	0.67919654	0.76926	0.644773	0.79234	0.67919654	0.76927	0.644773	0.79235	-5.588	0.42683	T	0.27768476350658194	0.37245	0.39	0.61280	A	.;.	.;.	3.962911	0.58130	23.9	0.99343911415616659	0.60291	0.99296	0.94110	D	AEFDBI	.	.	.	0.722191096846923	0.81086	7.440829	0.698880156440357	0.82293	7.731376	0.999869056408493	0.44398	0.475973	0.10046	0	0.636889	0.57051	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.92	4.76	0.60189	9.290000	0.95109	4.677000	0.44304	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8688:0.1312:0.0:0.0	13.398	0.60309	900	0.24599	.;.	.	.	.	.	.	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	2371.33	37	chr2	232768480	.	A	T	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=840;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.928;SOR=0.786	GT:AD:DP:GQ:PL	0/1:116,88:204:99:2385,0,3131	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	0/1:68,54:122:99:.:.:1979,0,2517:.	6	3	10	0
chr2	233794447	233794447	T	C	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon8:c.T907C:p.Y303H	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0118389574031	.	.	0.0004	0	0	0	0	0.0012	0	0	3.88e-05	6	154602	rs757592602	7.724e-05	7.388e-05	6.633e-05	8.845e-05	0.0005	6.532e-05	6.071e-05	0.0001	7.633e-05	0	2.801e-05	0.0025	0	0	0.0005	2.688e-05	0.0002	1.262e-05	6.571e-05	6.567e-05	0.0001	1.345e-05	2.941e-05	3.517e-05	2.616e-05	4.88e-06	1.83e-06	0	0	0	0.0020	0	9.414e-05	0	2.941e-05	0	0	0.166	0.23183	T	0.0	0.92824	D	.	.	.	.	.	.	0.005206	0.32996	N	0.000000	0.925366	0.27194	N	.	.	.	2.82	0.10871	T	-2.47	0.53898	N	0.653	0.67304	-1.1009	0.03984	T	0.043	0.18618	T	8	0.05623001	0.06270	T	0.011839	0.29861	T	0.097	0.27909	.	.	0.0884992946249	0.08302	0.49130036931435644	0.49051	2.46197207718E-4	0.00014	.	.	.	0.007613	0.07006	T	-0.229851	0.16668	T	-0.319633	0.42616	T	0.0936735942959785	0.11647	T	0.772323	0.40326	T	0.07909447	0.18050	0.15544428	0.36437	0.07909447	0.18050	0.15544428	0.36436	-5.088	0.37780	T	.	.	0.329	0.55159	B	.;.	.;.	3.022806	0.40463	21.2	0.99746346453207069	0.83927	0.67803	0.33566	D	AEFDBI	0.322629	0.42507	N	0.271734676728941	0.54720	3.637042	0.339512877949414	0.57877	3.955403	0.9266842990445	0.26860	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.245000	0.42784	4.850000	0.45366	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	11.941	0.52188	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	916.33	33	chr2	233794447	.	T	C	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=696;ExcessHet=0;FS=2.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.624;SOR=1.001	GT:AD:DP:GQ:PL	0/1:34,35:69:99:930,0,864	18	0	1	0
chr2	240462223	240462223	C	T	exonic	GPC1	.	nonsynonymous SNV	GPC1:NM_002081:exon3:c.C358T:p.R120W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.162938050928	.	.	3.13e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs752501624	4.809e-06	8.209e-06	4.097e-06	5.53e-06	0.0004	2e-06	1.29e-06	6.29e-05	2.595e-05	0	0	0	0	0	0.0004	1.804e-06	1.665e-05	2.332e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.542e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.542e-05	0	0	0	0	0	0	0	0.003	0.72154	D	0.008	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.735027	0.06393	N	1.148330	0.989397	0.40944	D	2.75	0.80375	M	0.63	0.73631	T	-5.9	0.89871	D	0.576	0.59816	-0.5912	0.65173	T	0.341	0.70664	T	10	0.46243423	0.59367	T	0.162938	0.84239	D	0.249	0.55752	0.477	0.55502	0.958154008984	0.95770	0.46738886837157767	0.46657	0.61274772462	0.55863	0.497827529907	0.38525	T	0.408	0.76367	T	0.0378671	0.56765	T	-0.183383	0.56207	T	0.926035046577454	0.58809	D	0.953205	0.82322	D	0.39391917	0.60309	0.42463577	0.66297	0.39391917	0.60309	0.42463577	0.66297	-10.08	0.74389	D	.	.	0.130	0.28578	B	.;.;.;.;.	.;.;.;.;.	4.488348	0.70083	25.5	0.99872763297173517	0.94989	0.58466	0.30649	D	AEFBCI	0.662225	0.63217	D	0.208150566227671	0.51592	3.339347	-0.00513904315150558	0.39482	2.341687	0.999444463582638	0.39736	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.1	3.1	0.34780	-0.070000	0.11483	2.014000	0.30178	0.543000	0.25316	0.000000	0.06391	0.998000	0.33993	0.452000	0.27939	0.0:1.0:0.0:0.0	12.012	0.52588	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	1345.33	43	chr2	240462223	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-1.094;SOR=0.77	GT:AD:DP:GQ:PL	0/1:23,47:70:99:1359,0,595	18	0	1	0
chr2	240529254	240529254	G	A	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354024:exon4:c.C469T:p.R157W,ANKMY1:NM_016552:exon4:c.C469T:p.R157W,ANKMY1:NM_001282771:exon5:c.C736T:p.R246W,ANKMY1:NM_001354023:exon6:c.C736T:p.R246W	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0183285849306	0.0032	0.00159744	0.0019	0.0035	0.0005	0	0.0002	0.0023	0.0022	0.0022	0.0018628	288	154602	rs141683622	0.0017	0.0017	0.0016	0.0017	0.0231	0.0016	0.0016	0.0199	0.0187	0.0027	0.0015	0.0105	5.038e-05	0.0004	0.0231	0.0013	0.0031	0.0022	0.0023	0.0023	0.0023	0.0024	0.0031	0.0021	0.0021	0.0026	0.0024	0.0030	0	0.0020	0.0127	0	0.0004	0.0204	0.0018	0.0047	0.0031	0.155	0.30943	T	0.014	0.76473	D	0.997	0.70673	D	0.507	0.47859	P	0.877026	0.07211	N	1.063240	1	0.81001	D	2.33	0.66821	M	0.97	0.42502	T	-3.54	0.76822	D	0.545	0.57177	-0.9548	0.40131	T	0.157	0.48942	T	10	0.0055651963	0.00123	T	0.018329	0.40357	T	0.235	0.53788	.	.	0.744673418284	0.74237	0.6798103662453437	0.67920	0.406304590416	0.41509	0.220648571849	0.01348	T	0.18545	0.53842	T	-0.411645	0.01938	T	-0.367126	0.37225	T	0.0255231670118667	0.01342	T	0.892111	0.62800	D	0.22641642	0.45322	0.12773886	0.30744	0.22641642	0.45322	0.12773886	0.30743	-9.809	0.72760	D	.	.	0.130	0.29995	B	.;.;.;.	.;.;.;.	2.621760	0.34075	19.52	0.99834612356398045	0.91628	0.76334	0.37430	D	AEFBI	0.391756	0.47007	N	0.0172032028497385	0.42637	2.572806	-0.0876661890152635	0.35898	2.082474	0.011544007067625	0.12200	0.615465	0.37627	0	0.653731	0.59785	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.06	4.15	0.47978	1.303000	0.33075	1.460000	0.26674	0.676000	0.76740	0.790000	0.29595	0.132000	0.23010	0.205000	0.22041	0.0:0.0:0.8336:0.1664	12.705	0.56423	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	0.022659	0.015152	0.024457	0.055556	0.000000	0.034483	0.003049	0.000000	0.05263	3478.83	33	chr2	240529254	.	G	A	3478.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.454;DP=911;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.716;SOR=0.699	GT:AD:DP:GQ:PL	0/1:72,74:146:99:1789,0,1695	17	0	2	0
chr2	240591997	240591997	G	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon4:c.G535A:p.G179S,CAPN10:NM_023085:exon4:c.G535A:p.G179S	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.361217143378	0.0003	0.000199681	0.0001	0.0005	0	0	0	7.893e-05	0	0.0001	0.00011	17	154602	rs139668112	7.871e-05	7.867e-05	6.537e-05	9.219e-05	0.0003	6.67e-05	6.205e-05	0.0001	7.817e-05	8.961e-05	0.0002	0	2.519e-05	9.478e-05	0.0003	6.025e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0008	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.695	0.94570	H	-0.19	0.65931	T	-5.19	0.87911	D	0.969	0.97961	0.851	0.95045	D	0.806	0.93446	D	10	0.9155197	0.90913	D	0.361217	0.92516	D	0.844	0.95138	.	.	0.906106087035	0.90517	0.8983753291587085	0.89808	1.11030858762	0.78038	0.749133825302	0.74318	T	0.870032	0.97185	D	0.193681	0.73303	D	0.319868	0.89086	D	0.972591757774353	0.69760	D	0.983602	0.97198	D	0.8417087	0.86731	0.7930256	0.87833	0.8417087	0.86732	0.7930256	0.87834	-14.688	0.95558	D	.	.	0.443	0.66208	A	.;.;.;.	.;.;.;.	4.778688	0.77428	26.7	0.99773828673313325	0.86174	0.98238	0.80821	D	AEFBI	0.880798	0.80768	D	0.765166112599782	0.83888	8.13709	0.609970443295341	0.75664	6.350542	0.999999409486956	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	8.959000	0.92953	9.646000	0.81159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.415	0.66711	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1466.33	34	chr2	240591997	.	G	A	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.591;DP=721;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-1.84;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,54:89:99:1480,0,863	18	0	1	0
chr2	240596469	240596469	G	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon8:c.G1429A:p.A477T	.	0	1519	3	0	0	3	0.000986518	.	.	.	697466	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.234	.	0.0096	0.00938498	0.0027	0.0308	0.0010	0	0	6.036e-05	0	0.0001	0.0025355	392	154602	rs148303768	0.0009	0.0009	0.0010	0.0008	0.0305	0.0009	0.0009	0.0289	0.0283	0.0305	0.0019	0	0	0	0.0033	8.638e-05	0.0017	6.958e-05	0.0087	0.0088	0.0087	0.0087	0.0304	0.0083	0.0082	0.0290	0.0285	0.0304	0	0.0032	0	0	0	0	0.0001	0.0047	0	0.365	0.11732	T	0.026	0.55759	D	0.485	0.49185	P	0.312	0.41825	B	0.063228	0.22041	N	0.450508	1	0.08975	N	1.08	0.27187	L	-2.25	0.87272	D	-0.94	0.25118	N	0.211	0.23506	-0.7367	0.58621	T	0.162	0.49698	T	10	0.0035008192	0.00062	T	.	.	.	0.234	0.53644	.	.	0.865929765651	0.86463	0.4056280234822578	0.40478	0.419378779789	0.42491	0.332485675812	0.15310	T	0.201279	0.55911	T	-0.48952	0.00654	T	-0.453625	0.27296	T	0.00861568848828911	0.00105	T	0.752925	0.37500	T	0.03343307	0.03561	0.04511337	0.05999	0.03343307	0.03561	0.04511337	0.05999	0.464	0.00220	T	.	.	0.068	0.03736	B	.;.	.;.	0.853419	0.12254	8.799	0.91831074649655531	0.21141	0.38293	0.25956	N	AEFDBCI	0.178096	0.30535	N	-0.594438360757651	0.19112	0.9977576	-0.694170453463583	0.17105	0.9080601	0.999314912890937	0.39113	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	0.925	0.18550	2.652000	0.46347	0.106000	0.14715	0.676000	0.76740	0.283000	0.25169	0.000000	0.08366	0.203000	0.21983	0.1994:0.0:0.6341:0.1666	4.915	0.13196	994	0.00715	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.005051	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1442.33	36	chr2	240596469	.	G	A	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=746;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.58;SOR=0.591	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1456,0,1586	18	0	1	0
chr2	240682704	240682704	-	C	exonic	AQP12B	.	frameshift insertion	AQP12B:NM_001102467:exon1:c.133dupG:p.V45Gfs*26	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.373e-05	0.0001	0	0	0	4.605e-05	0	0	5.17e-05	8	154602	rs774356588	0.0002	0.0004	0.0002	0.0002	0.0056	0.0002	0.0002	0.0049	0.0047	0.0056	0.0004	0	0	0	0.0002	6.297e-05	0.0002	0.0008	0.0024	0.0029	0.0023	0.0025	0.0083	0.0022	0.0021	0.0075	0.0073	0.0083	0	0.0007	0	0	0	0	0.0001	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	604.29	105	chr2	240682704	.	A	AC	604.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=1384;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.17;MQRankSum=-9.43;QD=5.76;ReadPosRankSum=2.27;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,21:105:99:0|1:240682704_A_AC:618,0,3464:240682704	18	0	1	0
chr2	240691981	240691981	G	A	exonic	AQP12A	.	nonsynonymous SNV	AQP12A:NM_198998:exon1:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00390486697223	0.0012	.	0.0007	0.0024	0.0005	0.0004	0.0002	0.0007	0.0011	0.0002	0.0012613	195	154602	rs149487583	9.691e-05	0.0071	9.302e-05	0.0001	0.0007	8.359e-05	7.864e-05	0.0005	0.0004	0.0003	0.0007	0	0.0002	3.76e-05	0	7.111e-05	0.0001	0.0001	0.0001	0.0004	0.0002	6.943e-05	0.0003	7.3e-05	6.018e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	5.961e-05	0	0	0.166	0.27783	T	0.285	0.21343	T	0.995	0.67487	D	0.586	0.50343	P	0.140848	0.18296	N	0.556195	0.81014	0.34629	D	2.505	0.72935	M	2.8	0.11082	T	-1.4	0.43906	N	0.22	0.24634	-1.1056	0.03476	T	0.007	0.02399	T	10	0.033152044	0.01483	T	0.003905	0.09180	T	0.099	0.28413	.	.	0.208816687407	0.20498	0.3042102624337775	0.30334	0.446053434822	0.44485	0.615734934807	0.55125	T	0.174252	0.52342	T	-0.4883	0.00664	T	-0.530534	0.19234	T	0.0208558782861143	0.00786	T	0.789521	0.42989	T	0.09934852	0.23444	0.079486035	0.17899	0.09934852	0.23444	0.079486035	0.17898	-3.612	0.18031	T	.	.	0.106	0.20196	B	.;.	.;.	2.857755	0.37752	20.6	0.99896397487963451	0.96895	0.68492	0.33823	D	AEFDI	0.152951	0.27772	N	-0.0309426049442125	0.40458	2.402967	-0.144442879842436	0.33623	1.925227	0.0683590927609874	0.15455	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.43	2.43	0.28797	2.260000	0.42923	4.254000	0.42773	0.591000	0.32079	0.525000	0.27150	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	10.601	0.44555	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	0.005066	0.000000	0.008197	0.000000	0.000000	0.000000	0.009202	0.003846	0.02632	980.33	36	chr2	240691981	.	G	A	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.124;DP=1201;ExcessHet=0;FS=6.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-10.46;QD=6.01;ReadPosRankSum=3.59;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,33:163:99:0|1:240691973_G_A:994,0,5278:240691973	18	0	1	0
chr3	10378407	10378407	T	C	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001330611:exon7:c.A911G:p.K304R,ATP2B2:NM_001363862:exon7:c.A911G:p.K304R,ATP2B2:NM_001683:exon7:c.A911G:p.K304R,ATP2B2:NM_001353564:exon8:c.A911G:p.K304R,ATP2B2:NM_001001331:exon10:c.A1046G:p.K349R	.	413	1107	2	0	0	2	0.000902527	.	.	.	2411988	Hearing_loss,_autosomal_dominant_82	MONDO:MONDO:0030719,MedGen:C5676948,OMIM:619804	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.0603930592264	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001876	29	154602	rs536636171	7.456e-05	7.388e-05	4.261e-05	0.0001	0.0011	6.305e-05	5.86e-05	0.0009	0.0009	0	2.236e-05	0	0	0	0	2.698e-06	0.0001	0.0011	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.097	0.37966	T	0.118	0.36233	T	0.011	0.15914	B	0.033	0.22329	B	0.733083	0.09838	N	0.859113	1	0.81001	D	0.27	0.09956	N	-3.05	0.92407	D	-2.0	0.46146	N	0.448	0.65416	0.067	0.83568	D	0.703	0.89786	D	10	0.068045884	0.09569	T	0.060393	0.67986	D	0.541	0.80842	0.363	0.36874	0.887583475496	0.88648	0.503648621810019	0.50286	1.75140480427	0.90995	0.703874111176	0.67705	T	0.221479	0.58506	T	-0.104237	0.35724	T	0.0369606	0.72730	D	0.154625624462789	0.17465	T	0.927307	0.79398	D	0.15123205	0.34390	0.16587059	0.38350	0.15123205	0.34390	0.16587059	0.38349	-6.673	0.51607	T	0.1920123407708581	0.25215	0.105	0.21728	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.980812	0.82498	27.8	0.99694615030163958	0.80180	0.97578	0.75670	D	AEFDGBI	0.937208	0.93466	D	0.0828563909437188	0.45665	2.819161	0.233720635644782	0.51728	3.352875	0.999999999012111	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.75	4.75	0.59954	8.012000	0.88211	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.435	0.66852	779	0.47767	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	781.33	40	chr3	10378407	.	T	C	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=760;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.24;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,22:58:99:0|1:10378403_T_C:795,0,1425:10378403	18	0	1	0
chr3	12901342	12901342	G	A	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon14:c.C2986T:p.H996Y,IQSEC1:NM_001376938:exon16:c.C3310T:p.H1104Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243279198	8.037e-06	8.911e-06	8.665e-06	7.394e-06	0.0001	4.31e-06	3.15e-06	3.826e-05	2.268e-05	0	0.0001	0	0	0	0	6.607e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.481	0.51583	-1.0479	0.14988	T	0.021	0.08778	T	7	0.014332116	0.00302	T	.	.	.	.	.	.	.	0.168254554758	0.16434	0.21509398744792244	0.21425	.	.	0.792461872101	0.80818	T	0.01139	0.10166	T	-0.456558	0.01032	T	-0.424446	0.30566	T	0.0632088216221369	0.07664	T	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.747667	0.22237	15.54	0.63978740292772485	0.07368	0.91300	0.53256	D	AEFDBI	0.298010	0.40744	N	-0.330844099851717	0.27982	1.539677	-0.417262820666875	0.24490	1.341366	0.999999700848011	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.07	3.07	0.34476	4.831000	0.62441	3.891000	0.40294	0.571000	0.28931	1.000000	0.71638	0.999000	0.35428	0.004000	0.06068	0.0:0.0:1.0:0.0	11.848	0.51669	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	1262.33	37	chr3	12901342	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=811;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.021;SOR=0.813	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1276,0,1315	18	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.07895	4932.79	34	chr3	13571581	.	C	T	4932.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.21;DP=1003;ExcessHet=0.3672;FS=3.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.752;SOR=0.544	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1830,0,1193	16	0	3	0
chr3	26710325	26710325	T	G	exonic	LRRC3B	.	nonsynonymous SNV	LRRC3B:NM_001317808:exon2:c.T653G:p.I218S,LRRC3B:NM_001317809:exon2:c.T653G:p.I218S,LRRC3B:NM_052953:exon2:c.T653G:p.I218S,LRRC3B:NM_001317810:exon3:c.T653G:p.I218S,LRRC3B:NM_001317811:exon3:c.T653G:p.I218S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.116972802174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	-0.14	0.65006	T	-3.79	0.71639	D	0.861	0.85979	-0.1312	0.79373	T	0.421	0.76616	T	10	0.8551552	0.84708	D	0.116973	0.79662	D	0.565	0.82232	0.368	0.37687	0.960425676539	0.96000	0.9467039483456209	0.94653	2.5862836791	0.98110	0.901504278183	0.96606	D	0.243207	0.61209	T	0.326984	0.84956	D	0.231913	0.84760	D	0.992439270019531	0.82912	D	0.966503	0.87759	D	0.6736995	0.76631	0.696108	0.82106	0.6736995	0.76632	0.696108	0.82107	-12.282	0.86197	D	.	.	0.957	0.88195	P	.;.;.	.;.;.	5.154094	0.86338	28.9	0.99443006984839288	0.64870	0.98679	0.85488	D	AEFI	0.917618	0.88548	D	0.830725171691951	0.87985	9.411412	0.827486900633442	0.91635	10.98824	0.999974062396851	0.50053	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	8.017000	0.88732	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	15.770	0.77928	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	.	.	.	.	.	.	.	.	0.02632	1900.33	34	chr3	26710325	.	T	G	1900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.196;SOR=0.695	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1914,0,1456	18	0	1	0
chr3	27395109	27395109	G	A	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon18:c.C2326T:p.H776Y,SLC4A7:NM_001258380:exon18:c.C2311T:p.H771Y,SLC4A7:NM_001321107:exon18:c.C2326T:p.H776Y,SLC4A7:NM_001321108:exon18:c.C2338T:p.H780Y,SLC4A7:NM_001321103:exon19:c.C2710T:p.H904Y,SLC4A7:NM_001321104:exon19:c.C2671T:p.H891Y,SLC4A7:NM_001321105:exon19:c.C2671T:p.H891Y,SLC4A7:NM_001321106:exon19:c.C2659T:p.H887Y,SLC4A7:NM_003615:exon19:c.C2683T:p.H895Y	.	443	1065	14	0	0	14	0.00652985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0227623404329	0.0002	0.00179712	0.0013	0	8.953e-05	0	0	0.0007	0.0012	0.0078	0.0011449	177	154602	rs146857770	0.0007	0.0007	0.0004	0.0009	0.0066	0.0006	0.0006	0.0062	0.0060	9.733e-05	0.0007	0.0053	0	0	0.0040	0.0002	0.0011	0.0066	0.0005	0.0005	0.0004	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	7.216e-05	0	0.0004	0.0043	0	0	0	0.0003	0.0005	0.0060	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.026799	0.25861	N	0.448038	1	0.08975	N	-0.46	0.02758	N	-1.19	0.78427	T	-1.27	0.31981	N	0.058	0.09772	-0.9670	0.37814	T	0.119	0.41691	T	10	0.0047834218	0.00101	T	0.022762	0.45677	T	0.135	0.36572	.	.	0.043077524339	0.03247	0.5067648554276866	0.50598	0.334685067799	0.35479	0.322349965572	0.13777	T	0.138823	0.53302	T	-0.514765	0.00472	T	-0.509867	0.21330	T	0.00497517793744369	0.00054	T	0.837416	0.51077	T	0.031601924	0.03028	0.0328628	0.02089	0.031601924	0.03028	0.0328628	0.02089	-3.801	0.22723	T	.	.	0.104	0.25978	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.000205	0.13788	10.33	0.25054941583939572	0.01137	0.12567	0.17347	N	AEFGBI	0.090132	0.18265	N	-1.15779027031845	0.05653	0.2582603	-1.00131861558796	0.09756	0.4872611	0.169012847517651	0.17707	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.06	-0.612	0.11016	0.098000	0.15027	0.051000	0.14001	-0.227000	0.07798	0.001000	0.13787	0.731000	0.26417	0.851000	0.40252	0.1907:0.1851:0.4657:0.1585	3.137	0.06055	473	0.77910	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.;.;.;.;Bicarbonate transporter, C-terminal;Bicarbonate transporter, 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	0.002523	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	954.33	36	chr3	27395109	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.089;SOR=0.794	GT:AD:DP:GQ:PL	0/1:27,33:60:99:968,0,704	18	0	1	0
chr3	39129169	39129169	G	A	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.G1871A:p.S624N,TTC21A:NM_001366899:exon15:c.G2018A:p.S673N,TTC21A:NM_001366900:exon15:c.G1994A:p.S665N,TTC21A:NM_145755:exon15:c.G2015A:p.S672N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0303677983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.261	0.22962	T	0.988	0.62325	D	0.676	0.53321	P	0.000011	0.62929	D	0.067325	0.764501	0.34077	D	2.135	0.59519	M	0.11	0.76168	T	-1.74	0.41239	N	0.295	0.37301	-0.1160	0.79728	T	0.507	0.81454	D	10	0.28910917	0.46492	T	0.030368	0.52693	D	0.210	0.50028	0.498	0.58835	0.831874080974	0.83027	0.29099165301796487	0.29012	0.498617798066	0.48330	0.412031978369	0.26738	T	0.006133	0.05569	T	-0.108404	0.35033	T	-0.393492	0.34142	T	0.889597952365875	0.54032	D	0.679032	0.28770	T	0.3235373	0.54937	0.24187201	0.49594	0.3235373	0.54937	0.24187201	0.49593	-7.189	0.55438	T	.	.	0.176	0.42462	B	.;.	.;.	2.906323	0.38538	20.8	0.99669297964766934	0.78458	0.85034	0.44135	D	AEFBI	0.394165	0.47153	N	0.356267059269863	0.59072	4.083666	0.432954759655508	0.63630	4.600609	0.999998603016257	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	2.647000	0.46304	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.935	0.92555	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1952.33	35	chr3	39129169	.	G	A	1952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.194;DP=793;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.053;SOR=0.425	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1966,0,2260	18	0	1	0
chr3	39184680	39184680	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C815T:p.T272I,XIRP1:NM_194293:exon2:c.C4766T:p.T1589I	.	426	1093	3	0	0	3	0.00137049	.	.	.	720428	not_provided|XIRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.055	.	.	0.0105831	0.0056	0	0	0	0	2.997e-05	0.0022	0.0409	0.0049353	763	154602	rs367987838	0.0024	0.0024	0.0014	0.0034	0.0384	0.0023	0.0023	0.0373	0.0369	0.0002	0	0	7.557e-05	0	0.0009	2.428e-05	0.0029	0.0384	0.0014	0.0014	0.0006	0.0022	0.0428	0.0012	0.0012	0.0381	0.0362	4.811e-05	0	0	0	0	0	0	1.47e-05	0.0014	0.0428	0.007	0.59928	D	0.144	0.67890	T	0.002	0.09854	B	0.002	0.06944	B	0.162266	0.17626	U	0.562398	1	0.08975	N	1.95	0.52479	M	3.91	0.18083	T	-1.51	0.43906	N	0.037	0.01135	-1.0274	0.21299	T	0.033	0.14029	T	10	0.0019234419	0.00026	T	.	.	.	0.055	0.15663	0.328	0.31196	0.225215365344	0.22153	0.1671135550963803	0.16631	0.0729607557204	0.08176	0.301204442978	0.10581	T	0.132215	0.46217	T	-0.677721	0.00049	T	-0.716289	0.04977	T	0.0171126064956207	0.00457	T	0.40306	0.10319	T	0.069862105	0.15340	0.10463911	0.25137	0.07094698	0.15667	0.10463911	0.25136	-5.634	0.44478	T	.	.	0.140	0.35622	B	.;.	.;.	0.498979	0.08683	5.453	0.98687423878303482	0.44709	0.12249	0.17152	N	AEFBHCI	0.086322	0.17502	N	-0.764193074309983	0.14251	0.7083419	-0.786873862669531	0.14817	0.7761893	0.999953401891131	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.37	0.452	0.15846	-0.055000	0.11763	-2.340000	0.03878	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4888:0.0:0.5112:0.0	7.643	0.27470	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.018939	0.02632	2615.33	40	chr3	39184680	.	G	A	2615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=992;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.39;SOR=0.569	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2629,0,2913	18	0	1	0
chr3	40487424	40487424	G	A	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145083:exon4:c.G782A:p.R261Q,ZNF619:NM_001145093:exon5:c.G914A:p.R305Q,ZNF619:NM_001145082:exon6:c.G1034A:p.R345Q,ZNF619:NM_001145094:exon6:c.G887A:p.R296Q,ZNF619:NM_001363277:exon6:c.G740A:p.R247Q,ZNF619:NM_173656:exon6:c.G866A:p.R289Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00176550416599	7.7e-05	.	3.3e-05	9.76e-05	0	0.0001	0	2.999e-05	0	0	3.23e-05	5	154602	rs374238547	2.052e-05	2.052e-05	1.225e-05	2.888e-05	2.518e-05	1.456e-05	1.264e-05	1.746e-05	1.503e-05	0	0	0	0	0	0	2.518e-05	0	2.319e-05	3.945e-05	3.941e-05	0	8.076e-05	0.0001	1.716e-05	1.13e-05	4.742e-05	3.055e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.969	0.03013	T	0.871	0.05805	T	0.021	0.27154	B	0.006	0.14941	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	1.75	0.26152	T	0.46	0.08340	N	0.121	0.13769	-0.9745	0.36235	T	0.024	0.10194	T	9	0.018016338	0.00389	T	0.001766	0.02986	T	0.002	0.00045	.	.	0.190952846119	0.18690	0.03037046038193193	0.02986	0.0350039370526	0.03692	0.317263543606	0.13005	T	0.008638	0.07968	T	-0.420957	0.01686	T	-0.660924	0.08203	T	0.0264873881253019	0.01472	T	0.125887	0.00981	T	0.026391272	0.01691	0.042071402	0.04928	0.026391272	0.01691	0.042071402	0.04928	-2.218	0.08749	T	.	.	0.390	0.58999	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.066119	0.03848	0.829	0.48441712889468042	0.04043	0.00392	0.01969	N	AEFBHCI	0.035099	0.04461	N	-1.6611013653212	0.00989	0.0428761	-1.69176578777332	0.01174	0.05283431	0.15918508897193	0.17566	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.69	-1.02	0.09618	-3.161000	0.00637	-12.996000	0.00486	-0.302000	0.06182	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.1222:0.0:0.4528:0.425	5.131	0.14241	628	0.65206	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	.	.	.	.	.	.	.	.	0.02632	1361.33	33	chr3	40487424	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=717;ExcessHet=0;FS=4.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=2.64;SOR=0.346	GT:AD:DP:GQ:PL	0/1:32,51:83:99:1375,0,793	18	0	1	0
chr3	41681599	41681599	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon28:c.G1981A:p.V661M,ULK4:NM_001322500:exon29:c.G2887A:p.V963M,ULK4:NM_017886:exon29:c.G2887A:p.V963M	.	437	1083	2	0	0	2	0.000922509	.	.	.	225810	ULK4-related_disorder|Intellectual_disability,_moderate	.|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.0399049784214	0.0037	0.00219649	0.0032	0.0009	0.0020	0.0001	0.0051	0.0043	0.0011	0.0015	0.0032859	508	154602	rs188590896	0.0042	0.0042	0.0042	0.0042	0.0048	0.0041	0.0041	0.0047	0.0046	0.0006	0.0021	0.0021	5.039e-05	0.0053	0.0005	0.0048	0.0042	0.0015	0.0037	0.0037	0.0040	0.0033	0.0055	0.0034	0.0033	0.0050	0.0048	0.0012	0.0263	0.0030	0.0020	0.0002	0.0051	0	0.0055	0.0033	0.0006	0.02	0.49613	D	0.012	0.63918	D	0.934	0.52202	P	0.289	0.40655	B	0.003024	0.35542	U	0.118518	0.501971	0.31718	N	1.39	0.34934	L	-0.12	0.64630	T	-0.41	0.14000	N	0.438	0.47672	-0.9206	0.45472	T	0.115	0.40740	T	10	0.006424904	0.00146	T	0.039905	0.59076	D	0.131	0.35738	.	.	0.473222633396	0.46952	0.39931275101669483	0.39846	0.0851734426046	0.09628	0.403169602156	0.25510	T	0.001977	0.01384	T	-0.446794	0.01179	T	-0.41028	0.32193	T	0.0187744089330003	0.00589	T	0.728327	0.34315	T	0.042193618	0.06354	0.05921393	0.11075	0.042193618	0.06354	0.05921393	0.11075	-6.075	0.46902	T	.	.	0.175	0.38245	B	.	.	2.266805	0.28969	17.97	0.99593718519354701	0.73748	0.77957	0.38393	D	ALL	0.171792	0.29878	N	-0.0191656622714363	0.40989	2.443784	0.0127442424918409	0.40305	2.40331	0.999999999999997	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.735289	0.94003	0	0.655142	0.61905	0	.	.	5.75	3.97	0.45241	2.502000	0.45058	1.341000	0.25737	-0.172000	0.11096	0.979000	0.35152	0.752000	0.26558	0.346000	0.25568	0.1309:0.6886:0.1136:0.0669	7.599	0.27235	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1222.33	36	chr3	41681599	.	C	T	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=737;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.732;SOR=0.584	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1236,0,1575	18	0	1	0
chr3	41789798	41789798	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon20:c.G1150A:p.V384I,ULK4:NM_001322500:exon21:c.G2056A:p.V686I,ULK4:NM_017886:exon21:c.G2056A:p.V686I	.	436	1084	2	0	0	2	0.000921659	.	.	.	225812	not_provided|Intellectual_disability,_moderate|ULK4-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0112668917059	0.0040	0.00259585	0.0035	0.0009	0.0027	0	0.0054	0.0047	0.0022	0.0014	0.0034411	532	154602	rs77615850	0.0044	0.0044	0.0044	0.0043	0.0050	0.0043	0.0042	0.0049	0.0048	0.0006	0.0026	0.0021	0	0.0054	0.0005	0.0050	0.0043	0.0013	0.0039	0.0039	0.0042	0.0035	0.0055	0.0036	0.0035	0.0050	0.0048	0.0013	0.0263	0.0042	0.0020	0.0002	0.0051	0	0.0055	0.0043	0.0006	0.227	0.18498	T	0.173	0.30143	T	0.997	0.70673	D	0.788	0.57636	P	0.000001	0.62929	U	0.000000	0.854069	0.35272	D	2.3	0.65703	M	0.23	0.59717	T	-0.39	0.13611	N	0.224	0.25130	-0.7772	0.56459	T	0.191	0.54286	T	10	0.0080269575	0.00182	T	0.011267	0.28723	T	0.133	0.36157	.	.	0.438170831126	0.43439	0.5470940459472768	0.54635	0.0468457703428	0.05097	0.419090300798	0.27712	T	6.97E-4	0.00312	T	-0.406153	0.02109	T	-0.351762	0.39003	T	0.00809893818084221	0.00096	T	0.865513	0.56452	D	0.10971512	0.25937	0.08749443	0.20340	0.10971512	0.25937	0.08749443	0.20339	-8.17	0.62223	D	.	.	0.120	0.24633	B	.	.	3.671336	0.52203	23.2	0.99821895945213046	0.90502	0.97464	0.74918	D	AEFDGBI	0.427633	0.49150	N	0.413363984766932	0.62155	4.427039	0.419766790136978	0.62799	4.501385	0.999735327477693	0.42341	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.04	0.67293	4.640000	0.61065	5.866000	0.50483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.9313:0.0:0.0687	14.819	0.69684	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	795.33	34	chr3	41789798	.	C	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.05;DP=731;ExcessHet=0;FS=0.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.672;SOR=0.538	GT:AD:DP:GQ:PL	0/1:42,36:78:99:809,0,1057	18	0	1	0
chr3	47003251	47003251	C	G	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon34:c.C5560G:p.P1854A,NBEAL2:NM_015175:exon35:c.C5662G:p.P1888A	Gray platelet syndrome, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	889194	not_specified|not_provided|Gray_platelet_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	.	0.000599042	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0102	0.0012872	199	154602	rs200641534	0.0008	0.0008	0.0005	0.0011	0.0099	0.0007	0.0007	0.0093	0.0091	2.987e-05	0.0004	0.0007	0.0001	0	0.0038	0.0002	0.0009	0.0099	0.0005	0.0005	0.0003	0.0008	0.0110	0.0004	0.0004	0.0086	0.0078	4.814e-05	0	0.0005	0.0006	0.0002	0	0.0034	0.0002	0.0009	0.0110	0.274	0.15823	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012993	0.28987	N	0.316013	1	0.08975	N	1.78	0.46185	L	0.49	0.55775	T	-1.51	0.36787	N	0.255	0.28849	-1.0230	0.22736	T	0.093	0.35498	T	10	0.005277723	0.00115	T	.	.	.	0.064	0.18567	.	.	0.228066490088	0.22430	0.3114813273173009	0.31061	0.184002297361	0.20694	0.375576615334	0.21628	T	0.026963	0.19847	T	-0.519116	0.00445	T	-0.511911	0.21119	T	0.0108572421454539	0.00155	T	0.729627	0.34527	T	0.029273508	0.02396	0.03950321	0.04059	0.029273508	0.02395	0.03950321	0.04059	-3.967	0.23308	T	.	.	0.062	0.01367	B	.	.	1.519748	0.19514	14.30	0.91058482078549119	0.20310	0.28716	0.23630	N	AEFDGBCI	0.063515	0.12278	N	-0.394554004495757	0.25662	1.39473	-0.488080824988276	0.22480	1.221263	0.999990728773109	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	2.26	0.27418	0.543000	0.22945	0.233000	0.16214	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.827000	0.38976	0.1974:0.6117:0.1908:0.0	7.037	0.24177	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	0	0	1	0	0.003021	0.005051	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1582.33	43	chr3	47003251	.	C	G	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.917;DP=807;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-1.925;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,43:97:99:0|1:47003250_A_C:1596,0,2112:47003250	18	0	1	0
chr3	47909122	47909122	G	C	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.C5230G:p.P1744A,MAP4:NM_001385682:exon9:c.C5299G:p.P1767A,MAP4:NM_001385687:exon10:c.C5350G:p.P1784A,MAP4:NM_001385688:exon10:c.C5350G:p.P1784A,MAP4:NM_001385689:exon10:c.C5350G:p.P1784A	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0002	0.000798722	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0106	0.0013325	206	154602	rs201731116	0.0008	0.0008	0.0005	0.0012	0.0109	0.0008	0.0008	0.0103	0.0101	2.987e-05	0.0004	0.0005	0.0001	0	0.0029	0.0002	0.0008	0.0109	0.0005	0.0005	0.0003	0.0007	0.0100	0.0004	0.0004	0.0077	0.0069	4.813e-05	0	0.0005	0.0003	0.0002	0	0.0034	0.0002	0.0005	0.0100	0.0	0.91255	D	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.98	0.93175	N	0.412	0.45237	-0.8460	0.52243	T	0.192	0.54506	T	8	0.006774664	0.00154	T	.	.	.	0.130	0.35528	.	.	0.371018649785	0.36716	.	.	.	.	.	.	.	0.027624	0.24420	T	-0.407992	0.02050	T	-0.35101	0.39089	T	0.112883777588479	0.13720	T	0.782022	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.73583	A	.;.	.;.	3.626613	0.51346	23.1	0.9907388720401511	0.51786	0.97353	0.74214	D	AEFBI	0.553810	0.56491	D	0.438028884008352	0.63528	4.588166	0.535437762175494	0.70392	5.49834	0.99999995983723	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.73	5.73	0.89730	6.019000	0.70471	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.994	0.86234	8	0.99202	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2452.33	34	chr3	47909122	.	G	C	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=846;ExcessHet=0;FS=1.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.583;SOR=0.729	GT:AD:DP:GQ:PL	0/1:107,96:203:99:2466,0,2720	18	0	1	0
chr3	50331570	50331570	C	T	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_001206957:exon3:c.G296A:p.R99H,RASSF1:NM_170713:exon3:c.G539A:p.R180H,RASSF1:NM_007182:exon4:c.G749A:p.R250H,RASSF1:NM_170712:exon4:c.G296A:p.R99H,RASSF1:NM_170714:exon4:c.G761A:p.R254H	Lung cancer, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0628764804876	.	.	8.589e-05	0	0.0006	0	0	3.074e-05	0.0011	0	6.47e-05	10	154602	rs746197371	3.826e-05	3.831e-05	3.986e-05	3.662e-05	0.0008	3.01e-05	2.7e-05	0.0006	0.0005	0	0.0002	0	0.0008	0	0	1.372e-05	0	2.345e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.233e-05	0	0	0	0.0002	0	0	0	0	0	0.067	0.65419	T	0.015	0.63109	D	0.996	0.68779	D	0.912	0.64797	D	0.000001	0.84330	D	0.056105	0.999751	0.49910	D	2.325	0.66631	M	1.55	0.29866	T	-3.72	0.72710	D	0.419	0.59986	-0.9760	0.35904	T	0.132	0.44347	T	10	0.31790304	0.49195	T	0.062876	0.68790	D	0.166	0.42578	.	.	0.588592515688	0.58534	0.44213106978656247	0.44130	1.20683058914	0.80723	0.568078935146	0.48406	T	0.236642	0.60416	T	-0.255433	0.13440	T	-0.349642	0.39245	T	0.880419015884399	0.53043	D	0.933007	0.76420	D	0.19115485	0.40731	0.14852577	0.35105	0.19115485	0.40731	0.14852577	0.35105	-6.992	0.56451	T	.	.	0.097	0.16756	B	.;.;.;.;.	.;.;.;.;.	4.978394	0.82446	27.8	0.99927790204135225	0.99163	0.86872	0.46250	D	AEFGBCI	0.448121	0.50348	N	0.413532397240506	0.62167	4.428109	0.39351756709428	0.61164	4.312817	0.999999812926954	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.37	5.37	0.76949	3.830000	0.55469	5.866000	0.50483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.8341:0.0:0.1659	8.361	0.31518	2	0.99499	.;.;.;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) 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	2218.33	33	chr3	50331570	.	C	T	2218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.56;DP=804;ExcessHet=0;FS=2.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.339;SOR=0.89	GT:AD:DP:GQ:PL	0/1:89,80:169:99:2232,0,2120	18	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K,TASOR:NM_001365635:exon18:c.C2923A:p.Q975K	.	431	1038	48	5	0	58	0.027179	.	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	Likely benign	0	0	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	0.018630	0.010101	0.017663	0.026316	0.000000	0.008621	0.021341	0.026515	0.02632	883.33	38	chr3	56633868	.	G	T	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.765;DP=769;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.063;SOR=0.499	GT:AD:DP:GQ:PL	0/1:46,34:80:99:897,0,1356	18	0	1	0
chr3	58869478	58869478	C	T	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon8:c.G700A:p.V234I,CFAP20DC:NM_001351531:exon8:c.G250A:p.V84I,CFAP20DC:NM_198463:exon9:c.G490A:p.V164I	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00863542090811	0.0002	0.000199681	0.0003	9.628e-05	0.0002	0	0	0.0004	0.0044	0.0002	0.0002781	43	154602	rs149329107	0.0003	0.0003	0.0003	0.0003	0.0110	0.0002	0.0002	0.0088	0.0080	0.0001	0.0003	0	0	0	0.0110	0.0002	0.0006	0.0002	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.221e-05	0	0.0003	0.0003	0	0	0.0102	0.0004	0.0014	0.0004	0.672	0.08787	T	0.375	0.19539	T	0.003	0.11197	B	0.001	0.04355	B	0.629657	0.05804	N	1.201380	1	0.08975	N	0.47	0.13106	N	0.76	0.49919	T	-0.13	0.09297	N	0.038	0.04307	-1.0168	0.24755	T	0.069	0.28247	T	10	0.018782318	0.00412	T	0.008635	0.22804	T	0.069	0.20116	.	.	0.0762999501168	0.06990	0.11912289086623194	0.11839	0.0979166354652	0.11043	.	.	.	.	.	.	-0.615112	0.00118	T	-0.789278	0.02184	T	0.00402846669868367	0.00043	T	0.537746	0.24942	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.067	0.03588	B	.;.;.	.;.;.	-2.345278	0.00046	0.001	0.75770501299726511	0.11204	0.00696	0.02965	N	AEFI	0.030913	0.03200	N	-1.73464609999455	0.00726	0.03134585	-1.76801588366996	0.00867	0.03875903	0.0108164564529036	0.12086	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.13	-4.98	0.02794	-3.749000	0.00422	-9.876000	0.00766	-1.950000	0.00484	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.1512:0.0:0.8488	14.665	0.68511	460	0.78750	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.005435	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	1586.33	36	chr3	58869478	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=719;ExcessHet=0;FS=1.835;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.84;SOR=0.509	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1600,0,780	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|1:55,64:119:99:0|1:75730450_C_T:2428,0,2096:75730450	0	0	19	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	0/1:116,29:145:99:.:.:404,0,4545:.	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	0/1:100,47:147:99:.:.:1491,0,3077:.	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|1:111,43:154:99:0|1:75736920_C_A:1471,0,4528:75736920	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|1:108,44:152:99:0|1:75736920_C_A:1522,0,4402:75736920	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	0/1:114,55:169:99:1198,0,3454	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	0/1:119,61:180:99:1441,0,3885	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	0/1:133,79:212:99:.:.:1542,0,3927:.	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|1:135,83:218:99:0|1:75737092_C_T:3079,0,5419:75737092	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|1:137,84:221:99:0|1:75737092_C_T:3115,0,5500:75737092	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|1:139,80:219:99:0|1:75737092_C_T:2941,0,5596:75737092	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|1:127,66:193:99:0|1:75737092_C_T:2389,0,5134:75737092	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|1:114,44:158:99:0|1:75737092_C_T:1504,0,4615:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,9:119:31:.:.:31,0,4470:.	7	0	12	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	0/1:107,108:215:99:.:.:3996,0,4006:.	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|1:117,122:239:99:0|1:75737590_A_G:4701,0,4491:75737590	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|1:117,124:241:99:0|1:75737590_A_G:4855,0,4540:75737590	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|1:117,121:238:99:0|1:75737590_A_G:4729,0,4549:75737590	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|1:109,119:228:99:0|1:75737590_A_G:4669,0,4219:75737590	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|1:110,109:219:99:0|1:75737590_A_G:4246,0,4291:75737590	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|1:185,88:273:99:0|1:75737814_C_T:3027,0,7078:75737814	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|1:213,44:257:99:0|1:75737881_T_C:1028,0,8638:75737881	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|1:220,35:255:99:0|1:75737881_T_C:769,0,9061:75737881	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|1:220,31:251:99:0|1:75737881_T_C:639,0,9092:75737881	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|1:217,29:246:99:0|1:75737994_T_C:533,0,8981:75737994	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|1:216,21:237:99:0|1:75737994_T_C:232,0,9007:75737994	8	0	10	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	0/1:100,23:123:99:317,0,3045	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	0/1:56,37:93:99:753,0,1664	1	0	18	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	0/1:83,51:134:99:1885,0,3281	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	0/1:74,23:105:17:17,0,1272	4	0	13	2
chr3	126654869	126654869	G	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs773329142	1.011e-05	1.642e-05	4.931e-06	1.556e-05	0.0003	5.39e-06	4.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0003	1.979e-05	1.97e-05	0	4.05e-05	0.0006	5.26e-06	2.46e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300242	0.82987	D	0.194	0.82768	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.625622	0.95503	35	0.96933405206962642	0.31668	0.04905	0.10654	N	ALL	0.033397	0.03951	N	-0.179455719101579	0.33990	1.934852	-0.577118542322713	0.20091	1.080856	0.99999999999964	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.07	-0.228	0.12452	0.018000	0.13315	2.087000	0.30527	0.576000	0.29215	0.006000	0.17386	0.322000	0.24328	0.020000	0.11549	0.2697:0.1909:0.5394:0.0	4.101	0.09486	862	0.33134	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	500.33	35	chr3	126654869	.	G	T	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.769;DP=663;ExcessHet=0;FS=3.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.245;SOR=0.62	GT:AD:DP:GQ:PL	0/1:27,24:51:99:514,0,639	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	0/1:40,17:57:99:.:.:123,0,825:.	3	0	16	0
chr3	129002130	129002130	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon1:c.G502A:p.E168K,EFCC1:NM_001377501:exon1:c.G502A:p.E168K,EFCC1:NM_024768:exon1:c.G502A:p.E168K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.803151243564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs559054712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.972e-05	1.97e-05	2.571e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.544e-05	0	0	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	0.974	0.57829	D	0.466	0.46637	P	0.000003	0.62929	U	0.000000	0.999703	0.81001	D	2.545	0.74286	M	.	.	.	.	.	.	0.294	0.33250	-0.5605	0.66385	T	0.269	0.64077	T	10	0.30940896	0.48428	T	0.803151	0.98461	D	.	.	0.479	0.55823	0.0297737177859	0.01360	0.3751174565956962	0.37425	.	.	0.976567625999	0.99994	D	0.150765	0.49039	T	-0.0630093	0.42436	T	-0.328285	0.41660	T	0.885902009573266	0.53627	D	0.868313	0.57032	D	0.8137327	0.84801	0.802036	0.88397	0.8137327	0.84802	0.802036	0.88398	-7.014	0.54136	T	.	.	0.779	0.76326	P	.	.	4.813577	0.78331	26.9	0.99872848643559542	0.94989	0.93548	0.58517	D	AEFDBHCI	0.634941	0.61463	D	0.272299460373005	0.54750	3.639798	0.228072714220721	0.51411	3.323853	0.999967594977985	0.48965	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.74	2.82	0.32061	4.016000	0.56871	8.913000	0.78384	0.503000	0.22915	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1975:0.8025:0.0	10.651	0.44842	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	798.33	34	chr3	129002130	.	G	A	798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=728;ExcessHet=0;FS=6.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.804;SOR=1.379	GT:AD:DP:GQ:PL	0/1:39,31:70:99:812,0,959	18	0	1	0
chr3	129476757	129476757	G	A	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon8:c.G770A:p.S257N,IFT122:NM_001280546:exon9:c.G476A:p.S159N,IFT122:NM_018262:exon10:c.G926A:p.S309N,IFT122:NM_001280541:exon11:c.G1079A:p.S360N,IFT122:NM_052989:exon11:c.G1103A:p.S368N,IFT122:NM_001280545:exon12:c.G653A:p.S218N,IFT122:NM_052985:exon12:c.G1256A:p.S419N	Cranioectodermal dysplasia 1, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	191289	Connective_tissue_disorder|not_specified|not_provided|Cranioectodermal_dysplasia_1|Rod-cone_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0012	0.00559105	0.0032	0.0003	0.0003	0.0139	0.0003	0.0016	0	0.0092	0.0030207	467	154602	rs150550701	0.0022	0.0022	0.0019	0.0024	0.0087	0.0021	0.0021	0.0082	0.0080	0.0003	0.0006	0.0001	0.0084	0.0003	0.0012	0.0017	0.0020	0.0087	0.0016	0.0016	0.0013	0.0019	0.0141	0.0015	0.0014	0.0115	0.0105	0.0002	0	0.0003	0	0.0141	0.0002	0	0.0017	0.0014	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.001	0.12996	B	0.003	0.10090	B	0.000000	0.84330	D	0.044612	0.999942	0.51968	D	-0.63	0.02141	N	0.44	0.59449	T	2.39	0.00694	N	0.251	0.39153	-1.0102	0.26854	T	0.048	0.20474	T	10	0.0068077445	0.00155	T	.	.	.	0.104	0.29647	.	.	0.627901115463	0.62486	0.21813654603121127	0.21729	0.197538282878	0.22128	0.774731636047	0.78133	T	0.109141	0.42277	T	-0.554756	0.00273	T	-0.557969	0.16568	T	0.0168030649433126	0.00435	T	0.746025	0.45053	T	0.18376361	0.39659	0.12710655	0.30603	0.18210562	0.39413	0.15228488	0.35834	-4.035	0.35088	T	0.0331516724954932	0.00137	0.125	0.32445	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.637585	0.34311	19.59	0.20858519992147853	0.00769	0.91270	0.53196	D	AEFBI	0.350599	0.44399	N	-0.428437218003848	0.24476	1.321901	-0.140962237781974	0.33758	1.93443	0.998653122759032	0.37392	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	4.77	0.60425	2.768000	0.47329	5.016000	0.46707	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0724:0.0:0.9276:0.0	14.007	0.63984	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	3938.83	33	chr3	129476757	.	G	A	3938.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.54;DP=937;ExcessHet=0.119;FS=0.4;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.114;SOR=0.736	GT:AD:DP:GQ:PL	0/1:100,74:174:99:1874,0,2652	17	0	2	0
chr3	142459225	142459225	A	G	splicing	ATR	NM_001354579:exon42:c.7157+2T>C;NM_001184:exon43:c.7349+2T>C	.	.	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	0.9779	0.56	.	794342	Seckel_syndrome_1|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0004	9.917e-05	0	0	0	0	0	0.0031	0.0003493	54	154602	rs200556378	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0	1.799e-06	0.0004	0.0032	0.0001	0.0001	6.422e-05	0.0002	0.0035	8.16e-05	6.718e-05	0.0022	0.0018	4.809e-05	0	0	0	0	0	0	0	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30341	0.83239	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.407994	0.68162	25.2	0.97554321019205759	0.34587	0.98281	0.81223	D	AEFDBIJ	.	.	.	0.867105099824678	0.90059	10.23511	0.652768778395702	0.78815	6.953242	0.962538290744902	0.28629	0.156188	0.03335	0	0.156173	0.03658	0	0.083675	0.02720	0	0.092715	0.02821	0	0.808912	0.48015	4.3	3.14	0.35196	7.364000	0.78783	6.189000	0.54741	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.9141:0.0:0.0859:0.0	9.449	0.37876	366	0.84579	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1052.33	34	chr3	142459225	.	A	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=707;ExcessHet=0;FS=2.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.183;SOR=0.882	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1066,0,1319	18	0	1	0
chr3	149140447	149140447	G	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661C:p.V221L	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.025739431246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.209	0.26798	T	0.079	0.24468	B	0.028	0.21332	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.02	0.62918	T	-0.49	0.15578	N	0.235	0.26475	-0.9940	0.31565	T	0.154	0.48412	T	10	0.08933401	0.15465	T	0.025739	0.48694	D	0.031	0.07369	0.24	0.17218	0.609694075345	0.60655	0.2119832897861091	0.21114	0.524358026389	0.50121	0.327225655317	0.14515	T	0.093969	0.39320	T	-0.231716	0.16421	T	-0.570621	0.15393	T	0.0895576784528686	0.11166	T	0.751925	0.37414	T	0.03419477	0.03792	0.046344537	0.06438	0.03419477	0.03791	0.046344537	0.06438	-3.021	0.10409	T	0.15839746414402936	0.19190	0.091	0.13080	B	.	.	1.144967	0.15324	11.76	0.95015166124385597	0.25991	0.18357	0.20227	N	AEFGBI	0.095109	0.19220	N	-0.944638851462693	0.09814	0.4661255	-0.950657822332143	0.10908	0.55243	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	538.67	73	chr3	149140447	.	G	C	538.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.872;DP=1351;ExcessHet=0.3672;FS=95.1;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.9;SOR=9.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,14:83:88:.:.:88,0,2369:.	16	0	2	1
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,36:104:99:.:.:788,0,1389:.	8	0	10	1
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|1:175,42:217:99:0|1:157381267_G_C:1085,0,7223:157381267	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|1:177,42:219:99:0|1:157381267_G_C:1079,0,7286:157381267	9	0	7	3
chr3	157381273	157381273	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1010G:p.T337S,VEPH1:NM_001167912:exon7:c.C1010G:p.T337S,VEPH1:NM_024621:exon7:c.C1010G:p.T337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00350531858902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.747e-05	0.0022	5.293e-05	4.212e-05	5.704e-05	3.724e-05	3.405e-05	4.408e-05	3.984e-05	3.467e-05	0	0	0	1.905e-05	0	5.704e-05	7.641e-05	1.223e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.09458	T	0.224	0.25907	T	0.001	0.07471	B	0.004	0.10090	B	0.068245	0.21685	N	0.513806	0.999999	0.08975	N	0.97	0.24054	L	1.23	0.36872	T	-0.91	0.24676	N	0.15	0.15328	-1.0676	0.09948	T	0.080	0.31705	T	10	0.15599683	0.29389	T	0.003505	0.07939	T	0.040	0.10527	0.225	0.14960	0.180583059064	0.17676	0.10228205871346645	0.10158	0.0361008489801	0.03815	0.28724116087	0.08522	T	0.044067	0.26699	T	-0.281228	0.10538	T	-0.641741	0.09542	T	0.1442781239748	0.16639	T	0.614539	0.23442	T	0.035869364	0.04304	0.04799097	0.07034	0.035869364	0.04303	0.04799097	0.07033	-4.648	0.32769	T	.	.	0.105	0.20430	B	.;.;.	.;.;.	1.456503	0.18780	13.92	0.62458372572789278	0.06968	0.32891	0.24695	N	AEFDBI	0.174348	0.30148	N	-0.672997241274589	0.16794	0.8587321	-0.590103442945406	0.19750	1.061081	0.998887147635486	0.37891	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.59	0.56297	2.485000	0.44909	4.424000	0.43326	-0.153000	0.12021	0.445000	0.26527	0.993000	0.31925	0.780000	0.36908	0.0:0.1397:0.8603:0.0	15.381	0.74372	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	.	.	.	.	.	.	.	.	0.04167	1096.8	48	chr3	157381273	.	G	C	1096.8	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,43:213:99:0|1:157381267_G_C:1107,0,6990:157381267	11	0	1	7
chr3	157381275	157381275	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1008G:p.D336E,VEPH1:NM_001167912:exon7:c.C1008G:p.D336E,VEPH1:NM_024621:exon7:c.C1008G:p.D336E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00635440847357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.135e-06	0.0002	5.489e-06	2.769e-06	5.444e-06	1.49e-06	9.8e-07	1.96e-06	1.29e-06	0	0	0	0	0	0	5.444e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.25873	T	0.051	0.47828	T	0.037	0.20876	B	0.039	0.23607	B	0.000027	0.55875	N	0.155307	0.610768	0.30862	N	1.465	0.36909	L	1.2	0.37405	T	-1.91	0.44471	N	0.329	0.36989	-1.1002	0.04067	T	0.048	0.20632	T	10	0.082680225	0.13672	T	0.006354	0.16696	T	0.085	0.24743	0.307	0.27806	0.117506650769	0.11410	0.22891689739805393	0.22806	0.0443737032538	0.04785	0.632842183113	0.57548	T	0.104774	0.41465	T	-0.210542	0.19303	T	-0.540205	0.18276	T	0.201581314206123	0.20502	T	0.685131	0.29593	T	0.055491958	0.10791	0.073092036	0.15845	0.055491958	0.10791	0.073092036	0.15845	-2.344	0.04911	T	.	.	0.388	0.58913	A	.;.;.	.;.;.	0.953755	0.13297	9.802	0.97893421265121461	0.36690	0.13235	0.17741	N	AEFDBI	0.197331	0.32426	N	-1.3282961693786	0.03355	0.1497388	-1.42487362353296	0.03005	0.1393659	0.999032131386444	0.38264	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	-7.02	0.01433	-0.193000	0.09572	-0.182000	0.11122	-0.106000	0.15538	0.008000	0.17931	0.000000	0.08366	0.779000	0.36868	0.4331:0.2723:0.2946:0.0	7.543	0.26917	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1702.6	48	chr3	157381275	.	G	C	1702.6	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,43:211:99:0|1:157381267_G_C:1113,0,6906:157381267	16	0	1	2
chr3	165059224	165059224	G	C	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon11:c.C1222G:p.L408V	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.334027818939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.924	0.51285	P	0.889	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.19	0.49352	N	0.686	0.69213	0.982	0.96888	D	0.903	0.96789	D	10	0.83913934	0.83068	D	0.334028	0.91831	D	0.739	0.90939	0.691	0.82843	0.741087402981	0.73877	0.566995531822616	0.56627	0.194225081393	0.21761	0.499023616314	0.38692	T	0.340846	0.70982	T	0.19038	0.72998	D	0.0356912	0.72647	D	0.977200090885162	0.71729	D	0.829517	0.49484	T	0.84004134	0.86611	0.7030806	0.82500	0.84004134	0.86613	0.7030806	0.82501	-10.722	0.78111	D	.	.	0.515	0.65256	A	.	.	4.267495	0.64907	24.8	0.99845696734703004	0.92576	0.99060	0.90640	D	AEFI	0.935272	0.92990	D	0.728317240559586	0.81488	7.534111	0.696877462813716	0.82140	7.694244	0.999999081021576	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.748000	0.83977	5.875000	0.50578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	19.576	0.95438	894	0.26265	.	.	.	.	.	.	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	158.33	39	chr3	165059224	.	G	C	158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.305;DP=1042;ExcessHet=0;FS=222.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.25;SOR=8.581	GT:AD:DP:GQ:PL	0/1:101,23:142:99:172,0,2172	18	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,41:193:30:.:.:30,0,3166:.	14	0	5	0
chr3	180604253	180604253	C	T	exonic	TTC14	.	nonsynonymous SNV	TTC14:NM_001042601:exon4:c.C515T:p.S172F,TTC14:NM_001288582:exon4:c.C515T:p.S172F,TTC14:NM_133462:exon4:c.C515T:p.S172F	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0442153925657	0.0029	.	0.0022	0.0004	0.0002	0	0.0005	0.0037	0.0011	0.0005	0.0022768	352	154602	rs138114640	0.0036	0.0036	0.0037	0.0034	0.0044	0.0035	0.0034	0.0043	0.0042	0.0006	0.0004	0.0008	0	0.0014	0.0003	0.0044	0.0028	0.0005	0.0017	0.0017	0.0018	0.0015	0.0030	0.0015	0.0014	0.0026	0.0025	0.0007	0	0.0005	0.0006	0	0.0004	0	0.0030	0.0005	0.0006	0.018	0.68238	D	0.004	0.79402	D	0.981	0.73220	D	0.819	0.69102	P	0.000002	0.62929	D	0.106321	0.999995	0.58761	D	2.775	0.80997	M	0.68	0.51952	T	-2.82	0.65858	D	0.499	0.54496	-0.3182	0.74472	T	0.328	0.69589	T	10	0.0110434	0.00243	T	0.044215	0.61378	D	0.197	0.47942	.	.	0.760563670609	0.75838	0.7308864032049274	0.73033	0.485000296084	0.47400	0.543506741524	0.44941	T	0.224785	0.58933	T	-0.241597	0.15144	T	-0.11748	0.62008	T	0.0448740050196648	0.04579	T	0.928707	0.73770	D	0.32165232	0.54779	0.28533942	0.54536	0.32165232	0.54779	0.28533942	0.54535	-9.03	0.71517	D	.	.	0.39	0.59011	A	.;.;.;.;.	.;.;.;.;.	4.351148	0.66834	25.0	0.99815115056758996	0.89885	0.98802	0.87042	D	AEFDBI	0.635701	0.61512	D	0.747593670358807	0.82746	7.839798	0.694712202429908	0.81974	7.654412	0.999999999999992	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	5.489000	0.66595	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.268	0.89996	606	0.67383	S1 domain;.;.;S1 domain;S1 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	957.33	33	chr3	180604253	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=678;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.604;SOR=0.559	GT:AD:DP:GQ:PL	0/1:27,36:63:99:971,0,676	18	0	1	0
chr3	193335076	193335076	T	C	exonic	ATP13A5	.	nonsynonymous SNV	ATP13A5:NM_198505:exon10:c.A967G:p.T323A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.037069094625	.	0.000399361	0.0001	0	0	0	0	1.5e-05	0	0.0010	0.0001294	20	154602	rs566822422	8.416e-05	8.414e-05	6.127e-05	0.0001	0.0009	7.205e-05	6.652e-05	0.0008	0.0007	0	0	0	0	0	0.0002	2.609e-05	0.0002	0.0009	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.021	0.49117	D	0.018	0.59732	D	0.014	0.16867	B	0.073	0.28123	B	0.000022	0.55875	D	0.074445	0.993991	0.42123	D	1.775	0.45938	L	-2.77	0.90904	D	-4.05	0.74504	D	0.401	0.44187	0.052	0.83279	D	0.653	0.87931	D	10	0.045642614	0.03660	T	0.037069	0.57386	D	0.351	0.67234	0.4	0.42917	0.594367484798	0.59114	0.42871717333102566	0.42788	0.104487865406	0.11823	0.4285145998	0.29005	T	0.262609	0.63420	T	-0.220537	0.17920	T	-0.140004	0.60118	T	0.133136137312446	0.15669	T	0.753825	0.37593	T	0.2531723	0.48337	0.26259074	0.52053	0.2531723	0.48337	0.26259074	0.52052	-8.522	0.64575	D	.	.	0.095	0.14933	B	.	.	3.319698	0.45653	22.2	0.98668470631320726	0.44442	0.96137	0.67702	D	AEFGBI	0.476462	0.51987	N	-0.178366987760621	0.34036	1.937968	-0.0210266282040865	0.38766	2.288728	0.137603735155808	0.17211	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.11	4.96	0.65153	3.804000	0.55272	3.506000	0.38809	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0718:0.0:0.9282	11.181	0.47856	451	0.79296	.	.	.	.	.	.	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	1360.33	37	chr3	193335076	.	T	C	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=737;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-2.11;SOR=0.507	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1374,0,1193	18	0	1	0
chr3	193448239	193448239	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon18:c.A2119G:p.I707V	.	419	1082	21	0	0	21	0.00961098	.	.	.	3199835	ATP13A4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0011	0.00798722	0.0053	0.0002	0.0016	0.0001	0	0.0015	0.0044	0.0316	0.0047541	735	154602	rs139578706	0.0028	0.0028	0.0020	0.0036	0.0284	0.0027	0.0027	0.0275	0.0271	0.0001	0.0015	0.0009	7.557e-05	0	0.0173	0.0011	0.0030	0.0284	0.0020	0.0020	0.0016	0.0025	0.0340	0.0019	0.0018	0.0297	0.0281	0.0001	0	0.0024	0.0006	0.0002	0	0.0204	0.0013	0.0024	0.0340	0.311	0.14064	T	0.311	0.19660	T	0.027	0.19556	B	0.038	0.23361	B	0.004371	0.33816	N	0.249276	0.96754	0.25844	N	0.965	0.23975	L	-0.25	0.67011	T	0.01	0.06868	N	0.326	0.37509	-0.9742	0.36301	T	0.092	0.34983	T	10	0.0068852603	0.00156	T	.	.	.	0.051	0.14325	.	.	0.630113592811	0.62709	0.14474421721900954	0.14397	0.137857802033	0.15542	0.44773003459	0.31633	T	0.306865	0.67905	T	-0.496828	0.00596	T	-0.464806	0.26078	T	0.0173163278083805	0.00471	T	0.375062	0.09032	T	0.12286591	0.28863	0.09017917	0.21131	0.12286591	0.28863	0.09017917	0.21131	-7.554	0.57989	D	.	.	0.073	0.04681	B	.;.	.;.	2.349307	0.30116	18.34	0.97513264720364456	0.34363	0.91546	0.53756	D	AEFBI	0.421381	0.48782	N	-0.202024640915687	0.33050	1.870798	-0.00907672235147589	0.39303	2.328322	0.507512550410884	0.20993	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.84	4.84	0.62125	2.637000	0.46219	1.888000	0.29498	0.665000	0.62972	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.540	0.61128	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.008152	0.017544	0.000000	0.017241	0.006098	0.018939	0.05263	1879.83	38	chr3	193448239	.	T	C	1879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.048;DP=817;ExcessHet=0.119;FS=1.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=1.31;SOR=0.798	GT:AD:DP:GQ:PL	0/1:69,42:111:99:889,0,1687	17	0	2	0
chr3	194341081	194341081	C	A	exonic	CPN2	.	nonsynonymous SNV	CPN2:NM_001080513:exon2:c.G1622T:p.R541L,CPN2:NM_001291988:exon2:c.G1622T:p.R541L	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00681108974781	0.0015	0.00179712	0.0019	0.0005	0.0025	0	0.0002	0.0019	0.0054	0.0046	0.0015459	239	154602	rs150510546	0.0013	0.0013	0.0011	0.0014	0.0121	0.0012	0.0012	0.0097	0.0088	0.0005	0.0018	0.0004	0	0.0001	0.0121	0.0011	0.0018	0.0040	0.0011	0.0010	0.0010	0.0011	0.0050	0.0009	0.0009	0.0034	0.0029	0.0001	0	0.0015	0.0006	0	0	0.0068	0.0014	0.0033	0.0050	0.276	0.15717	T	0.254	0.23433	T	0.001	0.07471	B	0.001	0.04355	B	0.298552	0.03939	N	1.739800	1	0.08975	N	0.345	0.11182	N	0.56	0.54540	T	0.96	0.01488	N	0.092	0.07125	-1.0525	0.13709	T	0.062	0.25780	T	10	0.0036023557	0.00065	T	0.006811	0.18010	T	0.063	0.18251	.	.	0.388653054685	0.38476	0.3873093252239935	0.38645	0.225813559586	0.25129	0.217184200883	0.01154	T	0.133804	0.46469	T	-0.630927	0.00094	T	-0.681481	0.06894	T	0.0484604067682386	0.05227	T	0.39926	0.10144	T	0.040326152	0.05735	0.06738721	0.13933	0.040326152	0.05735	0.06738721	0.13933	-3.187	0.12322	T	.	.	0.081	0.09917	B	.;.	.;.	-1.873188	0.00134	0.002	0.71189580806832742	0.09545	0.01507	0.04986	N	AEFBI	0.185067	0.31239	N	-2.19234984836467	0.00080	0.003417943	-2.30214911587398	0.00066	0.002882801	0.999999999999937	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.7	-11.4	0.00070	-5.139000	0.00174	-11.910000	0.00565	-1.399000	0.01142	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5269:0.0872:0.0625:0.3235	5.067	0.13925	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	0.011078	0.015152	0.009511	0.008772	0.050000	0.034483	0.009146	0.003788	0.05263	1249.83	35	chr3	194341081	.	C	A	1249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.28;DP=736;ExcessHet=0.119;FS=2.302;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.4;SOR=0.495	GT:AD:DP:GQ:PL	0/1:39,27:66:99:680,0,1022	17	0	2	0
chr3	194659010	194659010	C	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon7:c.G706T:p.V236F	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.0857110456141	.	.	0.0002	0	0	0	0	2.999e-05	0	0.0016	0.0002005	31	154602	rs200655440	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0019	0.0018	0	0	0	0	1.872e-05	0.0019	4.946e-05	0.0002	0.0022	7.877e-05	7.874e-05	3.854e-05	0.0001	0.0014	4.492e-05	3.509e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0014	0.003	0.68238	D	0.118	0.36233	T	0.969	0.56768	D	0.881	0.62579	P	0.000010	0.62929	D	0.111723	0.999888	0.50402	D	2.515	0.73286	M	-2.76	0.90848	D	-3.78	0.71519	D	0.732	0.73285	-0.0473	0.81264	T	0.582	0.84973	D	10	0.27880937	0.45451	T	0.085711	0.74588	D	0.656	0.87085	.	.	0.90986826797	0.90896	0.7193633110943062	0.71879	0.15031345319	0.16954	0.357797443867	0.19064	T	0.075844	0.35275	T	-0.0888954	0.38259	T	0.0927472	0.76428	D	0.202415533777771	0.20548	T	0.922208	0.71716	D	0.51328915	0.67872	0.38783762	0.63642	0.51328915	0.67873	0.38783762	0.63642	-8.273	0.62915	D	.	.	0.282	0.51515	B	.	.	3.921894	0.57260	23.8	0.99242888153015285	0.56597	0.95598	0.65363	D	AEFDBCI	0.655663	0.62792	D	0.225134556465787	0.52421	3.416242	0.293555605980121	0.55163	3.679576	0.999999876113343	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	6.17	3.37	0.37692	4.756000	0.61902	1.745000	0.28430	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.7884:0.0:0.2116	10.527	0.44142	932	0.16191	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1235.33	41	chr3	194659010	.	C	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=795;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.79;SOR=0.524	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1249,0,1041	18	0	1	0
chr3	195779322	195779322	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12257_12258insCC:p.S4087Lfs*173	.	512	995	7	3	5	18	0.00649026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0	0	0	0	0.0013	0	0.0018	.	.	.	rs759807858	0.0009	0.0015	0.0008	0.0010	0.0030	0.0009	0.0008	0.0027	0.0025	0.0006	0.0002	0.0047	0	0	0.0024	0.0008	0.0012	0.0030	6.664e-05	0.0006	4.325e-05	9.135e-05	0.0001	2.89e-05	1.969e-05	1.887e-05	1.023e-05	8.228e-05	0	0.0001	0	0	0	0	7.116e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	669.94	296	chr3	195779322	.	A	AGG	669.94	.	AC=2;AF=0.056;AN=36;DP=2953;ExcessHet=0;FS=0;InbreedingCoeff=0.6828;MLEAC=2;MLEAF=0.056;MQ=47.47;QD=36.66;SOR=1.911	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:66:1|1:195779322_A_AGG:696,66,0:195779322	17	1	0	1
chr3	195779325	195779325	A	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.12255delT:p.D4085Efs*174	.	588	918	7	3	6	19	0.00703083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0.0014	0	0.0020	.	.	.	rs753835663	0.0010	0.0014	0.0009	0.0011	0.0033	0.0009	0.0009	0.0029	0.0028	0.0007	0.0002	0.0060	0	0	0.0019	0.0008	0.0014	0.0033	0.0001	0.0009	0.0001	0.0001	0.0003	6.901e-05	5.031e-05	9.147e-05	5.5e-05	0.0003	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	763.94	296	chr3	195779324	.	CA	C	763.94	.	AC=2;AF=0.056;AN=36;DP=2967;ExcessHet=0;FS=0;InbreedingCoeff=0.6828;MLEAC=2;MLEAF=0.056;MQ=47.39;QD=30.13;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:74:1|1:195779322_A_AGG:790,74,0:195779322	17	1	0	1
chr3	195779325	195779325	A	0	exonic	MUC4	.	.	.	.	723	766	9	4	20	37	0.0109748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	1411.3	296	chr3	195779325	.	A	*	1411.3	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.374;DP=3010;ExcessHet=0;FS=3.691;InbreedingCoeff=0.546;MLEAC=3;MLEAF=0.115;MQ=55;MQRankSum=-14;QD=5.53;ReadPosRankSum=-2.874;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:99:1|1:195779322_A_AGG:4713,311,0:195779322	12	1	0	6
chr3	195779327	195779327	C	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.12253delG:p.D4085Mfs*174	.	720	773	7	3	19	32	0.00833868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0.0013	0	0.0020	.	.	.	rs749980001	0.0009	0.0015	0.0008	0.0010	0.0033	0.0009	0.0009	0.0029	0.0028	0.0007	0.0002	0.0059	0	0	0.0018	0.0007	0.0013	0.0033	0.0001	0.0008	0.0001	0.0002	0.0008	6.779e-05	5.069e-05	7.389e-05	4.423e-05	0.0002	0	0.0001	0	0.0008	0	0	9.078e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	2373.07	296	chr3	195779326	.	TC	T	2373.07	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.08;DP=2983;ExcessHet=0.0027;FS=8.452;InbreedingCoeff=0.4772;MLEAC=2;MLEAF=0.067;MQ=55.05;MQRankSum=-14.42;QD=4.41;ReadPosRankSum=-2.887;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:79:1|1:195779322_A_AGG:837,79,0:195779322	14	1	0	4
chr3	195779335	195779335	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12245A:p.P4082H	.	490	1018	7	3	4	17	0.00634456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00180689246163	.	.	0.0009	0	0	0	0	0.0009	0	0.0013	.	.	.	.	0.0007	0.0012	0.0006	0.0008	0.0027	0.0007	0.0006	0.0024	0.0022	8.981e-05	0.0001	0.0045	0	0	0.0021	0.0005	0.0010	0.0027	4.457e-05	0.0002	0	9.163e-05	7.161e-05	1.441e-05	9.01e-06	1.899e-05	1.026e-05	4.107e-05	0	0	0	0	0	0	7.161e-05	0	0	0.072	0.42199	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.18	0.09796	N	0.075	0.04913	-1.0064	0.28034	T	0.037	0.16160	T	7	0.025258154	0.00726	T	0.001807	0.03115	T	0.002	0.00045	0.164	0.06842	0.0138822411134	0.00435	0.006124461012039382	0.00581	.	.	0.525325775146	0.42376	T	.	.	.	-0.33395	0.05817	T	-0.717472	0.04918	T	0.0169262058219215	0.00443	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.;.	.;.	2.130127	0.27116	17.35	0.84023736791277071	0.15053	0.00538	0.02482	N	AEFBI	0.074869	0.15020	N	-1.22839780153285	0.04592	0.2075884	-1.35039577409552	0.03801	0.1780501	1.53857166002041E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	0.829000	0.21929	0.173000	0.17773	0.081000	0.22364	0.001000	0.17328	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	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	.	.	.	.	.	.	.	.	0.05882	1267.42	296	chr3	195779335	.	G	T	1267.42	.	AC=2;AF=0.059;AN=34;DP=2896;ExcessHet=0;FS=0;InbreedingCoeff=0.8137;MLEAC=2;MLEAF=0.059;MQ=43.43;QD=28.73;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:93:1|1:195779322_A_AGG:1293,93,0:195779322	16	1	0	2
chr3	195779344	195779344	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12236C:p.S4079T	.	518	988	7	3	6	19	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00354025192197	.	0.00259585	0.0008	0.0043	0	0	0	0.0008	0	0.0002	0.0006916	18	26028	rs201606843	0.0010	0.0047	0.0007	0.0012	0.0042	0.0009	0.0009	0.0037	0.0036	0.0014	0.0008	0.0074	0.0017	0.0003	0.0008	0.0006	0.0017	0.0042	0.0012	0.0035	0.0014	0.0009	0.0028	0.0009	0.0008	0.0021	0.0018	0.0028	0	0.0008	0	0	0.0004	0.0156	0.0007	0	0	1.0	0.00964	T	0.458	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.31088	N	.	.	.	1.29	0.35775	T	-0.22	0.10480	N	0.055	0.03956	-1.0089	0.27261	T	0.035	0.15074	T	7	0.010114998	0.00226	T	0.00354	0.08062	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.0010827751267465356	0.00100	.	.	0.597083687782	0.52493	T	.	.	.	-0.337964	0.05531	T	-0.723239	0.04641	T	0.000837459423592235	0.00008	T	0.49605	0.15399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	-0.779922	0.01146	0.054	0.2084108579602908	0.00768	0.00091	0.00603	N	AEFBI	0.062084	0.11912	N	-1.85706924428011	0.00420	0.01806415	-1.94315667313069	0.00401	0.01773408	1.71647384336543E-4	0.05786	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.386000	0.20429	-0.460000	0.09044	-2.225000	0.00346	0.024000	0.20007	0.000000	0.08366	0.008000	0.08271	0.0:0.7312:0.0:0.2688	5.400	0.15591	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	.	.	.	.	.	.	.	.	0.05882	1668.42	296	chr3	195779344	.	C	G	1668.42	.	AC=2;AF=0.059;AN=34;DP=2908;ExcessHet=0;FS=0;InbreedingCoeff=0.8137;MLEAC=2;MLEAF=0.059;MQ=44.01;QD=27.39;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:195779322_A_AGG:1694,119,0:195779322	16	1	0	2
chr3	195779348	195779348	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12232G:p.T4078A	.	497	1010	7	3	5	18	0.00639449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00558112130345	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs867000502	0.0008	0.0024	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	9.228e-05	0.0002	0.0068	0.0005	0.0001	0.0007	0.0005	0.0016	0.0038	6.432e-05	0.0005	4.996e-05	7.957e-05	0.0001	2.479e-05	1.564e-05	3.594e-05	2.179e-05	4.781e-05	0	0	0	0	0	0	0.0001	0	0	0.399	0.10517	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.34050	T	-0.2	0.10656	N	0.025	0.01135	-1.0312	0.20066	T	0.036	0.15378	T	7	0.032523215	0.01406	T	0.005581	0.14409	T	0.116	0.32463	0.141	0.04462	0.0138822411134	0.00435	0.0016348145852771723	0.00151	.	.	0.513516902924	0.40715	T	.	.	.	-0.330307	0.06089	T	-0.71224	0.05180	T	0.0395774206418778	0.03613	T	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.;.	.;.	0.063231	0.04735	1.364	0.15367596653047688	0.00373	0.00120	0.00751	N	AEFBI	0.062070	0.11907	N	-1.89793912134882	0.00347	0.01488908	-2.00956016551023	0.00292	0.01290975	2.42342441530431E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.450000	0.21475	-3.779000	0.02542	0.085000	0.17582	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	0.2464:0.2537:0.2463:0.2535	0.133	0.00070	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	1846.8	296	chr3	195779348	.	T	C	1846.8	.	AC=2;AF=0.056;AN=36;DP=2914;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=43.75;QD=28.77;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42:42:99:1|1:195779322_A_AGG:1873,130,0:195779322	17	1	0	1
chr3	195779351	195779351	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12229C:p.D4077H	.	505	1001	7	3	6	19	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00220071018002	.	0.00259585	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs571574310	0.0008	0.0021	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	0.0001	0.0002	0.0068	0.0004	3.314e-05	0.0007	0.0005	0.0016	0.0038	9.644e-05	0.0008	0.0001	8.559e-05	0.0001	4.498e-05	3.167e-05	3.837e-05	2.276e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.3	0.16091	T	0.106	0.38160	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.38	0.15379	N	0.065	0.03841	-1.0614	0.11410	T	0.028	0.11882	T	7	0.0069993734	0.00159	T	0.002201	0.04151	T	0.128	0.35103	0.151	0.05441	0.0138822411134	0.00435	0.002611084531484482	0.00242	.	.	0.556186378002	0.46729	T	.	.	.	-0.363594	0.03931	T	-0.760054	0.03111	T	0.0268409512829791	0.01522	T	0.605039	0.22725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	0.228750	0.06102	2.547	0.1122228957335428	0.00163	0.00416	0.02058	N	AEFBI	0.080898	0.16362	N	-1.54262066526545	0.01577	0.06894808	-1.74102727225216	0.00968	0.04333797	1.43075145935211E-4	0.05573	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.108000	0.10827	-5.597000	0.01661	0.078000	0.17572	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2996:0.4006:0.2998:0.0	2.748	0.04947	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	1981.8	296	chr3	195779351	.	C	G	1981.8	.	AC=2;AF=0.056;AN=36;DP=2916;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=43.45;QD=31.05;SOR=1.038	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:195779322_A_AGG:2008,139,0:195779322	17	1	0	1
chr3	195779372	195779372	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12208A:p.P4070T	.	482	1018	7	6	9	28	0.00924574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0196441212856	.	.	5.894e-05	0	0	0	0	0.0001	0	0	.	.	.	rs867543975	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	4.355e-05	0.0001	0.0064	0	0	0.0021	0.0005	0.0014	0.0035	0.0001	0.0006	9.96e-05	0.0001	0.0006	5.096e-05	3.673e-05	7.037e-05	4.828e-05	0	0	0	0	0.0006	0.0002	0	0.0002	0	0	0.29	0.14996	T	0.199	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29602	T	-0.37	0.15782	N	0.017	0.00226	-1.0077	0.27634	T	0.031	0.13418	T	7	0.034207344	0.01621	T	0.019644	0.42054	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.004583564881801972	0.00431	.	.	0.555163383484	0.46585	T	.	.	.	-0.372528	0.03468	T	-0.772887	0.02674	T	0.0338267409433816	0.02608	T	0.59684	0.22194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.;.	.;.	-0.246798	0.02861	0.404	0.72364385229519168	0.09947	0.00065	0.00468	N	AEFBI	0.046793	0.07810	N	-1.3404336947986	0.03225	0.1436975	-1.45104001981547	0.02761	0.1275674	1.18676957427108E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.340000	0.07868	-8.022000	0.01043	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3306:0.3412:0.3282	2.167	0.03603	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	0.002994	0.000000	0.000000	0.000000	0.000000	0.000000	0.010638	0.006757	0.05556	3217.8	253	chr3	195779372	.	G	T	3217.8	.	AC=2;AF=0.056;AN=36;DP=2823;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=46.03;QD=35.21;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:3244,220,0:195779322	17	1	0	1
chr3	195779374	195779374	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206A:p.S4069N	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0128577008312	.	.	7.978e-05	0	0	0	0	0.0002	0	0	.	.	.	rs150394536	0.0013	0.0011	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0035	5.063e-05	0.0001	0.0083	0	0	0.0008	0.0010	0.0019	0.0041	0.0001	0.0004	6.219e-05	0.0002	0.0002	5.226e-05	3.671e-05	0.0001	7.961e-05	0	0	0	0	0	0	0	0.0002	0	0	0.05	0.39575	D	0.145	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.50976	T	-0.38	0.13418	N	0.027	0.01347	-1.0732	0.08724	T	0.057	0.23980	T	7	0.04491505	0.03503	T	0.012858	0.31797	T	0.043	0.11576	0.132	0.03662	0.0138822411134	0.00435	0.0015149652723430009	0.00140	.	.	0.555448949337	0.46625	T	.	.	.	-0.340207	0.05374	T	-0.72646	0.04489	T	0.0234442759583474	0.01076	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	-0.337979	0.02454	0.282	0.57510427609479231	0.05785	0.00260	0.01424	N	AEFBI	0.098906	0.19920	N	-0.957344642240742	0.09529	0.4513623	-1.15047258852807	0.06760	0.3264632	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	4903.95	250	chr3	195779374	.	C	T	4903.95	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=3;MLEAF=0.125;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:3236,216,0:195779322	11	1	0	7
chr3	195779375	195779375	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12205G:p.S4069G	.	488	1019	3	3	9	18	0.00439668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0128824445826	.	.	5.854e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs747726297	0.0007	0.0007	0.0005	0.0009	0.0034	0.0007	0.0007	0.0031	0.0029	4.264e-05	0.0001	0.0063	0	0	0.0007	0.0004	0.0014	0.0034	3.763e-05	0.0003	2.444e-05	5.152e-05	8.032e-05	9.99e-06	4.77e-06	2.129e-05	1.09e-05	0	0	0	0	0	0	0	8.032e-05	0	0	0.035	0.43708	D	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.46777	T	-1.1	0.28497	N	0.019	0.00618	-1.0692	0.09590	T	0.057	0.24055	T	7	0.055978596	0.06203	T	0.012882	0.31834	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.0018607697187511334	0.00172	.	.	0.519302546978	0.41528	T	.	.	.	-0.32519	0.06481	T	-0.70489	0.05562	T	0.0232069504183903	0.01047	T	0.720928	0.33404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26638	B	.;.	.;.	0.266663	0.06444	2.919	0.30910586073570662	0.01715	0.00752	0.03125	N	AEFBI	0.114220	0.22507	N	-0.993415001990743	0.08743	0.4111488	-1.165294542488	0.06497	0.3129581	1.16204050497744E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.880000	0.04291	-4.866000	0.01950	-1.782000	0.00650	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:1.0E-4:0.4478:0.552	3.255	0.06426	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	3207.8	217	chr3	195779375	.	T	C	3207.8	.	AC=2;AF=0.056;AN=36;DP=2714;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=46.65;QD=34.83;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:3234,215,0:195779322	17	1	0	1
chr3	195779390	195779390	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12190A:p.P4064T	.	455	1056	3	3	5	14	0.00424328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00216979468948	.	.	5.885e-05	0	0	0	0	0.0001	0	0	.	.	.	rs377680835	0.0006	0.0006	0.0005	0.0008	0.0032	0.0006	0.0006	0.0028	0.0027	0	9.694e-05	0.0059	0	0	0.0006	0.0004	0.0012	0.0032	3.747e-05	0.0002	2.434e-05	5.132e-05	8.215e-05	9.95e-06	4.76e-06	2.177e-05	1.103e-05	0	0	0	0	0	0	0	8.215e-05	0	0	0.01	0.56456	D	0.81	0.04079	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.39223	T	1.13	0.01949	N	0.017	0.00372	-1.0497	0.14481	T	0.047	0.20275	T	7	0.05192232	0.05146	T	0.00217	0.04071	T	0.002	0.00045	0.173	0.07894	0.0138822411134	0.00435	0.0015594181715905598	0.00143	.	.	0.556219995022	0.46734	T	.	.	.	-0.278186	0.10861	T	-0.637371	0.09863	T	0.0664544471469562	0.08144	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.	.;.	0.653005	0.10212	6.953	0.80725508010237279	0.13339	0.00023	0.00238	N	AEFBI	0.040914	0.06150	N	-1.22252448038688	0.04675	0.2114811	-1.37461058520955	0.03525	0.1645831	1.93577006927337E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.208000	0.17212	-4.246000	0.02259	0.086000	0.17587	0.669000	0.28339	0.000000	0.08366	0.023000	0.12082	0.3325:0.0:0.6675:0.0	4.395	0.10790	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	.	.	.	.	.	.	.	.	0.05882	3182.61	217	chr3	195779390	.	G	T	3182.61	.	AC=2;AF=0.059;AN=34;DP=2846;ExcessHet=0;FS=0;InbreedingCoeff=0.6904;MLEAC=2;MLEAF=0.059;MQ=48.67;QD=28.54;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:3208,201,0:195779322	16	1	0	2
chr3	195779392	195779392	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12188G:p.T4063S	.	456	1055	3	3	5	14	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00169975901753	.	.	5.896e-05	0	0	0	0	0.0002	0	0	.	.	.	rs549946968	0.0006	0.0006	0.0005	0.0007	0.0030	0.0006	0.0006	0.0027	0.0026	0	9.241e-05	0.0052	0	0	0.0006	0.0004	0.0011	0.0030	3.657e-05	0.0001	2.373e-05	5.014e-05	8.106e-05	9.71e-06	4.69e-06	2.149e-05	1.095e-05	0	0	0	0	0	0	0	8.106e-05	0	0	0.139	0.28646	T	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	1	0.22150	N	.	.	.	1.59	0.31205	T	-0.52	0.18248	N	0.054	0.02559	-1.0065	0.28004	T	0.040	0.17191	T	7	0.053790867	0.05627	T	0.002	0.02830	T	0.024	0.04979	0.094	0.01195	0.0138822411134	0.00435	0.0020188336523209852	0.00186	.	.	0.523128151894	0.42066	T	.	.	.	-0.291532	0.09483	T	-0.656542	0.08502	T	0.0377629015682616	0.03290	T	0.466053	0.13673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	1.256625	0.16543	12.61	0.46672847949078178	0.03756	0.01261	0.04425	N	AEFBI	0.072068	0.14370	N	-1.18907812038378	0.05165	0.2347855	-1.29624405083705	0.04481	0.2114758	8.37637314344522E-5	0.04703	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.083000	0.11250	0.943000	0.22867	0.086000	0.17587	0.333000	0.25615	0.001000	0.17328	0.022000	0.11911	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	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	.	.	.	.	.	.	.	.	0.05882	3182.61	217	chr3	195779392	.	G	C	3182.61	.	AC=2;AF=0.059;AN=34;DP=2843;ExcessHet=0;FS=0;InbreedingCoeff=0.6904;MLEAC=2;MLEAF=0.059;MQ=48.74;QD=23.69;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:3208,201,0:195779322	16	1	0	2
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.2083	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	1|1:0,75:75:99:1|1:195779322_A_AGG:3199,196,0:195779322	8	1	3	7
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009474	0.000000	0.013699	0.014706	0.000000	0.000000	0.000000	0.014085	0.05882	59469.9	189	chr3	195779399	.	G	C	59469.9	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.02;DP=3272;ExcessHet=0;FS=0.638;InbreedingCoeff=0.7185;MLEAC=2;MLEAF=0.059;MQ=56.12;MQRankSum=0.104;QD=34.28;ReadPosRankSum=0.403;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,75:75:99:.:.:7103,491,0:.	16	1	0	2
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,0:75:99:.:.:3569,0,523:.	7	6	3	3
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3477.33	189	chr3	195779404	.	G	C	3477.33	.	AC=2;AF=0.056;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=2;MLEAF=0.056;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:7096,488,0:195779322	17	1	0	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3192.38	189	chr3	195779418	.	A	AGG	3192.38	.	AC=2;AF=0.059;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=2;MLEAF=0.059;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:7090,485,0:195779322	16	1	0	2
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3190.95	189	chr3	195779420	.	CAT	C	3190.95	.	AC=2;AF=0.059;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=2;MLEAF=0.059;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:7090,485,0:195779322	16	1	0	2
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H,MUC4:NM_001322468:exon17:c.C10373A:p.P3458H	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.060920	0.079710	0.028226	0.205357	0.100000	0.000000	0.051136	0.024590	0.05556	3191.99	189	chr3	195779431	.	G	T	3191.99	.	AC=2;AF=0.056;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=2;MLEAF=0.056;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:7090,485,0:195779322	17	1	0	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A,MUC4:NM_001322468:exon17:c.A10360G:p.T3454A	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.171460	0.201493	0.120155	0.395161	0.500000	0.020833	0.193548	0.109375	0.08333	3317.78	189	chr3	195779444	.	T	C	3317.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=3;MLEAF=0.083;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:195779322_A_AGG:7090,485,0:195779322	16	1	1	1
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	820.79	19	chr3	195780215	.	C	*	820.79	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-0.755;DP=8489;ExcessHet=2.1469;FS=13.715;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.208;MQ=55.03;MQRankSum=-8.258;QD=0.49;ReadPosRankSum=0.181;SOR=1.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,51:222:99:0|1:195780165_C_G:1627,0,7019:195780165	8	0	4	7
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H	.	536	587	364	31	4	430	0.26625	.	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	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	1	0	.	.	.	.	.	.	.	.	0.125	11129.9	626	chr3	195781645	.	G	T	11129.9	.	AC=2;AF=0.125;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=4;MLEAF=0.25;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,260:260:99:1|1:195781628_C_T:11144,782,0:195781628	7	1	0	11
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6615.26	804	chr3	195782507	.	G	*	6615.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.789;DP=8144;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=55.73;MQRankSum=-6.257;QD=2.61;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,208:214:99:.:.:8716,449,0:.	14	2	3	0
chr3	195782692	195782692	A	0	exonic	MUC4	.	.	.	.	437	963	105	8	9	130	0.0591109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2334.76	898	chr3	195782692	.	A	*	2334.76	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-3.519;DP=9868;ExcessHet=0.0506;FS=1.163;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.208;MQ=52.78;MQRankSum=-4.59;QD=2.55;ReadPosRankSum=-5.129;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,134:161:99:1|0:195782654_GGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGA_G:6174,0,427:195782654	9	1	2	7
chr3	195782702	195782702	A	0	exonic	MUC4	.	.	.	.	483	896	103	8	32	151	0.0622711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6391.2	942	chr3	195782702	.	A	*	6391.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.125;DP=10537;ExcessHet=0.1504;FS=1.785;InbreedingCoeff=-0.1296;MLEAC=6;MLEAF=0.3;MQ=52.53;MQRankSum=-3.271;QD=3.76;ReadPosRankSum=-0.193;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,134:162:99:1|0:195782654_GGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGA_G:6142,0,478:195782654	7	1	2	9
chr3	195783354	195783354	-	GT	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.8225_8226insAC:p.S2743Lfs*262	.	2	202	1	0	21	22	0.00246914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0013	0.0007	0.0007	0.0061	0.0007	0.0006	0.0037	0.0030	0.0026	0.0007	0.0014	0.0004	0.0014	0.0061	0.0006	0.0014	0.0002	0.0001	0.0003	0.0001	9.938e-05	0.0003	5.598e-05	4.188e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	537.57	239	chr3	195783354	.	A	AGT	537.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.27;DP=1975;ExcessHet=0.0113;FS=21.369;InbreedingCoeff=0.3265;MLEAC=1;MLEAF=0.029;MQ=37.44;MQRankSum=2.87;QD=3.79;ReadPosRankSum=-0.834;SOR=2.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,16:55:99:.:.:550,0,1479:.	16	0	1	2
chr3	195783357	195783357	-	GGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.8222_8223insCACTTACTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACC:p.E2741Dfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0008	0.0019	0.0018	0.0174	0.0017	0.0016	0.0108	0.0087	0.0046	0.0022	0.0037	0.0011	0.0054	0.0174	0.0014	0.0042	0.0004	0.0006	0.0002	0.0006	0.0007	0.0017	0.0003	0.0002	0.0007	0.0004	0.0017	0	0.0014	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4679.71	226	chr3	195783357	.	C	CGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTG	4679.71	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=1904;ExcessHet=0.0234;FS=5.732;InbreedingCoeff=0.0733;MLEAC=2;MLEAF=0.143;MQ=47.81;MQRankSum=-0.674;QD=18.64;ReadPosRankSum=-0.967;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,21:58:99:.:.:2241,1473,1419:.	6	0	1	12
chr3	195783415	195783415	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8165A:p.P2722H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000511194972926	.	.	0.0003	0	0	0.0029	0	0.0004	0	0	.	.	.	rs757915947	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0027	0.0025	0	0	0.0010	0.0033	0.0008	0.0006	7.44e-05	0.0006	0.0002	3.194e-05	0.0004	0	6.51e-05	0.0006	0	0	.	.	0	0	0	0	0.0006	0	0	0	0	0	0.189	0.23997	T	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.20292	N	.	.	.	1.48	0.31987	T	-0.42	0.20358	N	0.096	0.07673	-1.0016	0.29459	T	0.032	0.13898	T	6	0.010089844	0.00226	T	5.11E-4	0.00163	T	0.014	0.01968	0.19	0.10039	0.0297737177859	0.01360	8.704670884257128E-5	0.00007	.	.	0.542042016983	0.44734	T	.	.	.	-0.341949	0.05253	T	-0.728962	0.04374	T	0.0409642838981407	0.03865	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	1.363002	0.17722	13.33	0.3891870080358984	0.02654	0.00088	0.00587	N	AEFBI	0.034961	0.04420	N	-0.933277390823719	0.10070	0.4795295	-1.12522507782047	0.07221	0.3504127	1.81192519909741E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-1.38	0.08554	-3.524000	0.00493	-1.108000	0.06307	0.061000	0.17545	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.2797:0.0:0.3924:0.3279	1.629	0.02564	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	0.003623	0.000000	0.020000	0.000000	0.000000	0.000000	0.000000	0.000000	0.0625	888.95	36	chr3	195783415	.	G	T	888.95	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.35;DP=720;ExcessHet=0.1424;FS=3.319;InbreedingCoeff=0.2166;MLEAC=2;MLEAF=0.063;MQ=43.34;MQRankSum=1.06;QD=15.6;ReadPosRankSum=1.16;SOR=0.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,12:13:6:0|1:195783415_G_T:501,0,6:195783415	14	0	2	3
chr3	195783428	195783428	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8152G:p.T2718A	.	597	866	30	28	1	87	0.0473047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.0237	0.0238	0.0833	0.0417	0.0076	0.0226	0.1364	0.0264	0.0005239	81	154602	rs749577790	0.0010	0.0025	0.0011	0.0009	0.0178	0.0009	0.0009	0.0156	0.0147	0.0178	0.0020	0.0013	0.0013	0.0004	0.0025	0.0006	0.0018	0.0006	0.0005	0.0020	0.0006	0.0005	0.0026	0.0003	0.0002	0.0011	0.0008	0.0026	0	0	0	0	0	0	0.0003	0	0	0.533	0.06957	T	0.021	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-0.25	0.11008	N	0.088	0.06587	-1.0018	0.29401	T	0.031	0.13330	T	6	0.004846126	0.00103	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	7.087951438264742E-5	0.00006	.	.	0.493092894554	0.37868	T	.	.	.	-0.380284	0.03103	T	-0.784028	0.02334	T	0.0124774696351845	0.00205	T	0.545645	0.18668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07177	B	.;.	.;.	0.114009	0.05128	1.655	0.30242050217476973	0.01644	0.00332	0.01732	N	AEFBI	0.043707	0.06942	N	-0.975987764756456	0.09118	0.4302547	-1.13514259483109	0.07037	0.3408692	1.82519108507176E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	-2.656000	0.00926	-1.039000	0.06521	-2.107000	0.00391	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	4.216	0.09993	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	0.011628	0.013889	0.020833	0.000000	0.000000	0.000000	0.000000	0.000000	0.05882	244.87	36	chr3	195783428	.	T	C	244.87	.	AC=2;AF=0.059;AN=34;DP=711;ExcessHet=0;FS=10.072;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=36.84;QD=4.01;SOR=4.47	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:195783415_G_T:270,18,0:195783415	16	1	0	2
chr3	195783431	195783431	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8149C:p.D2717H	.	606	857	30	28	1	87	0.0477778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	.	0.0339	0.1379	0.1111	0.0417	0.0090	0.0348	0.1364	0.0275	0.0006145	95	154602	rs867961643	0.0013	0.0030	0.0014	0.0013	0.0157	0.0013	0.0012	0.0135	0.0127	0.0157	0.0032	0.0019	0.0021	0.0006	0.0034	0.0008	0.0021	0.0015	0.0006	0.0021	0.0006	0.0006	0.0026	0.0003	0.0002	0.0010	0.0007	0.0026	0	0	0	0	0	0	0.0004	0	0	0.3	0.24661	T	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.48	0.31731	T	-0.37	0.13805	N	0.069	0.07262	-1.0452	0.15767	T	0.026	0.11353	T	6	0.0033222735	0.00057	T	.	.	.	0.010	0.01040	0.179	0.08626	0.0138822411134	0.00435	1.6551406321450152E-4	0.00014	.	.	0.543667495251	0.44963	T	.	.	.	-0.372147	0.03487	T	-0.77234	0.02692	T	0.0237382436057755	0.01113	T	0.70183	0.31167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27998	B	.;.	.;.	0.432875	0.08032	4.752	0.15393519927946278	0.00375	0.00086	0.00577	N	AEFBI	0.041390	0.06286	N	-1.75355711707499	0.00669	0.02886574	-1.93702347512985	0.00413	0.01825583	0.00154248320366266	0.08631	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-6.511000	0.00078	-4.662000	0.02045	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2545:0.2918:0.4537	2.400	0.04131	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	0.189286	0.166667	0.020833	0.360000	0.000000	0.083333	0.173077	0.181818	0.05882	157.03	36	chr3	195783431	.	C	G	157.03	.	AC=2;AF=0.059;AN=34;DP=707;ExcessHet=0;FS=9.927;InbreedingCoeff=0.9355;MLEAC=1;MLEAF=0.029;MQ=37.58;QD=2.66;SOR=4.398	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195783415_G_T:180,12,0:195783415	16	1	0	2
chr3	195784267	195784290	ACGTTGGTGACAGGAAGACGGGTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7290_7313del:p.T2431_V2438del,MUC4:NM_001322468:exon7:c.7242_7265del:p.P2415_A4615delinsTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	424	1077	8	0	13	21	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.276e-05	0	0	0	0	0.0002	0	0	.	.	.	rs773708999	0.0024	0.0088	0.0023	0.0024	0.0156	0.0023	0.0023	0.0125	0.0113	0.0034	0.0042	0.0047	0	0.0029	0.0156	0.0021	0.0034	0.0026	0.0001	0.0015	0.0001	0.0002	0.0005	9.324e-05	7.791e-05	0.0002	0.0002	0.0001	0	0.0005	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	4156.99	1016	chr3	195784266	.	AACGTTGGTGACAGGAAGACGGGTG	A	4156.99	.	AC=1;AF=0.033;AN=30;BaseQRankSum=6.82;DP=13448;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=57.17;MQRankSum=-17.97;QD=5.09;ReadPosRankSum=-1.41;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:664,152:816:99:0|1:195784172_T_C:4169,0,27385:195784172	14	0	1	4
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	57016.6	1258	chr3	195784271	.	T	*	57016.6	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.013;DP=17952;ExcessHet=12.1646;FS=0;InbreedingCoeff=-0.4421;MLEAC=1;MLEAF=0.028;MQ=59.33;MQRankSum=-3.66;QD=4.45;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:664,152:816:99:0|1:195784172_T_C:4169,0,27385:195784172	17	0	1	1
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del,MUC4:NM_001322468:exon7:c.7214_7237del:p.G2405_A4615delinsASPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	3930.97	1413	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	3930.97	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.52;DP=17742;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=57.21;MQRankSum=-17.91;QD=4.07;ReadPosRankSum=-5.19;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:809,157:966:99:0|1:195784172_T_C:3943,0,33289:195784172	14	0	1	4
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2359.08	1413	chr3	195784299	.	T	*	2359.08	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.249;DP=17823;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.033;MQ=59.22;MQRankSum=2.37;QD=1.11;ReadPosRankSum=2.39;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:809,157:966:99:0|1:195784172_T_C:3943,0,33289:195784172	14	0	1	4
chr3	195784340	195784340	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7240A:p.A2414T,MUC4:NM_001322468:exon7:c.G7192A:p.A2398T	.	460	1045	15	2	0	19	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00433362787869	.	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs200964957	0.0022	0.0036	0.0020	0.0024	0.0109	0.0021	0.0021	0.0083	0.0074	0.0032	0.0050	0.0043	0	0.0036	0.0109	0.0019	0.0030	0.0032	0.0007	0.0039	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0006	0.0011	0	0.0013	0.0008	0	0	0	0.0006	0.0008	0.0006	0.575	0.13219	T	0.299	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.38	0.34050	T	0.17	0.06612	N	0.043	0.01658	-1.0104	0.26791	T	0.028	0.11926	T	7	0.032047182	0.01349	T	0.004334	0.10529	T	0.017	0.02790	.	.	0.0138822411134	0.00435	4.8440990828133E-4	0.00044	.	.	0.495961010456	0.38265	T	.	.	.	-0.334216	0.05799	T	-0.717854	0.04901	T	0.00313935512708717	0.00033	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.;.	.;.	0.528788	0.08976	5.756	0.94107301117828379	0.24274	0.00235	0.01311	N	AEFBCI	0.041178	0.06227	N	-1.31152042636515	0.03542	0.1584179	-1.39536983910569	0.03301	0.1537084	1.36829983409383E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-4.156000	0.00322	-4.105000	0.02340	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	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	0.025384	0.036842	0.016340	0.057522	0.000000	0.010638	0.021875	0.003968	0.02778	5140.72	1991	chr3	195784340	.	C	T	5140.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.675;DP=18148;ExcessHet=0;FS=0;InbreedingCoeff=0.2963;MLEAC=1;MLEAF=0.028;MQ=56.82;MQRankSum=-17.01;QD=5.07;ReadPosRankSum=-9.381;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:821,193:1014:99:0|1:195784172_T_C:5154,0,32546:195784172	17	0	1	1
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D,MUC4:NM_001322468:exon7:c.C7189G:p.H2397D	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	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	0.037603	0.042553	0.035599	0.082609	0.000000	0.021277	0.028481	0.007937	0.02778	6177.6	1991	chr3	195784343	.	G	C	6177.6	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.241;DP=18333;ExcessHet=0.1259;FS=1.338;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=56.85;MQRankSum=-4.309;QD=5.01;ReadPosRankSum=-9.079;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:815,216:1031:99:0|1:195784172_T_C:5137,0,32231:195784172	17	0	1	1
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	22762.9	1058	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	22762.9	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.304;DP=13211;ExcessHet=0.0101;FS=0.518;InbreedingCoeff=0.3698;MLEAC=4;MLEAF=0.111;MQ=52.52;MQRankSum=-14.42;QD=22.16;ReadPosRankSum=-11.01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,145:370:99:0|1:195785732_T_TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC:4751,0,8795:195785732	15	1	2	1
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9934.29	76	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	9934.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.528;DP=1129;ExcessHet=0;FS=10.747;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=38.75;MQRankSum=0.506;QD=30.38;ReadPosRankSum=-7.767;SOR=2.31	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1920,0,2244	16	2	1	0
chr3	195788386	195788386	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3194A:p.A1065E,MUC4:NM_001322468:exon4:c.C3194A:p.A1065E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	.	0.0012	0.0137	0	0	0	0.0005	0	0	0.0002305	6	26028	rs867474974	0.0002	0.0012	0.0002	0.0002	0.0037	0.0002	0.0002	0.0029	0.0026	0.0037	0.0007	0.0002	5.714e-05	0.0001	0.0002	0.0001	0.0003	0.0002	0.0007	0.0015	0.0006	0.0008	0.0039	0.0006	0.0006	0.0033	0.0030	0.0039	0	0.0003	0.0003	0	0	0	6.191e-05	0	0	0.089	0.35918	T	0.023	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.17	0.09627	N	0.07	0.32037	-1.0034	0.28933	T	0.036	0.15553	T	8	0.005916208	0.00133	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.003948554940629903	0.00369	.	.	0.397288918495	0.24692	T	.	.	.	-0.290132	0.09622	T	-0.654531	0.08639	T	0.0267039674841368	0.01503	T	0.742326	0.36163	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47997	B	.;.	.;.	1.132573	0.15190	11.66	0.64209205409267334	0.07431	0.01103	0.04044	N	AEFBI	0.059355	0.11204	N	-1.72164472824251	0.00768	0.03316299	-1.81440952154314	0.00714	0.03181751	1.36224800253507E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.573	-1.15	0.09211	-4.025000	0.00351	-6.780000	0.01308	-1.958000	0.00478	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5176:0.0:0.4824:0.0	4.100	0.09482	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	0.016939	0.010753	0.033951	0.004464	0.050000	0.000000	0.006369	0.004237	0.02632	6092.33	717	chr3	195788386	.	G	T	6092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.301;DP=9168;ExcessHet=0;FS=5.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=-4.063;QD=13.66;ReadPosRankSum=-0.579;SOR=1.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,178:446:99:0|1:195788373_G_A:6106,0,10710:195788373	18	0	1	0
chr3	195788423	195788423	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3157C:p.D1053H,MUC4:NM_001322468:exon4:c.G3157C:p.D1053H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00124631409427	.	.	0.0001	0.0018	0	0	0	0	0	0	.	.	.	rs779864878	0.0013	0.0029	0.0013	0.0012	0.0040	0.0012	0.0012	0.0034	0.0032	0.0026	0.0040	0.0020	0.0003	0.0003	0.0005	0.0012	0.0011	0.0014	0.0007	0.0018	0.0007	0.0006	0.0035	0.0005	0.0005	0.0027	0.0025	0.0035	0	0.0004	0	0.0002	0.0001	0	0.0001	0.0007	0	0.24	0.23007	T	0.099	0.38891	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-0.23	0.10656	N	0.079	0.09066	-1.0246	0.22214	T	0.042	0.17952	T	8	0.012852192	0.00275	T	0.001246	0.01658	T	0.003	0.00094	0.222	0.14518	0.0138822411134	0.00435	0.0025534802943244636	0.00237	.	.	0.454276353121	0.32528	T	.	.	.	-0.366472	0.03776	T	-0.764188	0.02965	T	0.0253438661795726	0.01318	T	0.632737	0.24712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.;.	.;.	1.408190	0.18233	13.62	0.65317868333146878	0.07738	0.00066	0.00474	N	AEFBI	0.044773	0.07245	N	-1.98166725549338	0.00232	0.009929117	-2.08329739263822	0.00202	0.008921747	6.32892867691061E-5	0.04366	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.814	-1.63	0.07900	-0.133000	0.10430	-5.055000	0.01868	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3091:0.238:0.4529	2.947	0.05492	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	0.001239	0.000000	0.001712	0.000000	0.000000	0.000000	0.000000	0.000000	0.02778	3811.71	674	chr3	195788423	.	C	G	3811.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.868;DP=8650;ExcessHet=0;FS=4.829;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.31;MQRankSum=-3.502;QD=10.53;ReadPosRankSum=10.13;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,120:362:99:0|1:195788373_G_A:3825,0,9770:195788373	17	0	1	1
chr3	195788434	195788434	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3146T:p.A1049V,MUC4:NM_001322468:exon4:c.C3146T:p.A1049V	.	467	1053	1	0	1	2	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000568179270928	.	.	0.0002	0	0	0	0	0.0006	0	0	3.88e-05	6	154602	rs13077555	0.0008	0.0027	0.0008	0.0008	0.0023	0.0008	0.0007	0.0018	0.0017	0.0009	0.0023	0.0023	2.935e-05	0.0002	0.0010	0.0008	0.0005	0.0008	4.589e-05	0.0004	5.993e-05	3.125e-05	0.0002	1.947e-05	1.282e-05	5.12e-06	1.92e-06	3.642e-05	0	7.255e-05	0.0003	0.0002	0	0	3.087e-05	0	0	0.769	0.03392	T	0.04	0.51112	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.13	0.08971	N	0.106	0.10340	-1.0216	0.23195	T	0.035	0.15160	T	8	0.013029456	0.00278	T	5.68E-4	0.00233	T	0.013	0.01715	.	.	0.0138822411134	0.00435	6.776312928360077E-4	0.00062	.	.	0.404170304537	0.25649	T	.	.	.	-0.309213	0.07818	T	-0.68194	0.06865	T	0.0202551340078644	0.00725	T	0.634137	0.24845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.;.	.;.	-0.811073	0.01086	0.048	0.96692224136448046	0.30741	0.00223	0.01258	N	AEFBI	0.035508	0.04582	N	-1.87536734771267	0.00386	0.01657636	-1.98733659176661	0.00326	0.01438037	0.00294809772929446	0.09819	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.577	-1.15	0.09211	1.381000	0.33969	1.366000	0.25918	-1.743000	0.00699	0.004000	0.16614	0.001000	0.17328	0.002000	0.04165	0.4294:0.0:0.329:0.2415	2.178	0.03631	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	0.003641	0.010417	0.003257	0.008772	0.000000	0.000000	0.000000	0.000000	0.02778	3845.71	674	chr3	195788434	.	G	A	3845.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.942;DP=8221;ExcessHet=0;FS=4.837;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.95;MQRankSum=-3.424;QD=10.86;ReadPosRankSum=9.54;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,120:354:99:0|1:195788373_G_A:3859,0,9425:195788373	17	0	1	1
chr3	195788443	195788443	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T3137C:p.F1046S,MUC4:NM_001322468:exon4:c.T3137C:p.F1046S	.	516	1004	1	0	1	2	0.00049776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.127396	0.0013	0.0132	0	0	0	0.0006	0	0	0.0245505	639	26028	rs556018023	0.0020	0.0032	0.0020	0.0019	0.0081	0.0019	0.0019	0.0072	0.0068	0.0081	0.0054	0.0046	0.0003	0.0005	0.0021	0.0018	0.0018	0.0020	0.0033	0.0039	0.0030	0.0036	0.0117	0.0030	0.0029	0.0106	0.0102	0.0117	0	0.0014	0.0008	0.0003	0.0002	0.0100	0.0003	0.0044	0.0004	0.839	0.03544	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	-0.27	0.11366	N	0.133	0.13769	-1.0155	0.25175	T	0.039	0.16892	T	8	0.004041642	0.00079	T	.	.	.	0.012	0.01476	.	.	0.0138822411134	0.00435	0.005755218264974699	0.00545	.	.	0.395828127861	0.24488	T	.	.	.	-0.265592	0.12253	T	-0.619281	0.11241	T	0.000306852374594948	0.00002	T	0.637636	0.25136	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.;.	.;.	-0.336942	0.02459	0.283	0.82487914441247479	0.14218	0.00059	0.00440	N	AEFBI	0.020474	0.00813	N	-1.77921514338153	0.00598	0.02576686	-1.85602667437965	0.00596	0.0264733	1.20824973979081E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.814	-0.378	0.11875	0.142000	0.15917	-1.754000	0.04787	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.2533:0.3376:0.0	2.750	0.04954	604	0.67577	.;.	.	.	.	.	.	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	0.020631	0.015464	0.027331	0.026316	0.000000	0.000000	0.014085	0.018018	0.03125	3863.77	674	chr3	195788443	.	A	G	3863.77	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.733;DP=8172;ExcessHet=0;FS=4.001;InbreedingCoeff=0.2806;MLEAC=1;MLEAF=0.031;MQ=57.92;MQRankSum=-3.732;QD=11.04;ReadPosRankSum=7.1;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,120:350:99:0|1:195788373_G_A:3876,0,9253:195788373	15	0	1	3
chr3	195788530	195788530	A	0	exonic	MUC4	.	.	.	.	496	1011	8	0	7	15	0.00394089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8145.32	554	chr3	195788530	.	A	*	8145.32	.	AC=1;AF=0.071;AN=14;BaseQRankSum=6.12;DP=6522;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.2667;MLEAC=2;MLEAF=0.143;MQ=56.73;MQRankSum=0.433;QD=11.13;ReadPosRankSum=-0.576;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,47:335:99:0|1:195788373_G_A:727,0,11723:195788373	6	0	1	12
chr3	195788539	195788539	G	0	exonic	MUC4	.	.	.	.	470	1039	8	0	5	13	0.00383509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	8374.57	594	chr3	195788539	.	G	*	8374.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.14;DP=7052;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=56.57;MQRankSum=1.39;QD=11.32;ReadPosRankSum=1.26;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,47:335:99:0|1:195788373_G_A:727,0,11723:195788373	16	0	1	2
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	16785.5	539	chr3	195788543	.	T	*	16785.5	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.948;DP=6476;ExcessHet=0.8031;FS=0.556;InbreedingCoeff=-0.2398;MLEAC=2;MLEAF=0.111;MQ=57.24;MQRankSum=-4.112;QD=12.93;ReadPosRankSum=2.17;SOR=0.644	GT:AD:DP:GQ:PL	0/1:171,39:211:99:5594,0,8602	8	0	1	10
chr3	195788677	195788677	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2903T:p.T968M,MUC4:NM_001322468:exon3:c.C2903T:p.T968M	.	417	1085	20	0	0	20	0.00913242	.	.	.	2822249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0022	0.00499201	0.0032	0.0006	0.0008	0	0	0.0030	0.0052	0.0094	0.0025226	390	154602	rs62282503	0.0027	0.0027	0.0025	0.0029	0.0076	0.0026	0.0026	0.0072	0.0070	0.0007	0.0004	0.0165	5.04e-05	0	0.0057	0.0023	0.0043	0.0076	0.0020	0.0020	0.0021	0.0019	0.0104	0.0018	0.0017	0.0081	0.0073	0.0004	0.0088	0.0009	0.0173	0	0	0.0034	0.0022	0.0014	0.0104	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.119835	0.02715	N	2.069380	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.6	0.17834	N	0.13	0.26233	-1.0296	0.20583	T	0.034	0.14769	T	10	0.0057825744	0.00129	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.0031421507045275004	0.00293	.	.	0.356689542532	0.18903	T	.	.	.	-0.546085	0.00308	T	-0.551922	0.17142	T	0.0117893886558595	0.00182	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.	.;.	1.057089	0.14384	10.96	0.24927879123083707	0.01125	0.01512	0.04997	N	AEFBI	0.058391	0.10953	N	-1.31518238147632	0.03500	0.1564828	-1.36173198250375	0.03669	0.1716494	1.67131872455135E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.22	0.249	0.14790	0.934000	0.28510	0.036000	0.13800	-0.325000	0.05822	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1593:0.0:0.5729:0.2679	3.446	0.07050	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	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.02632	5774.33	315	chr3	195788677	.	G	A	5774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=3965;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=-1.731;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,152:281:99:0|1:195788677_G_A:5788,0,4624:195788677	18	0	1	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	461.33	34	chr4	1081428	.	G	C	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=628;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=1.56;SOR=1.44	GT:AD:DP:GQ:PL	0/1:16,15:31:99:475,0,438	18	0	1	0
chr4	3317781	3317781	G	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_002926:exon2:c.G1611T:p.W537C,RGS12:NM_198229:exon2:c.G1611T:p.W537C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.091642633199	0.0040	0.000998403	0.0026	0.0008	0.0003	0	0.0008	0.0044	0.0011	0.0004	0.0027361	423	154602	rs150230031	0.0050	0.0050	0.0051	0.0048	0.0061	0.0049	0.0048	0.0059	0.0059	0.0007	0.0006	0.0028	0	0.0016	0.0003	0.0061	0.0047	0.0003	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0007	0	0.0012	0.0017	0	0.0005	0	0.0054	0.0019	0.0004	0.002	0.72154	D	0.02	0.59732	D	0.999	0.77913	D	0.885	0.68276	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.29	0.35775	T	-3.19	0.64593	D	0.914	0.91621	-0.8650	0.50900	T	0.142	0.46275	T	10	0.029279321	0.01055	T	0.091643	0.75744	D	0.262	0.57482	0.679	0.81691	0.350307294319	0.34646	0.6994801406948032	0.69889	0.911187721119	0.71071	0.65148550272	0.60196	T	0.283693	0.65646	T	-0.114724	0.33988	T	0.0703921	0.74937	D	0.0130448355480089	0.00227	T	0.933407	0.75038	D	0.5211982	0.68328	0.51377946	0.71905	0.5211982	0.68329	0.51377946	0.71905	-2.004	0.03196	T	.	.	0.961	0.88195	P	.;.;.	.;.;.	4.060062	0.60248	24.2	0.9906377291193742	0.51551	0.98845	0.87614	D	AEFBI	0.766977	0.70299	D	0.584939458282401	0.72234	5.773765	0.540975175306468	0.70773	5.554522	0.999999999739933	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	7.062000	0.76404	8.299000	0.76929	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	15.818	0.78396	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1007.33	35	chr4	3317781	.	G	T	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.364;DP=916;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-2.235;SOR=1.002	GT:AD:DP:GQ:PL	0/1:29,34:63:99:1021,0,836	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	0/1:78,40:118:99:247,0,1735	1	0	18	0
chr4	8228200	8228200	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G2278A:p.V760M,SH3TC1:NM_018986:exon12:c.G2506A:p.V836M	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0318912539601	0.0006	0.000199681	0.0006	0.0007	0.0004	0	0	0.0005	0	0.0018	0.0006145	95	154602	rs140746956	0.0009	0.0009	0.0009	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0008	0.0004	0	5.049e-05	0	0.0005	0.0009	0.0006	0.0019	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0006	0	6.535e-05	0	0	0	0	0.0008	0	0.0017	0.346	0.12469	T	0.191	0.28391	T	0.723	0.42412	P	0.187	0.36167	B	0.222576	0.03465	N	1.592370	1	0.08975	N	0.205	0.09354	N	-0.58	0.71425	T	-0.66	0.19085	N	0.061	0.03283	-0.8804	0.49730	T	0.151	0.47944	T	10	0.013240755	0.00282	T	0.031891	0.53858	D	0.137	0.36984	.	.	0.328486982098	0.32448	0.18838147186634122	0.18756	0.0316959262422	0.03287	0.49634540081	0.38319	T	0.002302	0.01700	T	-0.511855	0.00490	T	-0.532648	0.19023	T	0.0105545901806637	0.00147	T	0.747125	0.36767	T	0.050338585	0.09078	0.0361526	0.03006	0.050338585	0.09078	0.0361526	0.03006	-8.957	0.67420	D	.	.	0.131	0.28086	B	.	.	0.275511	0.06528	3.011	0.74674896918866374	0.10784	0.02441	0.06877	N	AEFDBCI	0.039259	0.05677	N	-1.12110596710774	0.06269	0.2881153	-1.34107236586164	0.03912	0.1834625	0.999999999414198	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.603688	0.36954	0	0.735409	0.98432	0	.	.	4.5	-9.0	0.00641	-0.030000	0.12257	-4.790000	0.01985	0.590000	0.31872	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.5027:0.32:0.0839:0.0933	4.855	0.12917	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	949.33	89	chr4	8228200	.	G	A	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=1257;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.106;SOR=0.844	GT:AD:DP:GQ:PL	0/1:31,31:62:99:963,0,803	18	0	1	0
chr4	8228326	8228326	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2404T:p.R802W,SH3TC1:NM_018986:exon12:c.C2632T:p.R878W	.	405	1069	45	3	0	51	0.0232983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0080	0.00379393	0.0085	0.0024	0.0107	0	0.0017	0.0110	0.0114	0.0079	0.008247	1275	154602	rs116515695	0.0099	0.0099	0.0099	0.0100	0.0162	0.0098	0.0097	0.0135	0.0125	0.0018	0.0120	0.0133	0.0002	0.0026	0.0162	0.0109	0.0094	0.0075	0.0083	0.0083	0.0085	0.0081	0.0155	0.0079	0.0077	0.0139	0.0132	0.0023	0.0022	0.0155	0.0156	0	0.0028	0.0102	0.0116	0.0104	0.0064	0.018	0.50676	D	0.062	0.45318	T	0.864	0.47514	P	0.263	0.39594	B	0.005741	0.32538	N	0.326308	1	0.08975	N	2.885	0.83555	M	-0.26	0.67187	T	-5.73	0.87611	D	0.505	0.53708	-0.8657	0.50849	T	0.112	0.40006	T	10	0.009637147	0.00217	T	.	.	.	0.278	0.59497	.	.	0.484913652648	0.48122	0.46698923295145245	0.46617	0.218053028388	0.24340	0.481912225485	0.36321	T	0.240283	0.60858	T	-0.428911	0.01505	T	-0.375252	0.36277	T	0.1097481939629	0.13398	T	0.847115	0.52772	T	0.059006594	0.11940	0.089378275	0.20897	0.059006594	0.11940	0.089378275	0.20896	-8.491	0.64370	D	.	.	0.108	0.20430	B	.	.	1.805067	0.22940	15.82	0.93402194401286565	0.23161	0.03711	0.08995	N	AEFDBHCI	0.344076	0.43968	N	-1.09239725191294	0.06782	0.3132109	-1.29245337101502	0.04532	0.2139726	0.999999999899822	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.603688	0.36954	0	0.683672	0.66515	0	.	.	4.54	-9.07	0.00619	-0.033000	0.12196	0.036000	0.13800	-0.316000	0.05924	0.001000	0.13787	0.096000	0.22607	0.002000	0.04165	0.2556:0.442:0.0:0.3024	8.168	0.30395	988	0.01987	.	.	.	.	.	rs116515695	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012614	0.015152	0.010870	0.000000	0.000000	0.000000	0.024540	0.015152	0.05263	1530.83	89	chr4	8228326	.	C	T	1530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=1263;ExcessHet=0.119;FS=7.808;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.295;SOR=1.174	GT:AD:DP:GQ:PL	0/1:36,32:68:99:902,0,861	17	0	2	0
chr4	8232023	8232023	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2770G:p.M924V,SH3TC1:NM_018986:exon13:c.A2998G:p.M1000V	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0076	0.00439297	0.0075	0.0020	0.0104	0.0001	0.0015	0.0099	0.0088	0.0054	0.0074126	1146	154602	rs146877451	0.0093	0.0093	0.0094	0.0093	0.0147	0.0092	0.0092	0.0122	0.0113	0.0019	0.0110	0.0044	0.0001	0.0024	0.0147	0.0105	0.0088	0.0060	0.0079	0.0079	0.0081	0.0077	0.0169	0.0075	0.0074	0.0152	0.0146	0.0020	0.0022	0.0169	0.0075	0	0.0024	0.0102	0.0112	0.0095	0.0050	1.0	0.00964	T	0.545	0.09588	T	0.001	0.07471	B	0.006	0.12133	B	0.869057	0.07164	N	1.059180	1	0.08975	N	0.885	0.21608	L	-0.9	0.74896	T	-0.59	0.17624	N	0.32	0.36043	-1.0194	0.23910	T	0.133	0.44524	T	10	0.005713284	0.00127	T	.	.	.	0.126	0.34673	.	.	0.407767136052	0.40396	0.19877772153993326	0.19794	0.0269784543744	0.02755	0.347499221563	0.17553	T	0.001755	0.01176	T	-0.421108	0.01683	T	-0.365993	0.37356	T	0.00322139377332797	0.00034	T	0.693931	0.30359	T	0.10272062	0.24275	0.06241503	0.12208	0.10272062	0.24274	0.06241503	0.12208	-6.655	0.51471	T	.	.	0.083	0.09143	B	.	.	-0.771593	0.01164	0.055	0.61548457451166827	0.06736	0.08101	0.14071	N	AEFBCI	0.107787	0.21463	N	-1.03118552391547	0.07962	0.3716787	-1.01041299243722	0.09555	0.4760869	0.999664706146666	0.41534	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	-0.534	0.11289	-0.658000	0.05429	-0.211000	0.10853	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.2259:0.3133:0.3324:0.1283	2.062	0.03375	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.010870	0.000000	0.000000	0.000000	0.015244	0.015152	0.05263	2469.83	34	chr4	8232023	.	A	G	2469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.238;DP=899;ExcessHet=0.119;FS=3.251;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PL	0/1:85,62:147:99:1252,0,1956	17	0	2	0
chr4	8468190	8468190	C	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon9:c.C1048T:p.P350S,TRMT44:NM_152544:exon9:c.C1771T:p.P591S	.	434	1085	3	0	0	3	0.00138058	.	.	.	3347534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.263	0.0179453887654	7.7e-05	.	0.0003	0	0	0.0017	0	0.0003	0	0.0002	0.0002523	39	154602	rs199651886	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	2.236e-05	0.0003	0.0003	0	0.0016	0.0002	8.279e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.698e-05	0.0002	0.0002	0	0	6.539e-05	0.0003	0.0004	0	0	0.0003	0	0	0.011	0.55530	D	0.009	0.66756	D	0.999	0.77913	D	0.993	0.81110	D	0.000016	0.62929	D	0.069988	0.983689	0.40046	D	3.06	0.86941	M	1.85	0.26445	T	-6.99	0.93621	D	0.693	0.69825	-0.7185	0.59536	T	0.181	0.52858	T	10	0.30244505	0.47781	T	0.017945	0.39844	T	0.263	0.57612	.	.	0.252681307341	0.24864	0.6527192436132627	0.65207	0.154658145323	0.17468	0.610169112682	0.54340	T	0.330325	0.70052	T	-0.201855	0.20537	T	-0.108279	0.62748	T	0.372395595899838	0.27890	T	0.864413	0.57326	D	0.3345531	0.55841	0.27709925	0.53660	0.3345531	0.55841	0.27709925	0.53659	-9.644	0.78856	D	.	.	0.305	0.53402	B	.;.	.;.	3.364001	0.46455	22.3	0.99865584683875575	0.94366	0.93136	0.57420	D	AEFDBI	0.175690	0.30287	N	0.425829200953343	0.62846	4.507519	0.276760956712555	0.54185	3.584321	0.999999986002514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.83	4.83	0.61880	3.354000	0.51970	4.721000	0.44505	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.101000	0.18331	0.0:1.0:0.0:0.0	16.269	0.82433	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1299.33	33	chr4	8468190	.	C	T	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=744;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.584;SOR=0.692	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1313,0,1539	18	0	1	0
chr4	9235181	9235181	C	T	exonic	USP17L15	.	nonsynonymous SNV	USP17L15:NM_001256894:exon1:c.C797T:p.T266M	.	1280	240	1	1	0	3	0.00621118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	0.0064	0	0	0	0	0	0	0.0177	3.84e-05	1	26028	rs780346290	0.0015	0.0003	0.0008	0.0020	0.0103	0.0013	0.0012	0.0088	0.0082	0	0	0	0	0	0	2.32e-05	0.0013	0.0103	0.0004	0.0004	0	0.0009	0.0133	7.805e-05	3.183e-05	0.0024	0.0010	0	0	0	0	0	0	0	0	0	0.0133	0.051	0.39334	T	0.093	0.40110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.67	0.42885	L	1.48	0.31731	T	-2.15	0.48687	N	0.153	0.15749	-0.9497	0.41023	T	0.079	0.31254	T	4	0.011419773	0.00250	T	.	.	.	0.037	0.09474	0.47	0.54376	0.156986980423	0.15292	0.012942995932063961	0.01252	.	.	0.555900752544	0.46689	T	0.016338	0.13527	T	-0.287473	0.09892	T	-0.650711	0.08904	T	0.122893969815074	0.14710	T	0.570643	0.20320	T	0.07191661	0.15958	0.20734411	0.44989	0.07191661	0.15957	0.20734411	0.44988	-8.553	0.64779	D	.	.	0.081	0.14155	B	.;.	.;.	2.003667	0.25460	16.77	0.97357381403956134	0.33554	0.01286	0.04483	N	AEFI	0.045106	0.07337	N	-0.659504473299143	0.17184	0.8820768	-0.876575729082071	0.12649	0.6519406	1.095098486459E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.082000	0.14697	.	.	0.273000	0.18552	0.932000	0.32345	0.000000	0.08366	0.070000	0.16646	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	2207.22	.	chr4	9235181	.	C	T	2207.22	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.79;DP=129;ExcessHet=0;FS=5.601;MLEAC=5;MLEAF=0.5;MQ=52.21;MQRankSum=1.88;QD=31.99;ReadPosRankSum=-1.08;SOR=2.009	GT:AD:DP:GQ:PL	1/1:1,68:69:99:2212,196,0	4	1	0	14
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	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	1989.33	33	chr4	36229221	.	G	A	1989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.638;SOR=0.715	GT:AD:DP:GQ:PL	0/1:54,66:120:99:2003,0,1586	18	0	1	0
chr4	36229459	36229459	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.G28A:p.D10N	.	441	1056	21	4	0	29	0.0135451	.	.	.	2822473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.345	0.0190945144254	0.0014	0.00219649	0.0021	0.0001	0.0007	0	0	0.0023	0.0023	0.0057	0.0018176	281	154602	rs147255071	0.0016	0.0016	0.0014	0.0018	0.0156	0.0016	0.0016	0.0130	0.0121	0.0003	0.0008	0.0020	5.046e-05	9.38e-05	0.0156	0.0014	0.0026	0.0051	0.0016	0.0016	0.0017	0.0014	0.0081	0.0014	0.0013	0.0061	0.0054	0.0002	0	0.0018	0.0014	0	0	0.0102	0.0022	0.0028	0.0081	0.01	0.61437	D	0.041	0.58089	D	0.896	0.49324	P	0.721	0.54900	P	0.046460	0.23438	N	0.439072	0.998027	0.22390	N	2.415	0.69758	M	-0.05	0.63403	T	-1.54	0.71157	N	0.177	0.19055	-0.5071	0.68392	T	0.356	0.71897	T	10	0.009949297	0.00223	T	0.019095	0.41369	T	0.345	0.66676	.	.	0.645408611234	0.64247	0.5151473116475712	0.51437	0.0827273509579	0.09334	0.630742430687	0.57251	T	0.016557	0.13660	T	-0.525967	0.00406	T	-0.527201	0.19567	T	0.0417767271637241	0.04013	T	0.864914	0.56300	D	0.12813233	0.29965	0.093509234	0.22089	0.12813233	0.29965	0.093509234	0.22089	-5.079	0.37685	T	.	.	0.086	0.16800	B	.;.	.;.	3.387903	0.46888	22.4	0.99904591426530143	0.97576	0.81189	0.40646	D	AEFBI	0.173637	0.30072	N	0.584390645449768	0.72200	5.768433	0.571800366175148	0.72925	5.888	0.999998576847307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.913000	0.48487	6.004000	0.52535	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.9259:0.0:0.0741	12.906	0.57547	726	0.54788	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif 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	0.008056	0.000000	0.006793	0.011696	0.000000	0.000000	0.021341	0.000000	0.02632	1069.33	33	chr4	36229459	.	C	T	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=699;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.207;SOR=0.473	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1083,0,849	18	0	1	0
chr4	38938495	38938495	A	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350631:exon12:c.A943T:p.T315S	.	1119	399	3	1	0	5	0.00622665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0074151	193	26028	rs150017141	0	0.0001	0	0	.	0	0	.	.	.	.	.	.	0	.	.	0	.	0.0047	0.0047	0.0044	0.0050	0.0532	0.0044	0.0043	0.0479	0.0458	0.0013	0	0.0021	0.0006	0.0023	0.0007	0.0034	0.0051	0.0024	0.0532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1808.33	38	chr4	38938495	.	A	T	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.133;DP=769;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.658;SOR=0.821	GT:AD:DP:GQ:PL	0/1:67,79:146:99:1822,0,1484	18	0	1	0
chr4	40944954	40944954	C	G	exonic	APBB2	.	nonsynonymous SNV	APBB2:NM_001330658:exon6:c.G952C:p.E318Q,APBB2:NM_001166050:exon7:c.G952C:p.E318Q,APBB2:NM_001330656:exon7:c.G952C:p.E318Q,APBB2:NM_004307:exon7:c.G955C:p.E319Q,APBB2:NM_173075:exon7:c.G952C:p.E318Q	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0326850004237	8.1e-05	.	6.624e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200056833	4.105e-05	4.104e-05	3.676e-05	4.538e-05	0.0016	3.245e-05	2.919e-05	0.0008	0.0006	0	0	0	0	0	0.0016	4.137e-05	4.968e-05	2.319e-05	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.548e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0	0	0	2.94e-05	0	0	0.304	0.14400	T	0.296	0.20680	T	0.054	0.22658	B	0.209	0.37260	B	0.000000	0.84330	D	0.046677	0.999995	0.58761	D	0.65	0.16133	N	-2.49	0.89145	D	-1.46	0.35792	N	0.306	0.35194	-0.8628	0.51061	T	0.213	0.57334	T	10	0.3269747	0.49987	T	0.032685	0.54446	D	0.398	0.71242	.	.	0.868913020322	0.86763	0.5912765784752176	0.59057	0.527592878599	0.50365	0.557782292366	0.46954	T	0.526863	0.83555	D	-0.0774137	0.40135	T	-0.145376	0.59651	T	0.0866920557141349	0.10821	T	0.918508	0.76191	D	0.19508815	0.41284	0.14081042	0.33553	0.19508815	0.41283	0.14081042	0.33552	-3.439	0.18832	T	.	.	0.101	0.26263	B	.;.;.;.	.;.;.;.	3.155742	0.42741	21.6	0.98735743696956224	0.45422	0.95868	0.66499	D	AEFBI	0.700229	0.65732	D	0.292762783841431	0.55780	3.742236	0.392860657292383	0.61124	4.30825	0.99999993299822	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	4.769000	0.61997	7.627000	0.62562	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0:0.861:0.139:0.0	16.558	0.84339	871	0.31377	WW domain|WW domain|WW domain|WW domain|WW domain;.;.;WW domain|WW domain|WW domain|WW domain|WW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1148.33	34	chr4	40944954	.	C	G	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=755;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-1.56;SOR=0.575	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1162,0,1805	18	0	1	0
chr4	41646750	41646750	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon6:c.G1024A:p.A342T,LIMCH1:NM_001330674:exon6:c.G1024A:p.A342T,LIMCH1:NM_001112719:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330793:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330982:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330983:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330786:exon9:c.G1045A:p.A349T,LIMCH1:NM_001289122:exon11:c.G1486A:p.A496T,LIMCH1:NM_001289124:exon11:c.G1009A:p.A337T,LIMCH1:NM_001330791:exon11:c.G1486A:p.A496T,LIMCH1:NM_001330792:exon11:c.G1486A:p.A496T,LIMCH1:NM_001112717:exon12:c.G1522A:p.A508T,LIMCH1:NM_001112718:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330784:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330787:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330788:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330789:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330790:exon12:c.G1522A:p.A508T,LIMCH1:NM_014988:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330672:exon17:c.G2677A:p.A893T	.	429	1071	20	2	0	24	0.0110803	.	.	.	2822505	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0047	0.00359425	0.0052	0.0015	0.0085	0	0.0032	0.0071	0.0077	0.0009	0.0051228	792	154602	rs148133956	0.0064	0.0064	0.0065	0.0063	0.0118	0.0063	0.0062	0.0095	0.0087	0.0017	0.0086	0.0155	5.038e-05	0.0039	0.0118	0.0069	0.0070	0.0015	0.0055	0.0055	0.0055	0.0054	0.0113	0.0051	0.0050	0.0099	0.0094	0.0013	0.0274	0.0113	0.0167	0	0.0046	0.0136	0.0065	0.0095	0.0008	0.499	0.15303	T	0.794	0.07292	T	0.0	0.38523	B	0.003	0.39840	B	0.129721	0.18685	N	0.553556	1	0.08975	N	0.805	0.20218	L	0.91	0.45248	T	-0.66	0.21860	N	0.168	0.21319	-1.0292	0.20713	T	0.050	0.21261	T	10	0.00248155	0.00037	T	.	.	.	0.041	0.10877	.	.	0.213499824651	0.20940	0.1727013451243501	0.17190	0.149234037661	0.16829	0.340407550335	0.16499	T	0.001202	0.11307	T	-0.562297	0.00246	T	-0.574787	0.15013	T	0.0019816088015616	0.00020	T	0.842016	0.51794	T	0.028271142	0.02139	0.038525514	0.03741	0.028271142	0.02139	0.038525514	0.03741	-2.814	0.12517	T	.	.	0.064	0.03093	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.131951	0.05276	1.772	0.96805671925739467	0.31169	0.50027	0.28568	D	AEFGBI	0.154834	0.27993	N	-1.09279464495782	0.06775	0.3128561	-1.03543021211502	0.09012	0.4460902	0.999909578755879	0.45458	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.46	0.805	0.17845	0.577000	0.23461	0.397000	0.17956	-0.163000	0.11536	0.123000	0.23227	0.005000	0.19230	0.904000	0.43992	0.3205:0.0:0.573:0.1065	7.173	0.24905	724	0.55085	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012588	0.015152	0.012228	0.005848	0.050000	0.008621	0.015244	0.003788	0.02632	1915.33	33	chr4	41646750	.	G	A	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.39;DP=850;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.048;SOR=0.905	GT:AD:DP:GQ:PL	0/1:104,81:185:99:1929,0,2953	18	0	1	0
chr4	52003360	52003360	C	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon3:c.G529A:p.D177N	.	436	1072	12	2	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0034	0.00419329	0.0027	0.0032	0.0012	0	0	0.0025	0.0033	0.0064	0.0025485	394	154602	rs201458130	0.0027	0.0027	0.0026	0.0028	0.0094	0.0026	0.0026	0.0074	0.0067	0.0035	0.0011	0.0032	2.522e-05	0.0003	0.0094	0.0027	0.0032	0.0052	0.0027	0.0027	0.0027	0.0026	0.0056	0.0025	0.0024	0.0040	0.0034	0.0039	0	0.0011	0.0037	0	0.0002	0.0136	0.0027	0.0009	0.0056	0.041	0.41915	D	0.022	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.000122	0.49741	D	0.000000	0.515536	0.31612	N	0.57	0.15267	N	0.61	0.53516	T	-2.68	0.57275	D	0.545	0.57177	-0.5899	0.65225	T	0.220	0.58345	T	10	0.019667894	0.00442	T	.	.	.	0.241	0.54641	.	.	0.511390160789	0.50780	0.3034997321396087	0.30262	0.0326264065788	0.03409	0.430598884821	0.29290	T	0.04279	0.26296	T	-0.495597	0.00605	T	-0.482471	0.24184	T	0.0366639722523778	0.03096	T	0.664534	0.27348	T	0.13604422	0.31553	0.15992995	0.37274	0.13604422	0.31552	0.15992995	0.37273	-8.003	0.61091	D	.	.	0.329	0.55166	B	.	.	3.252113	0.44434	21.9	0.9987332423539661	0.95076	0.76175	0.37340	D	AEFI	0.186406	0.31372	N	0.530398310839928	0.68895	5.280777	0.518648303543165	0.69245	5.333094	0.133193826056292	0.17131	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	1.792000	0.38387	2.705000	0.34191	-0.823000	0.02940	1.000000	0.71638	1.000000	0.68203	0.444000	0.27761	0.0:0.8307:0.1693:0.0	12.342	0.54424	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.014946	0.020468	0.000000	0.017241	0.003049	0.015152	0.02632	638.33	35	chr4	52003360	.	C	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=2.05;SOR=0.571	GT:AD:DP:GQ:PL	0/1:45,25:70:99:652,0,1182	18	0	1	0
chr4	52069832	52069832	C	T	exonic	SPATA18	.	nonsynonymous SNV	SPATA18:NM_145263:exon5:c.C434T:p.T145I	.	435	1076	9	2	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0042	0.00658946	0.0031	0.0082	0.0012	0	0	0.0024	0.0025	0.0074	0.0028913	447	154602	rs75140760	0.0027	0.0027	0.0027	0.0026	0.0094	0.0026	0.0026	0.0073	0.0066	0.0061	0.0011	0.0031	0	9.766e-05	0.0094	0.0026	0.0033	0.0050	0.0034	0.0034	0.0037	0.0032	0.0072	0.0032	0.0031	0.0065	0.0062	0.0072	0	0.0010	0.0038	0	0	0.0102	0.0024	0.0009	0.0050	0.007	0.59928	D	0.038	0.51421	D	0.763	0.43659	P	0.242	0.38699	B	0.039883	0.24120	N	0.485962	1	0.25126	N	2.75	0.80375	M	-2.29	0.87591	D	-3.41	0.67129	D	0.34	0.38129	-0.2051	0.77538	T	0.482	0.80200	T	10	0.0053586364	0.00118	T	.	.	.	0.276	0.59253	.	.	0.381916209588	0.37799	0.3734625913842404	0.37260	0.646300312645	0.58046	0.461537182331	0.33521	T	0.226349	0.59134	T	-0.280991	0.10563	T	-0.172256	0.57237	T	0.0325421131757819	0.02395	T	0.687331	0.29630	T	0.18186599	0.39378	0.21714179	0.46368	0.18186599	0.39377	0.21714179	0.46367	-5.648	0.43228	T	.	.	0.287	0.51942	B	.	.	2.860642	0.37796	20.6	0.99796162229774243	0.88106	0.48581	0.28239	N	AEFDI	0.058921	0.11091	N	0.180611444123017	0.50270	3.218527	0.193470663059481	0.49488	3.151401	0.0719091283349751	0.15583	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.67	4.81	0.61401	2.457000	0.44662	1.241000	0.25107	0.549000	0.26987	0.995000	0.38783	0.949000	0.28973	0.988000	0.63387	0.0:0.8263:0.1737:0.0	12.612	0.55913	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011593	0.005051	0.014946	0.023529	0.000000	0.017241	0.000000	0.011364	0.02632	649.33	34	chr4	52069832	.	C	T	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=674;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.496;SOR=0.926	GT:AD:DP:GQ:PL	0/1:27,30:57:99:663,0,580	18	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	202.35	101	chr4	53145477	.	T	C	202.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.909;DP=1495;ExcessHet=1.3;FS=119.723;InbreedingCoeff=-0.1484;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.495;SOR=10.505	GT:AD:DP:GQ:PL	0/1:98,26:124:11:11,0,2031	14	0	5	0
chr4	56459374	56459374	C	A	exonic	PAICS	.	nonsynonymous SNV	PAICS:NM_001079524:exon9:c.C1114A:p.L372I,PAICS:NM_001079525:exon10:c.C1135A:p.L379I,PAICS:NM_006452:exon10:c.C1114A:p.L372I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00812267627647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.16144	T	0.342	0.36630	T	0.149	0.27956	B	0.173	0.35463	B	0.000319	0.45977	N	0.194207	0.999987	0.54805	D	0.24	0.09707	N	1.15	0.38397	T	-1.16	0.29727	N	0.242	0.27316	-1.0896	0.05599	T	0.062	0.25923	T	10	0.2710024	0.44636	T	0.008123	0.21521	T	0.038	0.09825	0.381	0.39807	0.371903410333	0.36803	0.6813436332224885	0.68073	0.0979560040444	0.11053	0.564768135548	0.47939	T	0.072186	0.34391	T	-0.190324	0.22210	T	-0.511163	0.21197	T	0.370946884155273	0.27834	T	0.814918	0.47426	T	0.22497948	0.45150	0.14302678	0.34005	0.22497948	0.45150	0.14302678	0.34004	-10.523	0.76979	D	.	.	0.122	0.32079	B	.;.;.;.;.	.;.;.;.;.	2.798282	0.36800	20.3	0.97868107383087954	0.36513	0.94795	0.62355	D	AEFBI	0.752297	0.69284	D	-0.29134203331751	0.29481	1.635286	-0.151255480790568	0.33362	1.907467	0.744556489365873	0.23264	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	2.22	0.27116	3.614000	0.53901	0.392000	0.17901	0.549000	0.26987	1.000000	0.71638	0.992000	0.31684	0.998000	0.85391	0.1347:0.5904:0.2749:0.0	10.987	0.46741	500	0.76024	Class II PurE|PurE domain|PurE domain|PurE domain;Class II PurE|PurE domain|PurE domain|PurE domain;Class II PurE|PurE domain|PurE domain;.;Class II PurE|PurE domain|PurE domain|PurE 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	843.33	34	chr4	56459374	.	C	A	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.742;DP=715;ExcessHet=0;FS=5.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.612;SOR=1.362	GT:AD:DP:GQ:PL	0/1:38,30:68:99:857,0,990	18	0	1	0
chr4	57031325	57031325	C	T	exonic	IGFBP7	.	nonsynonymous SNV	IGFBP7:NM_001553:exon5:c.G841A:p.E281K	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Autosomal recessive	27	1490	5	0	0	5	0.00167504	.	.	.	2377295	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0119254463144	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0022	0.0005	0.0002587	40	154602	rs140470135	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0005	0.0001	2.238e-05	0.0031	2.527e-05	5.926e-05	0.0012	0.0001	0.0004	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	9.826e-05	8.328e-05	0.0002	9.078e-05	2.439e-05	0	6.597e-05	0.0026	0.0002	0	0	8.842e-05	0.0005	0.0006	0.014	0.53172	D	0.035	0.52389	D	0.0	0.02946	B	0.0	0.01387	B	0.656648	0.05955	N	1.178200	0.999998	0.08975	N	1.24	0.30952	L	0.34	0.58176	T	-1.35	0.33598	N	0.125	0.11769	-0.9644	0.38330	T	0.129	0.43848	T	10	0.00950107	0.00214	T	0.011925	0.30017	T	0.114	0.32008	.	.	0.578164481777	0.57486	0.4194656546682306	0.41862	0.483005150796	0.47259	0.38373285532	0.22784	T	0.013937	0.11958	T	-0.371985	0.03494	T	-0.448164	0.27900	T	0.0397978150391886	0.03654	T	0.665033	0.27384	T	0.076848134	0.17406	0.073461264	0.15966	0.076848134	0.17406	0.073461264	0.15966	-5.662	0.43354	T	.	.	0.088	0.11845	B	.	.	2.774255	0.36426	20.2	0.99026383349231306	0.50699	0.66149	0.32978	D	AEFBI	0.454698	0.50729	N	-0.509250936801645	0.21781	1.158381	-0.453116283430464	0.23461	1.279529	0.990404890674167	0.32142	0.67177	0.52595	0	0.54472	0.11627	0	0.446627	0.06593	0	0.711	0.71501	0	.	.	5.89	1.07	0.19399	1.202000	0.31878	1.183000	0.24710	0.549000	0.26987	0.981000	0.35396	0.833000	0.27230	0.918000	0.45347	0.0:0.5203:0.2674:0.2124	5.915	0.18289	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr4	57031325	.	C	T	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=722;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.39;SOR=0.836	GT:AD:DP:GQ:PL	0/1:39,37:76:99:944,0,861	18	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.05263	2784.83	48	chr4	68945392	.	A	C	2784.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.185;DP=836;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.725;SOR=0.671	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1343,0,1276	17	0	2	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001603	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.003788	0.05263	6788.83	34	chr4	69018306	.	T	G	6788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.668;DP=1261;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.2;MQRankSum=-0.399;QD=11.26;ReadPosRankSum=-1.122;SOR=0.701	GT:AD:DP:GQ:PL	0/1:166,147:313:99:3565,0,4019	17	0	2	0
chr4	69639105	69639105	G	C	exonic	UGT2A1;UGT2A2	.	nonsynonymous SNV	UGT2A2:NM_001105677:exon1:c.C536G:p.T179R,UGT2A2:NM_001301233:exon1:c.C536G:p.T179R,UGT2A1:NM_001252274:exon3:c.C1139G:p.T380R	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0202170207253	0.0005	0.000599042	0.0007	0.0001	0.0014	0	0	0.0009	0.0023	0.0001	0.0006533	101	154602	rs149059274	0.0007	0.0007	0.0007	0.0007	0.0085	0.0006	0.0006	0.0066	0.0059	0.0004	0.0014	0.0031	0	0.0002	0.0085	0.0006	0.0015	0.0003	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0009	0.0020	0	0.0005	0.0068	0.0007	0.0014	0.0008	0.015	0.52492	D	0.341	0.23638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.61798	T	-3.35	0.66436	D	0.715	0.71765	-0.3573	0.73342	T	0.376	0.73393	T	8	0.0639776	0.08416	T	0.020217	0.42769	T	0.416	0.72631	.	.	0.54626238531	0.54282	0.37350057189729025	0.50270	.	.	0.516141593456	0.41083	T	.	.	.	-0.0503236	0.44398	T	0.119559	0.78205	D	0.0580219084407165	0.06854	T	0.879912	0.61778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.87281	P	.;.;.	.;.;.	3.109985	0.41948	21.4	0.9912494002894835	0.53089	0.46340	0.27738	N	AEFI	0.325038	0.42674	N	0.228778732882571	0.52598	3.432976	0.148912674275824	0.47084	2.944039	0.282617954173962	0.19003	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.98	5.98	0.97147	0.509000	0.22414	.	.	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	17.946	0.88957	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.016304	0.011696	0.000000	0.008621	0.006098	0.003788	0.02632	2806.33	38	chr4	69639105	.	G	C	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.22;SOR=0.672	GT:AD:DP:GQ:PL	0/1:123,117:240:99:2820,0,3192	18	0	1	0
chr4	76181100	76181100	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon3:c.G277A:p.E93K	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	4	1511	7	0	0	7	0.00231099	0.9926	0.884	.	201796	Inborn_genetic_diseases|not_specified|not_provided|Progressive_myoclonic_epilepsy|Action_myoclonus-renal_failure_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.0995220360373	0.0003	.	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001358	21	154602	rs145870223	0.0002	0.0002	0.0002	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	6.714e-05	3.831e-05	0	0	0.0038	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.407e-05	0	6.541e-05	0	0	0	0	0.0003	0	0.0002	0.008	0.58626	D	0.019	0.59159	D	0.985	0.61118	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.04	0.55661	M	-1.19	0.78427	T	-2.98	0.62008	D	0.93	0.93487	0.287	0.87346	D	0.654	0.87954	D	10	0.8009062	0.79494	D	0.099522	0.77121	D	0.778	0.92583	.	.	0.897776043887	0.89676	0.9027316031166935	0.90245	0.714765047335	0.61905	0.567961812019	0.48390	T	0.631446	0.88583	D	0.150745	0.69338	D	0.274951	0.86849	D	0.390520513057709	0.28584	T	0.961404	0.86967	D	0.8761176	0.89350	0.646753	0.79344	0.8216124	0.85330	0.6862685	0.81552	-10.837	0.78756	D	0.6198474372660747	0.68811	0.633	0.75352	P	.;.;.;.	.;.;.;.	5.448920	0.91027	32	0.99928526407763019	0.99222	0.98191	0.80395	D	AEFBI	0.901414	0.84808	D	0.830579277777876	0.87975	9.408302	0.793851788982081	0.89363	9.943953	0.999999999548898	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	6.612000	0.74059	5.787000	0.49843	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.0:1.0:0.0:0.0	19.040	0.92976	892	0.26670	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1060.33	33	chr4	76181100	.	C	T	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.703;DP=681;ExcessHet=0;FS=5.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.17;SOR=0.28	GT:AD:DP:GQ:PL	0/1:26,44:70:99:1074,0,703	18	0	1	0
chr4	78267349	78267349	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon9:c.G898A:p.G300S,FRAS1:NM_025074:exon9:c.G898A:p.G300S	Fraser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0463220368343	.	.	5.085e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs747060409	1.984e-05	1.984e-05	8.169e-06	3.163e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.02538	T	0.864	0.03371	T	.	.	.	.	.	.	0.103607	0.19739	N	0.528290	0.999985	0.18198	N	0.14	0.08730	N	-0.5	0.70480	T	-2.01	0.46337	N	0.231	0.25989	-0.8564	0.51520	T	0.242	0.61012	T	10	0.057405442	0.06588	T	0.046322	0.62405	D	0.091	0.26358	0.455	0.51938	0.438701194649	0.43488	0.5557241053668117	0.55499	.	.	0.249310195446	0.03695	T	.	.	.	-0.280219	0.10644	T	-0.334315	0.40987	T	0.0271664223428844	0.01567	T	0.614838	0.23473	T	.	.	.	.	.	.	.	.	-1.198	0.01248	T	.	.	0.079	0.07224	B	.;.	.;.	0.552704	0.09211	5.995	0.41146183002417147	0.02949	0.12543	0.17333	N	AEFGBCI	0.076381	0.15363	N	-0.780449910730671	0.13820	0.6836388	-0.782826218588303	0.14915	0.7818815	0.511763157111191	0.21024	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.19	2.42	0.28720	0.466000	0.21731	0.709000	0.20918	-0.135000	0.12811	0.088000	0.22533	0.000000	0.08366	0.011000	0.09372	0.2412:0.1525:0.6063:0.0	6.392	0.20792	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1349.33	41	chr4	78267349	.	G	A	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=802;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.281;SOR=0.745	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1363,0,2032	18	0	1	0
chr4	78540982	78540982	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.T11897G:p.V3966G	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00565468107924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	0.873496	0.08808	N	0.942260	0.979154	0.25201	N	.	.	.	.	.	.	.	.	.	0.273	0.30914	-1.0515	0.13981	T	0.093	0.35417	T	10	0.09369245	0.16600	T	0.005655	0.14621	T	.	.	.	.	0.243972157842	0.24002	0.13425214868762178	0.13349	.	.	0.287427037954	0.08548	T	.	.	.	-0.0845001	0.38979	T	-0.359155	0.38151	T	0.084638301861494	0.10570	T	0.49705	0.15447	T	.	.	.	.	.	.	.	.	-3.322	0.14022	T	.	.	0.075	0.05447	B	.	.	1.446433	0.18669	13.86	0.97001394613674374	0.31945	0.71835	0.35186	D	AEFBI	0.362897	0.45198	N	-0.573876789621877	0.19742	1.035562	-0.522718643303004	0.21537	1.165547	0.999944856198836	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	3.72	0.41857	1.291000	0.32936	1.550000	0.27287	0.609000	0.47794	0.612000	0.27847	0.970000	0.29701	0.008000	0.08271	0.0:0.1433:0.0:0.8567	9.454	0.37907	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	32.75	44	chr4	78540982	.	T	G	32.75	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.939;DP=840;ExcessHet=0;FS=62.547;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=-1.421;SOR=4.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,9:57:46:0|1:78540982_T_G:46,0,1648:78540982	17	0	1	1
chr4	78540986	78540986	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.T11901G:p.N3967K	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00574917947708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	0.162967	0.17605	N	0.611706	0.993636	0.42003	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	-0.8382	0.52766	T	0.222	0.58498	T	10	0.31690806	0.49106	T	0.005749	0.14922	T	.	.	.	.	0.622959606287	0.61989	0.05426473376059712	0.05368	.	.	0.292497456074	0.09287	T	.	.	.	-0.235618	0.15914	T	-0.576225	0.14883	T	0.123430367098105	0.14762	T	0.727127	0.34152	T	.	.	.	.	.	.	.	.	-3.211	0.12615	T	.	.	0.111	0.21653	B	.	.	1.217266	0.16105	12.32	0.96668065888486154	0.30654	0.89376	0.49803	D	AEFBI	0.438181	0.49768	N	-0.300370217947696	0.29133	1.613005	-0.317745971833243	0.27525	1.527982	0.997851313139015	0.36112	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	2.37	0.28337	2.149000	0.41869	1.103000	0.24087	-1.087000	0.01546	0.997000	0.40164	0.709000	0.26280	0.015000	0.10482	0.0:0.6594:0.0:0.3406	9.469	0.37993	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	44.28	45	chr4	78540986	.	T	G	44.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.808;DP=830;ExcessHet=0;FS=74.423;InbreedingCoeff=-0.064;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=-2.074;SOR=4.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:57:0|1:78540982_T_G:57,0,1678:78540982	16	0	1	2
chr4	82451233	82451233	G	A	exonic	ENOPH1	.	nonsynonymous SNV	ENOPH1:NM_001292017:exon3:c.G113A:p.R38H,ENOPH1:NM_021204:exon3:c.G377A:p.R126H	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0041091910717	0.0007	0.000798722	0.0004	0.0003	0.0006	0	0	0.0005	0	0.0003	0.0003946	61	154602	rs148501831	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	5.974e-05	0.0006	0	0	0	0.0007	0.0006	0.0006	0.0003	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0006	0	0	0	0.0034	0.0008	0.0005	0.0002	0.113	0.31682	T	0.114	0.38891	T	0.001	0.07471	B	0.0	0.01387	B	0.956542	0.07690	N	1.017770	1	0.08975	N	0.6	0.15550	N	3.44	0.05375	T	-1.41	0.34795	N	0.113	0.12770	-0.9466	0.41549	T	0.013	0.04843	T	10	0.010164559	0.00227	T	0.004109	0.09838	T	0.030	0.07022	.	.	0.245101548738	0.24120	0.3841751892615236	0.38332	0.862312818367	0.69017	0.201750591397	0.00509	T	0.057014	0.30448	T	-0.635304	0.00089	T	-0.776896	0.02548	T	0.00606011518313115	0.00067	T	0.246475	0.06100	T	0.033820484	0.03677	0.03427467	0.02464	0.033820484	0.03677	0.03427467	0.02464	-6.501	0.50294	T	.	.	0.083	0.09868	B	.;.;.	.;.;.	0.191459	0.05775	2.218	0.86277605973799754	0.16429	0.08247	0.14201	N	AEFDBHCIJ	0.092026	0.18634	N	-1.35098013078062	0.03115	0.1386168	-1.46652801077651	0.02624	0.1210018	0.999999999825596	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	-8.38	0.00851	-1.621000	0.02147	-1.283000	0.05821	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.643000	0.32503	0.4859:0.0719:0.2241:0.218	3.635	0.07686	916	0.20744	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	861.33	42	chr4	82451233	.	G	A	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.731;DP=693;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.174;SOR=1.032	GT:AD:DP:GQ:PL	0/1:24,32:56:99:875,0,553	18	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	90.12	65	chr4	83463512	.	C	T	90.12	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.418;DP=847;ExcessHet=0.3672;FS=158.539;InbreedingCoeff=-0.1287;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.423;SOR=7.978	GT:AD:DP:GQ:PL	0/1:27,15:42:50:50,0,447	13	0	3	3
chr4	87164028	87164028	C	T	exonic	KLHL8	.	nonsynonymous SNV	KLHL8:NM_001292007:exon8:c.G1040A:p.R347Q,KLHL8:NM_001292003:exon9:c.G1589A:p.R530Q,KLHL8:NM_001292006:exon9:c.G1361A:p.R454Q,KLHL8:NM_020803:exon9:c.G1589A:p.R530Q	.	429	1092	0	1	0	2	0.000914913	.	.	.	2430701	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0772769498616	.	.	0.0003	0	8.637e-05	0	0.0006	0.0002	0.0011	0.0013	0.000304	47	154602	rs201502223	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	8.961e-05	4.472e-05	0	2.519e-05	0.0003	0.0005	9.892e-05	0.0001	0.0016	9.855e-05	9.845e-05	6.428e-05	0.0001	0.0004	6.006e-05	4.879e-05	7.304e-05	3.034e-05	7.225e-05	0	0	0	0	0.0007	0	4.412e-05	0	0.0004	0.232	0.21224	T	0.603	0.09175	T	0.863	0.47474	P	0.095	0.32014	B	0.000028	0.55875	D	0.119501	0.999995	0.58761	D	1.285	0.32305	L	-1.2	0.78537	T	-0.67	0.19297	N	0.497	0.53006	-0.5539	0.66638	T	0.294	0.66545	T	10	0.072585136	0.10855	T	0.077277	0.72733	D	0.352	0.67326	.	.	0.793350107706	0.79143	0.40253223985076825	0.40169	0.515052659661	0.49424	0.611527562141	0.54532	T	0.209335	0.56952	T	-0.332324	0.05938	T	-0.274764	0.47338	T	0.0187876783311367	0.00590	T	0.952605	0.87759	D	0.14147194	0.32596	0.09270711	0.21862	0.14147194	0.32596	0.09270711	0.21861	-3.305	0.13802	T	.	.	0.081	0.11414	B	.;.;.;.	.;.;.;.	3.808670	0.54920	23.5	0.99812371128901289	0.89620	0.94658	0.61888	D	AEFBI	0.591299	0.58745	D	0.115316648482886	0.47176	2.94711	0.18456188463744	0.49000	3.108714	0.999790708581095	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.71	4.87	0.62877	4.792000	0.62161	4.866000	0.45518	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.9297:0.0:0.0702	14.613	0.68129	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1498.33	44	chr4	87164028	.	C	T	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=774;ExcessHet=0;FS=7.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.863;SOR=0.271	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1512,0,1339	18	0	1	0
chr4	87612896	87612896	C	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C710T:p.A237V	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	1520	2	0	0	2	0.000657462	.	.	.	2871893	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0601162620511	.	.	2.486e-05	0	0	0	0	2.999e-05	0	6.061e-05	1.94e-05	3	154602	rs758321752	6.157e-06	6.156e-06	2.722e-06	9.626e-06	4.472e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	6.546e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.546e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.084	0.41239	T	0.123	0.26785	B	0.057	0.26280	B	.	.	.	.	0.999991	0.08975	N	0.625	0.15840	N	-2.87	0.91478	D	-0.76	0.21215	N	0.07	0.04307	-0.4338	0.70939	T	0.521	0.82096	D	9	0.04656753	0.03863	T	0.060116	0.67892	D	0.125	0.34456	0.342	0.33464	0.397540356873	0.39371	0.01373214506198384	0.01331	.	.	.	.	.	0.087487	0.37954	T	-0.201237	0.20626	T	-0.429985	0.29937	T	0.0253794046955893	0.01323	T	0.486851	0.14885	T	0.110564835	0.26133	0.0805982	0.18244	0.110564835	0.26133	0.0805982	0.18244	-3.5	0.16431	T	.	.	.	.	.	.	.	0.009935	0.04351	1.113	0.69447681625344881	0.08975	0.01806	0.05631	N	AEFBI	0.041873	0.06423	N	-1.16767832870061	0.05495	0.2506582	-1.22192760002339	0.05559	0.2652065	1.17454685083053E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	0.307	0.15057	-0.146000	0.10233	-0.516000	0.08717	-0.902000	0.02317	0.003000	0.16062	0.000000	0.08366	0.692000	0.33898	0.3766:0.2948:0.1292:0.1994	0.879	0.01152	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1707.33	41	chr4	87612896	.	C	T	1707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.617;DP=1388;ExcessHet=0;FS=4.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.768;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,49:137:99:0|1:87612896_C_T:1721,0,3431:87612896	18	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:14:99:0|1:87615730_ATAG_A:1310,303,241:87615730	5	3	10	1
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	1|1:0,8:14:62:1|1:87615730_ATAG_A:1069,62,0:87615730	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:14:99:0|1:87615730_ATAG_A:1296,292,264:87615730	5	3	10	1
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	1|1:0,8:14:28:1|1:87615730_ATAG_A:1032,28,0:87615730	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	1|1:0,8:14:28:1|1:87615730_ATAG_A:1032,28,0:87615730	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	0/1:14,6:20:99:.:.:264,0,561:.	2	2	9	6
chr4	88074922	88074922	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2633C:p.R878T	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.193772046792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.041	0.50514	D	0.958	0.54977	D	0.477	0.46994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	-0.71	0.94210	T	-3.28	0.75456	D	0.634	0.71143	0.635	0.92355	D	0.764	0.91977	D	10	0.634155	0.68686	D	0.193772	0.86323	D	0.664	0.87479	0.397	0.42426	0.801497669902	0.79964	0.5172733941162925	0.51650	0.629044018117	0.56961	0.750374495983	0.74502	T	0.671874	0.90270	D	0.256558	0.79210	D	0.130752	0.78941	D	0.945891737937927	0.62357	D	0.887111	0.61778	D	0.7248052	0.79430	0.35795867	0.61281	0.7248052	0.79432	0.35795867	0.61280	-9.61	0.71542	D	0.5364749130101842	0.60667	0.794	0.77002	P	.;.;.	.;.;.	4.563145	0.71921	25.7	0.9842603256989868	0.41343	0.97873	0.77771	D	AEFBI	0.689637	0.65023	D	0.533677920757637	0.69094	5.308532	0.547393928302615	0.71217	5.621106	0.999999996677224	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	4.769000	0.61997	6.234000	0.55243	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0789:0.0:0.9211:0.0	12.750	0.56677	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	662.54	152	chr4	88074922	.	G	C	662.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.875;DP=1096;ExcessHet=0.119;FS=72.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=1.33;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,22:121:99:0|1:88074922_G_C:258,0,3783:88074922	17	0	2	0
chr4	88074923	88074923	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2634C:p.R878S	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.117150427752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.919	0.50927	P	0.324	0.41853	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.795	0.47270	L	-0.71	0.94260	T	-3.31	0.75776	D	0.572	0.72031	0.182	0.85604	D	0.695	0.89499	D	10	0.42900562	0.57366	T	0.11715	0.79684	D	0.580	0.83081	0.368	0.37687	0.909963269897	0.90906	0.5166367591930537	0.51586	0.497480275096	0.48245	0.722716212273	0.70442	T	0.675153	0.90401	D	0.25385	0.78959	D	0.126861	0.78686	D	0.970878064632416	0.69109	D	0.938806	0.77472	D	0.896837	0.91102	0.6834038	0.81389	0.896837	0.91103	0.6834038	0.81390	-8.895	0.67018	D	0.6920299610958898	0.76989	0.908	0.83281	P	.;.;.	.;.;.	3.508895	0.49129	22.7	0.99398677795618395	0.62702	0.90280	0.51331	D	AEFBI	0.459311	0.50997	N	0.113047022420986	0.47071	2.937997	0.0907906910271631	0.44084	2.697048	0.993910564295063	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.32	0.27895	0.055000	0.14112	-0.757000	0.07552	0.674000	0.70861	0.961000	0.33663	0.000000	0.08366	0.996000	0.76049	0.4372:0.0:0.5628:0.0	8.137	0.30223	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	669.77	152	chr4	88074923	.	G	C	669.77	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.65;DP=1418;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.1518;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=1.23;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,22:123:99:0|1:88074922_G_C:252,0,3815:88074922	12	0	3	4
chr4	88074924	88074924	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2635C:p.E879Q	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.112397220531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.473e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.019	0.59159	D	0.791	0.44643	P	0.272	0.39956	B	0.000009	0.62929	D	0.108957	0.999999	0.58761	D	0.97	0.24054	L	-0.38	0.92721	T	-1.72	0.50337	N	0.297	0.33578	0.520	0.90832	D	0.688	0.89209	D	10	0.3064313	0.48153	T	0.112397	0.79053	D	0.445	0.74727	0.236	0.16608	0.809187118209	0.80740	0.2323479368635527	0.23149	0.441181269079	0.44114	0.624371409416	0.56347	T	0.458108	0.79621	T	0.0415826	0.57252	T	-0.178046	0.56702	T	0.874872863292694	0.52474	D	0.941106	0.80823	D	0.5887539	0.72083	0.31472978	0.57463	0.5887539	0.72084	0.31472978	0.57462	-7.72	0.59147	D	0.4693575316286415	0.55010	0.334	0.55466	B	.;.;.	.;.;.	6.160708	0.94696	34	0.99806513379381534	0.89085	0.99479	0.96535	D	AEFBI	0.914687	0.87842	D	0.526904719780556	0.68688	5.251508	0.595493025066105	0.74617	6.167515	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	11.277000	0.91602	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	664.87	152	chr4	88074924	.	G	C	664.87	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.468;DP=1554;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.0876;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.74;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,22:123:99:0|1:88074922_G_C:252,0,3815:88074922	16	0	3	0
chr4	88074926	88074926	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2637C:p.E879D	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0132159678033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.11696	T	0.506	0.15988	T	0.001	0.07471	B	0.002	0.06944	B	0.000009	0.62929	D	0.108957	0.994276	0.42222	D	-0.175	0.04276	N	-0.12	0.91748	T	-0.39	0.23372	N	0.175	0.18784	-0.6676	0.61937	T	0.446	0.78240	T	10	0.06906125	0.09857	T	0.013216	0.32452	T	0.238	0.54217	0.264	0.20946	0.543338240752	0.53986	0.0943286253012517	0.09364	0.136679722396	0.15416	0.641091346741	0.58718	T	0.217668	0.58017	T	-0.0922547	0.37703	T	-0.370294	0.36854	T	0.343256384134293	0.26753	T	0.837116	0.53152	T	0.21597725	0.44044	0.06672414	0.13707	0.21597725	0.44044	0.06672414	0.13707	-3.285	0.13545	T	0.07235216256458038	0.02959	0.097	0.15832	B	.;.;.	.;.;.	1.362800	0.17722	13.33	0.97928484891759715	0.36935	0.81502	0.40892	D	AEFBI	0.180401	0.30771	N	-0.499784004579977	0.22087	1.176955	-0.347792612377083	0.26577	1.468931	0.98905284296543	0.31709	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	0.784	0.17723	0.433000	0.21196	0.778000	0.21455	0.674000	0.70861	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.3295:0.1252:0.4019:0.1434	1.682	0.02663	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	681.82	148	chr4	88074926	.	G	C	681.82	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.303;DP=1459;ExcessHet=0.3672;FS=149.221;InbreedingCoeff=-0.0864;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.09;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,22:123:99:0|1:88074922_G_C:252,0,3815:88074922	16	0	3	0
chr4	88074927	88074927	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2638C:p.V880L	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.186659707726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.297	0.20551	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	-0.18	0.91363	T	-1.05	0.31170	N	0.569	0.64903	0.598	0.91874	D	0.793	0.92976	D	10	0.531262	0.63196	D	0.18666	0.85889	D	0.495	0.78036	0.262	0.20631	0.749126465336	0.74686	0.3240488697657572	0.32317	0.182851890055	0.20557	0.781355142593	0.79132	T	0.241685	0.61027	T	0.210705	0.74897	D	0.064886	0.74569	D	0.883527338504791	0.53370	D	0.874113	0.58433	D	0.4644023	0.64945	0.31679553	0.57658	0.4644023	0.64946	0.31679553	0.57657	-6.43	0.49744	T	0.4873731798686394	0.56489	0.616	0.69546	P	.;.;.	.;.;.	4.222023	0.63864	24.6	0.99771217554887515	0.85918	0.99479	0.96535	D	AEFBI	0.920682	0.89303	D	0.741181393272166	0.82329	7.735918	0.739806151862471	0.85392	8.567346	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	8.008000	0.76178	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	690.46	116	chr4	88074927	.	G	C	690.46	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.365;DP=1500;ExcessHet=0.3672;FS=265.844;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.18;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,22:111:99:.:.:275,0,3634:.	9	0	3	7
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	0/1:90,42:132:99:205,0,1485	2	0	16	1
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	0/1:114,30:144:23:23,0,2336	5	0	12	2
chr4	107908640	107908640	T	G	exonic	SGMS2	.	nonsynonymous SNV	SGMS2:NM_001136257:exon5:c.T803G:p.V268G,SGMS2:NM_001375911:exon5:c.T284G:p.V95G,SGMS2:NM_152621:exon5:c.T803G:p.V268G,SGMS2:NM_001136258:exon6:c.T803G:p.V268G,SGMS2:NM_001375905:exon6:c.T803G:p.V268G,SGMS2:NM_001375907:exon6:c.T803G:p.V268G,SGMS2:NM_001375908:exon6:c.T803G:p.V268G,SGMS2:NM_001375906:exon7:c.T803G:p.V268G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.094327977341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.993	0.65571	D	0.871	0.61869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.87	0.76948	T	-3.71	0.70674	D	0.605	0.62273	-0.0127	0.81992	T	0.494	0.80825	T	10	0.83113337	0.82276	D	0.094328	0.76233	D	0.637	0.86130	0.621	0.75576	0.857650482772	0.85627	0.8900116153167285	0.88971	1.28053249883	0.82507	0.6249319911	0.56426	T	0.628608	0.88460	D	0.385461	0.89057	D	0.315912	0.88920	D	0.996290564537048	0.89052	D	0.89971	0.64861	D	0.72410876	0.79391	0.7692414	0.86374	0.72410876	0.79393	0.7692414	0.86374	-9.176	0.68823	D	0.496112216037497	0.57211	0.312	0.61822	B	.;.;.;.	.;.;.;.	4.403930	0.68072	25.2	0.99730579587812529	0.82761	0.92781	0.56530	D	AEFDBHCI	0.953260	0.96940	D	0.626584645039792	0.74862	6.205214	0.640698850670239	0.77921	6.77312	0.999996162036779	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.590023	0.30420	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	7.608000	0.82114	5.019000	0.46730	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.468	0.75146	915	0.20917	Sphingomyelin synthase-like domain;Sphingomyelin synthase-like domain;Sphingomyelin synthase-like domain;Sphingomyelin synthase-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	53.36	61	chr4	107908640	.	T	G	53.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.611;DP=843;ExcessHet=0;FS=103.359;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=-0.046;SOR=5.416	GT:AD:DP:GQ:PL	0/1:63,14:77:67:67,0,1390	18	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/1:47,24:71:95:95,0,719	9	0	6	4
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|1:52,49:101:99:0|1:140563137_C_G:846,0,1276:140563137	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|1:52,49:101:99:0|1:140563137_C_G:846,0,1276:140563137	1	0	18	0
chr4	140911162	140911162	C	T	exonic	RNF150	.	nonsynonymous SNV	RNF150:NM_020724:exon6:c.G1180A:p.V394I	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0049	0.00738818	0.0026	0.0161	0.0046	0.0005	0	0.0014	0.0011	6.102e-05	0.0026261	406	154602	rs115535556	0.0017	0.0018	0.0019	0.0016	0.0168	0.0017	0.0017	0.0156	0.0152	0.0168	0.0054	0.0029	0.0004	0	0.0102	0.0012	0.0035	9.278e-05	0.0061	0.0062	0.0063	0.0059	0.0168	0.0058	0.0057	0.0157	0.0153	0.0168	0	0.0078	0.0017	0	0	0.0102	0.0013	0.0085	0.0004	1.0	0.00964	T	0.373	0.16328	T	0.0	0.20732	B	0.001	0.12133	B	0.272632	0.03782	N	1.525080	1	0.08975	N	0.405	0.12330	N	3.55	0.14284	T	-0.14	0.10480	N	0.112	0.12913	-0.9756	0.35993	T	0.013	0.05033	T	10	0.0028297007	0.00045	T	.	.	.	0.062	0.17934	.	.	0.185906805712	0.18197	0.07919257835987145	0.07854	0.450640784615	0.44831	0.372542649508	0.21196	T	0.004168	0.03581	T	-0.66909	0.00056	T	-0.720252	0.04784	T	0.00483143045401824	0.00052	T	0.724428	0.33821	T	0.03547084	0.04181	0.032230046	0.01925	0.03547084	0.04181	0.032230046	0.01925	-3.814	0.21014	T	.	.	0.064	0.05447	B	.;.;.;.;.	.;.;.;.;.	0.808932	0.11799	8.370	0.3706565689457415	0.02420	0.02301	0.06614	N	AEFBI	0.049390	0.08528	N	-0.842702599188035	0.12229	0.5948706	-0.800489534251274	0.14484	0.7569937	9.52744897082547E-5	0.04910	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.21	0.362	0.15348	0.132000	0.15716	0.241000	0.16308	0.599000	0.40250	0.001000	0.13787	0.005000	0.19230	0.938000	0.47775	0.0:0.5568:0.0:0.4432	9.640	0.38998	954	0.10045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.126263	0.020380	0.011696	0.000000	0.008621	0.000000	0.000000	0.05263	2587.83	35	chr4	140911162	.	C	T	2587.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.65;DP=857;ExcessHet=0.119;FS=2.177;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.148;SOR=0.551	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1559,0,1537	17	0	2	0
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V,USP38:NM_032557:exon9:c.A2896G:p.I966V,USP38:NM_001290326:exon10:c.A1531G:p.I511V	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.026946	0.000000	0.000000	0.000000	0.003788	0.02632	1384.33	73	chr4	143214872	.	A	G	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.356;DP=1253;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.91;SOR=0.97	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1398,0,1874	18	0	1	0
chr4	143699849	143699849	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G827A:p.G276D	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0048	0.00379393	0.0027	0.0164	0.0051	0.0046	0.0021	0.0002	0	0.0022	0.0005821	90	154602	rs149219650	0.0009	0.0009	0.0009	0.0009	0.0148	0.0009	0.0008	0.0137	0.0133	0.0148	0.0012	0	0	0.0006	0.0091	0.0004	0.0015	0.0020	0.0043	0.0043	0.0044	0.0042	0.0140	0.0041	0.0039	0.0130	0.0126	0.0140	0	0.0017	0	0	0.0008	0.0034	0.0005	0.0038	0.0008	0.274	0.15823	T	0.442	0.13252	T	.	.	.	.	.	.	0.415924	0.04619	N	1.523810	1	0.08975	N	0.635	0.15989	N	2.09	0.20122	T	-1.34	0.33401	N	0.039	0.01274	-1.0169	0.24722	T	0.014	0.05513	T	8	0.003322959	0.00057	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	0.48528482341388735	0.48448	.	.	0.400290727615	0.25109	T	0.004599	0.04008	T	-0.698169	0.00037	T	-0.763971	0.02972	T	0.00202375306204244	0.00021	T	0.256074	0.03980	T	0.058401812	0.11744	0.10194784	0.24420	0.058401812	0.11744	0.10194784	0.24419	-4.535	0.31344	T	.	.	0.065	0.01810	B	.	.	0.253005	0.06321	2.781	0.76798391799292676	0.11613	0.03969	0.09378	N	AEFBCI	0.047292	0.07948	N	-1.0443728789965	0.07699	0.3585176	-1.19809405267896	0.05942	0.2845646	0.999024258173435	0.38237	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.05	-2.96	0.05212	1.251000	0.32465	-1.195000	0.06058	-0.176000	0.10722	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2833:0.2957:0.421	5.010	0.13647	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003883	0.000000	0.016393	0.010000	0.000000	0.000000	0.000000	0.000000	0.02632	1095.33	87	chr4	143699849	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.482;DP=1210;ExcessHet=0;FS=5.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=2.54;SOR=0.625	GT:AD:DP:GQ:PL	0/1:97,47:144:99:1109,0,2765	18	0	1	0
chr4	151662521	151662521	A	G	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon13:c.A2890G:p.R964G,FAM160A1:NM_001109977:exon14:c.A2890G:p.R964G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00899349808097	.	0.000599042	0.0003	0.0015	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs558029909	7.777e-05	7.524e-05	8.078e-05	7.466e-05	0.0017	6.577e-05	6.113e-05	0.0013	0.0012	0.0017	0.0004	0	0	0	0.0004	1.492e-05	0.0004	1.277e-05	0.0005	0.0005	0.0006	0.0004	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0005	0	0	0	0	5.88e-05	0	0	0.16	0.23721	T	0.235	0.24767	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.61	0.13095	T	-1.94	0.45042	N	0.09	0.07262	-0.9754	0.36037	T	0.020	0.08313	T	9	0.005207926	0.00113	T	0.008993	0.23678	T	0.017	0.02790	.	.	0.0806252709748	0.07271	0.356277386972651	0.35541	.	.	0.267464756966	0.05813	T	0.006362	0.05794	T	-0.613658	0.00120	T	-0.678881	0.07052	T	0.0254394490144433	0.01331	T	0.581942	0.21082	T	0.07291942	0.16257	0.072516896	0.15653	0.07291942	0.16257	0.072516896	0.15653	-3.072	0.10977	T	.	.	0.069	0.03736	B	.;.	.;.	1.993837	0.25335	16.72	0.97643219558490923	0.35091	0.03980	0.09394	N	AEFBI	0.053197	0.09565	N	-0.684720425061946	0.16457	0.8386324	-0.600222791457132	0.19487	1.045764	0.999582148524217	0.40607	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.35	-0.238	0.12411	0.608000	0.23921	3.161000	0.36568	-0.096000	0.16002	0.122000	0.23210	0.999000	0.35428	0.870000	0.41412	0.4456:0.0:0.2851:0.2693	3.766	0.08146	313	0.87327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001330	0.000000	0.007463	0.009009	0.000000	0.000000	0.000000	0.000000	0.02632	500.33	34	chr4	151662521	.	A	G	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.84;SOR=0.791	GT:AD:DP:GQ:PL	0/1:27,21:48:99:514,0,715	18	0	1	0
chr4	158868858	158868858	G	A	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon12:c.G1160A:p.R387Q,FNIP2:NM_001323916:exon13:c.G2291A:p.R764Q,FNIP2:NM_020840:exon13:c.G2222A:p.R741Q,FNIP2:NM_001366843:exon14:c.G2381A:p.R794Q	.	425	1094	3	0	0	3	0.00136924	.	.	.	698411	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00360220211356	0.0042	0.00139776	0.0051	0.0012	0.0021	0	0.0062	0.0078	0.0034	0.0014	0.0051616	798	154602	rs62001913	0.0068	0.0068	0.0070	0.0067	0.0081	0.0067	0.0066	0.0080	0.0079	0.0011	0.0026	0.0005	2.519e-05	0.0052	0.0012	0.0081	0.0051	0.0021	0.0045	0.0045	0.0048	0.0043	0.0077	0.0043	0.0042	0.0071	0.0069	0.0011	0	0.0038	0.0003	0	0.0050	0.0034	0.0077	0.0028	0.0015	0.753	0.03555	T	0.709	0.05544	T	0.064	0.23455	B	0.007	0.12992	B	0.783727	0.09451	N	0.906612	1	0.08975	N	0.855	0.21307	L	2.06	0.20523	T	-0.31	0.12099	N	0.055	0.02658	-0.9759	0.35926	T	0.021	0.08963	T	9	0.003086865	0.00051	T	0.003602	0.08247	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.15775478761718495	0.15696	0.167181305185	0.18855	0.20588208735	0.00649	T	0.005158	0.04603	T	-0.68681	0.00044	T	-0.752792	0.03378	T	0.00338510772129118	0.00036	T	0.756624	0.37993	T	0.02145947	0.00749	0.028963976	0.01184	0.02145947	0.00749	0.028963976	0.01184	-3.053	0.10763	T	.	.	0.067	0.02399	B	.	.	0.622815	0.09910	6.671	0.47959106642509625	0.03963	0.17911	0.20040	N	AEFBI	0.030179	0.02990	N	-0.820959430242526	0.12775	0.6249135	-0.787182479578607	0.14809	0.7757501	0.0615860427457442	0.15236	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	1.1	0.19578	1.242000	0.32358	1.479000	0.26808	-0.113000	0.14837	0.944000	0.32806	0.995000	0.32472	0.160000	0.20649	0.2669:0.1442:0.154:0.435	0.641	0.00758	867	0.32089	Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1615.33	34	chr4	158868858	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=772;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.129;SOR=0.766	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1629,0,1375	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|1:57,29:86:99:0|1:176711631_G_C:460,0,1616:176711631	4	0	14	1
chr4	186251511	186251511	C	T	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon9:c.C893T:p.P298L,KLKB1:NM_001318396:exon9:c.C287T:p.P96L,KLKB1:NM_001318394:exon10:c.C779T:p.P260L	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0142781275552	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs200398188	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.961e-05	2.236e-05	0	2.52e-05	0	0.0002	0.0001	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	0.0003	0	0.0012	0.652	0.04817	T	0.659	0.06666	T	.	.	.	.	.	.	0.792570	0.06720	N	1.101020	1	0.08975	N	.	.	.	-2.62	0.90017	D	-0.77	0.21429	N	0.132	0.16028	-1.0470	0.15246	T	0.090	0.34518	T	10	0.022260189	0.00551	T	0.014278	0.34290	T	0.349	0.67049	.	.	0.921398576477	0.92060	0.34457750232158985	0.34371	0.149640351898	0.16875	0.275754034519	0.06907	T	0.29504	0.66771	T	-0.296253	0.09019	T	-0.217338	0.52992	T	0.046557455788993	0.04884	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07650	B	.;.	.;.	2.382172	0.30579	18.48	0.76877985700194129	0.11646	0.10446	0.15951	N	AEFDGBCI	0.424875	0.48987	N	-0.110927856628323	0.36915	2.140436	-0.107549836829482	0.35085	2.025662	0.999996931514133	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658105	0.52812	0	0.564101	0.26826	0	.	.	5.45	4.56	0.55644	0.200000	0.17055	2.199000	0.31271	0.597000	0.34315	0.000000	0.06391	0.009000	0.19889	0.875000	0.41745	0.1553:0.6973:0.0:0.1474	6.905	0.23483	625	0.65529	.;PAN/Apple domain|Apple domain|PAN/Apple domain|Apple domain|Apple 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	1543.33	33	chr4	186251511	.	C	T	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=826;ExcessHet=0;FS=3.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.804;SOR=1.099	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1557,0,1417	18	0	1	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W	.	425	1060	35	2	0	39	0.0180639	.	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.033804	0.015152	0.044959	0.047059	0.100000	0.068966	0.018405	0.007634	0.02632	835.33	35	chr5	1037960	.	C	T	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.596;SOR=0.704	GT:AD:DP:GQ:PL	0/1:39,35:74:99:849,0,909	18	0	1	0
chr5	7875345	7875345	A	G	exonic	MTRR	.	nonsynonymous SNV	MTRR:NM_001364440:exon4:c.A371G:p.Y124C,MTRR:NM_001364441:exon4:c.A371G:p.Y124C,MTRR:NM_001364442:exon4:c.A371G:p.Y124C,MTRR:NM_002454:exon4:c.A371G:p.Y124C,MTRR:NM_024010:exon4:c.A371G:p.Y124C	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	300403	Disorders_of_Intracellular_Cobalamin_Metabolism	MedGen:CN043592	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0314228635239	7.7e-05	.	7.413e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200047657	6.912e-05	6.977e-05	6.946e-05	6.878e-05	3.959e-05	5.782e-05	5.394e-05	3e-05	2.672e-05	0	0	0.0020	0	0	0	3.959e-05	4.969e-05	1.16e-05	3.943e-05	3.94e-05	2.569e-05	5.381e-05	2.939e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.939e-05	0	0	0.054	0.45393	T	0.05	0.48080	T	.	.	.	.	.	.	0.000001	0.62929	N	0.059077	1	0.81001	D	1.555	0.39373	L	0.28	0.59037	T	-6.79	0.96608	D	0.507	0.53884	-0.8706	0.50484	T	0.180	0.52705	T	10	0.15305188	0.28898	T	0.031423	0.53513	D	0.265	0.57870	.	.	0.840623192393	0.83909	0.8245048287168373	0.82408	0.0748916050425	0.08402	0.645190477371	0.59301	T	.	.	.	-0.0992657	0.36546	T	-0.223999	0.52351	T	0.238492757966195	0.22349	T	0.894511	0.63379	D	0.47664332	0.65696	0.3523847	0.60817	0.47664332	0.65696	0.3523847	0.60817	-9.787	0.72626	D	0.39084048093013823	0.48405	0.201	0.42506	B	.;.;.	.;.;.	3.664345	0.52068	23.2	0.99078514698250619	0.51906	0.96456	0.69229	D	AEFBI	0.636375	0.61555	D	0.0935750930633476	0.46162	2.860973	0.189193583193764	0.49252	3.130809	0.999997416818978	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.21	0.48984	4.973000	0.63479	6.072000	0.53266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8553:0.0:0.1447:0.0	9.37	0.37410	744	0.52588	Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	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	1063.33	33	chr5	7875345	.	A	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=729;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.08;SOR=0.488	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1077,0,1117	18	0	1	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	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	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.05263	2988.83	43	chr5	16701687	.	A	G	2988.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.248;DP=886;ExcessHet=0.119;FS=0.514;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.206;SOR=0.628	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1248,0,1571	17	0	2	0
chr5	17655153	17655153	C	T	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G386A:p.R129H	.	933	584	5	0	0	5	0.00426257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0058399	152	26028	rs139670564	0.0078	0.0062	0.0075	0.0080	0.0101	0.0075	0.0074	0.0082	0.0080	0.0008	0.0059	0.0041	0	0.0141	0.0101	0.0085	0.0053	0.0100	0.0058	0.0058	0.0058	0.0058	0.0115	0.0055	0.0053	0.0091	0.0082	0.0007	0	0.0036	0.0014	0	0.0146	0.0068	0.0083	0.0052	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011746377	0.00255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923508	0.72088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49769	B	.	.	1.646546	0.21009	15.01	0.89699310346711458	0.19023	0.51438	0.28895	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.0413807614660387	0.14481	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.103547	0.22722	0.547	-0.473	0.11508	4.108000	0.57555	-0.502000	0.08796	-0.251000	0.07141	1.000000	0.71638	0.002000	0.18203	0.053000	0.15439	0.3309:0.669:0.0:0.0	5.332	0.15246	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	442.83	33	chr5	17655153	.	C	T	442.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=486;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.49;MQRankSum=0.402;QD=9.42;ReadPosRankSum=-0.485;SOR=1.029	GT:AD:DP:GQ:PL	0/1:11,13:24:99:365,0,238	17	0	2	0
chr5	23527530	23527530	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2442A:p.S814R,PRDM9:NM_001376900:exon11:c.C2442A:p.S814R,PRDM9:NM_020227:exon11:c.C2442A:p.S814R	.	430	1016	30	0	46	76	0.014549	.	.	.	3547295	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0025946380223	.	.	0.0006	0.0051	0.0004	0.0004	0	0.0003	0.0023	0.0002	.	.	.	rs1445421439	0.0005	0.0022	0.0005	0.0004	0.0067	0.0004	0.0004	0.0060	0.0057	0.0067	0.0011	0.0012	0.0019	3.795e-05	0.0017	0.0002	0.0012	0.0003	5.517e-05	0.0002	5.382e-05	5.658e-05	7.335e-05	2.379e-05	1.6e-05	2.411e-05	1.452e-05	4.091e-05	0	0	0.0003	0	0	0	7.335e-05	0	0	0.292	0.14894	T	0.272	0.22223	T	0.793	0.44725	P	0.246	0.38861	B	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.2	0.37405	T	-1.35	0.33598	N	0.116	0.10483	-1.0778	0.07781	T	0.043	0.18618	T	9	0.007636249	0.00173	T	0.002595	0.05235	T	0.028	0.06331	0.588	0.71623	0.0846915920261	0.08053	0.01985173112782321	0.01938	0.374703731158	0.38933	0.659872531891	0.61391	T	0.040852	0.25665	T	-0.347385	0.04893	T	-0.736771	0.04028	T	0.154884204268456	0.17485	T	0.0363964	0.00252	T	0.16016729	0.35940	0.08991091	0.21054	0.16016729	0.35939	0.08991091	0.21053	-2.79	0.08092	T	.	.	0.506	0.64857	A	.	.	-1.100849	0.00639	0.017	0.76626361170929536	0.11544	0.00595	0.02663	N	AEFDGBI	0.020734	0.00849	N	-1.13317599197083	0.06061	0.2780208	-1.37209568360649	0.03552	0.1659261	0.788608699109344	0.23974	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.261000	0.00051	-20.000000	0.00162	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3934:0.2122:0.0:0.3944	4.061	0.09317	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017970	0.005051	0.019022	0.004098	0.050000	0.051724	0.018293	0.015152	0.05263	2286.83	162	chr5	23527530	.	C	A	2286.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.216;DP=3320;ExcessHet=0.119;FS=19.49;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.06;MQRankSum=1.2;QD=6.48;ReadPosRankSum=1.85;SOR=3.907	GT:AD:DP:GQ:PL	0/1:169,13:182:99:1232,0,6824	17	0	2	0
chr5	23527531	23527531	A	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A2443G:p.N815D,PRDM9:NM_001376900:exon11:c.A2443G:p.N815D,PRDM9:NM_020227:exon11:c.A2443G:p.N815D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000610510653665	.	.	0.0007	0.0083	0.0004	0.0004	0	0.0003	0.0012	0.0002	0.0004851	75	154602	rs202203985	0.0001	0.0016	0.0001	9.829e-05	0.0024	8.811e-05	8.224e-05	0.0019	0.0017	0.0024	0.0002	0.0001	3.083e-05	6.109e-05	0.0004	4.031e-05	0.0002	0.0003	0.0002	0.0007	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0004	0	0.0002	0.0004	0	0	0	0.0003	0	0	0.17	0.22833	T	0.298	0.20486	T	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	2.05	0.20664	T	0.28	0.04233	N	0.041	0.01421	-1.0361	0.18513	T	0.032	0.13767	T	9	0.004351616	0.00088	T	6.11E-4	0.00289	T	0.040	0.10527	.	.	0.151104730317	0.14643	0.016712596279843173	0.01626	0.13996330157	0.15771	0.590891361237	0.51620	T	0.023753	0.18078	T	-0.436577	0.01355	T	-0.864889	0.00792	T	0.041924249380827	0.04041	T	0.00864199	0.00041	T	0.09816201	0.23149	0.06937948	0.14611	0.09816201	0.23149	0.06937948	0.14611	-1.368	0.01514	T	.	.	0.337	0.55692	B	.	.	-1.517119	0.00284	0.005	0.56675825690069459	0.05603	0.00145	0.00883	N	AEFDGBI	0.014849	0.00254	N	-2.58568011577053	0.00010	0.000438747	-2.73221310855866	0.00006	0.0002938632	0.938105425917875	0.27328	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.997000	0.00034	-20.000000	0.00162	-1.646000	0.00832	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.093:0.115:0.5628:0.2292	7.125	0.24643	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	301.3	162	chr5	23527531	.	A	G	301.3	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.147;DP=3280;ExcessHet=0.119;FS=17.851;InbreedingCoeff=-0.0765;MLEAC=2;MLEAF=0.056;MQ=52.07;MQRankSum=1.63;QD=0.92;ReadPosRankSum=3.11;SOR=2.654	GT:AD:DP:GQ:PL	0/1:167,2:173:99:1235,0,6782	16	0	2	1
chr5	23527541	23527541	-	GTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	exonic	PRDM9	.	stopgain	PRDM9:NM_001310214:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_001376900:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_020227:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22	.	434	1018	45	0	25	70	0.0216242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.805e-05	0	0	0	0	1.623e-05	0.0012	6.796e-05	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.375e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1387.54	162	chr5	23527541	.	A	AGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	1387.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.644;DP=3208;ExcessHet=0.119;FS=16.541;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=51.81;MQRankSum=1.21;QD=3.81;ReadPosRankSum=2.53;SOR=3.604	GT:AD:DP:GQ:PL	0/1:185,2:187:99:783,0,7508	16	0	2	1
chr5	43609332	43609332	C	T	exonic	NNT	.	nonsynonymous SNV	NNT:NM_012343:exon2:c.C137T:p.A46V,NNT:NM_182977:exon2:c.C137T:p.A46V	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0573848939952	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs759791282	1.095e-05	1.094e-05	8.17e-06	1.376e-05	5.042e-05	6.48e-06	5.25e-06	9.25e-06	4.56e-06	2.988e-05	0	0	5.042e-05	0	0	8.995e-06	0	3.482e-05	6.578e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.177	0.26192	T	0.047	0.48855	D	0.006	0.13644	B	0.001	0.04355	B	0.505633	0.11900	N	0.785067	1	0.81001	D	0.695	0.17993	N	-1.66	0.95595	D	-1.41	0.34795	N	0.253	0.28616	0.025	0.82755	D	0.702	0.89735	D	10	0.1656464	0.30955	T	0.057385	0.66945	D	0.191	0.46948	0.407	0.44066	0.701930974138	0.69935	0.6057453223996093	0.60505	0.278817494051	0.30363	0.314811438322	0.12635	T	0.029654	0.30451	T	0.0854698	0.62674	D	-0.115005	0.62210	T	0.271379560232162	0.23806	T	0.69643	0.30590	T	0.07144074	0.15816	0.09656764	0.22951	0.07144074	0.15816	0.09656764	0.22950	-1.726	0.02298	T	.	.	0.071	0.04041	B	.;.;.;.	.;.;.;.	2.815214	0.37074	20.4	0.99595576549441078	0.73866	0.95164	0.63673	D	AEFDBI	0.525419	0.54820	D	-0.252210074407485	0.31016	1.734984	-0.0385377562779179	0.37989	2.231973	0.999996524587446	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	4.82	0.61641	2.993000	0.49114	4.748000	0.44643	0.597000	0.34315	0.985000	0.35982	1.000000	0.68203	0.913000	0.44837	0.0:0.8555:0.1445:0.0	14.726	0.68962	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	934.33	40	chr5	43609332	.	C	T	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=799;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.562;SOR=1.076	GT:AD:DP:GQ:PL	0/1:40,41:81:99:948,0,911	18	0	1	0
chr5	69308024	69308024	A	C	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon5:c.T455G:p.I152R,CCDC125:NM_176816:exon5:c.T458G:p.I153R,CCDC125:NM_001297697:exon6:c.T83G:p.I28R	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0130146900919	0.0007	0.00179712	0.0010	0.0013	0.0018	0	0	0.0012	0.0022	0.0002	0.0010867	168	154602	rs147567034	0.0009	0.0009	0.0009	0.0008	0.0094	0.0008	0.0008	0.0074	0.0067	0.0016	0.0021	0.0024	0	0	0.0094	0.0007	0.0024	0.0002	0.0014	0.0014	0.0014	0.0014	0.0044	0.0013	0.0012	0.0036	0.0033	0.0015	0	0.0044	0.0026	0	0	0.0136	0.0009	0.0052	0.0002	0.004	0.78490	D	0.002	0.79402	D	0.925	0.51395	P	0.667	0.53020	P	0.032369	0.25039	N	0.438594	0.997544	0.46353	D	2.14	0.59869	M	0.87	0.46412	T	-4.06	0.75537	D	0.528	0.56489	-0.9356	0.43303	T	0.125	0.42903	T	10	0.012123197	0.00262	T	0.013015	0.32072	T	0.244	0.55061	.	.	0.428516003163	0.42472	0.192961731699872	0.19214	0.273820942489	0.29883	0.427822351456	0.28911	T	0.072894	0.50274	T	-0.222473	0.17656	T	-0.111358	0.62503	T	0.0483290379125518	0.05204	T	.	.	.	0.5396604	0.69377	0.6133059	0.77498	0.5396604	0.69378	0.6133059	0.77499	-12.231	0.85958	D	.	.	0.642	0.72014	P	.;.;.;.	.;.;.;.	4.468844	0.69614	25.4	0.98835342061883547	0.47018	0.97832	0.77462	D	AEFI	0.575465	0.57785	D	0.447725033131728	0.64074	4.65396	0.521516119564546	0.69441	5.360711	0.824704470767605	0.24586	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	5.702000	0.67987	11.076000	0.85665	0.739000	0.86063	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.798	0.69516	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.020202	0.016304	0.008772	0.000000	0.000000	0.012195	0.000000	0.02632	661.33	34	chr5	69308024	.	A	C	661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=688;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.38;SOR=0.557	GT:AD:DP:GQ:PL	0/1:37,28:65:99:675,0,958	18	0	1	0
chr5	69373887	69373887	A	G	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon2:c.A100G:p.T34A,RAD17:NM_002873:exon3:c.A67G:p.T23A,RAD17:NM_133344:exon3:c.A67G:p.T23A,RAD17:NM_001278622:exon4:c.A67G:p.T23A,RAD17:NM_133342:exon4:c.A67G:p.T23A,RAD17:NM_133343:exon4:c.A67G:p.T23A,RAD17:NM_133338:exon5:c.A67G:p.T23A	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00848218847751	0.0008	0.00239617	0.0011	0.0018	0.0020	0	0	0.0012	0.0022	0.0009	0.0011319	175	154602	rs138670053	0.0009	0.0009	0.0009	0.0009	0.0087	0.0008	0.0008	0.0068	0.0061	0.0022	0.0025	0.0024	5.045e-05	0	0.0087	0.0007	0.0025	0.0008	0.0015	0.0015	0.0015	0.0015	0.0045	0.0013	0.0013	0.0037	0.0034	0.0018	0	0.0045	0.0026	0	0	0.0170	0.0009	0.0052	0.0002	0.374	0.11406	T	0.769	0.17217	T	0.0	0.02946	B	0.001	0.04355	B	0.122490	0.18954	N	0.573369	1	0.30061	N	0.855	0.21307	L	2.23	0.44856	T	-0.32	0.12283	N	0.038	0.01347	-1.0037	0.28844	T	0.049	0.20868	T	10	0.003594935	0.00065	T	0.008482	0.22432	T	0.026	0.05648	.	.	0.204665344411	0.20097	0.23135176777254593	0.23050	0.0537011207665	0.05932	0.240866303444	0.02869	T	0.095302	0.39593	T	-0.60805	0.00130	T	-0.653462	0.08714	T	0.00131013022641434	0.00013	T	0.464953	0.14122	T	0.03168526	0.03054	0.024303526	0.00448	0.03168526	0.03053	0.024303526	0.00447	-3.587	0.18597	T	.	.	0.059	0.01271	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.312564	0.00428	0.009	0.6243656244205863	0.06962	0.01835	0.05691	N	AEFBI	0.045290	0.07390	N	-1.32449463500944	0.03397	0.1516629	-1.33393741131967	0.03998	0.1877104	0.999609012664629	0.40866	0.651	0.46895	0	0.685571	0.66316	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.38	-1.73	0.07646	-0.379000	0.07494	-2.264000	0.03979	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4356:0.0:0.3849:0.1795	5.512	0.16176	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	0.013609	0.030303	0.019022	0.008772	0.000000	0.000000	0.009202	0.000000	0.02941	311.14	24	chr5	69373887	.	A	G	311.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.6;DP=679;ExcessHet=0;FS=5.073;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=1.31;SOR=1.623	GT:AD:DP:GQ:PL	0/1:21,14:35:99:324,0,419	16	0	1	2
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.05263	2804.83	33	chr5	69414057	.	G	A	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=802;ExcessHet=0.119;FS=1.068;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.724;SOR=0.598	GT:AD:DP:GQ:PL	0/1:45,63:108:99:1685,0,1147	17	0	2	0
chr5	72198766	72198766	C	A	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C5033A:p.T1678N,MAP1B:NM_005909:exon5:c.C5411A:p.T1804N	.	431	1087	4	0	0	4	0.00183655	.	.	.	2344584	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.139	0.0104651261161	.	.	0.0002	0	0	0	0	3e-05	0	0.0012	0.0001488	23	154602	rs767578125	5.883e-05	5.883e-05	2.178e-05	9.625e-05	0.0007	4.876e-05	4.496e-05	0.0006	0.0005	0	0	0	0	0	0.0007	1.529e-05	6.623e-05	0.0007	1.971e-05	1.97e-05	0	4.036e-05	0.0004	5.24e-06	2.45e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.021	0.49117	D	0.443	0.13215	T	0.651	0.40707	P	0.216	0.37572	B	0.000219	0.47681	D	0.091918	0.999962	0.52935	D	0.805	0.20218	L	3.94	0.03408	T	-0.56	0.17003	N	0.191	0.20925	-0.7522	0.57820	T	0.010	0.03811	T	10	0.03755808	0.02117	T	0.010465	0.27023	T	0.139	0.37390	0.093	0.01151	0.31316556289	0.30919	0.3158439910352769	0.31497	0.642375242764	0.57806	0.569470763206	0.48603	T	0.116592	0.43604	T	-0.479933	0.00740	T	-0.526922	0.19595	T	0.122020322781653	0.14626	T	0.762724	0.38847	T	0.11737824	0.27672	0.116773754	0.28190	0.11737824	0.27672	0.116773754	0.28189	-5.432	0.41226	T	.	.	0.093	0.13969	B	.	.	3.429286	0.47650	22.5	0.97516167980898372	0.34379	0.96623	0.70072	D	AEFBCI	0.722900	0.67269	D	0.227392081469292	0.52531	3.427	0.378319517188751	0.60231	4.208351	0.999999999997077	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	6.098000	0.71106	6.033000	0.52942	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.439	0.94801	234	0.90879	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2171.33	42	chr5	72198766	.	C	A	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=1301;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.408;SOR=0.613	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2185,0,1932	18	0	1	0
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S,ARHGEF28:NM_001177693:exon4:c.A323G:p.N108S	.	432	1076	14	0	0	14	0.00646353	.	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.000000	0.000000	0.025862	0.000000	0.003788	0.05263	5613.83	34	chr5	73753050	.	A	G	5613.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1034;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.211;SOR=0.63	GT:AD:DP:GQ:PL	0/1:124,104:228:99:2739,0,3143	17	0	2	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,78:78:99:3266,237,0	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	1/1:0,78:78:99:3266,237,0	9	1	8	1
chr5	98881277	98881277	A	C	splicing	CHD1	NM_001376194:exon21:c.2964+2T>G;NM_001270:exon21:c.2964+2T>G;NM_001364113:exon21:c.2964+2T>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771067213	1.372e-06	2.067e-05	0	2.761e-06	3.269e-05	0	0	.	.	0	0	0	0	0	0	0	0	3.269e-05	2.547e-05	9.518e-05	0	5.171e-05	5.328e-05	0	0	.	.	0	0	0	0	0	0	0	5.328e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161339	0.70325	D	-0.00602411	0.69943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.316065	0.89230	29.9	0.97980786696476108	0.37327	0.98909	0.88484	D	AEFBI	.	.	.	0.946481265018365	0.93844	12.31655	0.742202107142468	0.85572	8.621144	0.999998975339752	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.125526	0.03468	0	0.117559	0.03655	0	0.816777	0.48665	5.23	4.05	0.46415	9.325000	0.96006	11.234000	0.90205	-0.093000	0.16093	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.8678:0.0:0.0:0.1322	11.746	0.51087	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	51.19	12	chr5	98881277	.	A	C	51.19	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.892;DP=647;ExcessHet=0.119;FS=9.148;InbreedingCoeff=-0.2433;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.45;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,4:27:50:0|1:98881277_A_C:50,0,743:98881277	6	0	2	11
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	340.2	63	chr5	102270770	.	G	C	340.2	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,9:66:49:.:.:49,0,2010:.	12	0	5	2
chr5	111113152	111113152	T	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon16:c.T1795G:p.C599G	Glaucoma 1, open angle, G	1	1515	6	0	0	6	0.00197628	0.0157	0.196	.	300291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.0798847066219	0.0003	.	0.0004	0	0	0	0	0.0001	0.0011	0.0022	0.000304	47	154602	rs147964188	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	6.154e-05	4.526e-05	0.0004	2.61e-05	0	0.0011	0.0002	0.0003	0.0022	9.934e-05	9.85e-05	7.772e-05	0.0001	0.0019	6.053e-05	4.917e-05	0.0010	0.0007	0	0	0	0.0003	0	0	0	7.382e-05	0	0.0019	.	.	.	0.349	0.17696	T	0.555	0.38231	P	0.138	0.33406	B	0.000000	0.84330	D	0.122034	0.999913	0.51042	D	0.755	0.19153	N	-1.41	0.80560	T	-2.77	0.58733	D	0.759	0.75742	-0.3641	0.73141	T	0.318	0.68744	T	10	0.16127583	0.30255	T	0.079885	0.73335	D	0.477	0.76881	.	.	0.794967270964	0.79306	0.5308293938764561	0.53006	0.0472017422713	0.05146	0.430672287941	0.29300	T	0.363965	0.72963	T	-0.163006	0.26299	T	-0.0141873	0.69410	D	0.0625616827160598	0.07567	T	0.909009	0.67793	D	0.6407565	0.74871	0.8329081	0.90375	0.8647306	0.88450	0.819978	0.89538	-7.451	0.57265	T	.	.	0.249	0.49865	B	.;.;.	.;.;.	3.349247	0.46190	22.3	0.93749240746247742	0.23689	0.96220	0.68087	D	AEFBI	0.719201	0.67016	D	0.190068207346719	0.50722	3.259598	0.344624763202159	0.58183	3.98754	0.999974450366934	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	4.892000	0.62883	6.138000	0.54012	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.070	0.80721	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1112.33	33	chr5	111113152	.	T	G	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.08;SOR=0.727	GT:AD:DP:GQ:PL	0/1:86,57:143:99:1126,0,1954	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|1:50,26:76:99:0|1:119499447_G_C:455,0,1382:119499447	13	0	6	0
chr5	129461200	129461200	G	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G190A:p.A64T	.	433	996	89	4	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00798722	0.0423	0	0	0	.	0.0098	0	0.0556	0.0023738	367	154602	rs149861653	0.0092	0.0086	0.0086	0.0098	0.0419	0.0090	0.0090	0.0401	0.0394	0.0019	0.0113	0.0262	3.704e-05	0.0008	0.0326	0.0081	0.0115	0.0419	0.0070	0.0070	0.0071	0.0069	0.0318	0.0067	0.0065	0.0277	0.0261	0.0024	0.0077	0.0077	0.0274	0.0008	0.0002	0.0171	0.0083	0.0090	0.0318	.	.	.	.	.	.	0.203	0.29776	B	0.012	0.16012	B	0.356684	0.13733	N	0.540328	0.999988	0.18198	N	0.345	0.11182	N	.	.	.	.	.	.	.	.	-1.0592	0.11956	T	0.042	0.18118	T	9	0.0025759041	0.00039	T	.	.	.	0.042	0.11227	.	.	.	.	0.14575235333896494	0.14498	1.40670516952	0.85333	0.89497846365	0.95864	D	0.004443	0.03847	T	-0.524688	0.00413	T	-0.462224	0.26357	T	0.00914668875011865	0.00115	T	0.557244	0.19380	T	0.06468684	0.13749	0.10315857	0.24744	0.06468684	0.13749	0.10315857	0.24744	-5.653	0.43273	T	.	.	0.088	0.11797	B	.;.	.;.	2.266258	0.28962	17.97	0.98187687496377318	0.39001	0.41712	0.26718	N	AEFDBHCI	0.075369	0.15133	N	-0.911132831483757	0.10581	0.5062969	-0.901174283232643	0.12066	0.6185421	0.999999553852746	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	3.49	-2.57	0.05885	0.749000	0.25985	3.328000	0.37603	0.498000	0.22619	0.997000	0.40164	1.000000	0.68203	0.829000	0.39076	0.0:0.3642:0.2657:0.3701	8.352	0.31471	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018883	0.023438	0.012887	0.028455	0.000000	0.000000	0.019048	0.027027	0.02632	306.33	15	chr5	129461200	.	G	A	306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.259;DP=475;ExcessHet=0;FS=1.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.957;SOR=0.346	GT:AD:DP:GQ:PL	0/1:16,14:30:99:320,0,470	18	0	1	0
chr5	132659458	132659458	T	C	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon2:c.T215C:p.L72P,IL13:NM_001354991:exon3:c.T20C:p.L7P,IL13:NM_001354993:exon3:c.T20C:p.L7P,IL13:NM_001354992:exon4:c.T20C:p.L7P	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0452577720902	0.0003	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs148077750	8.085e-05	8.277e-05	8.043e-05	8.127e-05	0.0014	6.878e-05	6.43e-05	0.0007	0.0005	8.967e-05	0.0001	0	5.04e-05	0	0.0014	7.113e-05	0.0002	5.83e-05	8.542e-05	8.537e-05	7.71e-05	9.414e-05	0.0002	4.957e-05	3.963e-05	9.047e-05	7.012e-05	2.413e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	0.068646	0.21658	N	0.325754	0.999994	0.58761	D	.	.	.	0.2	0.60111	T	-5.95	0.89152	D	0.861	0.87049	-0.4733	0.69609	T	0.281	0.65320	T	10	0.8581712	0.85024	D	0.045258	0.61892	D	0.488	0.77592	.	.	0.842607017711	0.84110	0.6356794888676748	0.63501	0.708055894707	0.61527	0.369572281837	0.20770	T	.	.	.	0.0985846	0.64139	D	0.140502	0.79576	D	0.302077442407608	0.25090	T	0.665033	0.27384	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.64839	A	.;.	.;.	3.402644	0.47165	22.4	0.9985633309997265	0.93548	0.27357	0.23254	N	AEFDBI	0.204955	0.33135	N	0.226461193020081	0.52485	3.422312	0.102898298090287	0.44696	2.746418	0.99999513591921	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.88	3.88	0.43959	1.018000	0.29604	2.078000	0.30479	0.665000	0.62972	0.382000	0.26022	0.999000	0.35428	0.476000	0.28476	0.0:0.0:0.0:1.0	9.373	0.37426	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1143.33	34	chr5	132659458	.	T	C	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=719;ExcessHet=0;FS=5.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.477;SOR=0.663	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1157,0,1159	18	0	1	0
chr5	132677862	132677862	C	T	exonic	IL4	.	nonsynonymous SNV	IL4:NM_001354990:exon3:c.C265T:p.R89C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014591712	0	1.908e-05	0	0	.	0	0	.	.	0	.	.	.	0	.	0	0	.	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	6.536e-05	0	0	0	0	0.0001	0	0	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.08486408	0.14268	T	.	.	.	.	.	.	.	0.388495093706	0.38465	.	.	.	.	.	.	.	.	.	.	-0.740288	0.00021	T	-0.903625	0.00478	T	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30868	B	.	.	-0.050830	0.03944	0.880	0.57967514866388758	0.05887	0.03671	0.08935	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999973760922619	0.50053	0.074388	0.01536	0	0.060609	0.00678	0	0.078125	0.02361	0	0.074188	0.01825	0	0.0510216	0.10089	3.12	-4.01	0.03775	-1.241000	0.03021	-1.292000	0.05797	-3.187000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2668:0.0:0.7332	10.153	0.41982	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1894.33	33	chr5	132677862	.	C	T	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=743;ExcessHet=0;FS=2.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.989;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,77:129:99:1908,0,1155	18	0	1	0
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1117.17	226	chr5	141173766	.	G	A	1117.17	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:111,35:172:79:79,0,2239	10	0	2	7
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|1:126,55:181:99:0|1:141303079_C_G:968,0,3861:141303079	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|1:126,55:181:99:0|1:141303079_C_G:968,0,3861:141303079	1	0	18	0
chr5	141332423	141332423	T	G	exonic	PCDHGA1	.	nonsynonymous SNV	PCDHGA1:NM_018912:exon1:c.T1739G:p.L580R,PCDHGA1:NM_031993:exon1:c.T1739G:p.L580R	.	9	1512	1	0	0	1	0.000330579	.	.	.	2205043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.00216771107033	.	.	7.483e-05	0	0	0	0	1.512e-05	0	0.0005	5.82e-05	9	154602	rs774677754	6.567e-05	7.388e-05	2.995e-05	0.0001	0.0008	5.495e-05	5.107e-05	0.0006	0.0006	2.987e-05	0	0	0.0003	0	0	1.259e-05	3.312e-05	0.0008	2.634e-05	3.285e-05	0	5.393e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.06944	B	0.000161	0.49130	N	0.000000	0.997262	0.22728	N	-2.43	0.00068	N	0.33	0.58323	T	6.61	0.00005	N	0.112	0.12770	-0.9565	0.39825	T	0.029	0.12453	T	10	0.027876139	0.00926	T	0.002168	0.04071	T	0.112	0.31546	0.745	0.87654	0.238705975628	0.23479	0.12923376339264087	0.12848	0.415421845615	0.42198	.	.	.	0.031139	0.21906	T	-0.500681	0.00567	T	-0.589377	0.13721	T	0.024771388971901	0.01243	T	0.320668	0.13351	T	0.04184353	0.06238	0.10777772	0.25950	0.04184353	0.06238	0.10777772	0.25950	5.288	0.00003	T	.	.	0.038	0.00008	B	.;.	.;.	1.053580	0.14351	10.93	0.14174304093439827	0.00304	0.01073	0.03970	N	AEFBI	0.057185	0.10632	N	-1.51638941149458	0.01741	0.07625998	-1.3084321052749	0.04320	0.2035186	0.0720325911055038	0.15588	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.05	3.18	0.35615	0.090000	0.14865	.	.	-0.741000	0.03665	0.000000	0.06391	0.986000	0.30841	0.018000	0.11154	0.0895:0.0:0.5849:0.3256	6.220	0.19889	474	0.77851	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2216.33	46	chr5	141332423	.	T	G	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=1112;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.81;MQRankSum=-1.418;QD=14.03;ReadPosRankSum=-1.232;SOR=0.788	GT:AD:DP:GQ:PL	0/1:74,84:158:99:2230,0,1966	18	0	1	0
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y,PCDHGB2:NM_032096:exon1:c.C1814A:p.S605Y	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;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	0.017553	0.005102	0.004076	0.024793	0.050000	0.008772	0.018519	0.045455	0.02632	2300.33	33	chr5	141361949	.	C	A	2300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-8.646;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.79;MQRankSum=1.46;QD=17.83;ReadPosRankSum=-1.234;SOR=0.716	GT:AD:DP:GQ:PL	0/1:59,70:129:99:2314,0,1919	18	0	1	0
chr5	141371577	141371577	G	A	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.G1183A:p.V395I,PCDHGB3:NM_032097:exon1:c.G1183A:p.V395I	.	424	1090	6	2	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00303407297116	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0012	0.0011	0.0005	0.0007115	110	154602	rs202142331	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0011	0.0011	0.0003	0.0004	7.653e-05	0	7.493e-05	0.0014	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0002	0	0.0007	0	0	0	0	0.0010	0.0024	0.0004	.	.	.	0.187	0.28764	T	0.178	0.28960	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.035	0.25616	L	2.09	0.20122	T	.	.	.	0.024	0.01740	.	.	.	.	.	.	.	0.008795857	0.00199	T	0.003034	0.06517	T	.	.	.	.	0.635802757196	0.63280	0.027690465593993054	0.02719	0.191815708465	0.21510	.	.	.	0.003733	0.03140	T	-0.653524	0.00069	T	-0.75707	0.03218	T	.	.	.	0.122788	0.01053	T	0.042033363	0.06301	0.06272714	0.12315	0.042033363	0.06301	0.06272714	0.12315	-2.636	0.06782	T	.	.	0.066	0.02173	B	.;.	.;.	0.128753	0.05250	1.751	0.84737452834625193	0.15468	0.09370	0.15140	N	AEFBI	0.104155	0.20847	N	.	.	.	.	.	.	0.455484861000563	0.20578	0.549168	0.22868	0	0.588066	0.40923	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	4.89	1.93	0.24985	-0.445000	0.06918	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.1528:0.0:0.5753:0.2719	5.378	0.15478	650	0.62973	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	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2930.33	36	chr5	141371577	.	G	A	2930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.48;DP=1624;ExcessHet=0;FS=1.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.635;SOR=0.605	GT:AD:DP:GQ:PL	0/1:110,104:214:99:2944,0,2714	18	0	1	0
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-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	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.02632	1975.33	35	chr5	141399013	.	G	A	1975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=1311;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.136;SOR=0.688	GT:AD:DP:GQ:PL	0/1:94,75:169:99:1989,0,2651	18	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:181,106:287:99:593,0,3459	8	0	11	0
chr5	141422807	141422807	G	A	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032091:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032092:exon1:c.G1580A:p.R527Q	.	11	1487	23	1	0	25	0.00833611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0061901	0.0038	0.0001	0.0006	0.0001	0	0.0019	0.0055	0.0195	0.0033441	517	154602	rs199507728	0.0020	0.0020	0.0014	0.0026	0.0183	0.0019	0.0019	0.0176	0.0173	0.0002	0.0006	0.0043	0.0002	0.0002	0.0113	0.0009	0.0026	0.0183	0.0015	0.0015	0.0012	0.0018	0.0205	0.0013	0.0013	0.0172	0.0160	9.623e-05	0	0.0008	0.0040	0.0004	9.413e-05	0.0136	0.0013	0.0014	0.0205	0.425	0.10874	T	0.25	0.23707	T	0.304	0.37393	B	0.044	0.31143	B	0.255422	0.15422	N	0.351137	0.999938	0.19363	N	0.645	0.16088	N	0.15	0.60734	T	-1.72	0.45404	N	0.043	0.04426	-1.0683	0.09791	T	0.087	0.33718	T	10	0.0035232902	0.00063	T	.	.	.	0.060	0.17295	.	.	0.570128362464	0.56678	0.0724609524383448	0.07183	0.539253451491	0.51157	.	.	.	0.006777	0.06208	T	-0.588445	0.00171	T	-0.6031	0.12552	T	0.00403512760185142	0.00043	T	0.876412	0.60517	D	0.026217287	0.01651	0.040891923	0.04523	0.026217287	0.01651	0.040891923	0.04522	-5.866	0.47452	T	.	.	0.073	0.05274	B	.;.;.	.;.;.	0.689435	0.10580	7.287	0.92052471578566164	0.21396	0.07131	0.13157	N	AEFDBHCI	0.091924	0.18615	N	-0.852786668613908	0.11981	0.5813239	-0.815637048781199	0.14116	0.7359606	0.999996972298098	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.76	2.8	0.31881	1.040000	0.29888	.	.	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.426:0.0:0.574:0.0	8.167	0.30395	819	0.41190	.;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	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.02632	4128.33	33	chr5	141422807	.	G	A	4128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=1229;ExcessHet=0;FS=4.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.825;SOR=0.521	GT:AD:DP:GQ:PL	0/1:141,149:290:99:4142,0,3565	18	0	1	0
chr5	141646089	141646089	G	C	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon12:c.C1147G:p.Q383E	.	433	1088	1	0	0	1	0.000459348	0.0014	0.274	.	3438846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00520008849463	.	.	3.592e-05	0	0.0002	0	0	4.233e-05	0	0	1.94e-05	3	154602	rs769631846	1.167e-05	1.163e-05	8.19e-06	1.519e-05	0.0002	7.11e-06	5.81e-06	2.212e-05	1.443e-05	0	6.779e-05	0	0	0	0.0002	7.208e-06	0	5.861e-05	6.57e-06	6.566e-06	1.284e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.04	0.21238	B	0.006	0.12133	B	0.001063	0.40389	N	0.205035	1	0.81001	D	0.105	0.08473	N	2.23	0.18083	T	1.5	0.00825	N	0.203	0.22486	-1.0641	0.10760	T	0.040	0.17020	T	10	0.049448043	0.04535	T	0.005	0.13248	T	0.116	0.32463	0.24	0.17218	0.502379540653	0.49875	0.17753693370786508	0.17672	0.158857962076	0.17927	0.422160983086	0.28133	T	0.001545	0.00986	T	-0.355779	0.04375	T	-0.665963	0.07869	T	0.068106958811323	0.08383	T	0.763624	0.41012	T	0.08335611	0.19245	0.11272795	0.27202	0.08335611	0.19245	0.11272795	0.27202	-2.625	0.06695	T	.	.	0.081	0.10159	B	.;.	.;.	2.737217	0.35844	20.0	0.63283192413298528	0.07183	0.81260	0.40701	D	AEFDBI	0.402548	0.47659	N	-0.367276098798537	0.26642	1.455581	-0.12664447667486	0.34320	1.97284	0.999999215348063	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	4.705000	0.61527	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.2698:0.7302:0.0	13.913	0.63385	791	0.46100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	743.33	34	chr5	141646089	.	G	C	743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.353;SOR=0.869	GT:AD:DP:GQ:PL	0/1:21,24:45:99:757,0,677	18	0	1	0
chr5	148089545	148089545	A	G	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon7:c.A526G:p.T176A,SPINK5:NM_001127699:exon7:c.A526G:p.T176A,SPINK5:NM_006846:exon7:c.A526G:p.T176A	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1417784	Netherton_syndrome	MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0119017618999	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200801701	6.848e-06	6.84e-06	6.814e-06	6.883e-06	0.0002	3.46e-06	2.53e-06	4.366e-05	2.772e-05	0	0.0001	0	0	0	0.0002	1.8e-06	1.659e-05	1.16e-05	0	6.57e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.034	0.46910	D	0.017	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.004433	0.33751	N	0.136348	0.943325	0.26724	N	3.155	0.88459	M	3.47	0.05188	T	-2.36	0.54217	N	0.535	0.63798	-1.0117	0.26385	T	0.052	0.22230	T	10	0.4194218	0.56762	T	0.011902	0.29978	T	0.211	0.50185	0.499	0.58991	0.442160178816	0.43838	0.351339520916177	0.35047	0.478884378135	0.46947	0.404480934143	0.25692	T	0.162314	0.50693	T	-0.221705	0.17761	T	-0.330538	0.41410	T	0.724844932556152	0.41945	D	0.855914	0.54393	D	0.12349593	0.28997	0.13748847	0.32862	0.12349593	0.28997	0.13748847	0.32861	-8.368	0.63552	D	0.6493473419646145	0.72125	0.533	0.69489	A	.;.;.;.	.;.;.;.	4.356986	0.66971	25.0	0.99808675898128141	0.89264	0.97114	0.72771	D	AEFDGBI	0.388997	0.46839	N	0.61901151712136	0.74377	6.122546	0.617384181442149	0.76201	6.447725	0.999999993481299	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.180000	0.64886	11.128000	0.86723	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.913	0.57586	850	0.35610	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	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	2272.33	38	chr5	148089545	.	A	G	2272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.296;DP=940;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.709;SOR=0.63	GT:AD:DP:GQ:PL	0/1:121,100:221:99:2286,0,3004	18	0	1	0
chr5	150130603	150130603	G	A	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon8:c.C1111T:p.R371C,PDGFRB:NM_001355017:exon9:c.C820T:p.R274C,PDGFRB:NM_002609:exon9:c.C1303T:p.R435C	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.128320353724	.	.	9.92e-05	0	8.643e-05	0	0	6.024e-05	0	0.0004	7.76e-05	12	154602	rs747109578	8.08e-05	8.072e-05	7.358e-05	8.809e-05	0.0003	6.874e-05	6.427e-05	0.0001	9.463e-05	0	6.757e-05	0	0.0001	0	0.0003	8.097e-05	4.972e-05	0.0002	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0004	0.013	0.53900	D	0.064	0.44905	T	0.996	0.68779	D	0.54	0.48825	P	0.013397	0.28856	N	0.232848	0.966836	0.38555	D	2.045	0.56016	M	-1.02	0.76300	T	-1.4	0.34596	N	0.38	0.42149	-0.2721	0.75755	T	0.380	0.73662	T	10	0.3376115	0.50880	T	0.12832	0.81025	D	0.374	0.69273	.	.	0.59877475153	0.59557	0.487133571019552	0.48633	0.67298744556	0.59568	0.40035623312	0.25118	T	0.380317	0.74288	T	-0.18254	0.23358	T	-0.207834	0.53901	T	0.300993829965591	0.25045	T	0.960654	0.85269	D	0.15857181	0.35668	0.08823551	0.20560	0.15857181	0.35667	0.08823551	0.20559	-6.738	0.52096	T	0.10448994620587597	0.08179	0.317	0.54272	B	.	.	5.576267	0.92262	32	0.99915807950699997	0.98379	0.66582	0.33128	D	AEFGBCI	0.380760	0.46328	N	0.379466102029119	0.60312	4.218624	0.37711130994364	0.60158	4.200207	0.999995002281883	0.74766	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.584449	0.35598	0	.	.	4.87	3.9	0.44240	3.085000	0.49849	9.400000	0.80637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.128:0.5325:0.3394	6.710	0.22458	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1178.33	37	chr5	150130603	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.807;DP=727;ExcessHet=0;FS=6.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.098;SOR=0.385	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1192,0,1053	18	0	1	0
chr5	154905423	154905423	T	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon17:c.A2446G:p.K816E,GEMIN5:NM_015465:exon17:c.A2449G:p.K817E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0459097469011	.	.	8.246e-06	9.688e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762383080	9.599e-06	1.163e-05	5.458e-06	1.378e-05	0.0005	5.57e-06	4.36e-06	0.0001	7.557e-05	0	2.247e-05	0	2.526e-05	0	0.0005	6.306e-06	0	2.336e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.17	0.22833	T	0.064	0.44905	T	0.988	0.62325	D	0.76	0.56425	P	0.000031	0.55875	D	0.121494	0.768069	0.29467	N	2.42	0.70002	M	-0.81	0.73949	T	-0.14	0.09135	N	0.659	0.66873	-0.3251	0.74278	T	0.418	0.76449	T	10	0.6870242	0.71624	D	0.04591	0.62205	D	0.361	0.68141	0.415	0.45380	0.764286150549	0.76213	0.1706679554886014	0.16986	0.163586975449	0.18448	0.456630110741	0.32849	T	0.003213	0.02616	T	-0.0518712	0.44162	T	-0.130139	0.60960	T	0.302860349416733	0.25121	T	0.736726	0.35329	T	0.08711296	0.20272	0.1204303	0.29063	0.08711296	0.20272	0.1204303	0.29062	-3.322	0.14022	T	.	.	0.09	0.12607	B	.	.	3.882855	0.56447	23.7	0.99844968157005887	0.92489	0.91031	0.52725	D	AEFBI	0.138822	0.26023	N	0.48371340456182	0.66139	4.911616	0.49632639729583	0.67746	5.125458	0.996484076098522	0.34777	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	3.027000	0.49381	4.824000	0.45142	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1715:0.0:0.0:0.8285	9.256	0.36747	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	841.33	33	chr5	154905423	.	T	C	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.768;DP=731;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-1.516;SOR=0.605	GT:AD:DP:GQ:PL	0/1:62,43:105:99:855,0,1649	18	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,450:450:99:.:.:20098,1363,0:.	5	7	6	1
chr5	157651624	157651624	G	A	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.C455T:p.P152L,SOX30:NM_178424:exon1:c.C455T:p.P152L	.	430	1063	28	1	0	30	0.0139147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0023	0.00319489	0.0040	0.0007	0.0031	0.0001	0	0.0037	0.0048	0.0111	0.0037128	574	154602	rs13181859	0.0036	0.0036	0.0032	0.0040	0.0172	0.0035	0.0035	0.0144	0.0134	0.0011	0.0036	0.0064	5.039e-05	0.0001	0.0172	0.0031	0.0039	0.0120	0.0027	0.0027	0.0026	0.0029	0.0095	0.0025	0.0024	0.0073	0.0066	0.0006	0	0.0029	0.0066	0.0002	0.0002	0.0136	0.0038	0.0043	0.0095	0.003	0.68238	D	0.013	0.63109	D	0.386	0.34500	B	0.087	0.29615	B	0.846598	0.07032	N	1.098170	1	0.08975	N	1.7	0.43825	L	-4.48	0.97606	D	-1.11	0.28703	N	0.034	0.00942	0.071	0.83634	D	0.665	0.88385	D	10	0.00372082	0.00069	T	.	.	.	0.141	0.37795	.	.	0.391826234366	0.38797	0.07513399285387971	0.07449	.	.	0.48542112112	0.36805	T	0.005246	0.04687	T	-0.347995	0.04855	T	-0.262259	0.48599	T	0.00635331089597787	0.00071	T	0.69903	0.30897	T	0.031854466	0.03102	0.032174185	0.01913	0.031854466	0.03102	0.032174185	0.01913	-3.647	0.18539	T	0.10526239138024576	0.08327	0.105	0.19438	B	.;.	.;.	1.203029	0.15953	12.22	0.96791913573417354	0.31116	0.08009	0.13988	N	AEFDGBHCI	0.084375	0.17100	N	-0.889796775223051	0.11084	0.5330273	-0.930322483557214	0.11380	0.5794108	0.999986817774769	0.51787	0.648878	0.45929	0	0.491552	0.07993	0	0.596394	0.31383	0	0.603991	0.37454	0	.	.	4.09	2.25	0.27340	1.138000	0.31103	4.850000	0.45366	0.618000	0.50648	0.001000	0.13787	0.999000	0.35428	0.002000	0.04165	0.094:0.1461:0.3488:0.4112	2.685	0.04790	798	0.45050	.;.	.	.	.	.	.	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	0.014617	0.010309	0.023098	0.011696	0.000000	0.008621	0.012195	0.007576	0.02632	559.33	34	chr5	157651624	.	G	A	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=693;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.847;SOR=1.051	GT:AD:DP:GQ:PL	0/1:19,23:42:99:573,0,512	18	0	1	0
chr5	170911066	170911066	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon7:c.T692C:p.I231T	.	438	1050	33	1	0	35	0.0163934	.	.	.	2825565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.397	.	0.0016	0.00339457	0.0027	0.0002	0.0023	0.0010	0.0002	0.0024	0.0089	0.0068	0.0026067	403	154602	rs139981430	0.0027	0.0027	0.0025	0.0029	0.0348	0.0026	0.0026	0.0308	0.0293	0.0010	0.0031	0.0084	0.0006	0.0002	0.0348	0.0022	0.0052	0.0066	0.0025	0.0025	0.0023	0.0027	0.0071	0.0023	0.0022	0.0058	0.0054	0.0004	0	0.0069	0.0127	0.0012	0.0006	0.0272	0.0020	0.0086	0.0071	0.001	0.78490	D	0.002	0.79402	D	0.783	0.44368	P	0.585	0.50320	P	0.008731	0.30696	N	0.230401	0.994333	0.42244	D	3.085	0.87354	M	-0.37	0.68892	T	-4.33	0.76740	D	0.613	0.62950	-0.4056	0.71850	T	0.316	0.68602	T	10	0.012865514	0.00275	T	.	.	.	0.397	0.71163	.	.	0.724009593189	0.72157	0.29372483154100104	0.29285	0.0294932920179	0.03033	0.693579077721	0.66220	T	0.103817	0.41282	T	-0.255344	0.13451	T	-0.136531	0.60417	T	0.0728362507756266	0.09043	T	0.936906	0.76326	D	0.3997781	0.60717	0.35478574	0.61017	0.3997781	0.60717	0.35478574	0.61017	-9.123	0.68485	D	.	.	0.258	0.49275	B	.	.	3.749630	0.53743	23.4	0.99842135346216487	0.92229	0.95586	0.65314	D	AEFBI	0.621587	0.60622	D	0.470100085705451	0.65351	4.811737	0.454102214455443	0.64982	4.766303	0.873483247570202	0.25467	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.43	4.27	0.50009	6.251000	0.72393	4.266000	0.42826	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0744:0.0:0.9256	10.945	0.46508	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	0	0	1	0	0.024169	0.010101	0.014946	0.078947	0.050000	0.034483	0.012195	0.003788	0.02632	971.33	33	chr5	170911066	.	T	C	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.556;DP=716;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.597;SOR=0.606	GT:AD:DP:GQ:PL	0/1:53,43:96:99:985,0,1419	18	0	1	0
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T	.	426	1086	10	0	0	10	0.00458295	.	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006135	0.007576	0.05263	1654.83	38	chr5	177332169	.	C	T	1654.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.855;DP=782;ExcessHet=0.119;FS=2.879;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.753;SOR=0.939	GT:AD:DP:GQ:PL	0/1:33,34:67:99:732,0,831	17	0	2	0
chr6	2955546	2955546	-	C	exonic	SERPINB6	.	frameshift insertion	SERPINB6:NM_001271822:exon3:c.331dupG:p.E111Gfs*5,SERPINB6:NM_001271823:exon3:c.346dupG:p.E116Gfs*5,SERPINB6:NM_001271824:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001271825:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001297699:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001297700:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001374516:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001374517:exon3:c.157dupG:p.E53Gfs*5,SERPINB6:NM_004568:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001195291:exon4:c.301dupG:p.E101Gfs*5,SERPINB6:NM_001374515:exon4:c.301dupG:p.E101Gfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs763807318	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1716.29	40	chr6	2955546	.	T	TC	1716.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.391;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.279;SOR=0.674	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1730,0,1214	18	0	1	0
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H,RIOK1:NM_031480:exon16:c.G1556A:p.R519H	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.004076	0.008772	0.000000	0.000000	0.051829	0.011364	0.02632	1247.33	33	chr6	7414350	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=709;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.99;SOR=0.822	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1261,0,1077	18	0	1	0
chr6	8102499	8102499	G	T	exonic	EEF1E1	.	stopgain	EEF1E1:NM_001135650:exon1:c.C23A:p.S8X,EEF1E1:NM_004280:exon1:c.C23A:p.S8X	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.990796	0.07900	N	1.003610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367566	0.87843	D	0.290207	0.87688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.573646	0.95424	35	0.98329262862313482	0.40319	0.06298	0.12292	N	ALL	0.069767	0.13823	N	0.164231769225663	0.49489	3.148594	-0.206728342419082	0.31294	1.769671	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.9	-0.83	0.10247	-0.254000	0.08801	0.435000	0.18365	0.676000	0.76740	0.009000	0.18154	0.071000	0.22219	0.262000	0.23568	0.2835:0.2054:0.2727:0.2384	0.202	0.00136	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	899.33	39	chr6	8102499	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.487;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.595;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,40:72:99:913,0,695	18	0	1	0
chr6	16327642	16327642	-	TGCTGCTGCTGCTGCTGCTGCTGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.668_669insTCAGCATCAGCAGCAGCAGCAGCAGCAGCA:p.Q222_Q223insHQHQQQQQQQ,ATXN1:NM_000332:exon8:c.668_669insTCAGCATCAGCAGCAGCAGCAGCAGCAGCA:p.Q222_Q223insHQHQQQQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.304e-06	7.94e-06	1.523e-06	3.099e-06	0.0001	6.1e-07	1.7e-07	3.117e-05	1.663e-05	0	0	0	0.0001	0	0	0	0	0	7.824e-06	1.436e-05	0	1.62e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	862.15	41	chr6	16327642	.	C	CTGCTGCTGCTGCTGCTGCTGCTGATGCTGA	862.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.64;DP=1503;ExcessHet=0.119;FS=0.572;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=59.77;MQRankSum=-2.786;QD=5.79;ReadPosRankSum=-0.241;SOR=0.624	GT:AD:DP:GQ:PL	0/1:39,30:69:99:1097,0,1507	17	0	1	1
chr6	24847657	24847657	C	T	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_014722:exon13:c.G1112A:p.R371Q	.	428	1020	72	2	0	76	0.0359168	.	.	.	1259819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0015	0.00559105	0.0152	0.0005	0.0182	0.0069	0	0.0056	0.0084	0.0335	0.0026584	411	154602	rs150142878	0.0040	0.0038	0.0031	0.0049	0.0293	0.0039	0.0039	0.0283	0.0279	0.0002	0.0017	0.0093	0.0214	0.0005	0.0133	0.0017	0.0037	0.0293	0.0026	0.0026	0.0022	0.0029	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0016	0.0078	0.0085	0.0007	0.0136	0.0022	0.0047	0.0224	0.213	0.19430	T	0.617	0.07518	T	0.196	0.29532	B	0.011	0.15521	B	0.000106	0.50451	N	0.172465	0.597976	0.81001	D	.	.	.	3.01	0.09075	T	-0.37	0.13226	N	0.061	0.04188	-1.0266	0.21560	T	0.011	0.04227	T	10	0.0034193397	0.00060	T	.	.	.	0.050	0.13987	.	.	.	.	0.49750029559525477	0.49671	0.351907675512	0.37028	0.343460798264	0.16956	T	0.007796	0.07183	T	-0.586794	0.00175	T	-0.593353	0.13376	T	0.0158213447003142	0.00370	T	0.580242	0.20999	T	0.043653242	0.06841	0.056604296	0.10144	0.039717603	0.05537	0.056604296	0.10144	-4.878	0.35487	T	.	.	0.086	0.10883	B	.;.;.;.	.;.;.;.	2.191586	0.27940	17.63	0.99829388644124484	0.91112	0.92555	0.55987	D	AEFDGBIJ	0.661606	0.63177	D	-0.140728635558484	0.35630	2.049042	-0.0174606200207295	0.38927	2.300441	0.999999968527192	0.74766	0.487112	0.14033	0	0.379588	0.06130	0	8.03E-4	0.00125	3	0.564101	0.26826	0	.	.	4.92	4.05	0.46415	2.561000	0.45567	1.628000	0.27724	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.9092:0.0:0.0908	11.175	0.47821	793	0.45818	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010181	0.000000	0.000000	0.004348	0.000000	0.000000	0.016854	0.085106	0.05263	4710.83	33	chr6	24847657	.	C	T	4710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=935;ExcessHet=0.119;FS=4.85;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.656;SOR=0.945	GT:AD:DP:GQ:PL	0/1:89,85:174:99:2225,0,2226	17	0	2	0
chr6	26468201	26468201	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1053C:p.E351D,BTN2A1:NM_007049:exon8:c.G1236C:p.E412D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.018966421531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.211	0.26631	T	0.998	0.73220	D	0.976	0.73562	D	0.000092	0.51296	D	0.000000	1	0.08975	N	0.49	0.13296	N	-0.36	0.68754	T	-1.5	0.36586	N	0.068	0.04072	-0.8898	0.48952	T	0.226	0.59045	T	10	0.12924948	0.24591	T	0.018966	0.41201	T	0.146	0.38789	0.353	0.35246	0.392395365052	0.38849	0.1890947976805061	0.18827	0.0878000191581	0.09913	0.361539572477	0.19610	T	0.007996	0.07364	T	-0.212128	0.19080	T	-0.542484	0.18052	T	0.37070307135582	0.27824	T	0.0461954	0.00328	T	0.18370253	0.39651	0.12016162	0.29000	0.18370253	0.39651	0.12016162	0.28999	-5.348	0.40415	T	.	.	0.115	0.24833	B	.;.	.;.	1.653848	0.21100	15.05	0.98235129725680093	0.39431	0.16426	0.19383	N	AEFDBI	0.142318	0.26473	N	-0.466510824700501	0.23184	1.243201	-0.612477932372553	0.19173	1.027489	0.999878066652012	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	-0.887000	0.04260	0.127000	0.14995	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.0:1.0:0.0	11.481	0.49570	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY 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	276.33	40	chr6	26468201	.	G	C	276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.05;DP=1393;ExcessHet=0;FS=129.851;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.46;SOR=8.581	GT:AD:DP:GQ:PL	0/1:182,35:219:99:290,0,5728	18	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	562.16	40	chr6	26468202	.	G	C	562.16	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.473;DP=2850;ExcessHet=0.119;FS=174.636;InbreedingCoeff=-0.1351;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=2.08;SOR=9.883	GT:AD:DP:GQ:PL	0/1:163,52:225:99:523,0,5405	12	0	2	5
chr6	27865460	27865460	C	T	exonic	H2AC16	.	nonsynonymous SNV	H2AC16:NM_003511:exon1:c.C106T:p.R36C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.005316284863	.	0.000199681	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs576189710	8.688e-05	8.687e-05	5.173e-05	0.0001	0.0013	7.421e-05	6.97e-05	0.0011	0.0010	0	0	0	0	0	0.0009	9.893e-06	0	0.0013	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	0	0	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.007581	0.31319	U	0.000000	0.998781	0.45440	D	.	.	.	.	.	.	.	.	.	0.473	0.50868	-0.8805	0.49722	T	0.126	0.43236	T	7	0.04359317	0.03225	T	0.005316	0.13587	T	.	.	.	.	0.235664433957	0.23186	0.20928459393336907	0.20844	.	.	0.842448294163	0.88468	D	.	.	.	-0.0653304	0.42072	T	0.0980027	0.76775	D	0.257442534046546	0.23203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.90137	P	.	.	3.917177	0.57168	23.8	0.99592605522719768	0.73690	0.03428	0.08560	N	ALL	0.430150	0.49297	N	0.0453538418963781	0.43928	2.676342	0.0334121989157332	0.41277	2.477171	0.999999999998336	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	4.89	4.02	0.45968	1.404000	0.34232	0.600000	0.19915	0.596000	0.33519	0.701000	0.28635	0.025000	0.21018	0.134000	0.19723	0.1614:0.7555:0.0:0.0832	7.712	0.27849	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4746.33	33	chr6	27865460	.	C	T	4746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=1099;ExcessHet=0;FS=2.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.043;SOR=0.772	GT:AD:DP:GQ:PL	0/1:158,172:330:99:4760,0,3808	18	0	1	0
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V,GPX5:NM_003996:exon2:c.C230T:p.A77V	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009825	0.005051	0.009511	0.010638	0.050000	0.000000	0.009146	0.019231	0.05263	1295.83	33	chr6	28529593	.	C	T	1295.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.09;DP=740;ExcessHet=0.119;FS=3.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.357;SOR=1.089	GT:AD:DP:GQ:PL	0/1:48,26:74:99:630,0,1161	17	0	2	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,50:143:99:.:.:1257,0,2628:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,21:53:99:.:.:604,0,996:.	10	0	9	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1053	4289.43	172	chr6	31271103	.	C	T	4289.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.236;DP=2622;ExcessHet=0.7564;FS=2.051;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=54.29;MQRankSum=1.21;QD=8.38;ReadPosRankSum=0.539;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,37:127:99:.:.:1283,0,3609:.	15	0	4	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,14:173:99:0|1:31355338_T_C:109,0,6483:31355338	12	0	6	1
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:204,31:235:99:.:.:344,0,6376:.	11	0	8	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.07895	597.79	43	chr6	31356197	.	C	T	597.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1409;ExcessHet=0.3672;FS=24.956;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.29;MQRankSum=-0.368;QD=2.89;ReadPosRankSum=-1.551;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,10:79:99:0|1:31356192_G_A:206,0,2826:31356192	16	0	3	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|1:2,24:36:99:0|1:31356399_C_G:1338,336,348:31356399	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|1:47,19:66:99:0|1:31356711_C_CGGAG:656,0,1916:31356711	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|1:48,21:69:99:0|1:31356711_C_CGGAG:731,0,1952:31356711	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,21:69:99:0|1:31356711_C_CGGAG:731,0,1952:31356711	9	3	6	1
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|1:0,90:90:99:1|1:31356739_C_A:4050,271,0:31356739	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|1:0,72:136:99:0|1:31356827_T_C:5669,2655,2438:31356827	3	7	9	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,33:64:99:.:.:2832,1306,1164:.	7	1	11	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|1:91,41:132:99:0|1:31625601_T_C:762,0,2795:31625601	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|1:91,41:132:99:0|1:31625601_T_C:762,0,2795:31625601	1	0	16	2
chr6	31811671	31811671	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G302C:p.G101A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00853167666804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.031	0.53788	D	0.287	0.32229	B	0.276	0.40142	B	.	.	.	.	0.999998	0.58761	D	3.665	0.94315	H	3.69	0.04114	T	-3.06	0.63090	D	0.292	0.33030	-1.2036	0.00124	T	0.021	0.09056	T	9	0.23843056	0.40964	T	0.008532	0.22557	T	0.171	0.43483	0.534	0.64293	0.490976584422	0.48732	0.5396485020571034	0.53889	0.40947928161	0.41761	0.438640117645	0.30392	T	0.083404	0.37047	T	-0.140352	0.29833	T	-0.439383	0.28879	T	0.45025418698659	0.30806	T	.	.	.	0.39149976	0.60139	0.4857083	0.70233	0.39149976	0.60139	0.4857083	0.70233	-6.731	0.52043	T	.	.	0.165	0.36396	B	.	.	2.880917	0.38127	20.7	0.97353717228145775	0.33534	0.92184	0.55132	D	AEFBI	0.644902	0.62099	D	0.162173327532383	0.49390	3.139929	0.130714219106315	0.46126	2.863918	0.999918503271095	0.45857	0.615465	0.37627	0	0.624146	0.53433	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.36	2.55	0.29757	2.663000	0.46440	.	.	0.549000	0.26987	0.820000	0.29989	0.000000	0.08366	0.998000	0.85391	0.0:0.8088:0.0:0.1912	8.790	0.34003	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	.	.	.	.	.	.	.	.	0.02941	339.14	40	chr6	31811671	.	C	G	339.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.514;DP=2094;ExcessHet=0;FS=324.839;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.46;SOR=8.688	GT:AD:DP:GQ:PL	0/1:99,43:142:99:352,0,2275	16	0	1	2
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.05263	4260.83	33	chr6	32181363	.	C	T	4260.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=890;ExcessHet=0.119;FS=1.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.15;SOR=0.662	GT:AD:DP:GQ:PL	0/1:67,75:142:99:2199,0,1779	17	0	2	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	493.65	225	chr6	32443853	.	C	G	493.65	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.718;DP=3186;ExcessHet=0.7564;FS=285.125;InbreedingCoeff=-0.1324;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.58;SOR=11.58	GT:AD:DP:GQ:PL	0/1:144,54:198:99:255,0,3331	15	0	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,59:297:99:0|1:32521930_A_C:1893,0,7968:32521930	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,56:293:99:0|1:32521930_A_C:1773,0,7718:32521930	5	0	11	3
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|1:187,15:202:67:0|1:32522096_A_AAG:67,0,7807:32522096	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	1|0:0,13:109:99:0|1:32530184_T_A:4524,3923,4027:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:109:99:0|1:32530184_T_A:4518,3923,4111:32530184	2	5	11	1
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|1:101,131:232:99:0|1:32584162_G_T:5156,0,3847:32584162	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|1:105,138:243:99:0|1:32584162_G_T:5479,0,3994:32584162	3	2	14	0
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|1:196,57:253:99:0|1:32641430_C_T:1803,0,8058:32641430	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|1:196,57:253:99:0|1:32641430_C_T:1803,0,8058:32641430	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|1:209,55:264:99:0|1:32641430_C_T:1681,0,8557:32641430	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|1:209,55:264:99:0|1:32641430_C_T:1681,0,8557:32641430	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|1:255,49:304:99:0|1:32641476_G_A:1290,0,10560:32641476	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|1:271,55:326:99:0|1:32641476_G_A:1408,0,11137:32641476	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|1:151,28:179:99:0|1:32664917_C_A:721,0,6256:32664917	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|1:159,32:191:99:0|1:32664917_C_A:865,0,6523:32664917	12	0	7	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|1:78,32:110:99:0|1:32976813_G_C:371,0,2248:32976813	12	0	6	1
chr6	33320438	33320438	A	G	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon3:c.T968C:p.L323P,DAXX:NM_001141969:exon4:c.T1193C:p.L398P,DAXX:NM_001141970:exon4:c.T1229C:p.L410P,DAXX:NM_001350:exon4:c.T1193C:p.L398P	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0170306294313	.	.	0.0002	0.0002	0	0	0	0	0	0.0012	0.0001423	22	154602	rs748061004	9.92e-05	9.919e-05	2.995e-05	0.0002	0.0016	8.579e-05	8.048e-05	0.0014	0.0013	0	0	0	0	0	0.0002	0	8.28e-05	0.0016	7.881e-05	7.874e-05	2.57e-05	0.0001	0.0025	4.495e-05	3.511e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.047	0.45393	D	0.273	0.22154	T	0.917	0.50750	P	0.666	0.52990	P	0.172257	0.17341	N	0.526348	0.999233	0.22281	N	2.015	0.55033	M	.	.	.	-0.7	0.23590	N	0.22	0.27077	-1.0688	0.09679	T	0.066	0.27330	T	9	0.022503704	0.00564	T	0.017031	0.38558	T	0.112	0.31546	0.568	0.69034	0.348910101417	0.34498	0.18455198128968106	0.18373	0.575530254115	0.53546	0.468195021152	0.34432	T	0.169661	0.51712	T	-0.343212	0.05169	T	-0.295856	0.45159	T	0.0452869766068372	0.04653	T	.	.	.	0.26742703	0.49815	0.24692124	0.50212	0.26742703	0.49814	0.24692124	0.50211	-3.238	0.16784	T	.	.	0.093	0.23848	B	.;.;.;.	.;.;.;.	2.943886	0.39146	20.9	0.98958304362728	0.49285	0.17608	0.19910	N	ALL	0.108402	0.21566	N	-0.102456968997665	0.37285	2.167064	-0.132144322526288	0.34103	1.957951	0.999999999997341	0.74766	0.730579	0.87903	0	0.581341	0.33841	0	0.696144	0.63334	0	0.648885	0.59868	0	.	.	4.56	2.08	0.26079	0.627000	0.24200	3.291000	0.37306	0.727000	0.85467	0.157000	0.23755	0.988000	0.31051	0.741000	0.35472	0.7359:0.0:0.0951:0.1689	4.655	0.11996	583	0.69484	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.000000	0.05263	2596.83	35	chr6	33320438	.	A	G	2596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.374;DP=857;ExcessHet=0.119;FS=3.112;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.24;SOR=0.516	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1306,0,1146	17	0	2	0
chr6	33403774	33403774	G	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G401T:p.R134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0938847124795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.36	0.67893	M	-0.88	0.74689	T	-3.83	0.93621	D	0.491	0.52475	-0.1879	0.77981	T	0.414	0.76129	T	10	0.66775185	0.70528	D	0.093885	0.76154	D	0.524	0.79825	0.295	0.25881	0.875187643895	0.87397	0.7327155133154474	0.73216	1.32788030423	0.83588	0.497574865818	0.38490	T	0.092884	0.39097	T	0.213775	0.75186	D	0.069297	0.74862	D	0.989866852760315	0.80083	D	0.874613	0.58533	D	0.60970396	0.73212	0.36977506	0.62241	0.60970396	0.73213	0.36977506	0.62240	-6.213	0.48028	T	.	.	0.592	0.76878	P	.;.	.;.	4.984042	0.82574	27.8	0.99857873739321157	0.93639	0.94054	0.59974	D	AEFGBCI	0.773814	0.70771	D	0.644919707048191	0.76039	6.413767	0.651927349884133	0.78754	6.940415	0.999999969568661	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	6.161000	0.71682	11.486000	0.92909	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	16.578	0.84557	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1353.33	35	chr6	33403774	.	G	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=808;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.06;SOR=0.761	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1367,0,1993	18	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,20:37:99:0|1:34528877_G_C:235,0,128:34528877	3	0	11	5
chr6	34859063	34859063	C	T	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon14:c.C2707T:p.L903F	.	427	1093	2	0	0	2	0.000914077	.	.	.	2713153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0111424517572	.	.	1.667e-05	0	0	0	0	0	0.0011	6.066e-05	1.29e-05	2	154602	rs764113068	4.241e-05	4.241e-05	3.267e-05	5.225e-05	0.0003	3.376e-05	3.065e-05	7.124e-05	5.482e-05	0	0	0	0	0	0.0003	4.047e-05	6.623e-05	0.0001	6.565e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.172	0.22660	T	0.168	0.30631	T	0.997	0.70673	D	0.938	0.67350	D	0.000760	0.42006	D	0.209883	0.999885	0.50402	D	2.39	0.68882	M	2.9	0.10101	T	-1.56	0.37759	N	0.276	0.31253	-1.0592	0.11956	T	0.033	0.14117	T	10	0.1976195	0.35700	T	0.011142	0.28456	T	0.190	0.46781	.	.	0.500363902356	0.49674	0.30845987972984423	0.30758	0.332810428697	0.35327	0.519379258156	0.41539	T	0.093349	0.39192	T	-0.264508	0.12377	T	-0.487273	0.23677	T	0.288464844026131	0.24525	T	0.89741	0.64114	D	0.08091376	0.18565	0.08584753	0.19850	0.08091376	0.18565	0.08584753	0.19850	-4.585	0.31982	T	.	.	0.170	0.37293	B	.;.	.;.	3.340778	0.46033	22.2	0.9984550105552944	0.92576	0.87156	0.46611	D	AEFBCI	0.225118	0.34925	N	0.465536225764278	0.65090	4.778935	0.507108163026559	0.68467	5.224087	0.999923083327421	0.46280	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.674467	0.66132	0	.	.	5.7	5.7	0.88690	2.661000	0.46423	2.735000	0.34419	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.834	0.96643	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2156.33	43	chr6	34859063	.	C	T	2156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=1.24;SOR=0.676	GT:AD:DP:GQ:PL	0/1:63,71:134:99:2170,0,1745	18	0	1	0
chr6	35455937	35455937	G	A	exonic	FANCE	.	nonsynonymous SNV	FANCE:NM_021922:exon2:c.G439A:p.G147R	Fanconi anemia, complementation group E, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0042553343621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.009	0.66756	D	0.025	0.19245	B	0.016	0.17743	B	0.848878	0.08977	N	0.934808	1	0.08975	N	1.845	0.48678	L	0.8	0.48769	T	-2.12	0.48184	N	0.126	0.11912	-0.9798	0.35048	T	0.044	0.19029	T	10	0.125007	0.23750	T	0.004255	0.10278	T	0.043	0.11576	0.414	0.45216	0.620183206235	0.61710	0.16141212649201928	0.16062	0.161341295611	0.18212	0.43249759078	0.29550	T	0.137552	0.47056	T	-0.187832	0.22578	T	-0.507584	0.21563	T	0.10792071905652	0.13206	T	0.69743	0.30707	T	0.07010363	0.15412	0.10175142	0.24366	0.07010363	0.15412	0.10175142	0.24366	-3.949	0.23038	T	0.2327601318376261	0.31505	0.134	0.29032	B	.	.	2.332562	0.29881	18.26	0.99677265506432511	0.78977	0.07335	0.13357	N	AEFBI	0.048953	0.08407	N	-0.749575356828061	0.14646	0.7312667	-0.751040044502698	0.15697	0.8268293	0.303377406100183	0.19212	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.37	3.59	0.40253	1.404000	0.34232	2.470000	0.32893	0.671000	0.69459	0.033000	0.20612	0.082000	0.22400	0.008000	0.08271	0.2558:0.0:0.7442:0.0	7.678	0.27663	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1010.33	64	chr6	35455937	.	G	A	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1198;ExcessHet=0;FS=3.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.221;SOR=0.338	GT:AD:DP:GQ:PL	0/1:35,33:68:99:1024,0,1047	18	0	1	0
chr6	36721879	36721879	C	T	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1745T:p.P582L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0006	0	0	0	0	0	0	0.0088	9.06e-05	14	154602	rs569928527	0.0004	0.0003	0.0004	0.0004	0.0110	0.0004	0.0004	0.0086	0.0077	0.0004	0.0006	0.0014	7.535e-05	0.0001	0.0110	0.0003	0.0005	0.0021	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0005	0.0004	0.0004	0	0.0004	0.0006	0.0002	0	0	0.0006	0.0009	0.0012	.	.	.	0.376	0.16182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.004548669	0.00094	T	.	.	.	.	.	.	.	0.42069145522	0.41685	0.17414570630299972	0.17333	.	.	0.294509768486	0.09585	T	.	.	.	-0.453365	0.01079	T	-0.55694	0.16665	T	.	.	.	0.461354	0.13375	T	0.040594134	0.05823	0.07634969	0.16900	0.040594134	0.05823	0.07634969	0.16900	-4.264	0.27669	T	.	.	0.077	0.06205	B	.	.	-0.448802	0.02037	0.184	0.8909027519517525	0.18503	0.01790	0.05598	N	AEFDBCI	0.035238	0.04501	N	.	.	.	.	.	.	0.90534829990739	0.26202	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	3.88	-4.1	0.03674	-1.637000	0.02117	-10.830000	0.00661	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1494:0.216:0.0:0.6346	5.862	0.18006	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3615.83	59	chr6	36721879	.	C	T	3615.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.37;DP=1254;ExcessHet=0.119;FS=2.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.102;SOR=0.857	GT:AD:DP:GQ:PL	0/1:53,75:128:99:1873,0,1154	17	0	2	0
chr6	51648091	51648091	G	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon63:c.C11338T:p.P3780S	Polycystic kidney and hepatic disease, Autosomal recessive	1	1518	2	1	0	4	0.00131579	.	.	.	212523	PKHD1-related_disorder|not_specified|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.278	0.0439955096572	0.0013	0.000399361	0.0016	0.0005	0.0010	0	0	0.0025	0	0.0003	0.0015847	245	154602	rs41273722	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0012	0.0001	2.521e-05	0.0004	0.0010	0.0026	0.0018	0.0004	0.0013	0.0013	0.0014	0.0013	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0.0011	0.0012	0.0003	0	0.0003	0	0.0024	0.0028	0	0.213	0.19430	T	0.0	0.92824	D	0.999	0.77913	D	0.927	0.66185	D	0.000116	0.50451	D	0.084638	0.68822	0.33300	D	2.175	0.60977	M	-1.93	0.84842	D	-1.69	0.40274	N	0.452	0.48963	0.092	0.84031	D	0.632	0.87110	D	10	0.02890262	0.01019	T	0.043996	0.61267	D	0.278	0.59497	.	.	0.966569475504	0.96620	0.46922739786967055	0.46841	0.195989524406	0.21957	0.384402215481	0.22879	T	0.183789	0.53624	T	-0.30049	0.08614	T	-0.208087	0.53879	T	0.0830832272768021	0.10377	T	0.816518	0.47234	T	0.082296066	0.18951	0.1283553	0.30881	0.082296066	0.18951	0.1283553	0.30880	-2.541	0.06068	T	0.5877003342696331	0.65449	0.129	0.27702	B	.	.	3.460068	0.48218	22.6	0.99763191342688695	0.85254	0.92650	0.56212	D	AEFBI	0.328658	0.42925	N	0.421040448651109	0.62581	4.476246	0.356432187268895	0.58895	4.063194	0.999998516581733	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	3.725000	0.54697	8.503000	0.77365	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	17.415	0.87389	640	0.64132	.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	648.33	34	chr6	51648091	.	G	A	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.199;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,28:68:99:662,0,897	18	0	1	0
chr6	52050161	52050161	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2275A:p.A759T,PKHD1:NM_170724:exon22:c.G2275A:p.A759T	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1523786	Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.101034951189	.	.	7.423e-05	0	8.649e-05	0	0	1.5e-05	0	0.0004	5.82e-05	9	154602	rs550730673	4.72e-05	4.788e-05	3.131e-05	6.326e-05	0.0006	3.794e-05	3.476e-05	0.0005	0.0004	0	0	0	0	0	0.0004	1.439e-05	1.656e-05	0.0006	2.628e-05	2.627e-05	1.285e-05	4.033e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.34800	T	0.337	0.31125	T	0.915	0.50599	P	0.395	0.44317	B	0.113628	0.19308	N	0.511935	1	0.08975	N	2.215	0.62545	M	-2.13	0.87989	D	-1.1	0.28497	N	0.265	0.30118	-0.5660	0.66173	T	0.396	0.74887	T	10	0.10588005	0.19592	T	0.101035	0.77368	D	0.318	0.64008	0.309	0.28128	0.947683704956	0.94713	0.3973606380263486	0.39651	0.213808415534	0.23901	0.328379452229	0.14689	T	0.249297	0.61924	T	-0.236613	0.15783	T	-0.210062	0.53690	T	0.130280204329559	0.15408	T	0.772023	0.40277	T	0.09555055	0.22489	0.09528257	0.22592	0.09555055	0.22489	0.09528257	0.22591	-3.455	0.15807	T	0.7175199945611166	0.79831	0.111	0.21578	B	.;.	.;.	2.023647	0.25718	16.86	0.9971364310916101	0.81493	0.03749	0.09053	N	AEFBCI	0.078671	0.15877	N	0.0653614029288907	0.44851	2.751812	0.0267083913233828	0.40960	2.452874	0.999677444377244	0.41644	0.525926	0.21836	0	0.615948	0.52940	0	0.491513	0.07944	0	0.584449	0.35598	0	.	.	5.64	3.82	0.43153	1.517000	0.35474	2.287000	0.31935	0.599000	0.40250	0.016000	0.19238	0.855000	0.27430	0.886000	0.42526	0.0:0.5619:0.341:0.0971	7.963	0.29245	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.02632	1020.33	38	chr6	52050161	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.307;DP=788;ExcessHet=0;FS=10.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.56;SOR=1.733	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1034,0,2015	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|1:152,40:192:99:0|1:52403967_A_G:479,0,5625:52403967	5	0	6	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	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	.	.	.	.	.	.	.	.	0.08824	1704.79	284	chr6	52403969	.	C	G	1704.79	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-6.531;DP=2551;ExcessHet=1.3;FS=133.981;InbreedingCoeff=-0.1889;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=2.81;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,40:194:99:0|1:52403967_A_G:474,0,5639:52403967	14	0	3	2
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	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	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	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	.	.	.	.	.	.	.	.	0.1176	1871.38	277	chr6	52403970	.	C	G	1871.38	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,40:193:99:0|1:52403967_A_G:477,0,5617:52403967	13	0	4	2
chr6	52757892	52757892	A	G	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.T56C:p.I19T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2714529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.00656770476761	.	.	0.0001	0	8.688e-05	0	0	2.998e-05	0	0.0008	0.0001035	16	154602	rs747060432	6.706e-05	7.935e-05	5.991e-05	7.428e-05	0.0006	5.63e-05	5.173e-05	0.0004	0.0004	0	0	7.659e-05	2.52e-05	0	0.0003	3.148e-05	0.0001	0.0006	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0006	1.26e-05	7.98e-06	0.0002	9.003e-05	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.128	0.26965	T	0.08	0.41913	T	0.027	0.19556	B	0.105	0.31087	B	0.000000	0.84330	D	0.000000	0.59003	0.32448	D	2.675	0.78361	M	3.23	0.06931	T	-3.51	0.68298	D	0.484	0.51851	-1.0393	0.17526	T	0.012	0.04653	T	10	0.25778633	0.43197	T	0.006568	0.17329	T	0.169	0.43123	0.768	0.89530	0.0716867268079	0.06686	0.373802791019622	0.37294	0.033468374923	0.03503	0.378241240978	0.22006	T	0.017718	0.14410	T	-0.465001	0.00914	T	-0.549341	0.17389	T	0.137846069396147	0.16087	T	0.654634	0.26482	T	0.4966557	0.66898	0.27781323	0.53736	0.4966557	0.66899	0.27781323	0.53735	-7.624	0.58478	D	.	.	0.466	0.62970	A	.	.	1.872924	0.23790	16.15	0.61624598306611167	0.06756	0.28739	0.23635	N	AEFDBCIJ	0.265872	0.38291	N	-1.00436705855075	0.08512	0.3994168	-1.07554643859475	0.08183	0.4012539	1.44166718235883E-4	0.05573	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-1.99	0.07047	1.570000	0.36048	0.642000	0.20329	-2.038000	0.00425	0.238000	0.24727	0.000000	0.08366	0.834000	0.39329	0.8071:0.0:0.1929:0.0	8.641	0.33140	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1189.33	95	chr6	52757892	.	A	G	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=1016;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-9.315;QD=3.76;ReadPosRankSum=-4.011;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,54:316:99:0|1:52757892_A_G:1203,0,10185:52757892	18	0	1	0
chr6	52757913	52757913	A	G	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.T35C:p.I12T	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00366220123888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380688899	5.474e-06	1.505e-05	4.085e-06	6.877e-06	4.475e-05	2.36e-06	1.7e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	4.498e-06	0	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.054	0.38633	T	0.121	0.35840	T	0.0	0.02946	B	0.047	0.24832	B	0.039160	0.24203	N	0.426923	0.999883	0.19853	N	1.11	0.28643	L	3.19	0.07353	T	1.25	0.01011	N	0.098	0.07949	-1.0325	0.19650	T	0.008	0.02968	T	10	0.10167682	0.18592	T	0.003662	0.08433	T	0.065	0.18881	0.599	0.72984	0.0482279557977	0.04254	0.1677529029134083	0.16695	0.0287988597592	0.02965	0.380772054195	0.22365	T	0.006244	0.05676	T	-0.487303	0.00672	T	-0.756226	0.03249	T	0.998498439788818	0.94310	D	0.451355	0.12777	T	0.16489743	0.36727	0.12937422	0.31108	0.16489743	0.36726	0.12937422	0.31107	-4.11	0.25438	T	.	.	0.367	0.57652	A	.	.	-0.702669	0.01315	0.071	0.53488997933888349	0.04950	0.05361	0.11221	N	AEDBCI	0.167760	0.29446	N	-1.56593304911493	0.01444	0.06297749	-1.73898059033453	0.00975	0.0436957	0.00478147899335476	0.10711	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-5.62	0.02284	-1.607000	0.02173	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1042:0.7593:0.1365:0.0	12.296	0.54170	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	95	chr6	52757913	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=968;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-11.05;QD=2.51;ReadPosRankSum=-5.282;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,35:272:99:0|1:52757892_A_G:696,0,9745:52757892	18	0	1	0
chr6	52757914	52757914	T	C	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.A34G:p.I12V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00263602755969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398353969	5.474e-06	1.437e-05	4.085e-06	6.878e-06	4.475e-05	2.36e-06	1.7e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	4.498e-06	0	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.051	0.47828	T	0.0	0.02946	B	0.002	0.06944	B	0.039160	0.24203	N	0.426923	0.999988	0.18198	N	1.14	0.29013	L	3.26	0.06681	T	0.78	0.01921	N	0.034	0.00942	-0.9276	0.44487	T	0.005	0.01688	T	10	0.13636348	0.25944	T	0.002636	0.05349	T	0.051	0.14325	0.506	0.60078	0.167679373172	0.16340	0.09843696555475938	0.09774	0.018240306212	0.01780	0.372746825218	0.21225	T	0.004173	0.03581	T	-0.495006	0.00610	T	-0.767291	0.02858	T	0.0488017947459253	0.05288	T	0.667233	0.27634	T	0.14516588	0.33288	0.107254	0.25816	0.14516588	0.33288	0.107254	0.25815	-2.219	0.04133	T	.	.	0.139	0.30318	B	.	.	1.146080	0.15336	11.77	0.59695497866895042	0.06285	0.03416	0.08541	N	AEDBCI	0.145792	0.26908	N	-1.14301733465358	0.05896	0.2699907	-1.1295456302176	0.07140	0.346218	4.98053357278938E-4	0.07150	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	1.86	0.24489	1.902000	0.39479	-1.329000	0.05702	-0.327000	0.05804	0.796000	0.29669	0.000000	0.08366	0.033000	0.13494	0.0:0.8766:0.0:0.1234	8.806	0.34097	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	95	chr6	52757914	.	T	C	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=967;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-11.03;QD=2.53;ReadPosRankSum=-5.45;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,35:271:99:0|1:52757892_A_G:699,0,9723:52757892	18	0	1	0
chr6	52757919	52757919	G	A	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.C29T:p.S10F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00966809649333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296009657	4.79e-06	1.026e-05	4.085e-06	5.502e-06	4.475e-05	1.99e-06	1.28e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	3.598e-06	0	0	0	6.567e-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	0.001	0.04355	B	0.005706	0.32572	N	0.319806	0.999791	0.20333	N	-3.64	0.00002	N	3.58	0.04594	T	4.54	0.00035	N	0.11	0.09631	-1.0130	0.25975	T	0.000	0.00114	T	10	0.026691586	0.00830	T	0.009668	0.25267	T	0.165	0.42395	0.569	0.69167	0.0666544352282	0.05500	0.2564721727467207	0.25561	0.0195091984918	0.01909	0.457134485245	0.32918	T	0.006861	0.06286	T	-0.528902	0.00390	T	-0.815979	0.01535	T	0.0528101238614547	0.05987	T	0.10299	0.00764	T	0.119881645	0.28219	0.053402666	0.08989	0.119881645	0.28219	0.053402666	0.08989	2.825	0.00025	T	.	.	0.324	0.54804	B	.	.	-1.016295	0.00748	0.023	0.38731783933997643	0.02630	0.04033	0.09471	N	AEFDBCI	0.201875	0.32851	N	-2.02052993869183	0.00191	0.008187403	-1.88428769989629	0.00526	0.02330684	0.00539344888058985	0.10925	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-2.39	0.06223	0.132000	0.15716	-0.554000	0.08512	-2.735000	0.00201	0.034000	0.20669	0.000000	0.08366	0.031000	0.13245	0.5698:0.0:0.1074:0.3228	3.606	0.07587	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	391.33	95	chr6	52757919	.	G	A	391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=952;ExcessHet=0;FS=5.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.18;MQRankSum=-12.6;QD=1.54;ReadPosRankSum=-3.79;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,26:254:99:0|1:52757892_A_G:405,0,9414:52757892	18	0	1	0
chr6	56463060	56463060	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon82:c.G15115A:p.V5039M,DST:NM_183380:exon92:c.G16093A:p.V5365M,DST:NM_001144770:exon93:c.G16213A:p.V5405M,DST:NM_001144769:exon95:c.G16627A:p.V5543M,DST:NM_001374722:exon101:c.G22984A:p.V7662M,DST:NM_001374734:exon101:c.G23011A:p.V7671M,DST:NM_001374736:exon102:c.G23056A:p.V7686M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	635013	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00355669701756	.	.	5.834e-05	0	0	0	0	7.515e-05	0	0.0001	4.53e-05	7	154602	rs774799170	1.441e-05	1.915e-05	1.229e-05	1.655e-05	7.001e-05	9.26e-06	7.86e-06	3.011e-05	2.048e-05	2.999e-05	0	0	0	0	0	1.172e-05	1.661e-05	7.001e-05	3.288e-05	3.284e-05	1.286e-05	5.384e-05	7.249e-05	1.262e-05	7.99e-06	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	2.94e-05	0	0	0.126	0.48186	T	.	.	.	0.029	0.19866	B	0.021	0.19346	B	.	.	.	.	.	.	.	.	.	.	1.21	0.62318	T	-0.44	0.42763	N	0.199	0.26354	-1.0596	0.11855	T	0.022	0.09284	T	8	0.12675413	0.24100	T	0.003557	0.08123	T	0.036	0.09122	0.331	0.31681	0.521601789199	0.51804	0.18721921032867245	0.18639	0.477105544742	0.46828	0.474133640528	0.35249	T	.	.	.	-0.316887	0.07156	T	-0.488412	0.23558	T	0.146956504908546	0.16858	T	0.814119	0.46793	T	.	.	.	.	.	.	.	.	-4.839	0.35042	T	.	.	.	.	.	.;.;.	.;.;.	2.541744	0.32879	19.17	0.81926581531512643	0.13930	0.95797	0.66195	D	AEFBI	0.469228	0.51570	N	-0.104253315166442	0.37206	2.161394	0.0677670659886848	0.42938	2.606149	0.246355768357258	0.18630	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.79	4.93	0.64394	2.162000	0.41994	2.744000	0.34485	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7995:0.1312:0.0693	10.644	0.44799	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1664.33	35	chr6	56463060	.	C	T	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=792;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-2.322;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,46:112:99:0|1:56463051_C_T:1678,0,2613:56463051	18	0	1	0
chr6	56494012	56494012	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon64:c.A12523G:p.K4175E,DST:NM_001374730:exon73:c.A13174G:p.K4392E,DST:NM_183380:exon74:c.A13501G:p.K4501E,DST:NM_001144770:exon75:c.A13621G:p.K4541E,DST:NM_001144769:exon77:c.A14035G:p.K4679E,DST:NM_001374729:exon78:c.A19432G:p.K6478E,DST:NM_001374722:exon83:c.A20392G:p.K6798E,DST:NM_001374734:exon83:c.A20419G:p.K6807E,DST:NM_001374736:exon83:c.A20392G:p.K6798E	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	15	1502	4	1	0	6	0.00199336	0.7613	0.464	.	954570	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.0072208139392	.	0.000399361	0.0001	0.0001	8.857e-05	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs560268832	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.964e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0005	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.715e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0002	0.03	0.55530	D	.	.	.	0.863	0.47474	P	0.53	0.48544	P	0.000017	0.62929	D	0.000000	.	.	.	.	.	.	0.71	0.51228	T	-3.66	0.71397	D	0.853	0.87157	-0.8027	0.54985	T	0.203	0.56101	T	9	0.4870381	0.60770	T	0.007221	0.19143	T	0.264	0.57741	.	.	0.663738440163	0.66091	0.35253684350758935	0.35167	0.654754854923	0.58542	0.598420202732	0.52681	T	0.067923	0.33326	T	-0.0619279	0.42606	T	-0.00672192	0.69898	D	0.386528879404068	0.28432	T	0.976802	0.93989	D	.	.	.	.	.	.	.	.	-11.223	0.80867	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.820908	0.55171	23.6	0.99073008827528086	0.51762	0.98642	0.85044	D	AEFBI	0.925971	0.90635	D	0.681193063905235	0.78401	6.864013	0.705328904161284	0.82785	7.853415	0.999999976437788	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	7.207000	0.77409	7.843000	0.70613	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.281	0.82505	160	0.93798	.;.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1017.33	34	chr6	56494012	.	T	C	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.356;SOR=0.622	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1031,0,1004	18	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N,CD109:NM_133493:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	56.77	33	chr6	73730508	.	G	C	56.77	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.537;DP=2014;ExcessHet=0;FS=285.7;InbreedingCoeff=-0.1382;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=2.49;SOR=9	GT:AD:DP:GQ:PL	0/1:115,43:165:67:67,0,1970	11	0	1	7
chr6	75126363	75126363	A	G	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon24:c.T2956C:p.Y986H,COL12A1:NM_004370:exon39:c.T6448C:p.Y2150H	Bethlem myopathy 2	426	1094	2	0	0	2	0.000913242	.	.	.	455918	not_provided|not_specified|Bethlem_myopathy_2|Ullrich_congenital_muscular_dystrophy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.678	0.090501253264	0.0003	.	0.0003	0	0.0004	0	0	0.0004	0	0.0004	0.0002652	41	154602	rs200450866	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0029	0.0025	0.0001	0.0005	0.0006	0	1.877e-05	0.0042	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.825e-05	0	0.0012	0.0009	0	9.414e-05	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	0.999998	0.58761	D	2.87	0.83286	M	0.01	0.62459	T	-2.72	0.62151	D	0.896	0.89577	0.001	0.82287	D	0.434	0.77459	T	10	0.7310128	0.74298	D	0.090501	0.75530	D	0.678	0.88157	.	.	0.805575891683	0.80375	0.8442054365124602	0.84381	1.56905615492	0.88162	0.758734583855	0.75742	T	0.192915	0.71387	T	0.0185476	0.54185	T	0.129415	0.78853	D	0.210856601595879	0.20998	T	0.893011	0.63503	D	0.8702027	0.88877	0.85091674	0.91565	0.8702027	0.88878	0.85091674	0.91566	-8.954	0.67400	D	0.7105453990594863	0.79071	0.831	0.79568	P	.;.;.;.;.	.;.;.;.;.	5.007754	0.83134	28.0	0.99815660112786253	0.89885	0.99535	0.97177	D	AEBI	0.937992	0.93654	D	0.903090271760787	0.91909	11.130	0.859243371779087	0.93545	12.11364	0.999999999999858	0.74766	0.75658	0.98901	0	0.573888	0.26702	0	0.618467	0.43123	0	0.656636	0.63459	0	.	.	5.7	5.7	0.88690	8.947000	0.92735	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	15.974	0.79840	856	0.34373	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	962.33	34	chr6	75126363	.	A	G	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=705;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.217;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,40:74:99:976,0,734	18	0	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.05263	1887.83	37	chr6	84171654	.	C	T	1887.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.437;DP=809;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=1.14;SOR=0.674	GT:AD:DP:GQ:PL	0/1:53,38:91:99:759,0,1142	17	0	2	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,27:86:99:.:.:205,0,668:.	6	0	9	4
chr6	108663854	108663854	G	A	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.G1021A:p.A341T,FOXO3:NM_201559:exon3:c.G1021A:p.A341T	.	426	1053	43	0	0	43	0.0200093	.	.	.	710103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0032	0.00259585	0.0049	0.0012	0.0098	0	0.0003	0.0055	0.0132	0.0054	0.0043855	678	154602	rs145259784	0.0033	0.0033	0.0031	0.0035	0.0293	0.0032	0.0032	0.0257	0.0243	0.0012	0.0066	0.0474	0	0.0004	0.0293	0.0019	0.0070	0.0056	0.0038	0.0038	0.0036	0.0040	0.0086	0.0035	0.0034	0.0074	0.0070	0.0010	0	0.0086	0.0475	0.0002	9.413e-05	0.0272	0.0026	0.0137	0.0044	0.038	0.42783	D	0.293	0.20811	T	0.204	0.29802	B	0.055	0.25995	B	0.004197	0.34013	N	0.343008	1	0.08975	N	0.99	0.25021	L	-2.64	0.90147	D	-0.48	0.15379	N	0.36	0.40665	-0.6141	0.64234	T	0.381	0.73744	T	10	0.007044345	0.00160	T	.	.	.	0.131	0.35738	.	.	0.855702866044	0.85431	0.2028257584335261	0.20199	.	.	0.449852347374	0.31923	T	0.418943	0.77113	T	-0.347946	0.04857	T	-0.268572	0.47965	T	0.00784643585367514	0.00092	T	0.810019	0.46084	T	0.02431428	0.01252	0.060943298	0.11689	0.02431428	0.01251	0.060943298	0.11688	-4.51	0.31019	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.216561	0.28284	17.75	0.97082658405871858	0.32289	0.55788	0.29952	D	AEFDGBI	0.134308	0.25428	N	-0.470631801392504	0.23047	1.234884	-0.424609406794093	0.24278	1.328551	0.984320181979407	0.30699	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	2.120000	0.41591	4.937000	0.46179	0.676000	0.76740	0.765000	0.29300	1.000000	0.68203	0.027000	0.12703	0.0:0.1233:0.6517:0.225	11.799	0.51388	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	0	0	1	0	0.030242	0.040404	0.039402	0.026316	0.000000	0.025862	0.027607	0.018939	0.02632	1696.33	45	chr6	108663854	.	G	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=784;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-0.726;QD=11.86;ReadPosRankSum=-0.82;SOR=0.863	GT:AD:DP:GQ:PL	0/1:79,64:143:99:1710,0,2219	18	0	1	0
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q,ZBTB24:NM_014797:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	1	1498	23	0	0	23	0.00761842	.	.	.	246995	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_specified|not_provided|Kabuki_syndrome_1	MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	0.012588	0.010101	0.008152	0.017544	0.000000	0.025862	0.021341	0.003788	0.02632	1690.33	35	chr6	109481881	.	C	T	1690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=728;ExcessHet=0;FS=2.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.951;SOR=0.444	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1704,0,1137	18	0	1	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.05263	3835.83	53	chr6	111580262	.	G	T	3835.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.024;DP=1617;ExcessHet=0.119;FS=4.867;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.932;SOR=1.01	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1811,0,1851	17	0	2	0
chr6	128083813	128083813	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon8:c.G1090A:p.V364I,PTPRK:NM_001135648:exon9:c.G1477A:p.V493I,PTPRK:NM_001291981:exon9:c.G1477A:p.V493I,PTPRK:NM_001291982:exon9:c.G1477A:p.V493I,PTPRK:NM_001291984:exon9:c.G1477A:p.V493I,PTPRK:NM_002844:exon9:c.G1477A:p.V493I	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00519169	0.0070	0.0004	0.0011	0.0001	0.0044	0.0039	0.0078	0.0326	0.0062548	967	154602	rs61756668	0.0048	0.0048	0.0038	0.0058	0.0340	0.0047	0.0047	0.0329	0.0325	0.0005	0.0009	0.0060	0.0002	0.0038	0.0090	0.0031	0.0050	0.0340	0.0037	0.0037	0.0030	0.0044	0.0312	0.0034	0.0033	0.0271	0.0256	0.0005	0.0033	0.0009	0.0063	0.0004	0.0041	0.0102	0.0044	0.0024	0.0312	0.742	0.03787	T	0.935	0.02804	T	0.974	0.59044	D	0.973	0.76113	D	0.000004	0.62929	D	0.061993	0.999777	0.48980	D	0.495	0.13372	N	3.03	0.08898	T	-0.19	0.09965	N	0.107	0.14905	-0.9453	0.41764	T	0.019	0.08079	T	10	0.007073939	0.00161	T	.	.	.	0.113	0.31778	.	.	0.174091166621	0.17034	0.16846825306963933	0.16766	1.1496403519	0.79166	0.412784636021	0.26842	T	0.026472	0.22997	T	-0.532851	0.00370	T	-0.513113	0.20995	T	0.0355503563601861	0.02903	T	.	.	.	0.033219963	0.03497	0.04853635	0.07229	0.033219963	0.03497	0.04853635	0.07229	-6.871	0.53792	T	.	.	0.072	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	4.038878	0.59774	24.1	0.94339044324088406	0.24678	0.94404	0.61057	D	AEFGBI	0.500393	0.53367	D	0.0233442524882735	0.42917	2.595069	0.190487342982992	0.49324	3.137001	0.999874279405602	0.44625	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	4.605000	0.60825	4.911000	0.45953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9234:0.0:0.0766	14.122	0.64723	704	0.57414	.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	33	chr6	128083813	.	C	T	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=668;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.648;SOR=0.54	GT:AD:DP:GQ:PL	0/1:27,29:56:99:699,0,565	18	0	1	0
chr6	129464354	129464354	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon50:c.C7057T:p.R2353C,LAMA2:NM_001079823:exon50:c.C7057T:p.R2353C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	301389	LAMA2-related_muscular_dystrophy|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|Primary_dilated_cardiomyopathy|not_provided|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23	MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.641	0.149056862123	0.0002	.	8.254e-05	0	8.738e-05	0.0001	0	0.0001	0	6.057e-05	6.47e-05	10	154602	rs145885540	8.085e-05	8.14e-05	6.409e-05	9.778e-05	0.0009	6.879e-05	6.431e-05	0.0003	0.0002	0.0001	0.0001	3.838e-05	7.563e-05	0	0.0009	8.107e-05	8.295e-05	3.48e-05	0.0001	0.0001	0.0001	0.0002	0.0007	9.769e-05	8.28e-05	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0	0.0001	0	0	0.0	0.91255	D	.	.	.	0.97	0.56973	D	0.337	0.42281	B	0.000000	0.84330	D	0.094456	1	0.81001	D	2.39	0.68882	M	-1.27	0.79277	T	-5.0	0.82341	D	0.903	0.94432	-0.6505	0.62692	T	0.247	0.61589	T	9	0.8161694	0.80855	D	0.149057	0.83091	D	0.641	0.86333	.	.	0.902513789421	0.90154	0.7105046387316458	0.70992	0.377055545769	0.39141	0.797083973885	0.81519	T	0.067677	0.74598	T	0.170771	0.71194	D	0.303717	0.88368	D	0.731377124786377	0.42282	D	0.922208	0.71716	D	0.5583806	0.70419	0.5080504	0.71569	0.5583806	0.70421	0.5080504	0.71569	-14.153	0.93543	D	0.736636749109076	0.81856	0.883	0.81647	P	.;.;.	.;.;.	4.834664	0.78871	27.0	0.99882579619656287	0.95813	0.96484	0.69368	D	AEFGBI	0.874008	0.79667	D	0.453357154322965	0.64394	4.692888	0.551916713069094	0.71531	5.668994	0.999915716367529	0.45857	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	5.677000	0.67810	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:1.0:0.0:0.0	20.192	0.98232	758	0.50837	Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	973.33	36	chr6	129464354	.	C	T	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.648;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.33;SOR=0.645	GT:AD:DP:GQ:PL	0/1:63,45:108:99:987,0,1504	18	0	1	0
chr6	129641903	129641903	C	T	exonic	ARHGAP18	.	nonsynonymous SNV	ARHGAP18:NM_033515:exon2:c.G229A:p.D77N	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0532124861861	0.0004	.	0.0004	9.623e-05	0.0016	0	0	0.0004	0	0.0001	0.000401	62	154602	rs146502081	0.0004	0.0004	0.0004	0.0004	0.0080	0.0003	0.0003	0.0061	0.0055	0.0003	0.0014	0.0003	0	0	0.0080	0.0003	0.0007	8.116e-05	0.0006	0.0006	0.0004	0.0007	0.0037	0.0005	0.0004	0.0030	0.0027	7.241e-05	0.0055	0.0037	0.0003	0	0	0	0.0003	0.0010	0	.	.	.	0.053	0.47336	T	0.357	0.33788	B	0.217	0.37636	B	0.000134	0.49741	D	0.168352	0.959944	0.38154	D	2.38	0.68558	M	1.99	0.21666	T	.	.	.	0.308	0.34767	-0.7415	0.58376	T	0.171	0.51181	T	8	0.023521185	0.00618	T	0.053212	0.65380	D	0.295	0.61502	.	.	0.567712783826	0.56435	0.36251872275418046	0.36165	0.441094502733	0.44109	0.457587778568	0.32980	T	0.260802	0.63222	T	-0.609004	0.00128	T	-0.677648	0.07128	T	0.413955539464951	0.29465	T	0.835616	0.50622	T	0.06613784	0.14201	0.082284436	0.18768	0.06613784	0.14201	0.082284436	0.18767	-5.557	0.42398	T	.	.	0.191	0.41016	B	.	.	2.925112	0.38847	20.8	0.99225452485856991	0.56057	0.89613	0.50190	D	AEFBI	0.194684	0.32176	N	-0.157432802250512	0.34918	1.999274	-0.178158007767175	0.32341	1.839025	0.999993700500636	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.99	4.17	0.48303	2.042000	0.40844	2.229000	0.31515	-0.218000	0.08083	0.976000	0.34826	0.992000	0.31684	0.412000	0.27050	0.0:0.7507:0.2493:0.0	16.369	0.83179	688	0.59122	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.012228	0.020468	0.000000	0.008621	0.000000	0.000000	0.02632	1151.33	40	chr6	129641903	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.3;SOR=0.726	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1165,0,856	18	0	1	0
chr6	132553519	132553519	A	C	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.A827C:p.D276A	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00978816711274	.	0.00179712	0.0007	0	0	0	0	1.499e-05	0.0011	0.0047	0.0005821	90	154602	rs541224641	0.0003	0.0003	0.0001	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	2.988e-05	0	0	0	0	0.0009	6.295e-06	0.0002	0.0055	0.0002	0.0002	7.709e-05	0.0003	0.0064	0.0002	0.0001	0.0047	0.0040	2.406e-05	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.958	0.02562	T	0.012	0.16265	B	0.012	0.16012	B	0.163658	0.17585	N	0.478799	1	0.08975	N	1.225	0.30651	L	-0.49	0.70365	T	-2.4	0.52776	N	0.33	0.37093	-1.0267	0.21527	T	0.073	0.29610	T	10	0.008276135	0.00188	T	0.009788	0.25540	T	0.169	0.43123	0.566	0.68768	0.405150804464	0.40131	0.179677572160014	0.17886	0.0527421646329	0.05814	0.290662914515	0.09018	T	0.021024	0.16443	T	-0.41049	0.01972	T	-0.360913	0.37946	T	0.0263710992219338	0.01456	T	0.89651	0.63872	D	0.15959647	0.35842	0.12346664	0.29770	0.15959647	0.35842	0.12346664	0.29770	-9.83	0.72888	D	.	.	0.236	0.47005	B	.	.	2.376401	0.30495	18.46	0.12386691235252695	0.00214	0.07934	0.13919	N	AEFBI	0.041180	0.06227	N	-0.940806920875025	0.09901	0.4706668	-0.92828114218113	0.11428	0.5821467	5.68664806712841E-4	0.07335	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.72	3.54	0.39650	0.247000	0.17953	-1.201000	0.06041	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.532:0.2067:0.0:0.2613	5.244	0.14803	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2079.33	33	chr6	132553519	.	A	C	2079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.077;DP=791;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.474;SOR=0.55	GT:AD:DP:GQ:PL	0/1:70,88:158:99:2093,0,1825	18	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.010870	0.017544	0.000000	0.043103	0.009146	0.018939	0.02632	1020.33	68	chr6	139242800	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.083;SOR=0.746	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1034,0,1008	18	0	1	0
chr6	143765615	143765615	C	G	exonic	PHACTR2	.	nonsynonymous SNV	PHACTR2:NM_001100165:exon5:c.C809G:p.P270R,PHACTR2:NM_001100166:exon5:c.C776G:p.P259R,PHACTR2:NM_001100164:exon6:c.C1049G:p.P350R,PHACTR2:NM_014721:exon6:c.C1016G:p.P339R	.	413	1101	7	1	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0107908060015	0.0003	0.000599042	0.0007	0	8.646e-05	0	0	0.0003	0.0045	0.0039	0.0006015	93	154602	rs200996920	0.0003	0.0003	0.0002	0.0005	0.0038	0.0003	0.0003	0.0034	0.0033	5.974e-05	6.708e-05	0	2.519e-05	0	0.0010	0.0001	0.0004	0.0038	0.0003	0.0003	0.0002	0.0005	0.0062	0.0002	0.0002	0.0045	0.0039	2.405e-05	0	0.0002	0	0	0	0	0.0002	0	0.0062	0.036	0.56456	D	0.09	0.40267	T	0.119	0.29346	B	0.037	0.31211	B	0.733651	0.06385	N	1.124900	1	0.08975	N	1.59	0.40313	L	1.4	0.33630	T	-3.93	0.73267	D	0.176	0.24010	-0.9666	0.37894	T	0.036	0.15334	T	10	0.006910652	0.00157	T	0.010791	0.27726	T	0.016	0.02506	.	.	0.323886383625	0.31992	0.2961984260644039	0.29532	0.110288334965	0.12446	0.223348975182	0.01512	T	0.127875	0.45517	T	-0.532693	0.00370	T	-0.539426	0.18352	T	0.0252067859385197	0.01299	T	0.789921	0.43036	T	0.095096566	0.22372	0.10002162	0.23900	0.095096566	0.22372	0.10002162	0.23900	-6.369	0.49642	T	.	.	0.095	0.15564	B	.;.;.;.;.	.;.;.;.;.	0.352972	0.07262	3.862	0.81900478573249891	0.13917	0.25764	0.22796	N	AEFBI	0.106478	0.21243	N	-0.867715413412455	0.11616	0.5615743	-0.911094429465205	0.11832	0.6051939	0.191413385647341	0.18005	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	2.41	0.28644	1.212000	0.31999	0.607000	0.19990	-0.187000	0.09635	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1414:0.6141:0.0:0.2445	5.338	0.15276	748	0.52143	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1839.33	47	chr6	143765615	.	C	G	1839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.164;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.226;SOR=0.727	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1853,0,1402	18	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	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	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	866.83	34	chr6	150389354	.	G	A	866.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.015;DP=640;ExcessHet=0.119;FS=2.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.528;SOR=1.066	GT:AD:DP:GQ:PL	0/1:25,16:41:99:400,0,658	17	0	2	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	0/1:137,47:192:93:93,0,3273	10	0	5	4
chr6	152364955	152364955	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	.	195496	SYNE1-related_disorder|not_specified|Autosomal_recessive_ataxia,_Beauce_type|Arthrogryposis_multiplex_congenita_3,_myogenic_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided	.|MedGen:CN169374|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	0.009933312884	0.0046	0.00199681	0.0043	0.0010	0.0017	0	0.0030	0.0065	0.0055	0.0022	0.0043984	680	154602	rs150170988	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0007	0.0019	7.652e-05	2.519e-05	0.0035	0.0052	0.0073	0.0044	0.0023	0.0039	0.0039	0.0039	0.0038	0.0061	0.0036	0.0035	0.0056	0.0054	0.0012	0	0.0044	0	0	0.0033	0	0.0061	0.0028	0.0037	0.098	0.30800	T	0.188	0.29945	T	0.002	0.09854	B	0.004	0.10090	B	0.186687	0.16957	N	0.543802	0.999293	0.47197	D	0.84	0.21119	L	1.3	0.35590	T	-1.4	0.37375	N	0.278	0.38027	-1.0726	0.08851	T	0.035	0.14857	T	10	0.0111064315	0.00244	T	0.009933	0.25856	T	0.096	0.27654	.	.	0.351614576976	0.34778	0.2244873477656896	0.22363	0.171465741574	0.19314	0.400257349014	0.25105	T	0.339173	0.70835	T	-0.573699	0.00210	T	-0.587461	0.13886	T	0.0212920559100097	0.00831	T	0.854615	0.55137	D	0.06489483	0.13815	0.086930245	0.20172	0.07934664	0.18121	0.0965739	0.22950	-1.454	0.01672	T	.	.	0.076	0.05756	B	.;.;.	.;.;.	1.685810	0.21482	15.22	0.84459180720230087	0.15304	0.91252	0.53159	D	AEFDBI	0.437304	0.49716	N	-0.369852898958125	0.26549	1.449777	-0.244897618505376	0.29947	1.68202	0.123480322609556	0.16937	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.17	0.861	0.18186	3.031000	0.49417	1.455000	0.26636	0.676000	0.76740	1.000000	0.71638	0.813000	0.27056	1.000000	0.97212	0.0788:0.2332:0.5071:0.1809	4.372	0.10685	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	0.003525	0.010101	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	3771.33	42	chr6	152364955	.	G	T	3771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.534;DP=1032;ExcessHet=0;FS=1.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.791;SOR=0.814	GT:AD:DP:GQ:PL	0/1:159,156:315:99:3785,0,3807	18	0	1	0
chr6	152425547	152425547	C	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon39:c.G5122T:p.A1708S,SYNE1:NM_182961:exon39:c.G5101T:p.A1701S	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.9071	0.526	.	194248	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|SYNE1-related_disorder|not_specified|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0031	0.000998403	0.0028	0.0005	0.0030	0	0.0026	0.0040	0.0033	0.0010	0.0027749	429	154602	rs149758808	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0043	0.0006	0.0020	3.826e-05	0	0.0027	0.0002	0.0044	0.0039	0.0008	0.0026	0.0026	0.0028	0.0024	0.0044	0.0024	0.0023	0.0040	0.0038	0.0007	0.0077	0.0016	0	0	0.0026	0	0.0044	0.0024	0.0021	0.447	0.10447	T	0.2	0.27591	T	0.02	0.18235	B	0.01	0.14941	B	0.052020	0.22931	N	0.372504	0.660476	0.81001	D	2.43	0.70455	M	1.2	0.37405	T	-0.65	0.18877	N	0.141	0.14054	-1.1117	0.02928	T	0.036	0.15465	T	10	0.007766992	0.00176	T	0.013676	0.33266	T	0.044	0.11924	.	.	0.314716216878	0.31082	0.029072802033419932	0.02856	0.121011525284	0.13633	0.331974953413	0.15233	T	0.106973	0.41878	T	-0.55659	0.00266	T	-0.571326	0.15328	T	0.0204669671630273	0.00746	T	0.852015	0.54241	D	0.08967832	0.20962	0.07782059	0.17372	0.092330486	0.21658	0.08882486	0.20734	-3.819	0.21089	T	.	.	0.080	0.07985	B	.;.	.;.	2.761652	0.36222	20.2	0.79796005974418305	0.12904	0.93519	0.58438	D	AEFBI	0.623676	0.60753	D	-0.253456163731457	0.30965	1.731696	-0.10375460422831	0.35239	2.036346	0.676454824053053	0.22431	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.72	4.85	0.62375	2.590000	0.45819	2.176000	0.31092	0.589000	0.31548	1.000000	0.71638	0.989000	0.31174	0.236000	0.22896	0.0:0.9286:0.0:0.0714	14.147	0.64889	766	0.49742	.;.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	886.33	33	chr6	152425547	.	C	A	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=698;ExcessHet=0;FS=3.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.598;SOR=1.106	GT:AD:DP:GQ:PL	0/1:38,34:72:99:900,0,882	18	0	1	0
chr6	168309048	168309048	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G199A:p.A67T,DACT2:NM_214462:exon4:c.G709A:p.A237T	.	416	1078	26	2	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.0359425	0.0368	0.0120	0.0041	0.0797	0	0.0052	0	0.0609	0.0052975	819	154602	rs117378794	0.0065	0.0063	0.0050	0.0081	0.0578	0.0064	0.0064	0.0557	0.0549	0.0084	0.0047	0.0134	0.0578	0.0008	0.0128	0.0011	0.0099	0.0555	0.0088	0.0088	0.0074	0.0101	0.0689	0.0084	0.0082	0.0630	0.0607	0.0098	0	0.0084	0.0150	0.0689	0.0008	0.0170	0.0012	0.0109	0.0554	0.865	0.02639	T	0.678	0.06511	T	0.001	0.07471	B	0.003	0.08700	B	0.211105	0.16363	N	0.591328	1	0.08975	N	0.405	0.12330	N	0.99	0.41750	T	-0.13	0.08971	N	0.008	0.00226	-1.0680	0.09858	T	0.009	0.03140	T	10	0.0016542077	0.00020	T	.	.	.	0.057	0.16321	.	.	.	.	0.08330383807268534	0.08264	.	.	0.281877875328	0.07755	T	0.046	0.27172	T	-0.768857	0.00013	T	-0.8213	0.01426	T	0.0032293885992605	0.00034	T	0.230077	0.03096	T	0.018826319	0.00406	0.037838276	0.03522	0.018826319	0.00406	0.037838276	0.03521	-3.996	0.23744	T	.	.	0.064	0.02861	B	.;.	.;.	-1.500865	0.00294	0.005	0.56459774746239022	0.05557	0.00364	0.01860	N	AEFDBI	.	.	.	-2.8841353411091	0.00002	8.615512e-05	-2.90599218866823	0.00002	0.0001131657	0.999999839553939	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.48	-8.95	0.00657	-1.789000	0.01857	-5.403000	0.01731	-4.052000	0.00045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1208:0.3358:0.5434	10.167	0.42061	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027307	0.058511	0.028455	0.000000	0.000000	0.090909	0.004545	0.017544	0.02632	1939.33	37	chr6	168309048	.	C	T	1939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.773;DP=871;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PL	0/1:81,77:158:99:1953,0,2135	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	0|1:37,19:56:99:1|0:170561925_A_ACAG:600,0,1458:170561925	0	12	7	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	0/1:16,7:23:5:.:.:5,0,219:.	2	0	16	1
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C,SUN1:NM_001130965:exon6:c.G738T:p.W246C,SUN1:NM_001367639:exon6:c.G282T:p.W94C,SUN1:NM_001367660:exon6:c.G588T:p.W196C,SUN1:NM_001367662:exon6:c.G588T:p.W196C,SUN1:NM_001367670:exon6:c.G588T:p.W196C,SUN1:NM_001367671:exon6:c.G588T:p.W196C,SUN1:NM_001367633:exon7:c.G738T:p.W246C,SUN1:NM_001367644:exon7:c.G672T:p.W224C,SUN1:NM_001367645:exon7:c.G699T:p.W233C,SUN1:NM_001367653:exon7:c.G738T:p.W246C,SUN1:NM_001367658:exon7:c.G88T:p.A30S,SUN1:NM_001367665:exon7:c.G738T:p.W246C,SUN1:NM_001367667:exon7:c.G699T:p.W233C,SUN1:NM_001367669:exon7:c.G765T:p.W255C,SUN1:NM_001367672:exon7:c.G738T:p.W246C,SUN1:NM_001367679:exon7:c.G699T:p.W233C,SUN1:NM_001367680:exon7:c.G672T:p.W224C,SUN1:NM_001367681:exon7:c.G786T:p.W262C,SUN1:NM_001367689:exon7:c.G699T:p.W233C,SUN1:NM_001367694:exon7:c.G738T:p.W246C,SUN1:NM_001367695:exon7:c.G660T:p.W220C,SUN1:NM_001367701:exon7:c.G672T:p.W224C,SUN1:NM_001367634:exon8:c.G738T:p.W246C,SUN1:NM_001367635:exon8:c.G392T:p.G131V,SUN1:NM_001367638:exon8:c.G849T:p.W283C,SUN1:NM_001367646:exon8:c.G870T:p.W290C,SUN1:NM_001367647:exon8:c.G783T:p.W261C,SUN1:NM_001367649:exon8:c.G783T:p.W261C,SUN1:NM_001367664:exon8:c.G849T:p.W283C,SUN1:NM_001367668:exon8:c.G783T:p.W261C,SUN1:NM_001367673:exon8:c.G870T:p.W290C,SUN1:NM_001367674:exon8:c.G936T:p.W312C,SUN1:NM_001367683:exon8:c.G822T:p.W274C,SUN1:NM_001367684:exon8:c.G897T:p.W299C,SUN1:NM_001367685:exon8:c.G849T:p.W283C,SUN1:NM_001367688:exon8:c.G822T:p.W274C,SUN1:NM_001367696:exon8:c.G849T:p.W283C,SUN1:NM_001367706:exon8:c.G870T:p.W290C,SUN1:NM_001367636:exon9:c.G981T:p.W327C,SUN1:NM_001367641:exon9:c.G1020T:p.W340C,SUN1:NM_001367643:exon9:c.G933T:p.W311C,SUN1:NM_001367651:exon9:c.G1152T:p.W384C,SUN1:NM_001367655:exon9:c.G981T:p.W327C,SUN1:NM_001367666:exon9:c.G981T:p.W327C,SUN1:NM_001367677:exon9:c.G1047T:p.W349C,SUN1:NM_001367682:exon9:c.G1020T:p.W340C,SUN1:NM_001367691:exon9:c.G981T:p.W327C,SUN1:NM_001367692:exon9:c.G1047T:p.W349C,SUN1:NM_001367693:exon9:c.G933T:p.W311C,SUN1:NM_001367697:exon9:c.G933T:p.W311C,SUN1:NM_001367698:exon9:c.G1020T:p.W340C,SUN1:NM_001367678:exon10:c.G1131T:p.W377C,SUN1:NM_001367687:exon10:c.G1131T:p.W377C,SUN1:NM_001367699:exon10:c.G1131T:p.W377C,SUN1:NM_001367703:exon10:c.G1131T:p.W377C,SUN1:NM_001367705:exon10:c.G1131T:p.W377C	.	428	1011	77	6	0	89	0.0421601	.	.	.	457959	not_provided|Emery-Dreifuss_muscular_dystrophy|SUN1-related_disorder	MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, 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	0	0	1	0	0.022704	0.000000	0.016349	0.026471	0.050000	0.060345	0.033951	0.022727	0.02632	1260.33	38	chr7	851463	.	G	T	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.666;DP=1053;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.532;SOR=0.851	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1274,0,1437	18	0	1	0
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008836	0.000000	0.008264	0.009036	0.000000	0.018182	0.009494	0.007752	0.05263	635.83	35	chr7	987514	.	G	A	635.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=642;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.803;SOR=0.723	GT:AD:DP:GQ:PL	0/1:22,13:35:99:337,0,587	17	0	2	0
chr7	1233195	1233195	G	A	exonic	UNCX	.	nonsynonymous SNV	UNCX:NM_001080461:exon1:c.G178A:p.G60S	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.915632130346	.	0.000199681	0.0031	0	0	0	.	0.0018	0	0.0037	0.0002199	34	154602	rs567702156	0.0006	0.0006	0.0005	0.0007	0.0071	0.0006	0.0006	0.0051	0.0044	0.0002	0.0003	8.834e-05	0	3.05e-05	0.0071	0.0005	0.0008	0.0029	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0003	0.0021	0.0017	4.83e-05	0	0.0001	0.0006	0	0	0.0069	0.0006	0.0024	0.0033	0.012	0.54683	D	0.095	0.39492	T	0.999	0.77913	D	0.948	0.68536	D	0.000000	0.84330	U	0.000000	0.970829	0.38826	D	1.195	0.30194	L	-2.72	0.90622	D	-1.75	0.41428	N	0.159	0.16586	0.557	0.91325	D	0.727	0.90669	D	10	0.018242747	0.00395	T	0.915632	0.99374	D	0.541	0.80842	.	.	0.644124591191	0.64118	0.6239990076041725	0.62332	.	.	0.937994062901	0.99377	D	0.108864	0.42226	T	-0.290568	0.09580	T	-0.193835	0.55230	T	0.0498748511758224	0.05478	T	0.881012	0.60027	D	0.31908193	0.54562	0.39508325	0.64185	0.31908193	0.54562	0.39508325	0.64185	-8.085	0.61648	D	.	.	0.135	0.29228	B	.	.	2.962447	0.39457	21.0	0.99368469354013367	0.61326	0.62402	0.31771	D	AEFDGBHCI	0.233665	0.35655	N	0.28389507593399	0.55330	3.697	0.203907271872052	0.50064	3.202416	0.999998555928271	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.78	2.78	0.31702	2.044000	0.40863	7.570000	0.60688	0.468000	0.21784	0.999000	0.42656	1.000000	0.68203	0.801000	0.37776	0.0:0.0:1.0:0.0	12.434	0.54927	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	628.33	20	chr7	1233195	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-0.147;SOR=0.906	GT:AD:DP:GQ:PL	0/1:9,23:32:99:642,0,174	18	0	1	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	653.4	35	chr7	5313184	.	GCTA	G	653.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.764;DP=879;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1179;MLEAC=4;MLEAF=0.105;MQ=58.79;MQRankSum=-7.241;QD=2.43;ReadPosRankSum=2.53;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,5:60:44:0|1:5313184_GCTA_G:44,0,2253:5313184	15	0	4	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	618.39	35	chr7	5313190	.	GCTGCCACTA	G	618.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.811;DP=885;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.81;MQRankSum=-8.028;QD=2.21;ReadPosRankSum=2.35;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,5:66:26:0|1:5313184_GCTA_G:26,0,2501:5313184	15	0	4	0
chr7	24719102	24719102	A	G	exonic	GSDME	.	nonsynonymous SNV	GSDME:NM_001127454:exon3:c.T29C:p.M10T,GSDME:NM_001127453:exon4:c.T521C:p.M174T,GSDME:NM_004403:exon4:c.T521C:p.M174T	.	.	.	.	.	.	.	.	.	.	.	588525	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00456354103186	0.0030	0.00139776	0.0007	0.0077	0.0003	0	0	1.5e-05	0.0011	0	0.0006015	93	154602	rs876306	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0004	0	0	0	0.0002	4.676e-05	0.0005	3.478e-05	0.0022	0.0022	0.0024	0.0021	0.0075	0.0020	0.0019	0.0068	0.0066	0.0075	0	0.0008	0	0	0	0	0.0001	0.0028	0	0.373	0.11442	T	0.307	0.33666	T	0.0	0.02946	B	0.0	0.01387	B	0.523022	0.11720	N	0.789923	1	0.08975	N	.	.	.	2.06	0.20523	T	0.03	0.14000	N	0.028	0.01421	-1.0200	0.23715	T	0.032	0.13898	T	10	0.005858332	0.00131	T	0.004564	0.11252	T	0.099	0.28413	.	.	0.0482279557977	0.04254	0.3605440252673144	0.35968	0.0392535114486	0.04187	0.287370115519	0.08541	T	0.023282	0.17797	T	-0.49095	0.00642	T	-0.473146	0.25179	T	0.00156636646264023	0.00016	T	0.119088	0.00917	T	0.024248086	0.01238	0.05671405	0.10183	0.034166247	0.03782	0.05862566	0.10863	-0.542	0.03073	T	0.07537079903073311	0.03348	0.067	0.06849	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.286144	0.02679	0.345	0.41234736587768073	0.02962	0.03345	0.08429	N	AEFDGBHCI	0.050247	0.08764	N	-1.70819701500205	0.00813	0.03515243	-1.59698909256136	0.01673	0.07600303	0.999999995889377	0.74766	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.17	2.8	0.31881	0.309000	0.19094	2.218000	0.31426	-2.477000	0.00271	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.8347:0.0:0.1653:0.0	10.394	0.43372	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	655.33	94	chr7	24719102	.	A	G	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.843;DP=996;ExcessHet=0;FS=3.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.4;SOR=0.732	GT:AD:DP:GQ:PL	0/1:43,31:74:99:669,0,1060	18	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,49:206:99:0|1:27094574_GACCC_G:266,0,5897:27094574	14	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,49:206:99:0|1:27094574_GACCC_G:266,0,5897:27094574	14	0	5	0
chr7	35638413	35638413	G	A	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon6:c.C554T:p.A185V	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00830089784445	0.0003	0.000599042	0.0009	0.0002	0.0007	0	0	0.0004	0.0011	0.0045	0.0007762	120	154602	rs143548194	0.0005	0.0005	0.0004	0.0007	0.0147	0.0005	0.0005	0.0122	0.0113	0.0001	0.0005	0.0002	0	0	0.0147	0.0002	0.0010	0.0042	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.406e-05	0	0.0002	0.0006	0	0	0.0136	0.0003	0.0005	0.0039	0.098	0.39334	T	0.589	0.11078	T	0.024	0.19075	B	0.014	0.16862	B	0.009620	0.30282	N	0.391146	0.590511	0.32452	D	1.545	0.39105	L	2.78	0.30669	T	-1.2	0.30762	N	0.137	0.13484	-1.0500	0.14397	T	0.051	0.21572	T	10	0.007558018	0.00172	T	0.008301	0.21979	T	0.048	0.13305	.	.	0.375384844437	0.37152	0.3521035654502703	0.35124	0.286700371962	0.31060	0.491807460785	0.37690	T	0.002	0.01317	T	-0.470251	0.00847	T	-0.44854	0.27859	T	0.0213379543456771	0.00837	T	0.844016	0.66491	T	0.06061559	0.12459	0.066769175	0.13724	0.06061559	0.12458	0.066769175	0.13724	-3.477	0.16111	T	.	.	0.088	0.18746	B	.;.;.;.	.;.;.;.	1.776554	0.22588	15.68	0.93043355323146437	0.22648	0.87186	0.46650	D	AEFBI	0.112113	0.22172	N	-0.568905067551693	0.19894	1.044783	-0.487702264382553	0.22491	1.221877	0.169259988860167	0.17711	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.04	4.15	0.47978	3.054000	0.49600	7.572000	0.60737	0.676000	0.76740	0.275000	0.25094	1.000000	0.68203	0.031000	0.13245	0.0:0.1371:0.8629:0.0	15.752	0.77765	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	0.005040	0.000000	0.001359	0.008772	0.000000	0.025862	0.003067	0.007576	0.02632	915.33	33	chr7	35638413	.	G	A	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=694;ExcessHet=0;FS=8.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=2.15;SOR=1.158	GT:AD:DP:GQ:PL	0/1:32,37:69:99:929,0,683	18	0	1	0
chr7	44966198	44966198	G	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.C2032A:p.H678N	.	8	1506	8	0	0	8	0.00264901	.	.	.	3547187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	.	0.0045	0.00139776	0.0043	0.0007	0.0005	0	0.0145	0.0061	0.0060	0.0006	0.0039068	604	154602	rs141505221	0.0048	0.0049	0.0049	0.0048	0.0054	0.0047	0.0047	0.0053	0.0052	0.0006	0.0009	0.0021	0	0.0140	0.0007	0.0054	0.0032	0.0004	0.0046	0.0045	0.0044	0.0047	0.0065	0.0043	0.0042	0.0060	0.0058	0.0007	0	0.0012	0.0020	0	0.0168	0	0.0065	0.0052	0.0006	0.307	0.14159	T	0.306	0.19972	T	0.06	0.23119	B	0.06	0.26717	B	0.000737	0.42129	D	0.000000	0.999864	0.50061	D	0.865	0.21413	L	-0.59	0.71543	T	-1.7	0.40468	N	0.566	0.58968	-0.8598	0.51277	T	0.162	0.49847	T	10	0.007805586	0.00177	T	.	.	.	0.074	0.21613	.	.	0.63538471256	0.63239	0.6958145942834287	0.69522	0.729681231108	0.62676	0.704283297062	0.67764	T	0.181687	0.53345	T	-0.392426	0.02595	T	-0.32993	0.41477	T	0.0133794771716969	0.00242	T	0.616438	0.23930	T	0.25378352	0.48402	0.115964726	0.27995	0.25378352	0.48402	0.115964726	0.27994	-8.869	0.66849	D	.	.	0.234	0.46745	B	.;.	.;.	2.964845	0.39493	21.0	0.98976368274704352	0.49640	0.89050	0.49288	D	AEFDGBHCI	0.683704	0.64629	D	-0.108517870694392	0.37020	2.147976	0.049992138280497	0.42072	2.538356	0.999999995420061	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	3.417000	0.52471	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0952:0.0:0.9048:0.0	10.003	0.41114	716	0.55970	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001514	0.000000	0.000000	0.005882	0.000000	0.000000	0.003067	0.003817	0.02632	2387.33	39	chr7	44966198	.	G	T	2387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=811;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.51;ReadPosRankSum=1.32;SOR=0.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,62:111:99:0|1:44966196_G_A:2401,0,1871:44966196	18	0	1	0
chr7	45103364	45103364	T	A	exonic	TBRG4	.	nonsynonymous SNV	TBRG4:NM_030900:exon4:c.A815T:p.H272L,TBRG4:NM_199122:exon4:c.A815T:p.H272L,TBRG4:NM_001261834:exon6:c.A1178T:p.H393L,TBRG4:NM_004749:exon6:c.A1145T:p.H382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00550252937395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.032	0.53426	D	0.002	0.39964	B	0.015	0.31021	B	0.006727	0.31837	N	0.387583	0.795135	0.34438	D	.	.	.	1.04	0.40218	T	-1.77	0.69714	N	0.412	0.48780	-1.0244	0.22279	T	0.059	0.24575	T	10	0.2208969	0.38799	T	0.005503	0.14166	T	0.094	0.27141	0.581	0.70733	0.0675242888579	0.06100	0.25988205990328384	0.25902	0.505976075936	0.48825	0.255722105503	0.04394	T	0.007263	0.06675	T	-0.122055	0.32789	T	-0.4131	0.31867	T	0.40434741973877	0.29106	T	0.762724	0.38847	T	0.070000164	0.15382	0.085244425	0.19670	0.070000164	0.15382	0.085244425	0.19669	-2.14	0.03759	T	.	.	0.106	0.29560	B	.;.;.;.	.;.;.;.	0.432313	0.08027	4.746	0.92851450895876353	0.22390	0.94200	0.60417	D	AEFDBCI	0.380781	0.46329	N	-0.637443206535772	0.17828	0.920696	-0.630057372958298	0.18723	1.001428	0.829305322480282	0.24664	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.59	-2.04	0.06937	0.202000	0.17094	-7.865000	0.01071	0.665000	0.62972	0.828000	0.30104	0.000000	0.08366	0.998000	0.85391	0.0:0.2673:0.0:0.7327	11.133	0.47584	712	0.56465	FAST kinase leucine-rich;.;.;FAST kinase leucine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	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	671.33	47	chr7	45103364	.	T	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.45;SOR=0.664	GT:AD:DP:GQ:PL	0/1:65,34:99:99:685,0,1563	18	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	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	0/1:60,37:97:99:.:.:272,0,899:.	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, 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	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,20:92:99:0|1:48103308_C_T:282,0,2398:48103308	6	0	12	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:130,53:191:99:171,0,2273	9	0	8	2
chr7	72942996	72942996	-	GCCCCG	exonic	POM121	.	nonframeshift insertion	POM121:NM_172020:exon12:c.2208_2209insGCCCCG:p.A739_A740insPA,POM121:NM_001257190:exon14:c.2208_2209insGCCCCG:p.A739_A740insPA,POM121:NM_001367610:exon14:c.2031_2032insGCCCCG:p.A680_A681insPA	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0	0.0005	0	0.0004	0	0	0.0002305	6	26028	rs782676174	0.0004	0.0006	0.0004	0.0004	0.0010	0.0004	0.0003	0.0007	0.0006	0.0005	9.011e-05	0.0071	0.0010	0	0.0003	0.0002	0.0007	0.0002	0.0006	0.0008	0.0006	0.0006	0.0014	0.0005	0.0005	0.0006	0.0005	0.0004	0	6.54e-05	0.0099	0.0014	0	0	0.0004	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1974.29	34	chr7	72942996	.	A	AGCCCCG	1974.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.992;DP=1031;ExcessHet=0;FS=4.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=0.19;QD=13.81;ReadPosRankSum=-0.902;SOR=0.57	GT:AD:DP:GQ:PL	0/1:89,54:143:99:1988,0,3576	18	0	1	0
chr7	73769988	73769988	A	G	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.T62C:p.I21T	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.340119394773	0.0024	0.000599042	0.0028	0.0005	0.0019	0	0.0012	0.0041	0.0066	0.0014	0.0022703	351	154602	rs113016282	0.0020	0.0020	0.0021	0.0020	0.0158	0.0020	0.0020	0.0131	0.0121	0.0007	0.0020	0.0154	0	0.0005	0.0158	0.0018	0.0039	0.0013	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0023	0.0020	0.0004	0	0.0029	0.0185	0	0.0004	0.0136	0.0021	0.0024	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.991	0.64070	D	0.97	0.72226	D	0.000459	0.44317	D	0.187626	0.858781	0.35350	D	2.715	0.79425	M	-2.61	0.89953	D	-4.13	0.75139	D	0.729	0.73015	0.682	0.92956	D	0.768	0.92101	D	10	0.012958348	0.00276	T	0.340119	0.91992	D	0.518	0.79461	.	.	0.872881601446	0.87164	0.8183121460000667	0.81788	1.81973249962	0.91917	0.692968964577	0.66132	T	0.634574	0.88717	D	-0.182573	0.23353	T	-0.0402671	0.67683	D	0.0434138198746558	0.04313	T	0.954805	0.82790	D	0.5379085	0.69279	0.52494216	0.72553	0.5379085	0.69280	0.52494216	0.72554	-7.243	0.55789	T	.	.	0.515	0.65239	A	.	.	4.951434	0.81797	27.6	0.99718081088523025	0.81843	0.97420	0.74637	D	AEFDBHCI	0.882172	0.81008	D	0.62522875360619	0.74775	6.190228	0.552416265015049	0.71566	5.674335	0.999999999871556	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	4.95	3.8	0.42887	9.223000	0.94355	9.269000	0.79621	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.9074:0.0:0.0926:0.0	8.626	0.33052	878	0.29785	.	.	.	.	.	.	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	0.021169	0.005051	0.028533	0.029240	0.000000	0.008621	0.024540	0.007576	0.02632	1834.33	38	chr7	73769988	.	A	G	1834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.675;DP=807;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.168;SOR=0.748	GT:AD:DP:GQ:PL	0/1:89,85:174:99:1848,0,2035	18	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.02632	1279.33	34	chr7	73834825	.	G	A	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=743;ExcessHet=0;FS=4.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.246;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,46:100:99:0|1:73834825_G_A:1293,0,2070:73834825	18	0	1	0
chr7	75501416	75501416	C	A	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.C810A:p.F270L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.46649	.	.	.	.	.	.	.	0.16587067	0.30991	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.128492083018516	0.12774	.	.	0.616436123848	0.55225	T	.	.	.	0.0148524	0.53685	T	-0.216442	0.53079	T	.	.	.	0.717528	0.33029	T	0.07421858	0.16640	0.09457625	0.22392	0.07421858	0.16640	0.09457625	0.22392	-8.797	0.66381	D	.	.	0.822	0.79531	P	.;.;.	.;.;.	0.406025	0.07770	4.457	0.57355622055060629	0.05751	0.00614	0.02721	N	AEFI	.	.	.	.	.	.	.	.	.	9.31201726495322E-6	0.01202	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.109871	0.03346	0	0.0877649	0.19871	0.9	-0.6	0.11058	0.200000	0.17055	-1.218000	0.05994	0.197000	0.17898	0.021000	0.19753	0.000000	0.08366	0.049000	0.15107	0.0:0.5935:0.0:0.4065	3.346	0.06717	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1588.33	33	chr7	75501416	.	C	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=943;ExcessHet=0;FS=1.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.21;MQRankSum=-6.253;QD=8.78;ReadPosRankSum=0.052;SOR=0.537	GT:AD:DP:GQ:PL	0/1:111,70:181:99:1602,0,2907	18	0	1	0
chr7	88282672	88282672	C	A	exonic	STEAP4	.	nonsynonymous SNV	STEAP4:NM_024636:exon3:c.G953T:p.R318L,STEAP4:NM_001205315:exon4:c.G953T:p.R318L	.	424	1095	3	0	0	3	0.00136799	.	.	.	700273	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.484	.	0.0080	0.00399361	0.0068	0.0023	0.0073	0	0.0074	0.0092	0.0056	0.0030	0.0068951	1066	154602	rs73205916	0.0085	0.0085	0.0087	0.0083	0.0098	0.0084	0.0083	0.0097	0.0096	0.0017	0.0072	0.0021	0	0.0064	0.0023	0.0098	0.0075	0.0028	0.0066	0.0066	0.0070	0.0063	0.0100	0.0063	0.0062	0.0094	0.0091	0.0021	0.0055	0.0086	0.0012	0	0.0066	0.0136	0.0100	0.0052	0.0027	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000199	0.48115	N	0.168688	0.937781	0.26881	N	3.29	0.90338	M	-2.81	0.91134	D	-5.53	0.86073	D	0.5	0.53269	0.337	0.88130	D	0.804	0.93376	D	10	0.010172397	0.00227	T	.	.	.	0.484	0.77335	.	.	0.952351160866	0.95185	0.8280759609159314	0.82765	0.383352055737	0.39662	0.431262522936	0.29380	T	0.57205	0.85846	D	-0.280292	0.10637	T	-0.168289	0.57599	T	0.0387247722034874	0.03461	T	0.919108	0.72277	D	0.6471158	0.75210	0.6499894	0.79523	0.6471158	0.75211	0.6499894	0.79524	-3.871	0.21869	T	.	.	0.398	0.59488	A	.;.	.;.	3.875536	0.56290	23.7	0.9979692040800936	0.88194	0.81334	0.40759	D	AEFI	0.312070	0.41761	N	0.525838392893618	0.68622	5.24269	0.432501523744406	0.63602	4.597142	0.710084547913802	0.22808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	4.25	0.49658	3.417000	0.52471	3.258000	0.37072	0.549000	0.26987	0.869000	0.30776	1.000000	0.68203	0.903000	0.43903	0.1308:0.8029:0.0:0.0663	10.967	0.46629	886	0.28090	Ferric reductase transmembrane component-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1469.33	37	chr7	88282672	.	C	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.893;DP=766;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.46;SOR=0.573	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1483,0,1347	18	0	1	0
chr7	92469996	92469996	A	G	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.T386C:p.V129A,ERVW-1:NM_001130925:exon2:c.T386C:p.V129A	.	551	945	26	0	0	26	0.0135699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0082	0.00499201	0.0074	0.0015	0.0047	0	0.0011	0.0118	0.0070	0.0018	0.0070827	1095	154602	rs142852059	0.0078	0.0078	0.0077	0.0079	0.0183	0.0076	0.0076	0.0141	0.0126	0.0019	0.0056	0.0154	5.549e-05	0.0011	0.0183	0.0105	0.0093	0.0029	0.0065	0.0065	0.0072	0.0058	0.0100	0.0062	0.0060	0.0094	0.0091	0.0019	0.0022	0.0083	0.0121	0	0.0008	0.0204	0.0100	0.0095	0.0050	0.02	0.49613	D	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	-1.0	0.26422	N	0.053	0.02964	-1.0259	0.21788	T	0.024	0.10148	T	6	0.004876077	0.00104	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.5273443581848267	0.52658	0.401209546	0.41108	0.52984726429	0.43013	T	0.008542	0.07834	T	-0.668288	0.00056	T	-0.722338	0.04683	T	0.0131194170398087	0.00231	T	0.268673	0.04486	T	0.11896522	0.28020	0.15734355	0.36797	0.11896522	0.28020	0.15734355	0.36796	-3.739	0.19895	T	.	.	0.237	0.47039	B	.;.	.;.	0.017815	0.04408	1.147	0.86537609897876433	0.16603	0.00541	0.02492	N	AEGI	0.028852	0.02618	N	-0.623179455358839	0.18249	0.9459477	-0.838648393074483	0.13560	0.7041575	0.00115902076216214	0.08283	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.164000	0.16359	0.360000	0.17566	0.187000	0.17834	0.290000	0.25233	0.003000	0.18671	0.338000	0.25386	.	.	.	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	38	chr7	92469996	.	A	G	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.437;SOR=0.643	GT:AD:DP:GQ:PL	0/1:36,35:71:99:1036,0,979	18	0	1	0
chr7	94910346	94910346	A	G	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166162:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166163:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166160:exon2:c.A233G:p.N78S,PPP1R9A:NM_017650:exon2:c.A233G:p.N78S	.	421	1095	6	0	0	6	0.00273224	.	.	.	2392041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00589071365289	.	0.000199681	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs569938281	6.362e-05	6.362e-05	4.356e-05	8.388e-05	0.0007	5.295e-05	4.911e-05	0.0002	0.0001	2.987e-05	0	7.652e-05	0	0	0.0007	4.586e-05	0.0002	0.0002	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.374	0.11406	T	0.84	0.03610	T	0.0	0.02946	B	0.0	0.01387	B	0.036192	0.24552	N	0.385523	1	0.08975	N	0.29	0.10111	N	2.58	0.13434	T	-0.42	0.14978	N	0.058	0.08646	-0.9738	0.36387	T	0.011	0.04369	T	9	0.01691711	0.00358	T	0.005891	0.15340	T	0.055	0.15663	0.058	0.00182	0.141422826196	0.13715	0.05467836055173705	0.05409	0.131701140582	0.14851	0.256446897984	0.04476	T	0.03028	0.21502	T	-0.623219	0.00105	T	-0.82844	0.01290	T	0.0625598430633545	0.07567	T	0.861714	0.55578	D	0.021377724	0.00737	0.04201518	0.04908	0.021377724	0.00737	0.04201518	0.04907	-1.695	0.02216	T	.	.	0.049	0.00120	B	.;.;.;.;.;.	.;.;.;.;.;.	0.080795	0.04871	1.459	0.24878314357983372	0.01121	0.05050	0.10838	N	AEFBI	0.063901	0.12377	N	-1.53472940274998	0.01625	0.07108063	-1.53899852451525	0.02052	0.0938404	0.999991806816145	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.527494	0.11647	0	0.616125	0.45549	0	.	.	5.51	-7.33	0.01284	-0.173000	0.09844	-1.072000	0.06417	-0.576000	0.04747	0.175000	0.24000	0.000000	0.08366	0.077000	0.17074	0.3283:0.1863:0.4854:0.0	11.030	0.46981	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1819.33	39	chr7	94910346	.	A	G	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.621;DP=788;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.722;SOR=0.62	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1833,0,1607	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|1:69,43:112:99:0|1:100175805_G_C:881,0,1879:100175805	1	0	18	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|1:437,114:615:99:0|1:100953098_G_C:3471,0,18006:100953098	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	0/1:438,105:603:99:.:.:3090,0,18075:.	2	0	17	0
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|1:371,30:401:99:0|1:100955170_G_T:143,0,15488:100955170	14	0	5	0
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	671.78	473	chr7	100955175	.	G	*	671.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.35;DP=6379;ExcessHet=2.0135;FS=14.502;InbreedingCoeff=-0.2066;MLEAC=3;MLEAF=0.083;MQ=58.56;MQRankSum=-15.13;QD=0.29;ReadPosRankSum=-1.114;SOR=2.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,30:401:99:0|1:100955170_G_T:143,0,15488:100955170	15	0	3	1
chr7	101004670	101004670	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A14107C:p.T4703P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0143237047126	.	.	4.62e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs763683438	2.888e-06	2.737e-06	4.276e-06	1.463e-06	0.0002	6.8e-07	4.6e-07	.	.	0	2.801e-05	3.971e-05	0	0	0.0002	9.271e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	2.71	0.12162	T	-1.79	0.43717	N	0.094	0.11197	-0.9654	0.38132	T	0.017	0.07045	T	7	0.07636461	0.11921	T	0.014324	0.34357	T	0.039	0.10176	0.127	0.03251	0.0401082797425	0.02173	0.03270743247242426	0.03218	.	.	0.559654533863	0.47219	T	0.047189	0.27649	T	-0.307717	0.07951	T	-0.67979	0.06996	T	0.102473852158767	0.12627	T	0.156584	0.01380	T	0.14611621	0.33464	0.11687267	0.28213	0.14611621	0.33464	0.11687267	0.28212	-7.424	0.57073	T	.	.	0.074	0.05231	B	.;.	.;.	1.319452	0.17233	13.04	0.34688142490920543	0.02136	0.00126	0.00785	N	AEFDBI	0.039896	0.05858	N	-0.908429845638357	0.10644	0.5096263	-1.0845595066731	0.08003	0.3916775	1.89188396802371E-4	0.05844	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	0.588	0.588	0.16630	0.035000	0.13685	0.400000	0.17989	0.279000	0.18609	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.9999:0.0:1.0E-4:0.0	5.546	0.16351	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	.	.	.	.	.	.	.	.	0.02632	3870.33	327	chr7	101004670	.	A	C	3870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=4076;ExcessHet=0;FS=1.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-1.05;SOR=0.788	GT:AD:DP:GQ:PL	0/1:92,133:225:99:3884,0,2528	18	0	1	0
chr7	102248627	102248627	G	A	exonic	CUX1	.	nonsynonymous SNV	CUX1:NM_001202543:exon24:c.G4136A:p.R1379Q,CUX1:NM_181552:exon24:c.G4103A:p.R1368Q	.	436	1055	28	3	0	34	0.0158582	.	.	.	1687632	not_provided|CUX1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	.	0.00259585	0.0096	0	0.0192	0	.	0.0091	0	0.0103	0.0006339	98	154602	rs553811765	0.0013	0.0012	0.0011	0.0014	0.0085	0.0012	0.0012	0.0079	0.0077	4.118e-05	0.0014	0.0059	3.916e-05	0.0004	0.0063	0.0007	0.0017	0.0085	0.0012	0.0013	0.0011	0.0014	0.0116	0.0011	0.0010	0.0092	0.0083	0.0002	0	0.0010	0.0061	0.0004	0.0007	0.0034	0.0011	0.0019	0.0116	0.64	0.05002	T	0.537	0.11371	T	0.0	0.02946	B	0.001	0.04355	B	0.604540	0.10925	N	0.737577	1	0.81001	D	0.255	0.09829	N	0.27	0.59176	T	0.45	0.04091	N	0.049	0.06190	-1.0046	0.28577	T	0.072	0.29355	T	10	0.0047064126	0.00099	T	.	.	.	0.056	0.15993	.	.	0.0675242888579	0.06100	0.11060020420240743	0.10989	1.41167626659	0.85466	0.64443308115	0.59194	T	0.280213	0.65291	T	-0.59438	0.00158	T	-0.619881	0.11194	T	0.0230915590920169	0.01035	T	0.773323	0.40460	T	0.03736673	0.04777	0.06377	0.12681	0.03736673	0.04777	0.06377	0.12681	-3.864	0.21824	T	.	.	0.086	0.10787	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.270795	0.29022	17.99	0.95901557216006228	0.28131	0.22471	0.21757	N	AEFDBCI	0.060446	0.11489	N	-0.905654508358822	0.10709	0.5130694	-0.863351331000008	0.12966	0.6700742	0.999949383613064	0.47345	0.580535	0.33130	0	0.601575	0.49859	0	0.687007	0.62461	0	0.604944	0.38103	0	.	.	2.94	-1.76	0.07574	1.846000	0.38929	1.434000	0.26471	0.484000	0.22197	0.668000	0.28331	0.998000	0.33993	0.637000	0.32341	0.2901:0.1512:0.4053:0.1534	1.259	0.01877	759	0.50631	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006055	0.000000	0.006410	0.000000	0.000000	0.015152	0.014423	0.013333	0.02632	76.86	21	chr7	102248627	.	G	A	76.86	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=316;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=-0.789;SOR=0.527	GT:AD:DP:GQ:PL	0/1:14,5:19:90:90,0,419	18	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	635.49	33	chr7	102934282	.	G	C	635.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.875;DP=1880;ExcessHet=0.7564;FS=169.914;InbreedingCoeff=-0.1189;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.672;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,34:150:99:0|1:102934282_G_C:207,0,3879:102934282	15	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,34:150:99:0|1:102934282_G_C:207,0,3879:102934282	10	0	8	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.82	110	chr7	105614066	.	G	C	302.82	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.972;DP=2197;ExcessHet=0.7564;FS=135.624;InbreedingCoeff=-0.2184;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.08;SOR=10.318	GT:AD:DP:GQ:PL	0/1:103,36:139:99:149,0,2059	10	0	4	5
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	1	1516	5	0	0	5	0.00164636	0.5408	0.332	YES	19881	Pendred_syndrome|Rare_genetic_deafness|SLC26A4-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:C5680250,Orphanet:96210|.|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2969.33	36	chr7	107689054	.	T	C	2969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.691;DP=864;ExcessHet=0;FS=7.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.072;SOR=0.382	GT:AD:DP:GQ:PL	0/1:98,119:217:99:2983,0,2553	18	0	1	0
chr7	117315153	117315153	C	T	exonic	WNT2	.	nonsynonymous SNV	WNT2:NM_003391:exon3:c.G506A:p.R169H	.	427	1094	1	0	0	1	0.00045683	.	.	.	2236777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.596	0.0709986840213	.	.	0.0002	0	0	0.0002	0	0.0002	0.0022	6.057e-05	0.0001552	24	154602	rs200665306	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	2.236e-05	0	7.557e-05	0.0002	0.0007	0.0002	0.0001	3.478e-05	7.879e-05	7.874e-05	8.994e-05	6.713e-05	0.0001	4.493e-05	3.51e-05	4.765e-05	3.339e-05	4.811e-05	0	6.538e-05	0	0	9.418e-05	0	0.0001	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.993	0.65571	D	0.932	0.66722	D	0.000002	0.62929	D	0.059928	0.997951	0.44355	D	2.965	0.85198	M	-1.2	0.78537	T	-3.68	0.70314	D	0.417	0.45709	0.420	0.89392	D	0.668	0.88493	D	10	0.75570786	0.75966	D	0.070999	0.71153	D	0.596	0.83965	0.737	0.86978	0.76563709835	0.76349	0.5030799607128912	0.50229	0.789483528885	0.65700	0.43928360939	0.30479	T	0.943403	0.99129	D	-0.129614	0.31557	T	-0.144523	0.59723	T	0.835567355155945	0.48969	D	0.979152	0.92740	D	0.6713239	0.76503	0.63981813	0.78961	0.6713239	0.76505	0.63981813	0.78961	-9.412	0.70310	D	.	.	0.118	0.24054	B	.	.	5.008927	0.83172	28.0	0.99929519301911718	0.99279	0.90552	0.51822	D	AEFBI	0.588829	0.58595	D	0.816072503930309	0.87100	9.103119	0.776337059423061	0.88105	9.45879	0.912909786652349	0.26408	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	3.066000	0.49695	7.711000	0.66806	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	20.096	0.97848	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1505.33	33	chr7	117315153	.	C	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=761;ExcessHet=0;FS=3.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.897;SOR=1.016	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1519,0,1769	18	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.07895	6862.79	43	chr7	127584383	.	C	T	6862.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.111;DP=1094;ExcessHet=0.3672;FS=1.096;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.496;SOR=0.74	GT:AD:DP:GQ:PL	0/1:76,82:158:99:2142,0,2076	16	0	3	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	2047.83	35	chr7	127598540	.	C	T	2047.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=794;ExcessHet=0.119;FS=1.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.872;SOR=0.845	GT:AD:DP:GQ:PL	0/1:45,41:86:99:940,0,1086	17	0	2	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,26:218:99:0|1:128479325_T_C:474,0,7956:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,26:218:99:0|1:128479325_T_C:474,0,7956:128479325	3	0	9	7
chr7	134178591	134178591	C	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon10:c.C1196T:p.P399L,LRGUK:NM_001365701:exon10:c.C1196T:p.P399L,LRGUK:NM_144648:exon10:c.C1196T:p.P399L	.	432	1061	28	1	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0420747188032	0.0038	0.00159744	0.0041	0.0013	0.0089	0	0.0067	0.0048	0.0078	0.0008	0.0039715	614	154602	rs61749957	0.0037	0.0038	0.0038	0.0037	0.0286	0.0037	0.0036	0.0250	0.0237	0.0017	0.0064	0.0049	2.526e-05	0.0057	0.0286	0.0038	0.0046	0.0009	0.0032	0.0032	0.0033	0.0031	0.0043	0.0030	0.0029	0.0039	0.0037	0.0009	0	0.0042	0.0043	0	0.0061	0.0170	0.0043	0.0062	0.0002	0.018	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	1.19	0.37578	T	-7.13	0.94048	D	0.814	0.80964	-0.7147	0.59722	T	0.180	0.52660	T	10	0.009337038	0.00211	T	0.042075	0.60271	D	0.382	0.69946	.	.	0.596121774949	0.59291	0.6002376109370438	0.59954	0.312835549356	0.33584	0.587603807449	0.51156	T	0.022775	0.17502	T	-0.202682	0.20419	T	-0.0614425	0.66232	T	0.0413603651852104	0.03938	T	0.906109	0.66926	D	0.39795908	0.60591	0.4408099	0.67387	0.39795908	0.60591	0.4408099	0.67387	-10.618	0.77522	D	.	.	0.392	0.63806	A	.;.	.;.	5.308531	0.89112	29.9	0.99884319142461342	0.95970	0.95932	0.66779	D	AEFI	0.721614	0.67181	D	0.805177071810887	0.86431	8.882677	0.793317856094421	0.89325	9.928889	0.999999999996667	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	6.821000	0.75062	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:1.0:0.0:0.0	18.483	0.90768	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	0.024673	0.020202	0.033967	0.052632	0.000000	0.017241	0.006098	0.007576	0.02632	1028.33	33	chr7	134178591	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.849;DP=720;ExcessHet=0;FS=1.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.35;SOR=0.479	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1042,0,1198	18	0	1	0
chr7	139231951	139231951	G	C	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon1:c.G467C:p.R156P	.	414	1099	9	0	0	9	0.00407793	0.2541	0.448	.	710819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0065	0.00519169	0.0075	0.0011	0.0062	0.0001	0.0105	0.0108	0.0074	0.0019	0.0070504	1090	154602	rs141209093	0.0084	0.0084	0.0085	0.0084	0.0096	0.0083	0.0083	0.0094	0.0094	0.0010	0.0069	0.0036	2.776e-05	0.0096	0.0078	0.0096	0.0078	0.0019	0.0071	0.0072	0.0074	0.0068	0.0117	0.0068	0.0067	0.0110	0.0107	0.0014	0.0011	0.0067	0.0029	0.0002	0.0086	0.0034	0.0117	0.0100	0.0017	0.004	0.65419	D	0.143	0.33219	T	0.876	0.48154	P	0.327	0.41976	B	0.109816	0.19468	N	0.510471	0.999981	0.54805	D	1.24	0.30952	L	1.3	0.35590	T	-1.83	0.42957	N	0.41	0.45047	-0.9811	0.34748	T	0.048	0.20513	T	10	0.006573856	0.00149	T	.	.	.	0.193	0.47281	.	.	0.0675242888579	0.06100	0.1881890492017854	0.18736	0.167797391371	0.18917	0.61440384388	0.54937	T	0.174	0.52374	T	-0.304387	0.08252	T	-0.196381	0.54990	T	0.01703467782003	0.00451	T	0.777822	0.41150	T	0.51757896	0.68120	0.61401516	0.77537	0.51757896	0.68121	0.61401516	0.77538	-2.776	0.07964	T	.	.	0.363	0.57411	A	.	.	4.261129	0.64760	24.7	0.99450904452626188	0.65274	0.85155	0.44264	D	AEFDGBCI	0.872707	0.79469	D	0.308146102837721	0.56565	3.82148	0.316999960761909	0.56540	3.817293	0.99999999995234	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	3.49	3.49	0.39065	2.880000	0.48228	11.410000	0.92689	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.146	0.72337	917	0.20147	.	.	.	FMC1	Pituitary	.	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	0.006270	0.005495	0.006831	0.009554	0.000000	0.000000	0.003185	0.000000	0.02632	1052.33	37	chr7	139231951	.	G	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=715;ExcessHet=0;FS=2.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.561;SOR=0.394	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1066,0,856	18	0	1	0
chr7	140544567	140544583	CAAGAGCGACTGTCATT	-	exonic	DENND2A	.	frameshift deletion	DENND2A:NM_001318053:exon14:c.2362_2378del:p.N788Dfs*19	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.083e-05	0	0	0	0	1.782e-05	0	0.0005	3.84e-05	1	26028	rs764624684	6.508e-05	6.499e-05	4.226e-05	8.814e-05	0.0009	5.436e-05	5.049e-05	0.0006	0.0006	0	0	0	0	0	0.0009	1.351e-05	0.0001	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1679.29	39	chr7	140544566	.	CCAAGAGCGACTGTCATT	C	1679.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.503;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=1.53;SOR=0.655	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1693,0,1735	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|1:73,24:97:99:0|1:143478290_A_G:309,0,2661:143478290	9	0	9	1
chr7	149879651	149879651	C	A	exonic	ATP6V0E2	.	nonsynonymous SNV	ATP6V0E2:NM_001100592:exon3:c.C616A:p.Q206K,ATP6V0E2:NM_001289990:exon4:c.C685A:p.Q229K,ATP6V0E2:NM_001367788:exon4:c.C421A:p.Q141K,ATP6V0E2:NM_001367792:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367793:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367794:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367795:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367796:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367797:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367791:exon5:c.C301A:p.Q101K	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0003	0.00459265	0.0021	0	0.0008	0	0.0002	0.0004	0.0022	0.0284	0.001727	267	154602	rs201502653	0.0011	0.0013	0.0007	0.0016	0.0191	0.0011	0.0011	0.0182	0.0178	3.609e-05	0.0002	0	2.934e-05	0	0.0031	0.0003	0.0010	0.0191	0.0007	0.0007	0.0004	0.0010	0.0156	0.0006	0.0006	0.0127	0.0117	4.812e-05	0	6.534e-05	0	0	0	0	0.0004	0.0009	0.0156	0.0	0.91255	D	0.0	0.92824	D	0.898	0.52538	P	0.447	0.52426	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.26	0.11185	N	0.102	0.08646	-1.0607	0.11582	T	0.051	0.21767	T	8	0.00352332	0.00063	T	.	.	.	0.046	0.12618	.	.	0.16115917748	0.15686	0.00876500178624088	0.00840	0.254239998198	0.27993	0.301856666803	0.10678	T	.	.	.	-0.517716	0.00454	T	-0.50216	0.22123	T	0.0246623905506258	0.01229	T	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-4.174	0.26374	T	.	.	0.139	0.30476	B	.;.;.;.	.;.;.;.	0.142294	0.05360	1.843	0.90504421581471273	0.19761	0.08883	0.14744	N	AEFBCI	0.068945	0.13625	N	-0.610662937885763	0.18623	0.9683536	-0.783167298757991	0.14907	0.7813976	0.991873855087694	0.32639	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.03	1.08	0.19456	0.309000	0.19094	-0.712000	0.07745	0.537000	0.25018	0.007000	0.17678	0.000000	0.08366	0.081000	0.17303	0.0:0.6814:0.3186:0.0	6.227	0.19925	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	0.007049	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.026515	0.02632	1063.33	36	chr7	149879651	.	C	A	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.502;SOR=0.78	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1077,0,627	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	0/1:254,99:353:99:1622,0,8122	1	0	18	0
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.018652	0.007937	0.019284	0.026316	0.071429	0.008772	0.018657	0.017241	0.07895	210.79	184	chr7	152265205	.	C	G	210.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.079;DP=3675;ExcessHet=0.3672;FS=1.96;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.16;MQRankSum=-5.69;QD=0.25;ReadPosRankSum=-2.272;SOR=1.05	GT:AD:DP:GQ:PL	0/1:258,34:292:70:70,0,6963	16	0	3	0
chr8	166405	166405	C	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.G620C:p.C207S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00104509009677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.348e-06	6.232e-06	5.13e-06	9.373e-06	8.112e-06	1.96e-06	5.4e-07	1.35e-06	5.1e-07	0	0	0	0	0	0	8.112e-06	4.19e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	0.004351	0.33837	N	0.134015	1	0.08975	N	-0.975	0.01213	N	1.25	0.36512	T	2.7	0.00190	N	0.079	0.05414	-0.9479	0.41330	T	0.021	0.08639	T	10	0.047605813	0.04099	T	0.001045	0.01167	T	0.061	0.17616	0.472	0.54699	0.0401082797425	0.02173	0.17172873827331003	0.17092	.	.	0.311753243208	0.12171	T	0.005993	0.05431	T	-0.323474	0.06617	T	-0.702425	0.05694	T	0.0675660818815231	0.08305	T	0.616838	0.23625	T	0.062261052	0.12985	0.065350495	0.13232	0.062261052	0.12985	0.065350495	0.13232	-3.422	0.15354	T	.	.	0.113	0.22428	B	.	.	0.352541	0.07257	3.857	0.68040857203906435	0.08537	0.00837	0.03359	N	AEFI	0.026595	0.02024	N	-1.13685051193403	0.05999	0.2750161	-1.02053598050707	0.09334	0.4637884	1.20189838713818E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	0.856	0.18156	-0.406000	0.07249	-1.308000	0.05755	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.507:0.493:0.0	6.849	0.23189	994	0.00715	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	59.57	4	chr8	166405	.	C	G	59.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=159;ExcessHet=0;FS=6.021;InbreedingCoeff=0.0198;MLEAC=1;MLEAF=0.026;MQ=22.81;MQRankSum=1.15;QD=14.89;ReadPosRankSum=1.15;SOR=2.788	GT:AD:DP:GQ:PL	0/1:1,3:4:13:73,0,13	18	0	1	0
chr8	6514777	6514777	G	A	exonic	ANGPT2	.	nonsynonymous SNV	ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V	.	434	1085	3	0	0	3	0.00138058	0.0020	0.072	.	711600	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.188	.	0.0030	0.00199681	0.0048	0.0004	0.0006	0	0.0038	0.0052	0.0055	0.0121	0.0045795	708	154602	rs145141058	0.0040	0.0040	0.0036	0.0044	0.0126	0.0039	0.0039	0.0120	0.0117	0.0003	0.0006	0.0048	7.558e-05	0.0046	0.0016	0.0037	0.0034	0.0126	0.0027	0.0027	0.0025	0.0030	0.0083	0.0025	0.0024	0.0063	0.0056	0.0007	0	0.0018	0.0035	0	0.0042	0	0.0038	0.0019	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.027	0.19556	B	0.007	0.14941	B	0.000000	0.84330	D	0.049957	1	0.81001	D	-1.05	0.01069	N	-0.17	0.65563	T	1.73	0.00652	N	0.442	0.48134	-0.9230	0.45141	T	0.054	0.22921	T	10	0.012324214	0.00265	T	.	.	.	0.188	0.46444	.	.	0.665734656745	0.66292	0.6904965237364573	0.68989	0.253413253526	0.27906	0.442052185535	0.30858	T	0.093285	0.39180	T	-0.390887	0.02655	T	-0.32387	0.42148	T	0.02123464080639	0.00825	T	0.904909	0.66542	D	0.2685261	0.49924	0.12397222	0.29888	0.2685261	0.49924	0.12397222	0.29887	-4.246	0.27768	T	.	.	0.125	0.33891	B	.;.;.;.	.;.;.;.	2.264771	0.28940	17.96	0.66966079006661661	0.08214	0.97755	0.76898	D	AEFBI	0.911838	0.87165	D	-0.465373785404589	0.23222	1.245512	-0.171558742133226	0.32588	1.855526	0.999224613154397	0.38808	0.706548	0.73137	0	0.601575	0.49859	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.745000	0.74658	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0859:0.0:0.9141:0.0	10.740	0.45346	975	0.05339	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1832.83	39	chr8	6514777	.	G	A	1832.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.231;DP=811;ExcessHet=0.119;FS=7.615;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.744;SOR=0.319	GT:AD:DP:GQ:PL	0/1:48,42:90:99:985,0,1347	17	0	2	0
chr8	7972841	7972841	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G413A:p.S138N	.	1295	213	2	12	0	26	0.0575221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs372606266	3.108e-05	0.0004	2.151e-05	3.998e-05	0.0003	8.26e-06	4.29e-06	7.023e-05	3.687e-05	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.01	0.25309	L	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.06623182	0.09054	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.017258727964589052	0.01680	.	.	0.532343745232	0.43365	T	0.002959	0.02360	T	-0.488973	0.00658	T	-0.590721	0.13603	T	.	.	.	0.0100561	0.00053	T	0.08905508	0.20795	0.14154468	0.33703	0.08905508	0.20795	0.14154468	0.33702	-4.58	0.31920	T	.	.	0.084	0.09481	B	.	.	0.263459	0.06420	2.886	0.62001244642472464	0.06851	0.00067	0.00479	N	AEFI	.	.	.	.	.	.	.	.	.	3.24806977993831E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0790037	0.18180	0.45	-0.9	0.10008	-2.197000	0.01325	-5.556000	0.01676	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	81.87	.	chr8	7972841	.	C	T	81.87	.	AC=2;AF=0.143;AN=14;DP=118;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=29;QD=26.99;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7972831_A_G:90,6,0:7972831	6	1	0	12
chr8	9141069	9141069	C	G	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G583C:p.D195H,PPP1R3B:NM_024607:exon2:c.G583C:p.D195H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0254201451235	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs759245095	1.163e-05	1.163e-05	9.528e-06	1.375e-05	0.0007	7.08e-06	5.79e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.116	0.36497	T	0.191	0.29411	B	0.125	0.32635	B	0.051708	0.22958	N	0.510674	0.996896	0.22865	N	0.905	0.23240	L	-0.03	0.63077	T	-1.74	0.41239	N	0.113	0.12913	-0.9029	0.47684	T	0.167	0.50615	T	10	0.22667053	0.39528	T	0.02542	0.48390	D	0.059	0.16972	0.429	0.47680	0.692045797605	0.68939	0.4122798324880351	0.41143	0.0530260791005	0.05844	0.444168806076	0.31147	T	0.108478	0.42154	T	-0.304287	0.08260	T	-0.438195	0.29012	T	0.078228090525143	0.09759	T	.	.	.	0.08058182	0.18473	0.106027536	0.25498	0.08058182	0.18473	0.106027536	0.25498	-6.581	0.50907	T	.	.	0.141	0.31023	B	.;.	.;.	3.004571	0.40157	21.1	0.9491612465968623	0.25783	0.64507	0.32429	D	AEFBCI	0.104446	0.20897	N	-0.497451366501735	0.22164	1.181555	-0.410318716433772	0.24695	1.353724	0.995157944873276	0.33979	0.645754	0.44609	0	0.633656	0.55848	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.87	2.74	0.31352	0.964000	0.28903	2.247000	0.31658	-0.173000	0.11020	0.995000	0.38783	0.983000	0.30585	0.494000	0.28882	0.1242:0.6605:0.2153:0.0	12.846	0.57214	942	0.12992	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain;CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3398.33	35	chr8	9141069	.	C	G	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=1030;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-2.585;SOR=0.657	GT:AD:DP:GQ:PL	0/1:128,127:255:99:3412,0,3280	18	0	1	0
chr8	9141196	9141196	C	G	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G456C:p.Q152H,PPP1R3B:NM_024607:exon2:c.G456C:p.Q152H	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0382056871235	.	.	2.472e-05	9.63e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs762721500	1.71e-05	1.71e-05	1.633e-05	1.788e-05	0.0007	1.174e-05	9.92e-06	0.0002	0.0001	2.987e-05	0	0	0.0001	0	0.0007	2.698e-06	0	0.0001	3.942e-05	3.94e-05	5.139e-05	2.689e-05	0.0004	1.715e-05	1.129e-05	6.804e-05	2.848e-05	7.238e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.004	0.65419	D	0.011	0.64786	D	0.86	0.47373	P	0.795	0.57940	P	0.000002	0.62929	D	0.098174	0.988911	0.40852	D	0.885	0.21608	L	-0.05	0.63403	T	-1.98	0.45769	N	0.113	0.13484	-0.5308	0.67511	T	0.286	0.65763	T	10	0.5109427	0.62093	D	0.038206	0.58084	D	0.191	0.46948	0.503	0.59615	0.835545258721	0.83398	0.5841857213486812	0.58347	0.0401716212852	0.04299	0.426544964314	0.28736	T	0.189763	0.54409	T	-0.235827	0.15885	T	-0.339857	0.40360	T	0.202674552798271	0.20562	T	.	.	.	0.30045876	0.52946	0.28646788	0.54654	0.30045876	0.52946	0.28646788	0.54653	-6.506	0.50333	T	.	.	0.266	0.50054	B	.;.	.;.	3.301191	0.45322	22.1	0.99659671249202364	0.77820	0.90074	0.50971	D	AEFBCI	0.556785	0.56668	D	0.318404135599399	0.57094	3.875	0.36403741834627	0.59357	4.112941	0.999985791684002	0.51787	0.722319	0.85440	0	0.633656	0.55848	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.87	4.99	0.65942	1.589000	0.36253	0.615000	0.20071	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.8666:0.1333:0.0	16.171	0.81632	937	0.14592	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain;CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2807.33	35	chr8	9141196	.	C	G	2807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.775;DP=970;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.6;SOR=0.93	GT:AD:DP:GQ:PL	0/1:95,105:200:99:2821,0,2716	18	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,110:340:99:0|1:10609943_C_T:2214,0,8103:10609943	6	0	8	5
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|1:229,110:339:99:0|1:10609943_C_T:2218,0,7998:10609943	6	0	10	3
chr8	10611841	10611841	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T2257C:p.S753P	Occult macular dystrophy, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00743253798928	.	0.000599042	0.0005	0.0001	8.652e-05	0	0	0	0.0011	0.0035	0.0004075	63	154602	rs542094183	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0035	2.987e-05	0	0	0	0	0.0012	8.993e-07	9.935e-05	0.0039	0.0001	0.0001	8.994e-05	0.0001	0.0037	7.572e-05	6.278e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.286	0.15201	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	3.5	0.05014	T	-1.47	0.35991	N	0.107	0.09207	-0.9693	0.37345	T	0.012	0.04416	T	9	0.0060776174	0.00137	T	0.007433	0.19712	T	0.124	0.34239	0.167	0.07186	0.101711395817	0.09552	0.07414307052700345	0.07351	.	.	0.273312985897	0.06576	T	0.078055	0.35802	T	-0.665728	0.00058	T	-0.731155	0.04276	T	0.0767435897121003	0.09565	T	0.30037	0.05618	T	0.18010922	0.39116	0.09174957	0.21587	0.18010922	0.39115	0.09174957	0.21586	-3.989	0.23639	T	0.1320578362291822	0.14045	0.101	0.17360	B	.	.	0.677365	0.10460	7.177	0.94129970251491779	0.24312	0.02226	0.06472	N	AEFDBI	0.061789	0.11836	N	-0.693117151607074	0.16216	0.8242495	-0.867113635471161	0.12877	0.6649246	1.05183627587406E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.33	-1.44	0.08391	0.187000	0.16806	0.950000	0.22916	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.426:0.0:0.3676:0.2064	3.259	0.06439	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	.	.	.	.	.	.	.	.	0.02632	1491.33	87	chr8	10611841	.	A	G	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.583;DP=1436;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=1.25;SOR=0.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,39:68:99:0|1:10611830_G_A:1505,0,1082:10611830	18	0	1	0
chr8	10612839	10612839	-	CT	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.1258_1259insAG:p.V420Efs*71	Occult macular dystrophy, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	537520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.514e-06	0	0	0	0	1.554e-05	0	0	6.5e-06	1	154602	rs764382843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1127.29	36	chr8	10612839	.	A	ACT	1127.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=836;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.843;SOR=0.859	GT:AD:DP:GQ:PL	0/1:27,34:61:99:1141,0,893	18	0	1	0
chr8	17962101	17962101	C	T	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.C2390T:p.T797I,PCM1:NM_001352652:exon15:c.C2390T:p.T797I,PCM1:NM_001315507:exon16:c.C2390T:p.T797I,PCM1:NM_001315508:exon16:c.C2393T:p.T798I,PCM1:NM_001352634:exon16:c.C2390T:p.T797I,PCM1:NM_001352639:exon16:c.C2390T:p.T797I,PCM1:NM_001352640:exon16:c.C2393T:p.T798I,PCM1:NM_001352641:exon16:c.C2390T:p.T797I,PCM1:NM_001352644:exon16:c.C2390T:p.T797I,PCM1:NM_001352646:exon16:c.C2390T:p.T797I,PCM1:NM_001352649:exon16:c.C2393T:p.T798I,PCM1:NM_001352651:exon16:c.C2507T:p.T836I,PCM1:NM_001352654:exon16:c.C2390T:p.T797I,PCM1:NM_001352658:exon16:c.C2390T:p.T797I,PCM1:NM_006197:exon16:c.C2390T:p.T797I,PCM1:NM_001352632:exon17:c.C2507T:p.T836I,PCM1:NM_001352636:exon17:c.C2510T:p.T837I,PCM1:NM_001352637:exon17:c.C2507T:p.T836I,PCM1:NM_001352643:exon17:c.C2507T:p.T836I,PCM1:NM_001352655:exon17:c.C2390T:p.T797I,PCM1:NM_001352635:exon18:c.C2393T:p.T798I,PCM1:NM_001352638:exon18:c.C2507T:p.T836I,PCM1:NM_001352642:exon18:c.C2390T:p.T797I,PCM1:NM_001352645:exon18:c.C2390T:p.T797I,PCM1:NM_001352648:exon18:c.C2393T:p.T798I,PCM1:NM_001352653:exon18:c.C2390T:p.T797I,PCM1:NM_001352656:exon18:c.C2390T:p.T797I,PCM1:NM_001352657:exon18:c.C2390T:p.T797I,PCM1:NM_001352633:exon19:c.C2507T:p.T836I,PCM1:NM_001352650:exon19:c.C2507T:p.T836I	.	.	.	.	.	.	.	.	.	.	.	2367701	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00625672700444	.	.	5.089e-05	0	0	0	0	7.462e-05	0	7.25e-05	3.23e-05	5	154602	rs756563788	4.796e-05	4.788e-05	4.09e-05	5.511e-05	0.0002	3.866e-05	3.546e-05	4.531e-05	4.118e-05	0	0	0	0	0	0.0002	5.673e-05	3.317e-05	4.656e-05	5.914e-05	5.91e-05	6.424e-05	5.38e-05	8.819e-05	3.077e-05	2.21e-05	3.761e-05	2.575e-05	4.827e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.209	0.29688	T	0.202	0.30241	T	.	.	.	.	.	.	0.017227	0.27776	N	0.432957	0.989464	0.24292	N	.	.	.	3.61	0.27032	T	-1.58	0.38151	N	0.093	0.12770	-1.0694	0.09545	T	0.035	0.15204	T	10	0.09077376	0.15844	T	0.006257	0.16435	T	0.017	0.02790	0.165	0.06955	0.24896430686	0.24499	0.10842497291168667	0.10771	.	.	0.290357470512	0.08974	T	.	.	.	-0.445526	0.01200	T	-0.695597	0.06069	T	0.0476945237497298	0.05088	T	0.808919	0.45897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19438	B	.;.;.;.	.;.;.;.	2.015156	0.25606	16.82	0.68863509388218991	0.08790	0.82343	0.41585	D	AEFDBIJ	0.095015	0.19204	N	-0.538217670117227	0.20855	1.10251	-0.432601882679581	0.24046	1.314643	0.99457099425074	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.7	0.31007	1.253000	0.32488	1.790000	0.28791	0.599000	0.40250	0.994000	0.38300	0.008000	0.19753	0.096000	0.18090	0.2661:0.5958:0.0:0.1381	6.139	0.19466	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2174.33	33	chr8	17962101	.	C	T	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.303;DP=897;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.556;SOR=0.506	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2188,0,1940	18	0	1	0
chr8	22288600	22288600	A	G	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon8:c.A920G:p.Q307R,PIWIL2:NM_001330480:exon8:c.A920G:p.Q307R,PIWIL2:NM_018068:exon8:c.A920G:p.Q307R	.	436	1079	6	1	0	8	0.00369344	.	.	.	3369004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00512999823641	0.0005	.	0.0009	9.612e-05	0.0010	0	0	0.0011	0.0033	0.0011	0.000718	111	154602	rs139570286	0.0007	0.0007	0.0007	0.0008	0.0137	0.0007	0.0007	0.0113	0.0104	0.0003	0.0013	0.0064	0	1.872e-05	0.0137	0.0005	0.0013	0.0012	0.0005	0.0005	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0006	0.0001	0	0.0012	0.0055	0	0	0.0136	0.0004	0.0019	0.0010	0.717	0.03972	T	0.79	0.04416	T	0.011	0.15914	B	0.014	0.16862	B	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	1.365	0.34158	L	2.9	0.10101	T	-1.4	0.35399	N	0.767	0.79986	-1.0005	0.29774	T	0.021	0.08963	T	10	0.03648454	0.01948	T	0.00513	0.13032	T	0.188	0.46444	.	.	0.435043484731	0.43121	0.605096334858457	0.60440	0.0750347424609	0.08415	0.450922548771	0.32071	T	0.077293	0.35622	T	-0.181355	0.23533	T	-0.0633593	0.66097	T	0.455274134874344	0.30991	T	0.832417	0.50060	T	0.29646942	0.52586	0.21095243	0.45504	0.29646942	0.52586	0.21095243	0.45503	-8.883	0.66940	D	.	.	0.188	0.44617	B	.;.;.;.	.;.;.;.	3.662309	0.52037	23.2	0.99603220228445932	0.74338	0.98170	0.80208	D	AEFBI	0.904989	0.85595	D	-0.0508150995934382	0.39565	2.33531	0.184689841771301	0.49009	3.109298	0.999999998808691	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.478617	0.07155	0	.	.	5.88	5.88	0.94564	8.485000	0.90290	11.199000	0.88958	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	1.0:0.0:0.0:0.0	15.258	0.73293	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.009511	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	1161.33	33	chr8	22288600	.	A	G	1161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.212;SOR=0.723	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1175,0,1039	18	0	1	0
chr8	22311211	22311211	A	C	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon16:c.A1900C:p.M634L,PIWIL2:NM_001330480:exon16:c.A1900C:p.M634L,PIWIL2:NM_018068:exon16:c.A1900C:p.M634L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00387253808631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.383	0.15842	T	0.005	0.12996	B	0.004	0.10090	B	0.000011	0.62929	D	0.198523	0.998905	0.45657	D	1.775	0.45938	L	2.68	0.12371	T	-0.74	0.20791	N	0.389	0.43803	-1.1163	0.02580	T	0.036	0.15683	T	10	0.30078137	0.47623	T	0.003873	0.09086	T	0.090	0.26093	0.567	0.68901	0.384584525793	0.38071	0.4003216445435457	0.39947	0.0625795491444	0.06963	0.480480074883	0.36123	T	0.087568	0.37971	T	-0.212122	0.19080	T	-0.542475	0.18054	T	0.716357529163361	0.41515	D	0.785321	0.42297	T	0.23371388	0.46180	0.24801284	0.50343	0.23371388	0.46180	0.24801284	0.50342	-6.368	0.49260	T	.	.	0.142	0.34732	B	.;.;.;.	.;.;.;.	2.803996	0.36894	20.4	0.95914395652185935	0.28169	0.76794	0.37692	D	AEFBCI	0.367167	0.45472	N	-0.0470929301591825	0.39732	2.34785	0.135677500936955	0.46388	2.885556	0.972901751470781	0.29410	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	3.295000	0.51501	11.261000	0.91078	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.807	0.69594	599	0.68140	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1156.33	34	chr8	22311211	.	A	C	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=778;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.79;SOR=0.633	GT:AD:DP:GQ:PL	0/1:86,52:138:99:1170,0,1983	18	0	1	0
chr8	22585023	22585023	G	A	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_001368120:exon4:c.G322A:p.V108M,PDLIM2:NM_176871:exon4:c.G322A:p.V108M,PDLIM2:NM_198042:exon4:c.G322A:p.V108M,PDLIM2:NM_021630:exon5:c.G1072A:p.V358M	.	.	.	.	.	.	.	.	.	.	.	4050877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00992634506106	.	.	8.259e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs369965465	2.395e-05	2.463e-05	2.859e-05	1.926e-05	0.0002	1.739e-05	1.539e-05	1.627e-05	1.382e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0002	2.338e-05	4.968e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.09	0.44029	T	0.054	0.47097	T	0.974	0.61118	D	0.252	0.51564	B	0.835464	0.06967	N	1.091000	1	0.08975	N	1.65	0.42232	L	2.7	0.12162	T	-0.11	0.13611	N	0.183	0.22614	-1.0336	0.19300	T	0.042	0.18118	T	10	0.0893133	0.15459	T	0.009926	0.25856	T	0.079	0.23065	0.25	0.18757	0.288352970974	0.28455	0.23026959857131576	0.22941	0.193480424413	0.21683	0.297068357468	0.09965	T	0.01261	0.41617	T	-0.302905	0.08387	T	-0.572248	0.15245	T	0.105343529413332	0.12934	T	0.69513	0.32156	T	0.03408981	0.03758	0.050430886	0.07914	0.03408981	0.03758	0.050430886	0.07914	-5.549	0.44180	T	.	.	0.094	0.23395	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.766834	0.11369	7.982	0.99509362677637969	0.68499	0.03958	0.09362	N	AEFDGBHCI	0.043414	0.06861	N	-0.60022563012708	0.18937	0.9872615	-0.723223945701933	0.16383	0.8664039	0.999999889729954	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	5.4	0.857	0.18162	-0.393000	0.07366	0.379000	0.17760	-0.148000	0.12190	0.000000	0.06391	0.006000	0.19429	0.030000	0.13115	0.2943:0.2541:0.2895:0.1621	0.599	0.00693	863	0.32847	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1269.33	63	chr8	22585023	.	G	A	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.043;DP=1013;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.25;SOR=0.64	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1283,0,901	18	0	1	0
chr8	23007425	23007425	G	A	exonic	RHOBTB2	.	nonsynonymous SNV	RHOBTB2:NM_001160037:exon5:c.G1201A:p.V401M,RHOBTB2:NM_001374791:exon5:c.G1180A:p.V394M,RHOBTB2:NM_015178:exon5:c.G1180A:p.V394M,RHOBTB2:NM_001160036:exon7:c.G1246A:p.V416M	.	435	1078	9	0	0	9	0.00415704	.	.	.	1600843	RHOBTB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	0.0175831749477	0.0004	.	0.0007	0	8.639e-05	0	0	0.0008	0.0011	0.0021	0.000608	94	154602	rs146017675	0.0005	0.0005	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	0	2.236e-05	0.0104	2.519e-05	0	0.0021	0.0001	0.0012	0.0022	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0	0	0.0063	0	0	0.0034	0.0001	0.0019	0.0014	0.184	0.21634	T	0.202	0.27414	T	0.619	0.39896	P	0.675	0.53279	P	0.000405	0.44736	D	0.191733	0.989003	0.40869	D	1.15	0.29295	L	-0.25	0.67011	T	-0.5	0.15782	N	0.276	0.36359	-0.4905	0.68991	T	0.331	0.69826	T	10	0.009938806	0.00223	T	0.017583	0.39335	T	0.199	0.48268	.	.	0.570695249167	0.56736	0.4397869780712526	0.43895	0.557296526033	0.52351	0.65321791172	0.60443	T	0.328183	0.69862	T	-0.352977	0.04543	T	-0.285041	0.46286	T	0.086763589009645	0.10830	T	0.952205	0.81731	D	0.045605917	0.07495	0.07011369	0.14857	0.04551959	0.07464	0.076186895	0.16849	-5.035	0.37218	T	0.1870918858929928	0.24379	0.153	0.33913	B	.;.;.	.;.;.	2.784753	0.36587	20.3	0.99888463966361862	0.96281	0.89568	0.50115	D	AEFDBI	0.363131	0.45214	N	0.258930368910378	0.54083	3.57472	0.306696190387311	0.55931	3.756132	0.999999896177258	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.474000	0.21858	2.135000	0.30806	-0.126000	0.13398	0.142000	0.23535	1.000000	0.68203	0.997000	0.79791	0.0864:0.0:0.9136:0.0	11.855	0.51706	917	0.20147	.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	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	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	2673.33	121	chr8	23007425	.	G	A	2673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.579;DP=1909;ExcessHet=0;FS=3.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.038;SOR=0.495	GT:AD:DP:GQ:PL	0/1:83,97:180:99:2687,0,2372	18	0	1	0
chr8	23441694	23441694	G	A	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon8:c.C757T:p.P253S,ENTPD4:NM_004901:exon8:c.C757T:p.P253S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.013955926603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.201	0.34477	T	0.283	0.52883	B	0.223	0.50090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	2.44	0.15145	T	-1.48	0.36189	N	0.721	0.73285	-1.1576	0.00816	T	0.064	0.26420	T	10	0.52877486	0.63062	D	0.013956	0.33748	T	0.148	0.39182	0.331	0.31681	0.65055306113	0.64764	0.53631713733905	0.53556	0.4136943232	0.42065	0.588015317917	0.51214	T	0.010471	0.28168	T	0.0478509	0.58067	T	-0.169042	0.57530	T	0.813016885587449	0.47262	D	0.916508	0.70155	D	0.19595936	0.41405	0.16814098	0.38750	0.19595936	0.41405	0.16814098	0.38749	-1.966	0.05436	T	.	.	0.139	0.41464	B	.;.;.	.;.;.	4.256322	0.64649	24.7	0.99924034039084109	0.98980	0.99822	0.99687	D	AEFDBI	0.903572	0.85282	D	0.531172151754029	0.68942	5.287336	0.631501850209019	0.77241	6.641314	0.999999999999977	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.335000	0.96432	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.767	0.91842	817	0.41665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2190.33	34	chr8	23441694	.	G	A	2190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.071;SOR=0.652	GT:AD:DP:GQ:PL	0/1:69,87:156:99:2204,0,1764	18	0	1	0
chr8	27776455	27776455	C	G	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon3:c.C147G:p.C49W	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	1	1507	13	1	0	15	0.00495213	.	.	YES	193459	Roberts-SC_phocomelia_syndrome|Roberts_syndrome|not_provided|not_specified	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:CN300934|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.084	.	0.0002	0.00279553	0.0014	0	0.0003	0	0	0.0001	0.0012	0.0092	0.0011513	178	154602	rs201989984	0.0006	0.0006	0.0004	0.0009	0.0080	0.0006	0.0006	0.0075	0.0073	9.034e-05	4.537e-05	0	2.521e-05	0	0.0019	0.0002	0.0007	0.0080	0.0004	0.0004	0.0002	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	0	0	6.538e-05	0	0	0	0.0068	0.0002	0.0024	0.0072	0.007	0.61437	D	0.071	0.43531	T	0.507	0.37264	P	0.174	0.35540	B	0.841769	0.09028	N	0.941127	0.999999	0.08975	N	2.39	0.68882	M	0.83	0.64445	T	-3.03	0.68532	D	0.408	0.44857	-0.8353	0.52956	T	0.263	0.63437	T	10	0.004689455	0.00099	T	.	.	.	0.084	0.24469	.	.	0.53754225682	0.53406	0.1545263751527793	0.15373	0.317716590837	0.34012	0.3224401474	0.13790	T	0.132422	0.46249	T	-0.388318	0.02758	T	-0.324313	0.42100	T	0.10607098408987	0.13013	T	0.665133	0.27420	T	0.09479717	0.22296	0.07956851	0.17924	0.05304735	0.09981	0.09146056	0.21504	-6.254	0.48357	T	.	.	0.232	0.46458	B	.;.;.	.;.;.	1.700277	0.21659	15.29	0.93801362242690578	0.23771	0.05429	0.11302	N	AEFBI	0.209358	0.33535	N	-0.663735954243309	0.17061	0.8747441	-0.814382781374597	0.14147	0.7377214	0.999582803695592	0.40607	0.732398	0.92422	0	0.662677	0.63036	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.52	0.263	0.14858	-0.834000	0.04498	-0.217000	0.10799	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4828:0.0:0.5172	7.642	0.27468	895	0.25842	.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	3590.33	34	chr8	27776455	.	C	G	3590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.383;DP=923;ExcessHet=0;FS=3.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.59;SOR=0.535	GT:AD:DP:GQ:PL	0/1:149,146:295:99:3604,0,3968	18	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	972.6	108	chr8	28527857	.	A	C	972.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.292;DP=1867;ExcessHet=1.3;FS=283.872;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=2.46;SOR=11.075	GT:AD:DP:GQ:PL	0/1:151,54:205:99:280,0,3113	10	0	5	4
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,27:91:99:.:.:102,0,1283:.	7	0	11	1
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T	.	399	1115	7	1	0	9	0.00401965	.	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007128	0.006250	0.008403	0.000000	0.000000	0.000000	0.005263	0.000000	0.02632	1758.33	124	chr8	30138668	.	C	T	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1824;ExcessHet=0;FS=3.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-1.263;SOR=0.405	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1772,0,1248	18	0	1	0
chr8	37698489	37698489	G	A	exonic	ZNF703	.	nonsynonymous SNV	ZNF703:NM_025069:exon2:c.G1588A:p.G530R	.	334	1187	1	0	0	1	0.000421053	.	.	.	2352235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.363753692653	.	.	2.374e-05	0	0	0	0	4.548e-05	0	0	6.5e-06	1	154602	rs752257063	2.545e-05	2.599e-05	2.024e-05	3.072e-05	6.002e-05	1.848e-05	1.635e-05	2.073e-05	1.806e-05	0	6.002e-05	0	0	0	0	2.893e-05	0	2.587e-05	4.642e-05	4.623e-05	2.591e-05	6.791e-05	0.0002	2.127e-05	1.538e-05	2.855e-05	1.864e-05	2.434e-05	0	0	0	0	0	0	7.379e-05	0	0.0002	0.003	0.68238	D	0.013	0.63109	D	0.268	0.31720	B	0.037	0.23121	B	0.000055	0.53742	D	0.124830	0.980643	0.39689	D	2.215	0.62545	M	0.89	0.45636	T	-4.53	0.78388	D	0.231	0.25989	-1.0557	0.12855	T	0.080	0.31824	T	10	0.19966716	0.35983	T	0.363754	0.92576	D	0.080	0.23350	0.138	0.04187	0.61879682266	0.61571	0.6461081968694968	0.64545	.	.	0.889600634575	0.95211	D	0.206052	0.56528	T	-0.261418	0.12734	T	-0.503227	0.22014	T	0.875146925449371	0.52501	D	0.994401	0.98139	D	0.4671484	0.65115	0.48599988	0.70250	0.4671484	0.65115	0.48599988	0.70251	-12.353	0.86528	D	.	.	0.859	0.80227	P	.	.	5.400418	0.90437	31	0.99689912378312928	0.79842	0.77807	0.38300	D	AEFDBHCIJ	0.335340	0.43381	N	-0.17774271998666	0.34064	1.939766	-0.090368975738823	0.35788	2.074644	0.999999870446047	0.74766	0.651	0.46895	0	0.627178	0.54094	0	0.503968	0.08637	0	0.683762	0.67416	0	.	.	3.7	2.81	0.31971	5.184000	0.64908	11.541000	0.93133	0.507000	0.23093	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0903:0.0:0.9097:0.0	11.439	0.49332	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	1957.33	39	chr8	37698489	.	G	A	1957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=816;ExcessHet=0;FS=1.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.566;SOR=0.591	GT:AD:DP:GQ:PL	0/1:73,78:151:99:1971,0,1606	18	0	1	0
chr8	52645747	52645747	A	T	exonic	RB1CC1	.	nonsynonymous SNV	RB1CC1:NM_001083617:exon16:c.T3942A:p.N1314K,RB1CC1:NM_014781:exon16:c.T3942A:p.N1314K	Breast cancer, somatic	55	1450	13	4	0	21	0.00718932	.	.	.	711575	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	.	0.0072	0.00439297	0.0069	0.0014	0.0038	0.0035	0.0037	0.0089	0.0078	0.0077	0.0069857	1080	154602	rs34701924	0.0091	0.0091	0.0092	0.0090	0.0102	0.0089	0.0089	0.0100	0.0099	0.0014	0.0037	0.0026	0.0041	0.0046	0.0056	0.0102	0.0080	0.0086	0.0062	0.0062	0.0068	0.0057	0.0103	0.0059	0.0058	0.0097	0.0094	0.0017	0.0011	0.0053	0.0012	0.0015	0.0040	0.0034	0.0103	0.0038	0.0070	0.067	0.35918	T	0.116	0.36497	T	0.999	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.1	0.28011	L	2.32	0.16640	T	-1.2	0.30555	N	0.635	0.64818	-1.0719	0.09001	T	0.043	0.18659	T	10	0.007832736	0.00178	T	.	.	.	0.155	0.40530	0.097	0.01334	0.509732891599	0.50613	0.4158990944525784	0.41505	0.717652907865	0.62052	0.761815488338	0.76199	T	0.401141	0.75853	T	-0.57514	0.00206	T	-0.588537	0.13792	T	0.013866111623155	0.00263	T	0.968503	0.88585	D	0.14467266	0.33196	0.17277671	0.39557	0.1583048	0.35621	0.17277671	0.39556	-3.16	0.11998	T	.	.	0.647	0.73963	P	.;.	.;.	2.948549	0.39226	20.9	0.99748730660268203	0.84077	0.86158	0.45386	D	AEFGBI	0.244300	0.36543	N	0.15688929037468	0.49139	3.11764	0.172542443367372	0.48347	3.051945	0.86274803309782	0.25258	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	0.357000	0.19935	1.284000	0.25370	-0.053000	0.16966	0.993000	0.37899	0.997000	0.33255	0.996000	0.76049	0.8596:0.0:0.1404:0.0	10.089	0.41607	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	0	0	1	0	0.005040	0.005051	0.001359	0.005848	0.000000	0.000000	0.012270	0.003788	0.02632	629.33	36	chr8	52645747	.	A	T	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=679;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.834;SOR=0.922	GT:AD:DP:GQ:PL	0/1:36,27:63:99:643,0,810	18	0	1	0
chr8	53939619	53939619	C	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon2:c.C209A:p.P70H,RGS20:NM_003702:exon2:c.C113A:p.P38H,RGS20:NM_170587:exon3:c.C554A:p.P185H	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0334402456084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs998171987	2.066e-05	2.326e-05	1.779e-05	2.356e-05	0.0012	1.465e-05	1.272e-05	0.0006	0.0004	0	2.314e-05	0	0	0	0.0012	1.083e-05	5.009e-05	8.294e-05	1.97e-05	1.968e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.536e-05	0	0	0	0	1.47e-05	0	0.0002	0.013	0.53900	D	0.05	0.48080	T	0.899	0.51791	P	0.336	0.48765	B	0.000001	0.00162	N	19.212200	1	0.81001	D	0.55	0.14455	N	1.11	0.38883	T	-2.07	0.47344	N	0.285	0.38950	-0.8648	0.50915	T	0.140	0.45960	T	10	0.2159681	0.38165	T	0.03344	0.54981	D	0.125	0.34456	0.131	0.03577	0.814979240977	0.81323	0.23465468153339808	0.23380	0.748255062631	0.63626	0.343361765146	0.16940	T	0.201085	0.55886	T	-0.401006	0.02281	T	-0.549366	0.17387	T	0.315703898668289	0.25647	T	0.846715	0.52823	T	0.16744736	0.37142	0.11100707	0.26772	0.16744736	0.37142	0.11100707	0.26771	-3.74	0.32583	T	.	.	0.118	0.23986	B	.;.;.	.;.;.	2.053233	0.26105	17.00	0.99370034408435448	0.61411	0.85075	0.44178	D	AEFDBI	0.391387	0.46985	N	-0.187543499028085	0.33653	1.911665	-0.279253698820394	0.28783	1.607485	0.999945876568853	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.89	3.03	0.34070	3.056000	0.49616	1.789000	0.28782	0.599000	0.40250	0.888000	0.31154	0.004000	0.18990	0.001000	0.02609	0.0:0.6832:0.3168:0.0	13.987	0.63854	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	0.003024	0.005102	0.001359	0.000000	0.000000	0.008621	0.003067	0.000000	0.02632	628.33	35	chr8	53939619	.	C	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.204;SOR=0.593	GT:AD:DP:GQ:PL	0/1:36,24:60:99:642,0,919	18	0	1	0
chr8	60742450	60742450	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1018G:p.M340V,CHD7:NM_017780:exon2:c.A1018G:p.M340V	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1482	40	0	0	40	0.0133156	.	.	.	101670	not_provided|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0339114867738	0.0056	0.00219649	0.0042	0.0018	0.0027	0	0.0018	0.0063	0.0011	0.0013	0.0046118	713	154602	rs41305525	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0062	0.0073	0.0072	0.0011	0.0037	0.0091	2.519e-05	0.0022	0.0055	0.0074	0.0054	0.0010	0.0050	0.0050	0.0047	0.0053	0.0092	0.0047	0.0045	0.0079	0.0074	0.0011	0.0230	0.0092	0.0072	0	0.0022	0.0034	0.0071	0.0062	0.0012	0.08	0.38185	T	0.547	0.22561	T	0.0	0.02946	B	0.0	0.01387	B	0.000072	0.52346	D	0.000000	0.898011	0.37487	D	0.805	0.20218	L	-1.41	0.80560	T	-0.42	0.18459	N	0.598	0.61680	-0.6566	0.62426	T	0.238	0.60547	T	10	0.00827083	0.00188	T	0.033911	0.55311	D	0.323	0.64522	.	.	0.976595498363	0.97634	0.4353467972002826	0.43451	0.10439461914	0.11810	0.490928173065	0.37567	T	0.119051	0.44030	T	-0.161409	0.26543	T	0.00575872	0.70709	D	0.0103646805390991	0.00142	T	0.849815	0.54891	T	0.21582852	0.44026	0.19427694	0.43042	0.2614135	0.49200	0.23961963	0.49315	-5.88	0.45605	T	.	.	0.055	0.00524	B	.;.;.	.;.;.	2.315230	0.29642	18.19	0.93778370641130049	0.23734	0.78177	0.38532	D	AEFDGBCI	0.178216	0.30547	N	-0.179153468122502	0.34004	1.935703	0.0170262268929298	0.40506	2.418432	0.999995284942806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.67	4.5	0.54382	4.816000	0.62333	7.906000	0.73790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8644:0.1356:0.0:0.0	12.926	0.57656	868	0.31772	.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.015152	0.02632	1845.33	39	chr8	60742450	.	A	G	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=920;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.461;SOR=0.771	GT:AD:DP:GQ:PL	0/1:100,72:172:99:1859,0,2792	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	0/1:29,14:43:59:.:.:59,0,621:.	8	0	10	1
chr8	73292780	73292780	A	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.T32C:p.V11A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0149817659998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	7.483e-05	0	1.415e-06	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	0	6.654e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.072	0.34982	T	0.079	0.42086	T	0.178	0.28960	B	0.019	0.18783	B	0.003767	0.34511	U	0.183686	0.999528	0.81001	D	2.605	0.76211	M	.	.	.	-1.61	0.38734	N	0.249	0.28146	-0.8721	0.50371	T	0.158	0.49161	T	9	0.13935885	0.26498	T	0.014982	0.35442	T	0.320	0.64215	0.236	0.16608	0.447408163157	0.44359	0.2523569332049469	0.25149	0.464243154752	0.45902	0.520545899868	0.41703	T	0.201271	0.55910	T	-0.106872	0.35287	T	-0.39129	0.34400	T	0.728952407836914	0.42156	D	0.550145	0.18957	T	0.07897117	0.18014	0.06704952	0.13819	0.07897117	0.18013	0.06704952	0.13818	-3.692	0.19200	T	.	.	0.210	0.43734	B	.	.	4.159245	0.62453	24.5	0.99450462782665161	0.65274	0.97034	0.72308	D	AEFDBHCI	0.510504	0.53952	D	-0.0136658867877536	0.41236	2.462968	0.0466492237653134	0.41909	2.525871	0.999995035951409	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.85	2.7	0.31007	5.745000	0.68308	9.307000	0.79926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8811:0.0:0.1189:0.0	5.797	0.17657	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	184.15	82	chr8	73292780	.	A	G	184.15	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,15:80:99:0|1:73292780_A_G:196,0,2241:73292780	15	0	1	3
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	185.19	74	chr8	73292781	.	C	G	185.19	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,15:80:99:0|1:73292780_A_G:196,0,2241:73292780	12	0	1	6
chr8	73292782	73292782	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G30C:p.E10D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0139098399522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	6.841e-07	0	1.379e-06	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.13	0.34716	T	0.0	0.02946	B	0.0	0.01387	B	0.000021	0.55875	U	0.066749	1	0.81001	D	0.69	0.16971	N	.	.	.	-0.88	0.23808	N	0.203	0.22486	-1.0822	0.06927	T	0.070	0.28511	T	9	0.11699939	0.22085	T	0.01391	0.33663	T	0.047	0.12962	0.24	0.17218	0.356792473465	0.35289	0.20706201782616343	0.20622	0.349020583606	0.36765	0.510852754116	0.40342	T	0.156428	0.49860	T	-0.181319	0.23539	T	-0.498229	0.22531	T	0.827730000019073	0.48355	D	0.720928	0.33404	T	0.22204503	0.44795	0.091323994	0.21465	0.22204503	0.44795	0.091323994	0.21464	-5.127	0.38190	T	.	.	0.173	0.38006	B	.	.	3.892995	0.56660	23.8	0.99406606163392708	0.63075	0.96037	0.67248	D	AEFDBHCI	0.410813	0.48154	N	-0.371377826496532	0.26494	1.446367	-0.213489238476202	0.31051	1.753725	0.999998464560225	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	2.8	0.31881	3.407000	0.52394	4.839000	0.45267	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.8777:0.0:0.1223	7.139	0.24720	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	1113.09	74	chr8	73292782	.	C	G	1113.09	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,15:80:99:0|1:73292780_A_G:196,0,2241:73292780	16	0	1	2
chr8	85332503	85332503	G	A	exonic	CA1	.	nonsynonymous SNV	CA1:NM_001291968:exon4:c.C161T:p.A54V,CA1:NM_001164830:exon5:c.C500T:p.A167V,CA1:NM_001291967:exon5:c.C302T:p.A101V,CA1:NM_001128831:exon6:c.C500T:p.A167V,CA1:NM_001128829:exon7:c.C500T:p.A167V,CA1:NM_001128830:exon7:c.C500T:p.A167V,CA1:NM_001738:exon7:c.C500T:p.A167V	.	424	1000	93	5	0	103	0.0489777	.	.	.	711647	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0069	0.00738818	0.0091	0.0008	0.0062	0	0.0053	0.0120	0.0188	0.0101	0.0090684	1402	154602	rs61734485	0.0083	0.0083	0.0078	0.0088	0.0480	0.0082	0.0081	0.0433	0.0415	0.0022	0.0072	0.0352	2.527e-05	0.0063	0.0480	0.0077	0.0106	0.0110	0.0071	0.0070	0.0072	0.0069	0.0091	0.0067	0.0066	0.0083	0.0081	0.0015	0.0220	0.0084	0.0329	0	0.0061	0.0272	0.0089	0.0142	0.0091	0.041	0.44694	D	0.499	0.17910	T	0.45	0.36066	B	0.144	0.33818	B	0.263341	0.15271	N	0.669489	0.999997	0.25329	N	2.745	0.80253	M	-0.28	0.67543	T	-1.62	0.44657	N	0.176	0.18920	-0.8815	0.49642	T	0.091	0.34874	T	10	0.007727623	0.00175	T	.	.	.	0.145	0.38592	.	.	0.73447084507	0.73210	0.3681289320262565	0.36726	0.0410110934837	0.04401	0.281334668398	0.07679	T	0.068996	0.33598	T	-0.399058	0.02348	T	-0.333671	0.41060	T	0.00874550681318089	0.00108	T	0.833317	0.56350	T	0.26060283	0.49116	0.24295774	0.49728	0.34881502	0.56974	0.24295774	0.49727	-6.553	0.50694	T	0.2323406808646329	0.31446	0.124	0.26010	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.317641	0.17215	13.03	0.96525085045259451	0.30129	0.48464	0.28213	N	AEFI	0.261359	0.37932	N	-0.341041418075239	0.27603	1.515762	-0.427219303761543	0.24202	1.324005	4.52593591734053E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.39	0.21325	1.381000	0.33969	1.567000	0.27393	0.618000	0.50648	0.049000	0.21372	0.004000	0.18990	0.546000	0.30079	0.0946:0.1684:0.3902:0.3467	2.502	0.04354	806	0.43582	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	C8orf59|C8orf59|C8orf59	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial	rs61734485	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.044814	0.025253	0.054348	0.061404	0.000000	0.043103	0.033537	0.034091	0.02632	972.33	34	chr8	85332503	.	G	A	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.853;DP=690;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.046;SOR=0.336	GT:AD:DP:GQ:PL	0/1:29,40:69:99:986,0,732	18	0	1	0
chr8	98123347	98123347	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon2:c.G10A:p.A4T,POP1:NM_001145861:exon2:c.G10A:p.A4T,POP1:NM_015029:exon2:c.G10A:p.A4T	Anauxetic dysplasia 2, Autosomal recessive	422	1090	9	1	0	11	0.00502054	.	.	.	736779	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.149	.	0.0016	0.0061901	0.0059	0.0011	0.0007	0	0	0.0020	0.0078	0.0337	0.0051228	792	154602	rs145484648	0.0036	0.0036	0.0026	0.0045	0.0343	0.0035	0.0034	0.0332	0.0328	0.0003	4.474e-05	0.0094	2.521e-05	0.0002	0.0054	0.0015	0.0044	0.0343	0.0019	0.0019	0.0016	0.0023	0.0327	0.0017	0.0017	0.0285	0.0269	0.0005	0	6.539e-05	0.0095	0	9.436e-05	0	0.0012	0.0005	0.0327	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.000000	0.573212	0.31161	N	2.695	0.78878	M	0.17	0.60485	T	-1.55	0.37566	N	0.489	0.52297	-0.3875	0.72420	T	0.283	0.65537	T	10	0.006253153	0.00141	T	.	.	.	0.149	0.39377	.	.	0.753700496871	0.75147	0.545649588371386	0.54490	0.715607625372	0.61963	0.76432621479	0.76574	T	0.030538	0.21626	T	-0.272539	0.11475	T	-0.138498	0.60248	T	0.0533092230267153	0.06073	T	0.817118	0.47377	T	0.4112562	0.61504	0.42909402	0.66602	0.35116738	0.57158	0.42909402	0.66602	-4.38	0.29285	T	.	.	0.663	0.76668	P	.;.;.	.;.;.	4.920543	0.81045	27.5	0.99900096677883032	0.97199	0.95124	0.63526	D	AEFBI	0.412080	0.48230	N	0.577566730686476	0.71777	5.702617	0.58000205385397	0.73508	5.981853	0.906125806415814	0.26223	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	4.583000	0.60675	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.626	0.76609	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	0	0	1	0	0.006546	0.000000	0.002717	0.008772	0.050000	0.000000	0.009146	0.007576	0.02632	266.33	33	chr8	98123347	.	G	A	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.66;ReadPosRankSum=1.03;SOR=0.848	GT:AD:DP:GQ:PL	0/1:29,11:40:99:280,0,638	18	0	1	0
chr8	99717308	99717308	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon37:c.G6667A:p.G2223R,VPS13B:NM_152564:exon37:c.G6592A:p.G2198R	Cohen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1366522	Cohen_syndrome|VPS13B-related_disorder	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.320	0.151022493867	.	.	2.474e-05	0	0.0002	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs751576277	2.121e-05	2.121e-05	2.042e-05	2.2e-05	0.0001	1.52e-05	1.324e-05	4.36e-05	2.768e-05	0	0.0001	3.827e-05	2.52e-05	0	0	1.889e-05	3.312e-05	1.159e-05	1.315e-05	1.314e-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	0.005	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999989	0.81001	D	2.215	0.62545	M	-0.45	0.69896	T	-2.56	0.55339	D	0.802	0.84401	-0.1750	0.78305	T	0.416	0.76258	T	10	0.7867811	0.78315	D	0.151022	0.83263	D	0.320	0.64215	0.2	0.11384	0.893380714402	0.89232	0.6623334775527869	0.66170	0.604559867307	0.55388	0.755929708481	0.75323	T	0.115953	0.43492	T	-0.0948012	0.37284	T	-0.118906	0.61892	T	0.581698001209236	0.35684	D	0.938806	0.76978	D	0.47105342	0.65355	0.40271083	0.64747	0.47105342	0.65356	0.40271083	0.64747	-4.1	0.25290	T	0.6420321217396915	0.71290	0.365	0.57529	A	.;.	.;.	4.443023	0.68994	25.3	0.99877470690862591	0.95410	0.98565	0.84156	D	AEFI	0.847868	0.76471	D	0.663207164547628	0.77225	6.634165	0.627601611560033	0.76952	6.58681	0.999996334035653	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.27	4.39	0.52211	8.919000	0.92353	9.874000	0.82149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0732:0.0:0.9268:0.0	14.024	0.64094	448	0.79501	.;.	.	.	.	.	.	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	666.33	41	chr8	99717308	.	G	A	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=682;ExcessHet=0;FS=4.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.645;SOR=0.283	GT:AD:DP:GQ:PL	0/1:23,29:52:99:680,0,556	18	0	1	0
chr8	100213407	100213407	A	G	exonic	SPAG1	.	nonsynonymous SNV	SPAG1:NM_001374321:exon11:c.A1414G:p.I472V,SPAG1:NM_003114:exon11:c.A1414G:p.I472V,SPAG1:NM_172218:exon11:c.A1414G:p.I472V	Ciliary dyskinesia, primary, 28, Autosomal recessive	385	1123	14	0	0	14	0.00619469	.	.	.	240216	Primary_ciliary_dyskinesia_28|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	.	0.00439297	0.0272	0	0.0323	0	0	0.0083	0.0526	0.0424	0.0017982	278	154602	rs373038988	0.0057	0.0055	0.0051	0.0062	0.0245	0.0056	0.0055	0.0235	0.0231	0.0007	0.0018	0.0080	7.082e-05	0.0003	0.0030	0.0050	0.0059	0.0245	0.0036	0.0036	0.0037	0.0036	0.0270	0.0034	0.0033	0.0232	0.0218	0.0011	0	0.0007	0.0087	0	0.0007	0	0.0048	0.0014	0.0270	0.02	0.49613	D	0.021	0.58089	D	0.07	0.23866	B	0.21	0.37304	B	0.005171	0.33034	N	0.308077	0.999999	0.58761	D	0.995	0.25082	L	0.06	0.61798	T	-0.84	0.22944	N	0.252	0.28498	-0.5648	0.66220	T	0.269	0.64045	T	10	0.005939007	0.00133	T	.	.	.	0.137	0.36984	.	.	0.684459776762	0.68176	0.3961520231866763	0.39530	0.210292740051	0.23518	0.655034422874	0.60701	T	0.043919	0.26654	T	-0.422152	0.01658	T	-0.359571	0.38104	T	0.0116431349813205	0.00178	T	0.677432	0.28627	T	0.16714355	0.37092	0.12228089	0.29496	0.1596584	0.35853	0.12463893	0.30039	-7.678	0.58855	D	0.6129580361333294	0.68070	0.130	0.27762	B	.;.	.;.	2.634141	0.34263	19.58	0.97295654022960187	0.33252	0.79545	0.39437	D	ALL	0.460888	0.51088	N	-0.171127305714419	0.34340	1.958905	-0.142889690678525	0.33682	1.929292	1.0	0.98316	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.581474	0.35302	0	.	.	3.72	3.72	0.41857	2.863000	0.48095	3.312000	0.37472	0.580000	0.29708	0.988000	0.36536	1.000000	0.68203	0.604000	0.31488	1.0:0.0:0.0:0.0	12.520	0.55397	248	0.90287	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	1	0	0.006014	0.000000	0.005208	0.000000	0.000000	0.000000	0.013889	0.007812	0.02632	228.33	37	chr8	100213407	.	A	G	228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=-1.746;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,12:36:99:242,0,626	18	0	1	0
chr8	117520889	117520889	C	T	exonic	MED30	.	nonsynonymous SNV	MED30:NM_001282986:exon1:c.C13T:p.P5S,MED30:NM_001363182:exon1:c.C13T:p.P5S,MED30:NM_080651:exon1:c.C13T:p.P5S	.	.	.	.	.	.	.	.	.	.	.	3453676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.272	0.0273327163711	.	.	0.0005	0	0.0055	0	0.0006	0.0002	0	0	0.0001682	26	154602	rs756450480	6.075e-05	6.225e-05	5.348e-05	6.812e-05	0.0009	5.007e-05	4.669e-05	0.0007	0.0006	0	0.0009	0	0	0	0	4.068e-05	8.378e-05	0	3.941e-05	3.939e-05	5.138e-05	2.689e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0.0002	0	5.879e-05	0	0	0.0	0.91255	D	0.277	0.21880	T	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.61	0.41143	L	.	.	.	-0.22	0.10480	N	0.541	0.62696	-0.3542	0.73432	T	0.369	0.72880	T	9	0.016767174	0.00355	T	0.027333	0.50151	D	0.272	0.58758	.	.	0.215239754934	0.21150	0.7288693597870866	0.72830	1.45782429626	0.86289	0.777789056301	0.78594	T	0.055689	0.30078	T	-0.0434054	0.45441	T	0.0881699	0.76123	D	0.190580949187279	0.19879	T	0.914509	0.69499	D	0.3310769	0.55559	0.6226822	0.78014	0.3310769	0.55559	0.6226822	0.78015	-3.426	0.16586	T	.	.	0.172	0.48093	B	.;.	.;.	4.810565	0.78248	26.9	0.99911760662319193	0.98095	0.98758	0.86475	D	ALL	0.771677	0.70624	D	0.644530623727374	0.76014	6.409194	0.628797500404854	0.77041	6.603508	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.52	5.52	0.82153	7.050000	0.76333	7.504000	0.59526	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.365000	0.25999	0.0:1.0:0.0:0.0	18.607	0.91223	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	807.33	34	chr8	117520889	.	C	T	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=674;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.118;SOR=0.399	GT:AD:DP:GQ:PL	0/1:26,29:55:99:821,0,727	18	0	1	0
chr8	120209807	120209807	G	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon12:c.G1373A:p.S458N,COL14A1:NM_021110:exon12:c.G1373A:p.S458N	.	8	1499	14	1	0	16	0.00530856	.	.	.	711262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.042141190961	0.0022	0.000998403	0.0023	0.0005	0.0025	0.0002	0.0002	0.0032	0.0022	0.0015	0.0022315	345	154602	rs61753752	0.0028	0.0028	0.0027	0.0029	0.0054	0.0027	0.0027	0.0039	0.0034	0.0007	0.0024	0.0074	0	0.0002	0.0054	0.0030	0.0025	0.0025	0.0022	0.0022	0.0024	0.0019	0.0031	0.0020	0.0019	0.0028	0.0027	0.0005	0	0.0029	0.0075	0	0.0002	0.0034	0.0031	0.0066	0.0027	0.038	0.72154	D	0.049	0.65728	D	0.996	0.68779	D	0.857	0.61806	P	0.000013	0.62929	D	0.148564	0.999599	0.47742	D	2.995	0.85803	M	0.01	0.62459	T	-2.03	0.46673	N	0.618	0.63374	-0.0409	0.81398	T	0.448	0.78318	T	10	0.011208266	0.00246	T	0.042141	0.60309	D	0.292	0.61157	.	.	0.557167593849	0.55376	0.7725530090495252	0.77205	0.53478116883	0.50867	0.51078248024	0.40332	T	0.206657	0.56606	T	-0.365484	0.03829	T	-0.299874	0.44737	T	0.0437937135791625	0.04383	T	0.776522	0.75457	T	0.4749248	0.65591	0.46054107	0.68668	0.4749248	0.65592	0.46054107	0.68668	-9.685	0.72066	D	.	.	0.22	0.45750	B	.;.;.;.	.;.;.;.	4.189786	0.63134	24.5	0.99553431506624179	0.71273	0.95121	0.63515	D	AEFDGI	0.828387	0.74749	D	0.662746852234486	0.77196	6.628383	0.588800769886301	0.74135	6.085838	0.999083501847007	0.38397	0.675385	0.55134	0	0.573888	0.26702	0	0.693117	0.63056	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	5.425000	0.66208	9.821000	0.81804	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.0:1.0:0.0	19.180	0.93606	837	0.37933	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1713.33	33	chr8	120209807	.	G	A	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.671;SOR=0.67	GT:AD:DP:GQ:PL	0/1:111,85:196:99:1727,0,2633	18	0	1	0
chr8	124119696	124119696	T	C	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon41:c.T5480C:p.I1827T	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0273298299873	8e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0015	0.0002458	38	154602	rs375758950	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0	6.71e-05	0	0	0	0	9.539e-05	0.0002	0.0017	8.536e-05	8.53e-05	7.712e-05	9.397e-05	0.0015	4.954e-05	3.96e-05	0.0007	0.0005	0	0	6.533e-05	0	0	0	0	7.351e-05	0	0.0015	0.084	0.32929	T	0.319	0.19188	T	0.988	0.62325	D	0.803	0.58300	P	0.193253	0.16790	U	0.579340	0.999509	0.47320	D	1.355	0.33814	L	-1.56	0.81815	D	-1.12	0.28906	N	0.334	0.37509	-0.0064	0.82123	T	0.599	0.85735	D	10	0.04818198	0.04234	T	0.02733	0.50151	D	0.371	0.69016	.	.	0.415564226483	0.41173	0.5527981874454271	0.55205	0.404161105383	0.41326	0.704163014889	0.67746	T	0.321007	0.69215	T	-0.295917	0.09051	T	-0.222468	0.52499	T	0.117517669748552	0.14185	T	0.883312	0.60567	D	0.12231985	0.28747	0.12155255	0.29328	0.12231985	0.28747	0.12155255	0.29327	-7.03	0.54252	T	.	.	0.076	0.05756	B	.	.	3.920715	0.57237	23.8	0.99759380031903189	0.84931	0.91133	0.52925	D	AEFGBI	0.294682	0.40498	N	0.461158774424602	0.64838	4.74769	0.492790504080353	0.67511	5.093843	0.0694521087216119	0.15491	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	1.703000	0.37465	5.023000	0.46762	0.665000	0.62972	0.990000	0.36992	1.000000	0.68203	0.939000	0.47918	0.0:0.0:0.0:1.0	16.822	0.85699	692	0.58729	Ferlin, C-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	.	.	.	.	.	.	.	.	0.02632	2113.33	33	chr8	124119696	.	T	C	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.23;SOR=0.668	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2127,0,2285	18	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.011364	0.02632	2809.33	34	chr8	132941380	.	C	T	2809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=863;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=2.81;SOR=0.594	GT:AD:DP:GQ:PL	0/1:100,121:221:99:2823,0,2271	18	0	1	0
chr8	138152280	138152280	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A2195G:p.H732R,FAM135B:NM_015912:exon13:c.A2195G:p.H732R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00340978740355	.	0.000199681	4.993e-05	0	8.673e-05	0	0	7.532e-05	0	0	4.53e-05	7	154602	rs202075652	3.215e-05	3.215e-05	2.586e-05	3.85e-05	0.0012	2.478e-05	2.22e-05	0.0006	0.0004	0	0	0	0	0	0.0012	3.058e-05	3.311e-05	4.637e-05	3.283e-05	3.937e-05	5.14e-05	1.343e-05	6.533e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.533e-05	0	0	0	0	4.41e-05	0.0005	0	0.073	0.34800	T	0.74	0.04982	T	0.251	0.31212	B	0.025	0.20508	B	0.010160	0.30045	N	0.382967	0.669344	0.30378	N	2.215	0.62545	M	2.4	0.15608	T	-2.26	0.50502	N	0.14	0.13911	-1.0619	0.11288	T	0.044	0.18783	T	10	0.052045256	0.05179	T	0.00341	0.07664	T	0.050	0.13987	.	.	0.0675242888579	0.06100	0.25959047201955776	0.25873	0.0809696088702	0.09113	0.595278024673	0.52238	T	0.184271	0.53687	T	-0.287692	0.09870	T	-0.465123	0.26043	T	0.110937623470441	0.13520	T	0.740126	0.35895	T	0.07893153	0.18002	0.12052239	0.29084	0.07893153	0.18002	0.12052239	0.29083	-2.875	0.08896	T	.	.	0.077	0.06295	B	.	.	1.334388	0.17401	13.14	0.94268780865262813	0.24555	0.83289	0.42418	D	AEFDBI	0.306692	0.41377	N	-0.0549044670947652	0.39382	2.321646	-0.0467527894688909	0.37630	2.205962	1.2806468944554E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	1.91	0.24841	1.363000	0.33763	-0.058000	0.12460	0.665000	0.62972	1.000000	0.71638	0.887000	0.27779	0.558000	0.30364	0.0:0.1431:0.2983:0.5587	5.191	0.14534	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1750.33	142	chr8	138152280	.	T	C	1750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1657;ExcessHet=0;FS=3.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.384;SOR=1.043	GT:AD:DP:GQ:PL	0/1:88,65:153:99:1764,0,2512	18	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S,TRAPPC9:NM_001374684:exon18:c.G2653A:p.G885S,TRAPPC9:NM_001160372:exon19:c.G2797A:p.G933S,TRAPPC9:NM_031466:exon19:c.G2797A:p.G933S,TRAPPC9:NM_001374682:exon20:c.G2818A:p.G940S	Mental retardation, autosomal recessive 13, Autosomal recessive	4	1463	53	2	0	57	0.0191083	.	.	.	136075	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021368	0.000000	0.010638	0.017483	0.000000	0.064103	0.016529	0.053571	0.05263	5850.83	41	chr8	139988739	.	C	T	5850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.8;DP=1228;ExcessHet=0.119;FS=0.374;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.89;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,105:193:99:0|1:139988737_A_G:2945,0,2165:139988737	17	0	2	0
chr8	141496368	141496368	G	A	exonic	MROH5	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310316334	3.421e-06	3.42e-06	6.808e-06	0	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	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	2331.33	42	chr8	141496368	.	G	A	2331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.627;DP=856;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.17;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,62:139:99:0|1:141496361_A_G:2345,0,2986:141496361	18	0	1	0
chr8	142344145	142344145	C	T	exonic	TSNARE1	.	nonsynonymous SNV	TSNARE1:NM_001363740:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366901:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366902:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366903:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366904:exon4:c.G566A:p.R189Q,TSNARE1:NM_145003:exon4:c.G566A:p.R189Q	.	.	.	.	.	.	.	.	.	.	.	722882	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0680099521972	0.0032	0.000599042	0.0017	0.0005	0.0006	0	0	0.0028	0.0011	6.13e-05	0.0016429	254	154602	rs144961640	0.0036	0.0036	0.0037	0.0035	0.0045	0.0035	0.0035	0.0044	0.0043	0.0006	0.0015	0.0003	0	0.0003	0.0007	0.0045	0.0027	0.0001	0.0022	0.0022	0.0023	0.0021	0.0038	0.0020	0.0020	0.0034	0.0033	0.0008	0	0.0027	0.0003	0	9.407e-05	0	0.0038	0.0005	0.0002	0.0	0.91255	D	0.121	0.35840	T	0.997	0.70673	D	0.777	0.57175	P	0.007276	0.31496	U	0.000000	1	0.81001	D	1.61	0.41143	L	2.72	0.11947	T	-0.73	0.20576	N	0.261	0.29544	-1.0864	0.06155	T	0.043	0.18701	T	10	0.00959602	0.00216	T	0.06801	0.70330	D	0.094	0.27141	.	.	0.310458034454	0.30648	0.3069164497292656	0.30604	0.385573126211	0.39849	0.565623879433	0.48060	T	0.01545	0.12960	T	-0.525607	0.00408	T	-0.530511	0.19236	T	0.0536597841013476	0.06132	T	0.858914	0.54988	D	0.14789355	0.33789	0.0774748	0.17261	0.14789355	0.33788	0.0774748	0.17261	-16.303	0.98180	D	.	.	0.644	0.70690	P	.;.;.	.;.;.	3.234089	0.44118	21.9	0.99926995633289861	0.99163	0.05445	0.11321	N	AEFDGBI	0.057967	0.10840	N	-0.0387487489977749	0.40105	2.376201	-0.157682887027994	0.33113	1.89084	0.760550142259518	0.23503	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.92	1.99	0.25423	-0.239000	0.08983	0.654000	0.20444	0.568000	0.28809	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.1894:0.7027:0.0:0.108	5.948	0.18466	951	0.11083	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2060.33	40	chr8	142344145	.	C	T	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=848;ExcessHet=0;FS=5.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.68;SOR=0.391	GT:AD:DP:GQ:PL	0/1:80,75:155:99:2074,0,1917	18	0	1	0
chr8	143873067	143873067	G	A	exonic	EPPK1	.	stopgain	EPPK1:NM_031308:exon2:c.C187T:p.Q63X	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0006	0.0004	0	0	0.0001	0	0	0.0001488	23	154602	rs201041885	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0006	0.0010	0.0003	4.352e-05	0	0	0.0014	0.0002	0.0004	2.486e-05	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0006	0.0006	0.0009	0	0.0001	0	0	0	0	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.053	0.02964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247313	0.78347	D	0.49944	0.94603	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.270199	0.96338	36	0.99722937539984202	0.82195	0.41525	0.26676	N	AEFDBCI	0.174542	0.30168	N	0.311182502854069	0.56723	3.837405	0.0614881343581235	0.42630	2.582	0.999964756715178	0.48965	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.32	4.32	0.50899	1.459000	0.34844	.	.	-0.864000	0.02607	0.971000	0.34370	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.79:0.21	9.537	0.38396	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004087	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1141.33	40	chr8	143873067	.	G	A	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.594;DP=779;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.59;SOR=0.781	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1155,0,659	18	0	1	0
chr8	144506631	144506631	C	A	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon9:c.C1262A:p.P421H,GPT:NM_001382664:exon10:c.C1262A:p.P421H,GPT:NM_001382665:exon10:c.C1262A:p.P421H	.	398	1122	2	0	0	2	0.000890472	.	.	.	2359154	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.499661333993	.	.	0.0002	0	0	0	0	0.0001	0	0.0002	1.94e-05	3	154602	rs781699796	1.991e-05	1.984e-05	1.686e-05	2.303e-05	0.0012	1.38e-05	1.188e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.384e-05	0	7.468e-05	1.973e-05	1.971e-05	0	4.04e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.675	0.94400	H	-2.66	0.90272	D	-8.04	0.96594	D	0.378	0.41952	1.063	0.98420	D	0.905	0.96856	D	10	0.9256747	0.91916	D	0.499661	0.95132	D	0.806	0.93699	0.818	0.93195	0.893959610281	0.89291	0.9221320023610163	0.92190	0.413070297786	0.42027	0.620860159397	0.55851	T	0.803833	0.95026	D	-0.0213641	0.48659	T	-0.00403615	0.70073	D	0.996428787708282	0.89318	D	0.856214	0.54490	D	0.8364281	0.86353	0.792728	0.87815	0.8364281	0.86355	0.792728	0.87815	-11.463	0.82137	D	.	.	0.476	0.63481	A	.;.	.;.	3.916045	0.57135	23.8	0.99582896376129226	0.73099	0.95468	0.64841	D	AEFDBHCI	0.960612	0.98150	D	0.795238232209871	0.85806	8.687659	0.619033044711163	0.76321	6.469847	0.999999999998892	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.54	4.54	0.55220	2.462000	0.44706	7.413000	0.58658	0.596000	0.33519	0.600000	0.27747	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;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	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr8	144506631	.	C	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.799;DP=698;ExcessHet=0;FS=3.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.86;SOR=0.34	GT:AD:DP:GQ:PL	0/1:30,34:64:99:882,0,832	18	0	1	0
chr8	144512966	144512966	G	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.C2636A:p.P879H	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1468	53	1	0	55	0.0183885	.	.	YES	100790	not_specified|Baller-Gerold_syndrome|Rapadilino_syndrome|Rothmund-Thomson_syndrome_type_2|not_provided	MedGen:CN169374|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0064	0.00539137	0.0111	0.0069	0.0209	0	0.0009	0.0170	0.0317	0.0028	0.0056662	876	154602	rs137975310	0.0101	0.0100	0.0102	0.0099	0.0284	0.0099	0.0099	0.0248	0.0234	0.0048	0.0115	0.0130	0	0.0012	0.0284	0.0112	0.0114	0.0031	0.0089	0.0089	0.0093	0.0085	0.0157	0.0085	0.0083	0.0141	0.0134	0.0051	0.0307	0.0157	0.0144	0	0.0009	0.0306	0.0113	0.0137	0.0023	.	.	.	0.129	0.34837	T	0.39	0.34593	B	0.159	0.34693	B	.	.	.	.	.	.	.	1.525	0.38595	L	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.004400462	0.00090	T	.	.	.	.	.	.	.	0.739007817583	0.73667	0.32707399421941546	0.32620	.	.	0.322193324566	0.13753	T	0.027492	0.33267	T	-0.418621	0.01746	T	-0.363709	0.37622	T	.	.	.	0.310069	0.06017	T	0.034189038	0.03789	0.0702438	0.14899	0.03304768	0.03447	0.070746265	0.15067	-4.697	0.33367	T	.	.	0.082	0.09143	B	.;.	.;.	-0.192825	0.03128	0.501	0.58722281192310632	0.06058	0.34935	0.25184	N	AEFGBCI	0.070053	0.13892	N	.	.	.	.	.	.	0.999998398723936	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.96	0.48	0.16014	0.280000	0.18550	0.457000	0.18579	-0.244000	0.07312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1883:0.1438:0.5207:0.1473	2.446	0.04231	900	0.24599	.;.	.	.	.	.	.	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	1372.33	68	chr8	144512966	.	G	T	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1346;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.874;SOR=1.04	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1386,0,1786	18	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,9:21:99:1|0:117366_C_CCG:483,131,327:117366	13	1	5	0
chr9	117846	117846	A	T	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.T274A:p.S92T	.	225	1295	2	0	0	2	0.000771605	.	.	.	2828706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	0.0712247100022	0.0017	0.00119808	0.0034	0.0008	0.0003	0	0.0027	0.0053	0.0022	0.0014	0.0004269	66	154602	rs139668562	0.0040	0.0040	0.0040	0.0039	0.0048	0.0039	0.0039	0.0047	0.0047	0.0007	0.0006	0.0002	0	0.0026	0.0009	0.0048	0.0026	0.0010	0.0028	0.0028	0.0028	0.0027	0.0050	0.0025	0.0025	0.0045	0.0044	0.0007	0.0121	0.0007	0	0	0.0016	0.0034	0.0050	0.0005	0.0023	0.106	0.29688	T	0.328	0.18675	T	0.007	0.14184	B	0.013	0.16460	B	0.292807	0.14737	U	0.485871	1	0.08975	N	1.445	0.36358	L	-3.69	0.95317	D	-1.15	0.29525	N	0.052	0.02366	-0.3674	0.73040	T	0.614	0.86334	D	10	0.00567171	0.00126	T	0.071225	0.71212	D	0.156	0.40720	.	.	0.141422826196	0.13715	0.18755482420957773	0.18673	.	.	0.768952190876	0.77267	T	0.003482	0.02889	T	-0.450912	0.01116	T	-0.418838	0.31209	T	0.00067348318407312	0.00006	T	0.20008	0.02257	T	0.058113232	0.11651	0.07075862	0.15071	0.058113232	0.11651	0.07075862	0.15071	-4.09	0.25142	T	.	.	0.087	0.11172	B	.	.	-0.533198	0.01763	0.134	0.86152521825123407	0.16347	0.01086	0.04003	N	AEFBI	0.049693	0.08611	N	-1.22319489507703	0.04665	0.2110378	-1.30120221742447	0.04415	0.2081971	0.0104158161165711	0.12021	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	2.24	-0.621	0.10984	-0.826000	0.04536	-3.196000	0.02980	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6462:0.0:0.1427:0.2111	3.029	0.05732	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1113.33	47	chr9	117846	.	A	T	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1277;ExcessHet=0;FS=3.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.92;MQRankSum=-2.495;QD=9.2;ReadPosRankSum=-0.254;SOR=0.969	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1127,0,1815	18	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.05263	4296.83	33	chr9	894044	.	A	G	4296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.457;DP=926;ExcessHet=0.119;FS=1.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.25;SOR=0.797	GT:AD:DP:GQ:PL	0/1:71,100:171:99:2488,0,1780	17	0	2	0
chr9	2039777	2039797	CAGCAGCAGCAGCAGCAGCAG	-	exonic	SMARCA2	.	nonframeshift deletion	SMARCA2:NM_001289396:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_001289397:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_003070:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_139045:exon4:c.667_687del:p.Q232_Q238del	Nicolaides-Baraitser syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579690	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333821975	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	0.0002	0.0003	0	0	0.0002	0.0016	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	0	0	0.0002	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7911.62	33	chr9	2039776	.	ACAGCAGCAGCAGCAGCAGCAG	A	7911.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=982;ExcessHet=4.0268;FS=2.482;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.986;SOR=0.515	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1821,0,951	18	0	1	0
chr9	2039793	2039793	A	0	exonic	SMARCA2	.	.	.	Nicolaides-Baraitser syndrome, Autosomal dominant	26	1377	105	9	5	128	0.0427529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	882.43	44	chr9	2039793	.	A	*	882.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.133;DP=919;ExcessHet=0.119;FS=2.951;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6;ReadPosRankSum=-0.299;SOR=0.485	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1821,0,951	18	0	1	0
chr9	5922071	5922071	T	C	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.A3925G:p.S1309G	.	429	1080	13	0	0	13	0.00598251	.	.	.	2361867	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.00237627781726	0.0010	0.000798722	0.0013	0.0001	0.0008	0	0.0003	0.0017	0.0022	0.0019	0.0012548	194	154602	rs151185112	0.0012	0.0012	0.0011	0.0013	0.0095	0.0011	0.0011	0.0075	0.0068	0.0005	0.0008	0.0024	2.519e-05	0.0004	0.0095	0.0012	0.0014	0.0022	0.0012	0.0012	0.0012	0.0011	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0011	0.0020	0	0.0005	0.0068	0.0017	0.0038	0.0029	0.228	0.18434	T	0.09	0.40586	T	0.001	0.07471	B	0.004	0.10090	B	0.034346	0.24781	N	0.364204	0.999814	0.21449	N	0	0.06538	N	.	.	.	-0.23	0.11008	N	0.122	0.11340	-1.0451	0.15796	T	0.064	0.26349	T	9	0.00823465	0.00187	T	0.002376	0.04618	T	0.016	0.02506	.	.	0.110078149338	0.10416	0.17518584630704787	0.17437	.	.	0.284916877747	0.08187	T	0.018169	0.14695	T	-0.501657	0.00560	T	-0.500156	0.22331	T	0.00261522291644604	0.00027	T	0.671933	0.28057	T	0.21175131	0.43508	0.065815784	0.13393	0.21175131	0.43508	0.065815784	0.13393	-4.558	0.31716	T	.	.	0.064	0.02733	B	.;.	.;.	1.667714	0.21262	15.12	0.9744485408584963	0.33997	0.88508	0.48468	D	AEFDGBI	.	.	.	-0.499270285281523	0.22105	1.177967	-0.383460786059493	0.25489	1.402083	0.996339373411868	0.34675	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.64	1.03	0.19161	1.785000	0.38315	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.343:0.0:0.657	8.651	0.33197	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.009511	0.017544	0.000000	0.017241	0.006098	0.007576	0.02632	4066.33	44	chr9	5922071	.	T	C	4066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.924;DP=1165;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.013;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,106:195:99:0|1:5922071_T_C:4080,0,3366:5922071	18	0	1	0
chr9	5922080	5922080	C	G	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.G3916C:p.V1306L	.	426	1083	13	0	0	13	0.00596604	.	.	.	2366325	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00183077925846	0.0010	0.000798722	0.0013	0.0001	0.0008	0	0.0003	0.0017	0.0022	0.0019	0.0012548	194	154602	rs140343430	0.0012	0.0012	0.0011	0.0013	0.0095	0.0011	0.0011	0.0075	0.0068	0.0004	0.0008	0.0024	2.52e-05	0.0004	0.0095	0.0012	0.0014	0.0022	0.0012	0.0012	0.0012	0.0011	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0011	0.0020	0	0.0005	0.0068	0.0017	0.0038	0.0029	1.0	0.00964	T	0.534	0.10750	T	0.0	0.02946	B	0.0	0.01387	B	0.041229	0.23971	N	0.207411	0.999789	0.20372	N	-0.805	0.01590	N	.	.	.	-0.16	0.09965	N	0.045	0.01740	-0.9667	0.37874	T	0.020	0.08407	T	9	0.006395161	0.00145	T	0.001831	0.03167	T	0.036	0.09122	0.139	0.04277	0.0551355673512	0.04727	0.05598272539403267	0.05539	.	.	0.273026227951	0.06539	T	0.011168	0.09998	T	-0.625506	0.00102	T	-0.678057	0.07103	T	0.00280428251008959	0.00029	T	0.712529	0.32403	T	0.027975917	0.02066	0.03423232	0.02454	0.027975917	0.02066	0.03423232	0.02453	-3.728	0.19732	T	.	.	0.059	0.04975	B	.;.	.;.	0.289452	0.06659	3.158	0.71003590453837062	0.09483	0.78022	0.38434	D	AEFDGBI	.	.	.	-1.15406172627164	0.05713	0.2611852	-0.9916215026964	0.09973	0.499384	0.998863873923978	0.37845	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.64	2.26	0.27418	1.716000	0.37601	.	.	-0.785000	0.03297	0.965000	0.33920	1.000000	0.68203	0.326000	0.25110	0.5693:0.1551:0.0:0.2756	5.913	0.18281	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.006098	0.007576	0.02632	4091.33	44	chr9	5922080	.	C	G	4091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=1168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=-0.713;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,106:196:99:0|1:5922071_T_C:4105,0,3352:5922071	18	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	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	0.009063	0.025253	0.006793	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	6310.83	33	chr9	12821696	.	T	C	6310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.877;DP=1095;ExcessHet=0.119;FS=1.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.85;SOR=0.578	GT:AD:DP:GQ:PL	0/1:122,117:239:99:3096,0,3240	17	0	2	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D,MPDZ:NM_001261407:exon22:c.C3229G:p.H1077D,MPDZ:NM_001330637:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375413:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375416:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375417:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375419:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375420:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375422:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375424:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375425:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375426:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375427:exon22:c.C3229G:p.H1077D,MPDZ:NM_001378778:exon22:c.C3229G:p.H1077D,MPDZ:NM_003829:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375418:exon23:c.C3229G:p.H1077D,MPDZ:NM_001375421:exon23:c.C3229G:p.H1077D,MPDZ:NM_001375423:exon23:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	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	129.34	34	chr9	13168391	.	G	C	129.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.191;DP=954;ExcessHet=0;FS=350.781;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=0.51;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,25:98:99:.:.:143,0,1606:.	18	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1571,0,1516	14	0	5	0
chr9	20981681	20981681	A	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon37:c.A4528T:p.I1510F,FOCAD:NM_001375570:exon37:c.A4528T:p.I1510F,FOCAD:NM_001375567:exon38:c.A4633T:p.I1545F,FOCAD:NM_017794:exon40:c.A4633T:p.I1545F	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0193072868096	.	.	3.337e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs749602777	5.509e-06	6.156e-06	5.474e-06	5.544e-06	0.0002	2.37e-06	1.71e-06	9.342e-05	6.802e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.82	0.25018	T	-1.66	0.39692	N	0.559	0.58373	-0.8856	0.49307	T	0.157	0.48976	T	10	0.28785354	0.46367	T	0.019307	0.41638	T	0.200	0.48430	0.374	0.38667	0.473538153929	0.46983	0.554029620889205	0.55329	0.021579088437	0.02143	0.591266751289	0.51673	T	0.020402	0.16069	T	-0.196308	0.21338	T	-0.220823	0.52658	T	0.374100928650635	0.27955	T	0.861114	0.55479	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.58744	B	.;.;.	.;.;.	4.456598	0.69330	25.4	0.98800047192333518	0.46445	0.98659	0.85246	D	AEFDGBIJ	0.624424	0.60800	D	0.696430055544595	0.79398	7.069268	0.693224400065937	0.81863	7.627481	0.9999999999994	0.74766	0.50712	0.20391	0	0.658105	0.61773	0	0.659464	0.59346	0	0.677038	0.66255	0	.	.	5.95	5.95	0.96415	3.898000	0.55993	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.432	0.83693	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1222.33	35	chr9	20981681	.	A	T	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=709;ExcessHet=0;FS=5.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=1.64;SOR=0.264	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1236,0,1009	18	0	1	0
chr9	32987570	32987570	T	C	exonic	APTX	.	nonsynonymous SNV	APTX:NM_001195250:exon3:c.A295G:p.K99E,APTX:NM_001195254:exon3:c.A295G:p.K99E,APTX:NM_001369000:exon3:c.A295G:p.K99E,APTX:NM_001369001:exon3:c.A295G:p.K99E,APTX:NM_001369004:exon3:c.A193G:p.K65E,APTX:NM_001195248:exon4:c.A457G:p.K153E,APTX:NM_001195249:exon4:c.A457G:p.K153E,APTX:NM_001368995:exon4:c.A457G:p.K153E,APTX:NM_001368996:exon4:c.A457G:p.K153E,APTX:NM_001368997:exon4:c.A457G:p.K153E,APTX:NM_001368998:exon4:c.A457G:p.K153E,APTX:NM_001368999:exon4:c.A457G:p.K153E,APTX:NM_001369002:exon4:c.A193G:p.K65E,APTX:NM_001369003:exon4:c.A193G:p.K65E,APTX:NM_001369006:exon4:c.A193G:p.K65E,APTX:NM_001370669:exon4:c.A193G:p.K65E,APTX:NM_001370670:exon4:c.A193G:p.K65E,APTX:NM_001370673:exon4:c.A193G:p.K65E,APTX:NM_175069:exon4:c.A457G:p.K153E,APTX:NM_001195251:exon5:c.A457G:p.K153E,APTX:NM_001369005:exon5:c.A193G:p.K65E,APTX:NM_175073:exon5:c.A457G:p.K153E	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1156200	not_specified|Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia|not_provided	MedGen:CN169374|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	.	0.0032	0.00419329	0.0010	0.0114	0.0005	0	0	1.498e-05	0	0	0.0010479	162	154602	rs34634937	0.0004	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0006	0	0	0	0.0002	8.093e-06	0.0008	1.159e-05	0.0033	0.0033	0.0035	0.0031	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0012	0	0	0	0	0	0.0038	0	0.254	0.50676	T	0.491	0.13713	T	0.013	0.36905	B	0.018	0.36839	B	0.656121	0.10469	N	0.870824	1	0.81001	D	1.64	0.41913	L	-1.85	0.91478	D	-0.73	0.20576	N	0.108	0.17140	-0.4328	0.70974	T	0.499	0.81077	T	10	0.0044230223	0.00090	T	.	.	.	0.155	0.40530	.	.	0.954182865946	0.95369	0.228097369366108	0.22724	0.0762252314708	0.08556	0.420480102301	0.27902	T	0.083068	0.36970	T	-0.316515	0.07187	T	-0.217041	0.53021	T	0.0128660427292006	0.00220	T	0.784422	0.59164	T	0.1257716	0.29475	0.0797531	0.17982	0.11170528	0.26396	0.06378073	0.12684	-4.879	0.42241	T	.	.	0.066	0.03698	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.655655	0.21119	15.06	0.98901663454674771	0.48199	0.39073	0.26131	N	AEFBI	0.151691	0.27623	N	-0.469122846836289	0.23096	1.237926	-0.404801313444161	0.24855	1.363481	0.579337237204205	0.21557	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.37	4.23	0.49319	1.665000	0.37066	3.794000	0.39841	0.665000	0.62972	0.068000	0.22015	1.000000	0.68203	0.261000	0.23543	0.0:0.0906:0.0:0.9094	7.940	0.29117	533	0.73433	.;.;.;.;.;.;.;.;HIT-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	0	0	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	5554.33	42	chr9	32987570	.	T	C	5554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.113;DP=1102;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.256;SOR=0.568	GT:AD:DP:GQ:PL	0/1:158,201:359:99:5568,0,4391	18	0	1	0
chr9	33933599	33933599	G	T	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon16:c.C1840A:p.L614I,UBAP2:NM_001370064:exon17:c.C1726A:p.L576I,UBAP2:NM_001370068:exon17:c.C1885A:p.L629I,UBAP2:NM_001370059:exon18:c.C1999A:p.L667I,UBAP2:NM_001370062:exon18:c.C1999A:p.L667I,UBAP2:NM_018449:exon18:c.C1999A:p.L667I,UBAP2:NM_001370066:exon19:c.C1885A:p.L629I	.	419	1100	3	0	0	3	0.00136178	.	.	.	723552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0114	0.0091853	0.0032	0.0357	0.0014	0	0	2.998e-05	0	6.057e-05	0.0029624	458	154602	rs77256659	0.0010	0.0010	0.0012	0.0009	0.0375	0.0010	0.0010	0.0358	0.0351	0.0375	0.0015	0	0	0	0.0010	1.259e-05	0.0023	4.637e-05	0.0095	0.0095	0.0097	0.0093	0.0327	0.0091	0.0089	0.0313	0.0307	0.0327	0	0.0041	0	0	0	0.0034	7.35e-05	0.0066	0.0002	0.049	0.39820	D	0.479	0.11933	T	0.999	0.77913	D	0.996	0.84481	D	0.007035	0.31644	N	0.299562	0.984798	0.25567	N	2.25	0.63811	M	2.6	0.13204	T	-0.39	0.13611	N	0.432	0.47115	-1.1241	0.02087	T	0.028	0.11926	T	10	0.0070630014	0.00161	T	.	.	.	0.099	0.28413	.	.	0.110392049598	0.10638	0.185603647649575	0.18478	0.413640024511	0.42060	0.390889883041	0.23795	T	0.044099	0.26711	T	-0.47058	0.00843	T	-0.422969	0.30736	T	0.023263530734831	0.01055	T	0.814918	0.46941	T	0.07178126	0.15916	0.06310726	0.12451	0.07178126	0.15916	0.06310726	0.12451	-5.238	0.39326	T	.	.	0.076	0.06024	B	.;.	.;.	4.108388	0.61310	24.3	0.99562199871086821	0.71831	0.93284	0.57806	D	AEFDBI	0.362509	0.45174	N	0.505508847001764	0.67415	5.078605	0.495432604476477	0.67685	5.117459	0.99998732549564	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.8	4.9	0.63643	3.433000	0.52597	8.501000	0.77359	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.1358:0.0:0.8642:0.0	11.571	0.50086	306	0.87689	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1180.33	34	chr9	33933599	.	G	T	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.158;DP=731;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.464;SOR=1.088	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1194,0,1242	18	0	1	0
chr9	34249804	34249804	C	T	exonic	UBAP1	.	nonsynonymous SNV	UBAP1:NM_001171201:exon4:c.C1301T:p.S434L,UBAP1:NM_001171202:exon4:c.C1217T:p.S406L,UBAP1:NM_016525:exon5:c.C1109T:p.S370L,UBAP1:NM_001171203:exon6:c.C1109T:p.S370L,UBAP1:NM_001171204:exon6:c.C1109T:p.S370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00438407823762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.08310	T	0.23	0.31527	T	0.003	0.11197	B	0.006	0.12133	B	0.130705	0.18649	N	0.497022	0.996576	0.81001	D	1.185	0.30054	L	0.63	0.53088	T	-1.14	0.29323	N	0.473	0.64563	-1.0680	0.09858	T	0.068	0.27980	T	10	0.15444279	0.29132	T	0.004384	0.10687	T	0.141	0.37795	0.317	0.29419	0.553543533689	0.55011	0.37376644925967334	0.37290	.	.	0.549736261368	0.45820	T	0.101919	0.40914	T	0.0316503	0.55942	T	-0.192313	0.55373	T	0.48945090174675	0.32244	T	0.878012	0.59262	D	0.07192578	0.15961	0.0744052	0.16272	0.07192578	0.15960	0.0744052	0.16271	-3.688	0.19761	T	.	.	0.091	0.13221	B	.;.;.;.	.;.;.;.	3.560906	0.50099	22.9	0.99599902276705643	0.74160	0.87602	0.47195	D	AEFDBCI	0.358369	0.44907	N	-0.189346563426055	0.33578	1.906524	0.04621901035971	0.41888	2.524258	0.999999995428465	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	2.808000	0.47660	7.472000	0.59162	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9249:0.0:0.0751	12.597	0.55830	293	0.88320	.;.;.;.	.	.	.	.	.	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	1355.33	33	chr9	34249804	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.027;DP=745;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=3.53;SOR=0.484	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1369,0,1608	18	0	1	0
chr9	34256947	34256947	T	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.A2660T:p.D887V	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00647663548262	0.0002	0.000199681	4.119e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs141167651	1.437e-05	1.436e-05	2.178e-05	6.876e-06	0.0004	9.23e-06	7.84e-06	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0	8.994e-07	3.313e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.076	0.34269	T	0.261	0.23707	T	0.001	0.07471	B	0.001	0.04355	B	0.437655	0.04741	N	1.392360	1	0.08975	N	1.59	0.40313	L	1.55	0.29866	T	-1.98	0.51478	N	0.085	0.07673	-1.0088	0.27292	T	0.036	0.15726	T	10	0.023698151	0.00628	T	0.006477	0.17072	T	0.018	0.03083	.	.	0.260735089382	0.25697	0.10546232764138838	0.10476	.	.	0.200875893235	0.00483	T	0.004438	0.03847	T	-0.620112	0.00110	T	-0.746557	0.03622	T	0.0112345822142009	0.00165	T	0.622538	0.23960	T	0.10859688	0.25678	0.06312191	0.12455	0.10859688	0.25677	0.06312191	0.12454	-3.243	0.13945	T	.	.	0.097	0.18787	B	.;.	.;.	0.519479	0.08885	5.662	0.77528084989165136	0.11913	0.06609	0.12625	N	AEFDBI	0.095270	0.19250	N	-1.39572664810513	0.02678	0.118591	-1.46137168449755	0.02669	0.1231721	0.999998050488134	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.03	-5.63	0.02276	-0.740000	0.04966	-0.778000	0.07467	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.465000	0.28230	0.1059:0.2217:0.1061:0.5664	4.002	0.09073	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	40	chr9	34256947	.	T	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.851;DP=857;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.905;SOR=0.913	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1291,0,1420	18	0	1	0
chr9	34500798	34500798	A	C	exonic	DNAI1	.	nonsynonymous SNV	DNAI1:NM_001281428:exon11:c.A990C:p.Q330H,DNAI1:NM_012144:exon11:c.A978C:p.Q326H	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	240610	Kartagener_syndrome|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.296	.	0.0116	0.0101837	0.0031	0.0331	0.0015	0	0	4.515e-05	0.0056	6.122e-05	0.0029754	460	154602	rs16931555	0.0010	0.0010	0.0011	0.0009	0.0342	0.0009	0.0009	0.0326	0.0319	0.0342	0.0019	0	0	0	0.0035	3.507e-05	0.0025	9.275e-05	0.0097	0.0097	0.0099	0.0095	0.0328	0.0093	0.0091	0.0313	0.0308	0.0328	0	0.0061	0	0	0	0.0068	7.35e-05	0.0071	0	0.559	0.06401	T	0.576	0.08624	T	0.005	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.985071	0.40232	D	2.06	0.56677	M	-1.08	0.77078	T	-1.93	0.44852	N	0.535	0.56748	-0.9664	0.37934	T	0.113	0.40307	T	10	0.00628832	0.00142	T	.	.	.	0.296	0.61616	0.124	0.03018	0.82742518124	0.82579	0.6519240489992135	0.65128	0.108361906131	0.12219	0.625535845757	0.56512	T	0.031436	0.53388	T	-0.346298	0.04963	T	-0.244447	0.50362	T	0.00384680393901335	0.00041	T	0.89931	0.64723	D	0.16033365	0.35968	0.11618998	0.28049	0.18749651	0.40206	0.14885767	0.35170	-7.939	0.60653	D	0.12992243754010682	0.13618	0.211	0.43935	B	.;.	.;.	2.197039	0.28021	17.66	0.86045798238912619	0.16278	0.31774	0.24422	N	ALL	0.315613	0.42013	N	-0.445455935132924	0.23894	1.286391	-0.320149962067001	0.27448	1.523159	0.999999948734795	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.99	1.37	0.21200	1.900000	0.39460	1.945000	0.29852	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6164:0.0:0.3836:0.0	6.794	0.22901	293	0.88320	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.012228	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	3518.33	34	chr9	34500798	.	A	C	3518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=1066;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.688;SOR=0.66	GT:AD:DP:GQ:PL	0/1:118,138:256:99:3532,0,2911	18	0	1	0
chr9	34976212	34976212	C	T	exonic	PHF24	.	nonsynonymous SNV	PHF24:NM_001304333:exon4:c.C625T:p.R209W,PHF24:NM_001347982:exon4:c.C625T:p.R209W,PHF24:NM_001347983:exon4:c.C625T:p.R209W,PHF24:NM_015297:exon4:c.C625T:p.R209W	.	433	1087	2	0	0	2	0.000919118	.	.	.	3467080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.0351015021008	0.0002	0.000199681	9.111e-05	0.0006	0	0	0	5.995e-05	0	6.058e-05	7.76e-05	12	154602	rs189099874	3.968e-05	4.173e-05	4.629e-05	3.301e-05	0.0005	3.113e-05	2.847e-05	0.0003	0.0002	0.0005	4.472e-05	0	2.519e-05	0	0	2.608e-05	6.624e-05	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.927	0.51527	P	0.292	0.40739	B	0.005746	0.32538	N	0.298386	0.834918	0.34975	D	.	.	.	1.91	0.23283	T	-3.76	0.71276	D	0.369	0.41063	-1.0594	0.11905	T	0.043	0.18285	T	10	0.10198665	0.18667	T	0.035102	0.56125	D	0.124	0.34239	.	.	0.082315109003	0.07666	0.5533148904295249	0.55257	0.66949931502	0.59350	0.268622338772	0.05962	T	0.211378	0.57213	T	-0.39988	0.02319	T	-0.443427	0.28424	T	0.166713935777025	0.18353	T	0.935306	0.75759	D	0.17770204	0.38750	0.26136175	0.51912	0.17770204	0.38749	0.26136175	0.51911	-8.357	0.63478	D	.	.	0.103	0.18414	B	.	.	4.392931	0.67805	25.1	0.98784724187096162	0.46190	0.95388	0.64525	D	AEFBI	0.673909	0.63981	D	-0.168103786744592	0.34468	1.967679	-0.0830958658863651	0.36087	2.095812	0.987050058958634	0.31176	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	4.3	0.50540	3.221000	0.50917	3.338000	0.37683	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2636:0.7364:0.0:0.0	14.504	0.67324	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1234.33	34	chr9	34976212	.	C	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=714;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.237;SOR=0.483	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1248,0,1147	18	0	1	0
chr9	35042418	35042418	G	A	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_203299:exon1:c.G164A:p.R55K,C9orf131:NM_001040412:exon2:c.G20A:p.R7K	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0062	0.00419329	0.0017	0.0185	0.0009	0	0	2.997e-05	0	6.056e-05	0.0015588	241	154602	rs35629439	0.0006	0.0006	0.0007	0.0006	0.0203	0.0006	0.0006	0.0191	0.0186	0.0203	0.0010	0	0	0	0.0016	2.248e-05	0.0019	4.637e-05	0.0055	0.0055	0.0054	0.0055	0.0194	0.0052	0.0050	0.0183	0.0178	0.0194	0	0.0012	0	0	0	0	2.94e-05	0.0033	0	0.162	0.27663	T	0.3	0.20357	T	0.15	0.27995	B	0.072	0.28043	B	0.002391	0.36650	N	0.125415	0.972415	0.81001	D	1.245	0.31408	L	2.33	0.18570	T	-0.24	0.28084	N	0.217	0.30118	-1.0504	0.14285	T	0.013	0.05129	T	10	0.007120818	0.00162	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.14278985955004578	0.14201	0.0134066759332	0.01290	.	.	.	0.003575	0.02980	T	-0.495063	0.00609	T	-0.468963	0.25627	T	0.0469433721092072	0.04955	T	0.432757	0.17058	T	0.08981405	0.20996	0.12937663	0.31110	0.08981405	0.20995	0.12937663	0.31109	-3.747	0.27126	T	.	.	0.176	0.38409	B	.;.	.;.	2.091347	0.26601	17.18	0.80336639086768358	0.13155	0.62554	0.31817	D	AEFDGBCIJ	0.116877	0.22920	N	-0.459727400369844	0.23412	1.257046	-0.357574911957415	0.26275	1.450274	0.999999983388207	0.74766	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	4.78	2.94	0.33188	1.725000	0.37696	2.702000	0.34168	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.1971:0.0:0.8029:0.0	7.424	0.26260	110	0.95498	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2822.33	34	chr9	35042418	.	G	A	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=844;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-2.488;SOR=0.736	GT:AD:DP:GQ:PL	0/1:93,105:198:99:2836,0,2382	18	0	1	0
chr9	35351938	35351938	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.C412T:p.P138S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs981077042	1.204e-05	8.893e-06	1.403e-05	9.808e-06	0.0006	6.72e-06	5.18e-06	0.0003	0.0003	0.0006	0	0	0	0	0	0	0	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.735e-05	8.25e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27677843	0.45242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562444	0.19755	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30894	B	.	.	3.204439	0.43592	21.8	0.85187139378497789	0.15738	0.95309	0.64221	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999020287866431	0.38237	0.062308	0.01283	0	0.060609	0.00678	0	0.078618	0.02440	0	0.089874	0.02613	0	0.758833	0.45028	5.49	4.59	0.56297	3.046000	0.49536	4.088000	0.41786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.8688:0.1312:0.0	16.446	0.83773	130	0.94779	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	41.48	.	chr9	35351938	.	C	T	41.48	.	AC=2;AF=0.143;AN=14;DP=13;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;QD=20.74;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	12
chr9	35853601	35853601	G	A	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001042590:exon13:c.G2536A:p.V846I,TMEM8B:NM_001042589:exon14:c.G1180A:p.V394I	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0107755459244	0.0013	0.000399361	0.0003	0.0021	0.0003	0	0	0.0002	0	6.057e-05	0.0002911	45	154602	rs200757405	0.0002	0.0002	0.0003	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0004	0	0	0	0.0005	0.0002	0.0006	8.115e-05	0.0008	0.0008	0.0010	0.0007	0.0020	0.0007	0.0007	0.0016	0.0015	0.0020	0	0.0008	0.0003	0	0	0.0102	0.0004	0.0019	0	0.917	0.02327	T	0.52	0.10465	T	0.031	0.20130	B	0.02	0.19048	B	.	.	.	.	0.853839	0.28457	N	.	.	.	1.08	0.39401	T	0.29	0.04161	N	0.099	0.08227	-0.9488	0.41177	T	0.054	0.22883	T	9	0.008127749	0.00184	T	0.010776	0.27705	T	0.068	0.19811	.	.	0.0762999501168	0.06990	0.5743972149680238	0.57368	0.421377757999	0.42644	0.276763916016	0.07045	T	0.013053	0.11362	T	-0.604619	0.00137	T	-0.646818	0.09178	T	0.001009995530899	0.00010	T	0.588541	0.22456	T	0.03156222	0.03017	0.06090433	0.11674	0.03156222	0.03017	0.06090433	0.11674	-5.524	0.42092	T	.	.	0.052	0.00239	B	.;.;.;.	.;.;.;.	0.005282	0.04317	1.093	0.58969438419633557	0.06115	0.34950	0.25188	N	AEFBI	0.095931	0.19375	N	-1.11510488730348	0.06373	0.2932291	-1.07649701801251	0.08164	0.4002392	0.277095639101474	0.18951	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.28	-4.06	0.03718	0.611000	0.23965	-0.266000	0.10387	-0.105000	0.15698	0.270000	0.25046	0.000000	0.08366	0.091000	0.17840	0.1039:0.0:0.8961:0.0	17.601	0.87924	169	0.93437	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2857.33	39	chr9	35853601	.	G	A	2857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=871;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.653;SOR=0.773	GT:AD:DP:GQ:PL	0/1:101,113:214:99:2871,0,2321	18	0	1	0
chr9	35906599	35906604	CCACCC	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.312_317del:p.P106_H107del	.	851	653	3	0	15	18	0.00229183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0	0.0004	0	0.0034	0.0045	0	0.0010	0.0014295	221	154602	rs764113748	8.68e-05	0.0001	6.829e-05	0.0001	0.0001	7.286e-05	6.694e-05	8.473e-05	7.801e-05	0	0	0	0	3.939e-05	0	0.0001	8.544e-05	4.353e-05	3.016e-05	2.26e-05	5.686e-05	0	6.225e-05	5e-06	1.87e-06	1.031e-05	3.86e-06	0	0	0	0	0	0	0	6.225e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	962.38	40	chr9	35906598	.	ACCACCC	A	962.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.672;DP=710;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1878;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.48;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,2:21:27:.:.:27,0,728:.	15	0	2	2
chr9	35906603	35906603	C	0	exonic	HRCT1	.	.	.	.	865	603	28	6	20	60	0.0321027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	66.24	43	chr9	35906603	.	C	*	66.24	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.057;DP=690;ExcessHet=0.7564;FS=1.192;InbreedingCoeff=-0.1203;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.58;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,2:21:27:.:.:27,0,728:.	17	0	2	0
chr9	35906604	35906604	C	0	exonic	HRCT1	.	.	.	.	919	482	25	5	91	126	0.035035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1788.73	15	chr9	35906604	.	C	*	1788.73	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.516;DP=676;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0853;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.568;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,2:21:27:.:.:27,0,728:.	14	0	2	3
chr9	61193088	61193088	A	C	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.A1002C:p.E334D,SPATA31A7:NM_015667:exon4:c.A1002C:p.E334D	.	573	946	3	0	0	3	0.00158311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1157379835	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	5.839e-05	0.0025	1.21e-05	0.0003	0.0048	5.839e-05	8.564e-05	0	0.0001	0.0022	2.206e-05	1.439e-05	0.0008	0.0005	0	0	0	0	0	0	0	2.238e-05	0	0.0022	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.05482477	0.05896	T	.	.	.	.	.	.	.	.	.	0.22287660494865427	0.22202	.	.	.	.	.	0.038	0.24860	T	.	.	.	.	.	.	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-5.495	0.41821	T	.	.	0.223	0.45470	B	.	.	0.334939	0.07086	3.659	.	.	.	.	.	.	0.032337	0.03632	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.759000	0.04866	-6.283000	0.01442	0.257000	0.18371	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6832.34	36	chr9	61193088	.	A	C	6832.34	.	AC=2;AF=0.071;AN=28;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.107;MQ=34.21;QD=29.58;SOR=1.367	GT:AD:DP:GQ:PL	1/1:0,231:231:99:6855,693,0	13	1	0	5
chr9	65733019	65733021	ACA	-	exonic	CBWD5	.	nonframeshift deletion	CBWD5:NM_001024916:exon12:c.834_836del:p.Q280del,CBWD5:NM_001363751:exon13:c.921_923del:p.Q309del,CBWD5:NM_001330668:exon14:c.978_980del:p.Q328del,CBWD5:NM_001286835:exon16:c.321_323del:p.Q109del	.	566	955	1	0	0	1	0.000523286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319787884	2.124e-05	5.199e-05	1.773e-05	2.479e-05	0.0015	1.522e-05	1.326e-05	0.0006	0.0004	3e-05	0	0	0	0	0.0015	1.889e-05	3.323e-05	1.161e-05	2.637e-05	4.598e-05	2.578e-05	2.7e-05	5.88e-05	8.16e-06	5.15e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	499.29	40	chr9	65733018	.	CACA	C	499.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=788;ExcessHet=0;FS=14.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.97;MQRankSum=-4.03;QD=3.57;ReadPosRankSum=-3.489;SOR=2.403	GT:AD:DP:GQ:PL	0/1:119,21:140:99:513,0,4902	18	0	1	0
chr9	68298990	68298992	ACA	-	exonic	CBWD3	.	nonframeshift deletion	CBWD3:NM_001378117:exon11:c.765_767del:p.Q257del,CBWD3:NM_001378116:exon12:c.831_833del:p.Q279del,CBWD3:NM_001291821:exon13:c.918_920del:p.Q308del,CBWD3:NM_001378113:exon13:c.909_911del:p.Q305del,CBWD3:NM_001378114:exon13:c.891_893del:p.Q299del,CBWD3:NM_001378115:exon13:c.891_893del:p.Q299del,CBWD3:NM_201453:exon14:c.978_980del:p.Q328del	.	589	932	1	0	0	1	0.000536193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.066e-06	2.121e-05	0	4.154e-06	1.177e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.177e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	855.29	34	chr9	68298989	.	CACA	C	855.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=724;ExcessHet=0;FS=16.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.8;MQRankSum=-5.145;QD=8.55;ReadPosRankSum=1.81;SOR=0.689	GT:AD:DP:GQ:PL	0/1:74,26:100:99:869,0,3001	18	0	1	0
chr9	74842233	74842233	G	A	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon4:c.C248T:p.T83M,TRPM6:NM_001177311:exon4:c.C248T:p.T83M,TRPM6:NM_017662:exon4:c.C263T:p.T88M	Hypomagnesemia 1, intestinal, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	319761	not_provided|Intestinal_hypomagnesemia_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0346019601583	.	0.000599042	0.0002	0.0002	8.637e-05	0.0001	0	1.498e-05	0	0.0010	0.0001617	25	154602	rs191344898	0.0001	0.0001	6.806e-05	0.0002	0.0014	0.0001	9.567e-05	0.0012	0.0011	0.0001	0.0001	3.826e-05	0.0001	0	0.0009	2.068e-05	9.934e-05	0.0014	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0007	0	0	0	0	4.413e-05	0	0.0012	0.165	0.28395	T	0.159	0.31527	T	0.005	0.26641	B	0.017	0.27321	B	0.017458	0.27721	N	0.430897	1	0.08975	N	1.09	0.27330	L	0.44	0.64630	T	-0.02	0.19720	N	0.168	0.18376	-1.0726	0.08851	T	0.085	0.33269	T	10	0.0072985888	0.00166	T	0.034602	0.55783	D	0.045	0.12272	.	.	0.082315109003	0.07666	0.22574980735011338	0.22489	0.259585898146	0.28516	0.205405071378	0.00631	T	0.213719	0.57511	T	-0.466675	0.00892	T	-0.488675	0.23531	T	0.00723972776904702	0.00083	T	0.727127	0.34152	T	0.019847149	0.00525	0.032687	0.02043	0.019847149	0.00525	0.032687	0.02043	-7.63	0.58520	D	0.14878849683184153	0.17351	0.072	0.04316	B	.;.;.;.	.;.;.;.	0.645543	0.10142	6.884	0.58459829034828004	0.05998	0.06677	0.12696	N	AEFI	0.106291	0.21211	N	-1.63975301187761	0.01079	0.04682587	-1.65975328644549	0.01326	0.0598512	9.83698233706978E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	-4.38	0.03371	0.102000	0.15108	-0.249000	0.10523	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.591000	0.31164	0.3046:0.0777:0.3004:0.3173	1.644	0.02592	648	0.63242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003049	0.000000	0.02632	1337.33	41	chr9	74842233	.	G	A	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=863;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.092;SOR=0.569	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1351,0,1531	18	0	1	0
chr9	88130057	88130057	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G2980A:p.V994I,SPATA31C2:NM_001350978:exon4:c.G2980A:p.V994I	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	0.0042	0	0.0002	0.0002	0	3.003e-05	0.0056	0.0300	0.003564	551	154602	rs369026353	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	9e-05	6.744e-05	0	0.0002	0	0.0007	2.885e-05	0.0018	0.0303	0.0010	0.0010	0.0005	0.0015	0.0304	0.0009	0.0008	0.0264	0.0249	2.406e-05	0	6.541e-05	0	0	0	0	8.819e-05	0	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002364	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.004132	0.02632	3293.33	308	chr9	88130057	.	C	T	3293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.72;DP=2168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.64;MQRankSum=0.065;QD=10.13;ReadPosRankSum=0.977;SOR=0.683	GT:AD:DP:GQ:PL	0/1:193,132:325:99:3307,0,4560	18	0	1	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	0/1:238,170:424:99:1236,0,3379	1	0	18	0
chr9	101594840	101594840	-	A	exonic	PPP3R2	.	stopgain	PPP3R2:NM_147180:exon1:c.81dupT:p.K28*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.867e-07	6.84e-07	1.367e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2000.29	34	chr9	101594840	.	T	TA	2000.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.123;SOR=0.738	GT:AD:DP:GQ:PL	0/1:93,75:168:99:2014,0,2697	18	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.07895	7825.77	176	chr9	104694845	.	A	G	7825.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.228;DP=1544;ExcessHet=0;FS=1.97;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=59.89;MQRankSum=-0.143;QD=22.3;ReadPosRankSum=-0.322;SOR=0.814	GT:AD:DP:GQ:PL	0/1:99,81:180:99:2117,0,2732	17	1	1	0
chr9	105468272	105468272	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon3:c.G191T:p.S64I,FSD1L:NM_001287192:exon3:c.G191T:p.S64I,FSD1L:NM_001330739:exon3:c.G191T:p.S64I,FSD1L:NM_031919:exon3:c.G191T:p.S64I,FSD1L:NM_001145313:exon4:c.G287T:p.S96I	.	478	1025	16	3	0	22	0.0106178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0070	0.00419329	0.0115	0.0021	0.0073	0	0.0134	0.0096	0.0039	0.0182	0.0030401	470	154602	rs41316532	0.0090	0.0085	0.0087	0.0093	0.0154	0.0089	0.0088	0.0146	0.0143	0.0008	0.0024	0.0041	0	0.0150	0.0107	0.0090	0.0085	0.0154	0.0065	0.0065	0.0065	0.0066	0.0160	0.0062	0.0061	0.0131	0.0120	0.0015	0	0.0032	0.0035	0	0.0148	0.0102	0.0092	0.0047	0.0160	0.373	0.15613	T	0.005	0.72224	D	0.958	0.55854	D	0.731	0.55321	P	0.000001	0.84330	U	0.000000	0.998917	0.81001	D	2.125	0.59049	M	0.89	0.45636	T	-1.88	0.43906	N	0.245	0.35194	-0.9864	0.33494	T	0.146	0.47003	T	10	0.0062506497	0.00141	T	.	.	.	0.104	0.29647	.	.	.	.	0.2526506555990148	0.25179	.	.	0.504707276821	0.39484	T	0.011386	0.20890	T	-0.399336	0.02338	T	-0.334071	0.41014	T	0.0199375652469306	0.00694	T	0.822018	0.48435	T	0.35095847	0.57142	0.24878375	0.50436	0.35095847	0.57142	0.24878375	0.50435	-4.993	0.42883	T	.	.	0.176	0.43680	B	.;.;.;.;.;.	.;.;.;.;.;.	3.857481	0.55922	23.7	0.99604712883829216	0.74456	0.96286	0.68399	D	AEFBI	0.544310	0.55929	D	0.54594108279199	0.69835	5.413843	0.618877642340096	0.76313	6.467733	0.999999998718641	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.98	5.98	0.97147	4.657000	0.61185	4.480000	0.43530	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.208	0.93728	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, 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	0.010050	0.005319	0.008621	0.013393	0.000000	0.000000	0.006098	0.000000	0.02632	592.33	33	chr9	105468272	.	G	T	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.223;SOR=0.73	GT:AD:DP:GQ:PL	0/1:43,25:68:99:606,0,1009	18	0	1	0
chr9	110800309	110800309	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.T671C:p.V224A,MUSK:NM_001166281:exon12:c.T1643C:p.V548A,MUSK:NM_001166280:exon13:c.T1673C:p.V558A,MUSK:NM_005592:exon14:c.T1931C:p.V644A	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1504	17	1	0	19	0.00627684	.	.	.	253279	not_provided|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|not_specified	MedGen:C3661900|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	0.0970055682466	0.0025	0.00179712	0.0028	0.0003	0.0010	0.0001	0.0021	0.0037	0.0024	0.0042	0.0026908	416	154602	rs41279055	0.0037	0.0037	0.0037	0.0036	0.0041	0.0036	0.0036	0.0040	0.0040	0.0003	0.0018	0.0016	0	0.0026	0.0040	0.0041	0.0032	0.0035	0.0027	0.0027	0.0024	0.0029	0.0046	0.0024	0.0024	0.0036	0.0035	0.0004	0	0.0032	0.0020	0	0.0027	0.0034	0.0040	0.0033	0.0046	0.002	0.72154	D	0.003	0.79402	D	0.373	0.34173	B	0.396	0.44364	B	0.000006	0.62929	D	0.063149	1	0.81001	D	1.435	0.35949	L	-1.7	0.83072	D	-3.71	0.70674	D	0.871	0.93018	-0.0676	0.80832	T	0.423	0.76763	T	10	0.057576776	0.06634	T	0.097006	0.76700	D	0.805	0.93660	.	.	0.849818709167	0.84837	0.6924260660013182	0.69182	0.756905098849	0.64057	0.796596288681	0.81446	T	0.481056	0.80978	T	0.00689684	0.52601	T	0.236986	0.85005	D	0.0360591295762086	0.02992	T	0.769823	0.39947	T	0.57534623	0.71354	0.55415136	0.74215	0.58510226	0.71887	0.64054227	0.79001	-10.283	0.75589	D	0.4229103633456847	0.51139	0.683	0.73000	P	.;.;.;.	.;.;.;.	3.738890	0.53529	23.4	0.99784028026709548	0.87043	0.98923	0.88681	D	AEFGBI	0.929285	0.91480	D	0.216838402520189	0.52015	3.378498	0.2925395247629	0.55102	3.673715	0.999999994025041	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.951000	0.87297	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.0:0.0:1.0	14.301	0.65900	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1988.33	40	chr9	110800309	.	T	C	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=869;ExcessHet=0;FS=7.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.224;SOR=1.246	GT:AD:DP:GQ:PL	0/1:86,75:161:99:2002,0,2243	18	0	1	0
chr9	112111717	112111717	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.G1108A:p.V370M,SUSD1:NM_001282643:exon8:c.G1108A:p.V370M,SUSD1:NM_022486:exon8:c.G1108A:p.V370M	.	429	1082	11	0	0	11	0.00505747	.	.	.	723248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.097	0.0372635756711	0.0023	0.000998403	0.0022	0.0002	0.0042	0	0.0002	0.0031	0.0055	0.0001	0.0021798	337	154602	rs146611081	0.0030	0.0030	0.0029	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0004	0.0035	0.0135	0	7.488e-05	0.0068	0.0032	0.0037	0.0002	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0006	0	0.0024	0.0132	0	0	0.0068	0.0024	0.0028	0.0002	0.031	0.46129	D	0.007	0.70582	D	0.975	0.58077	D	0.424	0.45210	B	0.021106	0.26899	N	0.185929	1	0.08975	N	2.785	0.81254	M	-0.91	0.75670	T	-1.33	0.33197	N	0.228	0.26475	-0.5208	0.67884	T	0.371	0.73016	T	10	0.0047426224	0.00100	T	0.037264	0.57510	D	0.281	0.59861	.	.	0.506373324096	0.50276	0.568278895837355	0.56755	0.197480517235	0.22124	0.366599887609	0.20343	T	0.059504	0.31133	T	-0.426477	0.01557	T	-0.386219	0.34995	T	0.0231086612748035	0.01037	T	0.750125	0.37153	T	0.028860273	0.02288	0.05759965	0.10497	0.028860273	0.02288	0.05759965	0.10497	-7.218	0.55610	T	.	.	0.138	0.35393	B	.;.;.	.;.;.	0.431667	0.08022	4.739	0.99674541523092997	0.78846	0.04197	0.09704	N	AEFBI	0.067539	0.13282	N	-0.203300905073977	0.32998	1.867243	-0.366909802667865	0.25992	1.432796	0.999965599065644	0.48965	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.6	3.73	0.41982	-0.367000	0.07607	-2.215000	0.04046	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.8333:0.0:0.1667	9.495	0.38149	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.004076	0.008772	0.050000	0.017241	0.006098	0.000000	0.02632	1429.33	34	chr9	112111717	.	C	T	1429.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=746;ExcessHet=0;FS=7.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.15;SOR=0.297	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1443,0,1222	18	0	1	0
chr9	114331843	114331843	A	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon5:c.A454T:p.T152S	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0031835660566	0.0009	.	0.0010	9.694e-05	0.0015	0	0.0003	0.0011	0.0011	0.0021	0.0008926	138	154602	rs147741369	0.0011	0.0011	0.0010	0.0013	0.0025	0.0011	0.0011	0.0023	0.0021	0.0003	0.0015	0	0	0.0003	0.0023	0.0012	0.0009	0.0025	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0012	0.0011	0.0002	0	0.0018	0	0	0.0002	0	0.0012	0.0028	0.0019	0.172	0.22660	T	0.178	0.29639	T	0.308	0.32740	B	0.07	0.27859	B	0.031559	0.25152	N	0.424494	1	0.08975	N	1.365	0.34158	L	2.7	0.12162	T	-1.66	0.39692	N	0.067	0.03956	-1.0392	0.17556	T	0.027	0.11574	T	10	0.0078189075	0.00177	T	0.003184	0.06966	T	0.018	0.03083	0.449	0.50957	0.262175524916	0.25828	0.1367720965130281	0.13601	0.0122362518792	0.01164	.	.	.	0.009763	0.08869	T	-0.532874	0.00369	T	-0.544071	0.17899	T	0.00477364013416645	0.00051	T	0.473453	0.14099	T	0.15912887	0.35762	0.11103868	0.26782	0.15912887	0.35762	0.11103868	0.26781	-3.028	0.10486	T	.	.	0.119	0.24464	B	.	.	1.032667	0.14128	10.70	0.89261857722428295	0.18647	0.07100	0.13125	N	AEFDBCI	0.286235	0.39867	N	-0.788199979316433	0.13616	0.6721083	-0.908183801315065	0.11900	0.6091076	0.999946126471463	0.47345	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.56	0.844	0.18083	0.141000	0.15897	1.516000	0.27058	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5721:0.0:0.0:0.4279	5.897	0.18186	628	0.65206	Lipocalin/cytosolic fatty-acid 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	0.001657	0.000000	0.001362	0.000000	0.000000	0.000000	0.003401	0.003906	0.02632	1296.33	39	chr9	114331843	.	A	T	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=801;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.46;MQRankSum=0.016;QD=9.6;ReadPosRankSum=1.84;SOR=0.473	GT:AD:DP:GQ:PL	0/1:81,54:135:99:1310,0,2153	18	0	1	0
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	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	.	.	.	.	.	.	.	.	0.02778	1045.61	103	chr9	114406373	.	C	G	1045.61	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.404;DP=1914;ExcessHet=0.119;FS=297.34;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.078;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35:163:99:0|1:114406373_C_G:472,0,4672:114406373	17	0	1	1
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|1:128,35:163:99:0|1:114406373_C_G:472,0,4672:114406373	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|1:128,35:163:99:0|1:114406373_C_G:472,0,4672:114406373	8	0	10	1
chr9	119168138	119168138	C	T	exonic	BRINP1	.	nonsynonymous SNV	BRINP1:NM_014618:exon8:c.G1232A:p.R411Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	711731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.290	0.0195023781613	0.0012	0.000998403	0.0020	0.0025	0.0079	0.0018	0	0.0009	0.0029	0.0030	0.0015912	246	154602	rs141766717	0.0011	0.0011	0.0011	0.0012	0.0042	0.0011	0.0011	0.0037	0.0035	0.0029	0.0042	0.0010	0.0017	3.789e-05	0.0014	0.0009	0.0012	0.0021	0.0015	0.0015	0.0014	0.0017	0.0027	0.0014	0.0013	0.0021	0.0020	0.0025	0	0.0013	0.0014	0.0023	0	0	0.0011	0.0014	0.0027	0.081	0.33418	T	0.166	0.30828	T	0.993	0.65571	D	0.539	0.48797	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.355	0.33814	L	0.03	0.62183	T	-2.03	0.46673	N	0.734	0.73465	-0.6669	0.61968	T	0.244	0.61260	T	10	0.010384291	0.00231	T	0.019502	0.41878	T	0.290	0.60924	.	.	0.45353014845	0.44977	0.47781928398167317	0.47701	0.521564564814	0.49923	0.67820763588	0.64012	T	0.07047	0.33969	T	-0.178418	0.23972	T	-0.0289314	0.68440	D	0.0341375723519686	0.02660	T	0.919808	0.70989	D	0.28364098	0.51395	0.23070976	0.48182	0.28364098	0.51395	0.23070976	0.48181	-3.512	0.16600	T	.	.	0.085	0.10256	B	.	.	4.456668	0.69330	25.4	0.99926436316716016	0.99103	0.96305	0.68491	D	AEFDBI	0.744566	0.68751	D	0.536479780268938	0.69261	5.332153	0.598708512364187	0.74847	6.207233	0.999999999999958	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	4.964000	0.63410	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.821	0.96592	494	0.76445	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.005051	0.000000	0.002924	0.000000	0.000000	0.003086	0.000000	0.02632	954.33	36	chr9	119168138	.	C	T	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=738;ExcessHet=0;FS=6.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.68;SOR=1.382	GT:AD:DP:GQ:PL	0/1:39,34:73:99:968,0,981	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	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|1:292,47:339:99:0|1:122724732_T_C:905,0,12049:122724732	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	0/1:279,36:315:99:.:.:584,0,8738:.	4	0	12	3
chr9	123363048	123363048	G	A	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon2:c.G278A:p.R93H	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	427	1074	20	1	0	22	0.0101382	.	.	.	723318	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00299521	0.0058	0.0013	0.0042	0	0.0006	0.0090	0.0068	0.0018	0.0058473	904	154602	rs138381817	0.0075	0.0075	0.0076	0.0074	0.0137	0.0073	0.0073	0.0113	0.0104	0.0011	0.0049	0.0244	7.558e-05	0.0013	0.0137	0.0082	0.0084	0.0021	0.0057	0.0057	0.0063	0.0050	0.0090	0.0054	0.0053	0.0084	0.0082	0.0013	0.0044	0.0058	0.0222	0	0.0005	0.0136	0.0090	0.0076	0.0014	0.219	0.19023	T	0.065	0.51737	T	0.229	0.30546	B	0.034	0.22546	B	0.017634	0.27675	N	0.172979	0.978769	0.39494	D	0.83	0.20963	L	0.12	0.61089	T	-1.48	0.36189	N	0.446	0.48411	-1.0160	0.25013	T	0.070	0.28609	T	10	0.01431787	0.00301	T	.	.	.	0.062	0.17934	.	.	0.697125617977	0.69451	0.12339958201605356	0.12265	0.337466723729	0.35739	0.346648484468	0.17427	T	0.08799	0.38062	T	-0.467238	0.00885	T	-0.436824	0.29164	T	0.00950651984723468	0.00123	T	0.772323	0.40460	T	0.06272982	0.13134	0.041013576	0.04567	0.06462827	0.13730	0.041013576	0.04566	-4.602	0.32197	T	0.3353484297034376	0.43328	0.084	0.09868	B	.;.	.;.	3.422175	0.47522	22.5	0.9972305768718841	0.82195	0.07994	0.13975	N	AEFGBI	0.095965	0.19381	N	-0.480311259376914	0.22727	1.215553	-0.401564169427853	0.24952	1.369	0.99996092901074	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.7	2.69	0.30923	0.990000	0.29242	7.084000	0.57482	0.665000	0.62972	0.052000	0.21487	1.000000	0.68203	0.950000	0.49671	0.104:0.1689:0.5289:0.1981	2.665	0.04732	385	0.83500	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	RP11-542K23.9	Cells_Cultured_fibroblasts	.	Likely benign	0	0	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	0.009063	0.005051	0.008152	0.011696	0.000000	0.017241	0.009146	0.011364	0.02632	999.33	39	chr9	123363048	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.199;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.194;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,41:68:99:0|1:123363039_C_A:1013,0,634:123363039	18	0	1	0
chr9	123382111	123382111	G	T	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2384A:p.A795D,DENND1A:NM_020946:exon22:c.C2351A:p.A784D,DENND1A:NM_001352964:exon24:c.C2534A:p.A845D	.	427	1073	21	1	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.00319489	0.0075	0.0013	0.0086	0	0.0013	0.0101	0.0079	0.0029	0.0046442	718	154602	rs189947178	0.0070	0.0069	0.0071	0.0068	0.0127	0.0068	0.0068	0.0103	0.0094	0.0011	0.0049	0.0035	2.58e-05	0.0014	0.0127	0.0081	0.0068	0.0019	0.0052	0.0052	0.0058	0.0045	0.0089	0.0049	0.0047	0.0083	0.0081	0.0013	0.0044	0.0054	0.0035	0	0.0005	0.0137	0.0089	0.0071	0.0012	0.017	0.51248	D	0.049	0.48336	D	0.926	0.51467	P	0.454	0.46241	P	0.002785	0.35935	N	0.251626	0.643062	0.32894	D	2.48	0.72069	M	3.34	0.06063	T	-0.79	0.21860	N	0.394	0.43514	-1.1363	0.01503	T	0.049	0.20750	T	10	0.00904265	0.00205	T	.	.	.	0.054	0.15330	.	.	0.151262610727	0.14761	0.49019780521108614	0.48939	1.26176195627	0.82047	0.588476777077	0.51279	T	0.031826	0.22214	T	-0.496562	0.00598	T	-0.480786	0.24364	T	0.0225354423629346	0.00969	T	0.765423	0.39305	T	0.2383643	0.46713	0.2375799	0.49059	0.2383643	0.46713	0.2375799	0.49058	-6.47	0.50054	T	.	.	0.182	0.39579	B	.	.	2.784940	0.36596	20.3	0.99404905956106893	0.62981	0.88581	0.48576	D	AEFDBI	0.519368	0.54468	D	0.0695743450438619	0.45047	2.767936	0.0600842561722556	0.42561	2.576491	0.999926650935492	0.46280	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	3.5	0.39181	2.503000	0.45067	9.814000	0.81764	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.0:0.3391:0.5308:0.1301	9.639	0.38993	379	0.83778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008105	0.005208	0.009511	0.011696	0.000000	0.017241	0.006211	0.003788	0.02632	938.33	33	chr9	123382111	.	G	T	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.444;DP=747;ExcessHet=0;FS=5.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.081;SOR=1.137	GT:AD:DP:GQ:PL	0/1:28,36:64:99:952,0,773	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,32:91:99:.:.:749,0,1365:.	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,24:95:99:0|1:127707149_T_C:129,0,2175:127707149	10	0	7	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	1618.24	51	chr9	127707150	.	T	C	1618.24	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.516;DP=1273;ExcessHet=1.3;FS=159.969;InbreedingCoeff=-0.1413;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=0.952;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,36:93:99:0|1:127707149_T_C:777,0,1364:127707149	14	0	5	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	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	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.05263	3113.83	33	chr9	128634837	.	C	T	3113.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.857;DP=893;ExcessHet=0.119;FS=0.905;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.52;SOR=0.632	GT:AD:DP:GQ:PL	0/1:70,80:150:99:1903,0,1695	17	0	2	0
chr9	128908081	128908081	G	A	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.G917A:p.R306H,LRRC8A:NM_001127244:exon3:c.G917A:p.R306H,LRRC8A:NM_019594:exon3:c.G917A:p.R306H	.	0	1521	1	0	0	1	0.000328623	.	.	.	1354842	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0121950229113	.	.	4.947e-05	0	0.0003	0.0001	0	1.5e-05	0	6.058e-05	3.88e-05	6	154602	rs768085461	2.326e-05	2.326e-05	2.723e-05	1.925e-05	0.0002	1.674e-05	1.477e-05	4.358e-05	2.767e-05	0.0001	0.0001	0	5.038e-05	1.877e-05	0.0002	1.079e-05	3.311e-05	8.115e-05	2.631e-05	2.627e-05	1.286e-05	4.039e-05	0.0002	8.15e-06	5.14e-06	5.297e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.048	0.48594	D	0.984	0.60733	D	0.444	0.45865	B	0.000011	0.62929	D	0.124676	0.99929	0.46578	D	1.04	0.26193	L	0.92	0.44461	T	-0.67	0.19297	N	0.559	0.65245	-0.9740	0.36344	T	0.101	0.37443	T	10	0.31119278	0.48591	T	0.012195	0.30540	T	0.178	0.44724	.	.	0.36413608308	0.36018	0.754839272335234	0.75430	1.25738279901	0.81943	0.689229488373	0.65595	T	0.026085	0.19376	T	-0.205495	0.20017	T	-0.335985	0.40800	T	0.150144979357719	0.17115	T	0.868913	0.57225	D	0.124155395	0.29136	0.08631611	0.19989	0.124155395	0.29136	0.08631611	0.19988	-4.691	0.33295	T	.	.	0.092	0.13597	B	.;.;.	.;.;.	5.403615	0.90479	31	0.99763207520922847	0.85254	0.97961	0.78453	D	AEFDGBI	0.852956	0.76989	D	0.437302363417497	0.63488	4.58332	0.504634393668572	0.68303	5.201281	0.999999997072412	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	6.792000	0.74912	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.482	0.87569	900	0.24599	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3493.33	33	chr9	128908081	.	G	A	3493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.877;DP=1467;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.474;SOR=0.719	GT:AD:DP:GQ:PL	0/1:113,139:252:99:3507,0,2936	18	0	1	0
chr9	128947302	128947302	-	T	exonic	DOLK	.	nonframeshift insertion	DOLK:NM_014908:exon1:c.1dupA:p.M1M	Congenital disorder of glycosylation, type Im, Autosomal recessive	3	1506	12	1	0	14	0.00462657	.	.	.	177679	not_specified|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	0.00259585	0.0081	0.0012	0.0020	0	0.0090	0.0130	0.0082	0.0009	0.0009221	24	26028	rs531969689	0.0074	0.0074	0.0075	0.0073	0.0088	0.0073	0.0072	0.0086	0.0086	0.0013	0.0024	0.0016	2.519e-05	0.0083	0.0015	0.0088	0.0056	0.0008	0.0055	0.0055	0.0055	0.0055	0.0092	0.0052	0.0050	0.0086	0.0083	0.0015	0	0.0027	0.0012	0	0.0089	0	0.0092	0.0033	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	951.29	36	chr9	128947302	.	A	AT	951.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=690;ExcessHet=0;FS=5.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=-0.195;SOR=1.863	GT:AD:DP:GQ:PL	0/1:22,30:52:99:965,0,666	18	0	1	0
chr9	128968669	128968669	A	G	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon9:c.A749G:p.N250S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.012079515607	.	.	6.599e-05	0	0	0	0	3e-05	0	0.0004	5.82e-05	9	154602	rs747280522	3.626e-05	3.694e-05	2.042e-05	5.225e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0002	5.974e-05	0	0.0002	5.038e-05	0	0.0002	9.892e-06	3.312e-05	0.0003	3.939e-05	3.937e-05	5.139e-05	2.685e-05	0.0004	1.714e-05	1.129e-05	7.293e-05	3.03e-05	2.406e-05	0	0	0	0	0	0	4.409e-05	0	0.0004	0.332	0.13045	T	0.0	0.92824	D	0.997	0.70673	D	0.981	0.75168	D	0.000000	0.84330	N	0.038682	0.999435	0.47043	D	0.975	0.24501	L	1.45	0.32482	T	-1.55	0.37566	N	0.421	0.46086	-1.0762	0.08104	T	0.109	0.39392	T	10	0.32108968	0.49476	T	0.01208	0.30328	T	0.183	0.45592	0.637	0.77361	0.330131851566	0.32626	0.44550888420386053	0.44468	0.653574000201	0.58489	0.552945196629	0.46273	T	0.03177	0.22192	T	-0.42675	0.01551	T	-0.540255	0.18272	T	0.153420656919479	0.17373	T	0.891611	0.62654	D	0.07035514	0.15490	0.07222405	0.15557	0.07035514	0.15490	0.07222405	0.15557	-2.231	0.04194	T	.	.	0.177	0.38658	B	.	.	3.698750	0.52737	23.3	0.99831027562019159	0.91284	0.98140	0.79942	D	AEFBI	0.743453	0.68675	D	0.414376618452198	0.62212	4.433518	0.431081218013505	0.63512	4.58627	0.999996240679843	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.34	0.51267	6.844000	0.75184	6.785000	0.56592	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.927:0.0:0.073:0.0	11.238	0.48183	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	34	chr9	128968669	.	A	G	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.818;DP=709;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.079;SOR=0.495	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1230,0,1016	18	0	1	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D	.	425	1062	31	4	0	39	0.0180305	.	.	.	1687699	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	917	0.20147	.	.	.	.	.	.	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	0.012588	0.015152	0.006793	0.005848	0.000000	0.034483	0.021341	0.018939	0.02632	1195.33	38	chr9	128999742	.	G	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.162;DP=816;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.21;SOR=0.437	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1209,0,1741	18	0	1	0
chr9	129005527	129005527	T	G	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon40:c.T4734G:p.D1578E	.	425	1088	9	0	0	9	0.00411899	.	.	.	723355	NUP188-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0069	0.00239617	0.0077	0.0009	0.0019	0	0.0086	0.0124	0.0022	0.0007	0.0073285	1133	154602	rs61751465	0.0072	0.0072	0.0073	0.0071	0.0086	0.0071	0.0070	0.0084	0.0084	0.0011	0.0023	0.0016	2.519e-05	0.0085	0.0005	0.0086	0.0053	0.0006	0.0053	0.0053	0.0053	0.0053	0.0089	0.0050	0.0049	0.0084	0.0081	0.0012	0	0.0027	0.0012	0	0.0090	0	0.0089	0.0033	0.0002	0.216	0.19225	T	0.227	0.25362	T	0.849	0.46879	P	0.301	0.41090	B	0.000000	0.84330	D	0.048374	0.999906	0.50806	D	0.895	0.22405	L	1.28	0.35960	T	-1.42	0.34992	N	0.703	0.70702	-1.0847	0.06462	T	0.044	0.18948	T	10	0.010066628	0.00225	T	.	.	.	0.152	0.39956	0.565	0.68633	0.206203607746	0.20212	0.3784297622020523	0.37757	0.490538732655	0.47772	0.708342552185	0.68354	T	0.060154	0.31309	T	-0.463038	0.00941	T	-0.428503	0.30104	T	0.0413224758014232	0.03930	T	0.90081	0.65538	D	0.19082625	0.40684	0.13515812	0.32368	0.19082625	0.40684	0.13515812	0.32368	-2.885	0.08994	T	.	.	0.658	0.71253	P	.	.	1.331996	0.17371	13.12	0.98392281660459835	0.40978	0.87195	0.46661	D	AEFGBHCI	0.482426	0.52330	N	-0.486202491299006	0.22532	1.203798	-0.57401134933247	0.20172	1.085593	0.999999696149374	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.32	-4.52	0.03227	-0.354000	0.07731	-1.783000	0.04734	0.665000	0.62972	0.299000	0.25315	0.000000	0.08366	0.953000	0.50222	0.0:0.6094:0.0:0.3906	15.457	0.75050	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	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2513.33	39	chr9	129005527	.	T	G	2513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-2.078;SOR=0.707	GT:AD:DP:GQ:PL	0/1:103,93:196:99:2527,0,2711	18	0	1	0
chr9	130296737	130296737	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon7:c.G955A:p.G319S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	.	6.091e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs781843763	5.331e-05	2.704e-05	5.767e-05	4.995e-05	0.0004	3.344e-05	2.751e-05	7.123e-05	4.671e-05	0	0.0002	0	0	0	0.0004	5.03e-05	0	5.022e-05	5.259e-05	5.254e-05	5.14e-05	5.382e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	0	0	6.55e-05	0	0	0	0	0.0001	0	0	.	.	.	0.22	0.25907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.34120	-0.6403	0.63133	T	0.213	0.57414	T	5	0.1264599	0.24040	T	.	.	.	.	.	.	.	0.128392430309	0.12331	0.42678955901098964	0.42595	.	.	.	.	.	0.016384	0.13553	T	-0.311546	0.07613	T	-0.400577	0.33317	T	0.396111367810547	0.28795	T	0.720928	0.33404	T	0.029666709	0.02500	0.14760076	0.34923	0.029666709	0.02500	0.14760076	0.34922	-7.96	0.60797	D	.	.	0.129	0.27523	B	.	.	3.346080	0.46131	22.2	0.99791160863970807	0.87661	0.92971	0.57000	D	AEFDGBI	0.624039	0.60776	D	0.0302894449740704	0.43236	2.620545	0.0438029013671952	0.41773	2.515292	0.999997797218863	0.74766	0.516213	0.21343	1	0.59043	0.45803	0	0.651303	0.49530	0	0.542086	0.14980	0	.	.	4.53	2.65	0.30588	3.371000	0.52107	6.667000	0.56266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1851:0.0:0.8149:0.0	9.328	0.37163	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1802.33	35	chr9	130296737	.	G	A	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=815;ExcessHet=0;FS=0.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.7;SOR=0.606	GT:AD:DP:GQ:PL	0/1:100,73:173:99:1816,0,2277	18	0	1	0
chr9	130376613	130376613	C	G	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon52:c.C8016G:p.S2672R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.12427908	0.23603	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.3898281713666427	0.38897	.	.	.	.	.	0.011548	0.10288	T	0.0617583	0.59834	T	-0.149065	0.59327	T	.	.	.	0.534647	0.17878	T	0.53428125	0.69074	0.6376971	0.78842	0.53428125	0.69075	0.6376971	0.78843	-14.655	0.94991	D	.	.	0.737	0.74485	P	.	.	3.544209	0.49785	22.8	0.70580104569451951	0.09342	0.67314	0.33388	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.155707777741496	0.17513	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.803716	0.47616	5.33	5.33	0.75683	0.800000	0.26703	2.197000	0.31255	0.599000	0.40250	0.300000	0.25324	0.995000	0.32472	0.998000	0.85391	0.0:1.0:0.0:0.0	17.625	0.87993	446	0.79659	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	46	chr9	130376613	.	C	G	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.958;DP=1184;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.07;SOR=0.784	GT:AD:DP:GQ:PL	0/1:61,86:147:99:2233,0,1437	18	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q	Cortical malformations, occipital, Autosomal recessive	7	1498	15	2	0	19	0.00630182	.	.	.	192120	not_specified|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	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	0	0	0	1	0	0	0	0.003535	0.000000	0.004076	0.002959	0.000000	0.000000	0.003049	0.007576	0.02632	545.33	36	chr9	131072668	.	G	C	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=843;ExcessHet=0;FS=8.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-2.237;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,23:68:99:0|1:131072662_A_G:559,0,1129:131072662	18	0	1	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K	Cortical malformations, occipital, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	192121	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	423.33	36	chr9	131072797	.	G	A	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.622;DP=760;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-0.265;SOR=0.279	GT:AD:DP:GQ:PL	0/1:36,21:57:99:437,0,1049	18	0	1	0
chr9	131091782	131091782	C	T	exonic	LAMC3	.	stopgain	LAMC3:NM_006059:exon28:c.C4723T:p.Q1575X	Cortical malformations, occipital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105865	0.19639	N	0.389827	0.999994	0.18878	N	.	.	.	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480892	0.93730	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.773493	0.98003	38	0.98084310543539444	0.38133	0.51431	0.28894	D	AEFDBCI	0.261822	0.37970	N	0.472444503640586	0.65487	4.828714	0.233389192497468	0.51710	3.351174	0.999985372831233	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.86	2.94	0.33188	1.005000	0.29436	2.839000	0.35068	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3675:0.6325:0.0:0.0	9.999	0.41092	364	0.84707	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1228.33	34	chr9	131091782	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=756;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.814;SOR=0.821	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1242,0,1157	18	0	1	0
chr9	133256235	133256235	T	-	exonic	ABO	.	unknown	UNKNOWN	.	424	1075	23	0	0	23	0.0105844	.	.	.	2738108	.	.	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	.	.	0.0022	0.00319489	0.0036	0.0005	0.0008	0	0.0005	0.0024	0.0035	0.0144	0.0006147	16	26028	rs563704490	0.0033	0.0033	0.0029	0.0037	0.0146	0.0033	0.0032	0.0140	0.0137	0.0002	0.0009	0	0	0.0003	0.0062	0.0030	0.0037	0.0146	0.0019	0.0019	0.0019	0.0020	0.0128	0.0017	0.0017	0.0103	0.0094	0.0005	0	0.0008	0	0.0002	0.0002	0.0068	0.0028	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2729.29	38	chr9	133256234	.	GT	G	2729.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=1423;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.402;SOR=0.522	GT:AD:DP:GQ:PL	0/1:88,83:171:99:2743,0,2908	18	0	1	0
chr9	133555815	133555815	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon11:c.G1534A:p.G512R,ADAMTSL2:NM_014694:exon11:c.G1534A:p.G512R	Geleophysic dysplasia 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0213328055307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.927e-05	4.925e-05	3.813e-05	6.052e-05	0.0007	3.993e-05	3.67e-05	0.0005	0.0005	0	0	0	0	0	0	8.093e-06	8.281e-05	0.0007	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.066	0.36113	T	0.35	0.26386	T	0.974	0.57829	D	0.302	0.41118	B	0.021115	0.26899	N	0.335186	0.921166	0.36682	D	2.175	0.60977	M	0.09	0.61559	T	-0.95	0.29114	N	0.532	0.56058	-0.8753	0.50127	T	0.127	0.43277	T	10	0.2730617	0.44853	T	0.021333	0.44082	T	0.162	0.41843	0.472	0.54699	0.864028493511	0.86271	0.4274368802569719	0.42660	0.540269727538	0.51223	0.503591358662	0.39328	T	0.029999	0.21369	T	0.0701374	0.60867	D	-0.137029	0.60374	T	0.787404239177704	0.45520	D	0.749125	0.37025	T	0.1544964	0.34966	0.16703887	0.38558	0.1544964	0.34966	0.16703887	0.38557	-7.82	0.59837	D	.	.	0.246	0.48093	B	.;.;.	.;.;.	3.547430	0.49846	22.8	0.99681849564042158	0.79307	0.90071	0.50965	D	AEFDGBI	0.579759	0.58044	D	0.252443786008626	0.53758	3.543519	0.315028224910528	0.56421	3.805515	0.999394745013965	0.39470	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	4.988000	0.63592	8.257000	0.76870	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0807:0.0:0.9193:0.0	13.065	0.58439	796	0.45353	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1890.33	34	chr9	133555815	.	G	A	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=788;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.822;SOR=0.511	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1904,0,1789	18	0	1	0
chr9	136523809	136523809	T	C	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon3:c.A311G:p.N104S	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	138681	not_provided|Adams-Oliver_syndrome_5|Connective_tissue_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_valve_disease_1|NOTCH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0446776760751	0.0004	0.000199681	0.0009	0	0	0	0	0.0009	0	0.0029	0.0007633	118	154602	rs199654211	0.0007	0.0007	0.0006	0.0008	0.0032	0.0006	0.0006	0.0029	0.0028	8.964e-05	4.487e-05	0.0149	2.522e-05	1.927e-05	0.0016	0.0002	0.0015	0.0032	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	9.627e-05	0	0.0001	0.0150	0	0	0	0.0003	0.0009	0.0019	0.231	0.18246	T	0.426	0.13872	T	0.005	0.12996	B	0.012	0.16012	B	0.000034	0.55875	D	0.152375	0.99998	0.54805	D	0.82	0.20857	L	1.26	0.36330	T	-2.28	0.50830	N	0.369	0.41063	-1.0593	0.11931	T	0.094	0.35578	T	10	0.007729143	0.00175	T	0.044678	0.61607	D	0.124	0.34239	.	.	0.428935479497	0.42510	.	.	0.304690156816	0.32778	0.555113077164	0.46577	T	0.656565	0.89641	D	-0.563914	0.00240	T	-0.586478	0.13973	T	0.0161963127215673	0.00394	T	0.739226	0.35772	T	0.07380316	0.16517	0.08868967	0.20694	0.07380316	0.16517	0.08868967	0.20693	-5.197	0.38911	T	.	.	.	.	.	.	.	2.785930	0.36605	20.3	0.84092249092427873	0.15092	0.96159	0.67803	D	AEFDGBI	0.310088	0.41620	N	-0.430112924229125	0.24420	1.318389	-0.40820942552175	0.24755	1.357456	0.999999842382494	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.91	3.74	0.42108	3.279000	0.51374	4.840000	0.45276	0.661000	0.55757	0.993000	0.37899	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.1579:0.8421	10.919	0.46363	952	0.10565	EGF-like domain|EGF-like calcium-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	0	0	1	0	0.001520	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.011450	0.02632	1755.33	35	chr9	136523809	.	T	C	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=789;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.633;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,72:129:99:1|0:136523808_A_G:1769,0,2177:136523808	18	0	1	0
chr9	136855620	136855620	G	A	splicing	MAMDC4	NM_206920:exon12:c.1471+1G>A	.	.	.	409	1096	16	1	0	18	0.0081448	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0032	0	0.0032	0	0.0039	0.0013	0.0079	0.0097	0.0012807	198	154602	rs201767253	0.0013	0.0013	0.0011	0.0015	0.0097	0.0013	0.0013	0.0092	0.0089	0.0002	0.0009	3.964e-05	0	0.0008	0.0032	0.0009	0.0012	0.0097	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.195735	0.21422	T	-0.0473975	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.632080	0.92682	32	0.99225599677801968	0.56057	0.89614	0.50191	D	AEFBHCI	.	.	.	0.924474549469722	0.92907	11.70093	0.722570702545955	0.84095	8.196856	0.999942106450456	0.47345	0.092769	0.02424	0	0.130567	0.03505	0	0.068591	0.01938	0	0.083433	0.02327	0	0.963142	0.66986	4.76	4.76	0.60189	4.889000	0.62862	11.250000	0.90713	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.499	0.67289	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1174.33	39	chr9	136855620	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.403;DP=792;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-1;SOR=0.795	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1188,0,2002	18	0	1	0
chr9	136908115	136908115	G	A	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon5:c.G412A:p.A138T	.	416	1089	16	1	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0321934540326	0.0003	0.00159744	0.0018	9.798e-05	0.0012	0	0.0008	0.0007	0.0034	0.0086	0.0015588	241	154602	rs138185376	0.0013	0.0013	0.0011	0.0016	0.0096	0.0013	0.0013	0.0091	0.0089	0.0001	0.0009	3.827e-05	0	0.0008	0.0031	0.0009	0.0012	0.0096	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	0.071	0.35918	T	0.022	0.57587	D	0.223	0.30377	B	0.029	0.21540	B	0.000213	0.47681	D	0.185011	0.999961	0.18878	N	2.105	0.58435	M	1.74	0.30133	T	-1.38	0.34198	N	0.514	0.54496	-1.0449	0.15854	T	0.065	0.26983	T	10	0.0094591975	0.00213	T	0.032193	0.54088	D	0.072	0.21020	.	.	0.380246515176	0.37641	0.5940008471389561	0.59330	0.310249593275	0.33346	0.52821803093	0.42783	T	0.138257	0.47164	T	-0.454406	0.01064	T	-0.418819	0.31211	T	0.0493231351465872	0.05381	T	0.79532	0.43818	T	0.045307472	0.07395	0.06158536	0.11916	0.045307472	0.07395	0.06158536	0.11916	-7.646	0.58631	D	.	.	0.090	0.12512	B	.;.;.	.;.;.	2.775853	0.36451	20.2	0.99011657794251684	0.50377	0.71186	0.34905	D	AEFDGBCI	0.128994	0.24699	N	-0.287756098886917	0.29621	1.644219	-0.283921472763495	0.28627	1.597637	0.99982034078673	0.43622	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.16	4.16	0.48138	3.210000	0.50832	5.405000	0.48522	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.080000	0.17246	0.0:0.0:0.809:0.191	10.664	0.44913	807	0.43470	Zinc finger, TRAF-type;Zinc finger, TRAF-type;Zinc finger, TRAF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1684.33	34	chr9	136908115	.	G	A	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.936;DP=796;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.305;SOR=0.803	GT:AD:DP:GQ:PL	0/1:75,75:150:99:1698,0,1594	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:73,53:126:99:596,0,1217	2	0	17	0
chr10	15071877	15071877	G	C	exonic	OLAH	.	nonsynonymous SNV	OLAH:NM_001039702:exon7:c.G655C:p.A219P,OLAH:NM_018324:exon8:c.G814C:p.A272P	.	440	1057	24	1	0	26	0.0121495	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0063	0.00439297	0.0063	0.0010	0.0056	0	0.0008	0.0096	0.0099	0.0019	0.0061577	952	154602	rs141112464	0.0063	0.0063	0.0061	0.0064	0.0212	0.0062	0.0061	0.0182	0.0170	0.0015	0.0076	0.0210	0	0.0010	0.0212	0.0067	0.0077	0.0021	0.0060	0.0060	0.0061	0.0058	0.0111	0.0056	0.0055	0.0098	0.0092	0.0013	0.0208	0.0111	0.0190	0	9.422e-05	0.0340	0.0081	0.0113	0.0029	0.012	0.54683	D	0.017	0.60337	D	0.995	0.73220	D	0.929	0.70672	D	0.008927	0.30598	N	0.363254	0.999996	0.58761	D	3.31	0.90591	M	.	.	.	-3.4	0.67014	D	0.248	0.28498	-0.1361	0.79259	T	0.374	0.73265	T	9	0.015485346	0.00325	T	0.014474	0.34608	T	0.263	0.57612	.	.	0.112648838833	0.10856	0.6394832000678196	0.63883	0.047663189146	0.05203	0.328335881233	0.14683	T	0.08477	0.37353	T	-0.258417	0.13086	T	-0.13786	0.60303	T	0.0219837686994808	0.00907	T	0.449655	0.12671	T	0.8517653	0.87467	0.7689394	0.86355	0.8517653	0.87468	0.7689394	0.86356	-4.864	0.42036	T	.	.	0.318	0.63900	B	.;.	.;.	5.891225	0.93966	33	0.99790793454404803	0.87661	0.97458	0.74879	D	AEFBI	0.786843	0.71680	D	0.618762159074657	0.74362	6.119819	0.537302431636275	0.70519	5.517139	0.746926572213367	0.23299	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	4.79	4.79	0.60909	4.601000	0.60798	9.293000	0.79808	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	17.363	0.87246	889	0.27310	Thioesterase;.	.	.	.	.	.	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	0.025176	0.025253	0.027174	0.014620	0.000000	0.025862	0.036585	0.018939	0.05263	3692.83	135	chr10	15071877	.	G	C	3692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.053;DP=900;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.484;SOR=0.789	GT:AD:DP:GQ:PL	0/1:59,80:139:99:2041,0,1486	17	0	2	0
chr10	20819498	20819498	T	C	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon20:c.A1981G:p.N661D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00538809721162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.214	0.26386	T	0.074	0.24142	B	0.049	0.25116	B	0.213659	0.03404	N	1.504400	1	0.08975	N	0.345	0.11182	N	0.89	0.45636	T	-1.26	0.31778	N	0.215	0.24010	-1.0275	0.21266	T	0.051	0.21728	T	10	0.13338965	0.25387	T	0.005388	0.13832	T	0.024	0.04979	0.473	0.54859	0.316494231283	0.31262	0.1071142733935379	0.10641	0.0175472640881	0.01711	0.292055487633	0.09222	T	0.005182	0.04625	T	-0.373239	0.03433	T	-0.773909	0.02641	T	0.0862991511821747	0.10773	T	0.19608	0.02165	T	0.053197823	0.10031	0.059449546	0.11160	0.053197823	0.10031	0.059449546	0.11160	-5.551	0.42342	T	.	.	0.126	0.26576	B	.	.	1.636482	0.20887	14.96	0.87897320532887846	0.17563	0.01797	0.05612	N	AEFBI	0.061495	0.11761	N	-1.30798875225151	0.03583	0.1603103	-1.32276558390817	0.04137	0.1945124	0.00624095734424228	0.11164	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.03	-6.45	0.01743	-0.501000	0.06479	-0.537000	0.08604	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.437000	0.27605	0.1574:0.0:0.2676:0.575	7.484	0.26592	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	825.33	40	chr10	20819498	.	T	C	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=728;ExcessHet=0;FS=1.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.79;SOR=0.514	GT:AD:DP:GQ:PL	0/1:24,34:58:99:839,0,504	18	0	1	0
chr10	20823216	20823216	T	G	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon19:c.A1954C:p.I652L	.	455	1063	3	1	0	5	0.00234632	.	.	.	174905	NEBL-related_disorder|not_provided|Primary_dilated_cardiomyopathy|not_specified	.|MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0169250500454	7.7e-05	.	0.0005	0	0.0006	0	0	0.0002	0.0022	0.0018	0.0003493	54	154602	rs200756166	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0.0003	0.0014	0	0	0.0039	3.985e-05	0.0003	0.0021	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.697e-05	0.0014	0.0011	0	0	6.535e-05	0.0003	0	0	0.0136	4.411e-05	0	0.0025	0.101	0.30375	T	0.446	0.13103	T	0.002	0.09854	B	0.006	0.12133	B	0.000032	0.55875	N	0.116312	0.966271	0.81001	D	2.56	0.74772	M	0.98	0.42122	T	-1.18	0.30140	N	0.191	0.20925	-1.0407	0.17101	T	0.079	0.31314	T	10	0.018383563	0.00400	T	0.016925	0.38413	T	0.102	0.29158	.	.	0.499535901811	0.49588	0.22024490517857823	0.21940	0.0161862307894	0.01549	0.377777516842	0.21940	T	0.004348	0.03758	T	-0.570255	0.00221	T	-0.598075	0.12973	T	0.0288108070100475	0.01809	T	0.579642	0.20943	T	0.100473106	0.23725	0.09302109	0.21952	0.100473106	0.23725	0.09302109	0.21951	-4.967	0.36479	T	.	.	0.130	0.28027	B	.	.	1.504803	0.19339	14.21	0.96914440679170255	0.31589	0.82810	0.41988	D	AEFI	0.407165	0.47936	N	-0.481248308266023	0.22696	1.213698	-0.384897882365928	0.25447	1.399455	6.78200649371019E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.42	-0.101	0.12955	0.310000	0.19112	0.064000	0.14171	0.665000	0.62972	0.994000	0.38300	0.969000	0.29651	0.995000	0.73285	0.0:0.1506:0.2592:0.5903	5.798	0.17659	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	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	0.005056	0.000000	0.001362	0.014620	0.000000	0.025862	0.000000	0.000000	0.02632	483.33	34	chr10	20823216	.	T	G	483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.301;SOR=0.699	GT:AD:DP:GQ:PL	0/1:25,23:48:99:497,0,595	18	0	1	0
chr10	37201280	37201280	G	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon31:c.G2656A:p.A886T	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000761240435328	.	.	5.817e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs772247695	2.495e-05	2.805e-05	2.069e-05	2.925e-05	0.0004	1.826e-05	1.621e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.36e-05	0.0004	3.95e-05	3.942e-05	1.287e-05	6.739e-05	0.0012	1.718e-05	1.131e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.256	0.16793	T	1.0	0.44702	T	0.98	0.59353	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.32	0.06214	T	-0.34	0.12661	N	0.075	0.14054	-0.9915	0.32218	T	0.020	0.08453	T	9	0.047648758	0.04111	T	7.61E-4	0.00549	T	0.151	0.39764	0.051	0.00104	0.283761946502	0.27984	7.12540865200494E-4	0.00065	0.0113215282385	0.01058	0.713493347168	0.69099	T	0.001251	0.05676	T	-0.532572	0.00371	T	-0.698232	0.05923	T	0.112278394401073	0.13659	T	0.510949	0.16331	T	0.017714208	0.00296	0.05083028	0.08056	0.017714208	0.00296	0.05083028	0.08056	-5.974	0.46062	T	.	.	0.112	0.22318	B	.;.;.;.	.;.;.;.	0.469406	0.08392	5.144	0.87816430024178438	0.17503	0.00577	0.02607	N	AEFI	0.026171	0.01919	N	-0.802826029595527	0.13237	0.6507267	-1.03915168427223	0.08934	0.4417931	9.06437838618504E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.436	0.15762	-0.187000	0.09652	-2.348000	0.03868	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2518:0.0:0.7482:0.0	3.751	0.08093	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	701.33	33	chr10	37201280	.	G	A	701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.722;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.35;SOR=0.763	GT:AD:DP:GQ:PL	0/1:37,31:68:99:715,0,1004	18	0	1	0
chr10	46550408	46550408	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385276:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385282:exon3:c.G329A:p.R110Q,GPRIN2:NM_014696:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385277:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385278:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385279:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385280:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385281:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385283:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385287:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385289:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385300:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385291:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385293:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385294:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385295:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385296:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385301:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385297:exon6:c.G401A:p.R134Q,GPRIN2:NM_001385298:exon6:c.G401A:p.R134Q,GPRIN2:NM_001385299:exon6:c.G401A:p.R134Q	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00412282548505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140015219	0.0051	0.0078	0.0052	0.0051	0.0104	0.0051	0.0050	0.0082	0.0075	0.0009	0.0019	0.0002	2.52e-05	0.0088	0.0104	0.0058	0.0052	0.0013	0.0046	0.0060	0.0047	0.0045	0.0066	0.0043	0.0042	0.0061	0.0059	0.0013	0.0011	0.0049	0.0003	0.0002	0.0101	0.0034	0.0066	0.0047	0.0010	0.244	0.17468	T	0.561	0.09083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-0.04	0.07590	N	0.14	0.13911	.	.	.	.	.	.	.	0.009417057	0.00213	T	.	.	.	.	.	.	.	.	.	0.17394575088259248	0.17314	.	.	.	.	.	0.002431	0.01826	T	.	.	.	.	.	.	.	.	.	0.60234	0.22547	T	.	.	.	.	.	.	.	.	-3.686	0.19112	T	.	.	0.079	0.07177	B	.;.	.;.	0.909202	0.12836	9.349	.	.	.	.	.	.	0.056669	0.10495	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.083000	0.11250	-5.714000	0.01621	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	875.33	138	chr10	46550408	.	C	T	875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=2271;ExcessHet=0;FS=4.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.59;SOR=0.374	GT:AD:DP:GQ:PL	0/1:80,37:117:99:889,0,2163	18	0	1	0
chr10	47350217	47350217	C	A	exonic	RBP3	.	nonsynonymous SNV	RBP3:NM_002900:exon1:c.C1733A:p.T578K	.	0	1517	5	0	0	5	0.00164528	.	.	.	836886	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.0129395884685	.	.	1.708e-05	0	0	0	0	1.567e-05	0	6.097e-05	1.94e-05	3	154602	rs782234227	0.0001	0.0001	8.472e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	2.987e-05	0.0008	0	0	0	0.0003	2.338e-05	8.284e-05	0.0014	9.196e-05	9.193e-05	5.138e-05	0.0001	0.0010	5.526e-05	4.363e-05	0.0004	0.0003	9.646e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0010	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.06	0.63568	T	.	.	.	0.625	0.63968	.	.	.	.	.	.	.	0.60953295	0.67365	D	.	.	.	.	.	.	.	.	.	0.9338702393430578	0.93366	.	.	.	.	.	0.131595	0.46118	T	.	.	.	.	.	.	.	.	.	0.852415	0.53747	D	.	.	.	.	.	.	.	.	-4.34	0.28734	T	0.3595893989403687	0.45614	0.257	0.49167	B	.	.	2.538149	0.32831	19.16	.	.	.	.	.	.	0.654190	0.62696	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173000	0.77170	1.822000	0.29048	0.524000	0.24156	0.972000	0.34453	0.390000	0.24659	0.412000	0.27050	.	.	.	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	2310.33	45	chr10	47350217	.	C	A	2310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=868;ExcessHet=0;FS=5.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.381;SOR=1.08	GT:AD:DP:GQ:PL	0/1:107,80:187:99:2324,0,2680	18	0	1	0
chr10	48232155	48232155	G	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon8:c.C1056A:p.N352K,FRMPD2:NM_001018071:exon10:c.C1128A:p.N376K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0535546393681	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766186924	2.326e-05	2.326e-05	1.225e-05	3.438e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.799e-06	3.311e-05	0.0003	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.123	0.27544	T	0.086	0.40909	T	0.006	0.43659	B	0.028	0.41250	B	.	.	.	.	0.999956	0.19072	N	1.825	0.47900	L	-1.04	0.76561	T	-3.44	0.67477	D	0.271	0.34659	-0.7783	0.56398	T	0.295	0.66659	T	9	0.22756046	0.39639	T	0.053555	0.65514	D	0.223	0.52023	0.591	0.71999	0.288352970974	0.28455	0.0975025320112516	0.09681	0.0340853469794	0.03576	0.345347911119	0.17235	T	0.112317	0.80484	T	-0.349385	0.04766	T	-0.429126	0.30035	T	0.184990313763204	0.19544	T	0.50295	0.15803	T	0.18929715	0.40465	0.19192594	0.42679	0.18929715	0.40465	0.19192594	0.42678	-8.471	0.64237	D	.	.	0.196	0.41798	B	.;.;.	.;.;.	1.768190	0.22489	15.64	0.67997628767469875	0.08523	0.43270	0.27061	N	AEFDGBCI	0.090470	0.18332	N	-0.976754882475215	0.09101	0.4294056	-1.0325444995663	0.09074	0.4494704	0.999940780454662	0.47345	0.608966	0.35542	0	0.681609	0.65952	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.44	-0.747	0.10532	1.184000	0.31663	0.351000	0.17477	-0.774000	0.03397	1.000000	0.71638	0.012000	0.20211	0.352000	0.25704	0.3571:0.1128:0.4168:0.1133	2.672	0.04757	976	0.04745	FERM, N-terminal|Band 4.1 domain|FERM domain|Band 4.1 domain;FERM, N-terminal|Band 4.1 domain|FERM domain|Band 4.1 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	1480.33	33	chr10	48232155	.	G	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.29;DP=758;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.177;SOR=0.81	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1494,0,1986	18	0	1	0
chr10	48913750	48913750	C	T	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.G406A:p.V136M,LRRC18:NM_001378102:exon3:c.G406A:p.V136M	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00817771097887	0.0002	0.000199681	0.0005	0.0002	0.0034	0	0	0.0001	0.0033	0.0002	0.0003946	61	154602	rs138127999	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0015	0.0014	5.975e-05	0.0018	3.827e-05	5.039e-05	1.872e-05	0.0009	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0008	0	0	0	0	0.0002	0	0.0008	0.036	0.43393	D	0.026	0.55759	D	0.987	0.61912	D	0.502	0.47702	P	0.000086	0.51296	D	0.134780	0.93278	0.81001	D	2.585	0.75554	M	2.3	0.16953	T	-0.4	0.13805	N	0.306	0.34552	-1.0841	0.06572	T	0.052	0.22076	T	9	0.026784837	0.00837	T	0.008178	0.21674	T	0.131	0.35738	.	.	0.538097488659	0.53462	0.4146914298142841	0.41385	0.0178036153524	0.01746	0.584950566292	0.50783	T	0.01047	0.09450	T	-0.506799	0.00523	T	-0.507543	0.21568	T	0.0654367071954533	0.07995	T	0.892711	0.62952	D	0.049725726	0.08872	0.06774944	0.14058	0.049725726	0.08871	0.06774944	0.14058	-6.659	0.51501	T	.	.	0.386	0.58768	A	.	.	4.189493	0.63134	24.5	0.9986537320519242	0.94366	0.79305	0.39272	D	AEFBI	0.180961	0.30828	N	0.519797032734094	0.68262	5.192933	0.537709637221554	0.70548	5.521207	0.00729375901307557	0.11431	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.98	0.65679	2.698000	0.46736	4.857000	0.45432	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.452000	0.27939	0.0:0.437:0.4325:0.1306	5.101	0.14094	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3669.33	95	chr10	48913750	.	C	T	3669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=2702;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.109;SOR=0.647	GT:AD:DP:GQ:PL	0/1:124,135:259:99:3683,0,3074	18	0	1	0
chr10	49610979	49610979	C	T	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.C239T:p.P80L	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1368593	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00367511564543	.	.	1.799e-05	0	9.266e-05	0	0	1.644e-05	0	0	1.29e-05	2	154602	rs778513207	9.593e-06	9.577e-06	6.815e-06	1.24e-05	0.0002	5.57e-06	4.36e-06	0.0001	9.226e-05	0	0.0002	0	0	0	0	2.701e-06	1.661e-05	0	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.309	0.14064	T	0.262	0.22895	T	0.005	0.12996	B	0.016	0.17743	B	0.198671	0.16657	N	0.531795	0.999999	0.08975	N	0.35	0.11930	N	3.55	0.04746	T	0.39	0.03521	N	0.06	0.03175	-0.9188	0.45716	T	0.008	0.02968	T	10	0.058499962	0.06888	T	0.003675	0.08464	T	0.041	0.10877	0.5	0.59147	0.418467456957	0.41465	0.36841753159550406	0.36755	.	.	0.336299180984	0.15884	T	0.139449	0.47348	T	-0.449224	0.01141	T	-0.685412	0.06659	T	0.0377563471580952	0.03289	T	0.589541	0.21661	T	0.07309346	0.16310	0.101580195	0.24322	0.07309346	0.16309	0.101580195	0.24321	-4.61	0.32297	T	.	.	0.105	0.19235	B	.	.	2.053624	0.26105	17.00	0.9691175305916826	0.31581	0.51782	0.28976	D	AEFDBHCI	0.178269	0.30553	N	-0.681405798408939	0.16552	0.8443112	-0.556257910787734	0.20639	1.112925	0.922744647988213	0.26719	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.99	3.08	0.34576	0.406000	0.20754	2.429000	0.32722	0.596000	0.33519	0.000000	0.06391	0.989000	0.31174	0.947000	0.49155	0.4611:0.5389:0.0:0.0	9.933	0.40703	607	0.67291	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2295.33	34	chr10	49610979	.	C	T	2295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.08;DP=943;ExcessHet=0;FS=1.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.523;SOR=0.81	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2309,0,2779	18	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	180.83	217	chr10	49933321	.	C	T	180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.89;DP=1610;ExcessHet=0.119;FS=52.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.83;MQRankSum=-8.132;QD=0.41;ReadPosRankSum=-0.383;SOR=6.923	GT:AD:DP:GQ:PL	0/1:200,25:225:99:142,0,5224	17	0	2	0
chr10	68885225	68885225	G	C	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1429C:p.G477R,STOX1:NM_152709:exon3:c.G1429C:p.G477R	Preeclampsia/eclampsia 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0047	0.00459265	0.0014	0.0171	0.0006	0	0	0	0	0	0.0013454	208	154602	rs115442093	0.0004	0.0004	0.0005	0.0004	0.0170	0.0004	0.0004	0.0158	0.0154	0.0170	0.0007	0	0	0	0	8.993e-06	0.0007	1.159e-05	0.0045	0.0045	0.0047	0.0043	0.0158	0.0042	0.0041	0.0148	0.0144	0.0158	0	0.0013	0	0	0	0	4.41e-05	0.0019	0	0.266	0.16251	T	0.271	0.22291	T	0.933	0.52105	P	0.486	0.47228	P	0.656369	0.10467	N	0.836339	1	0.08975	N	2.045	0.56016	M	-0.78	0.73631	T	-1.47	0.35991	N	0.245	0.27673	-0.8464	0.52215	T	0.208	0.56690	T	10	0.008245975	0.00187	T	.	.	.	0.117	0.32689	.	.	0.341696514166	0.33777	0.0465858396914429	0.04602	0.185540929456	0.20862	0.228209704161	0.01838	T	0.012907	0.11259	T	-0.522729	0.00424	T	-0.509361	0.21381	T	0.0143908323249336	0.00289	T	0.572743	0.20478	T	0.056477673	0.11115	0.061606333	0.11923	0.046726637	0.07867	0.063583314	0.12616	-3.694	0.19230	T	0.48334035425377	0.56159	0.108	0.26545	B	.;.;.	.;.;.	0.558253	0.09270	6.050	0.66548956679182314	0.08091	0.30108	0.23997	N	AEFBI	0.228385	0.35206	N	-0.524451156520326	0.21291	1.128861	-0.65713268089645	0.18037	0.9617676	1.13474147862495E-4	0.05269	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.88	1.68	0.23219	0.227000	0.17575	1.623000	0.27698	-0.202000	0.08738	0.000000	0.06391	0.003000	0.18671	0.016000	0.10718	0.1317:0.1165:0.3942:0.3575	2.808	0.05100	677	0.60274	.;.;.	.	.	.	.	.	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	2170.33	33	chr10	68885225	.	G	C	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.459;DP=810;ExcessHet=0;FS=5.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.495;SOR=0.635	GT:AD:DP:GQ:PL	0/1:95,87:182:99:2184,0,2495	18	0	1	0
chr10	69097217	69097217	G	C	exonic	SRGN	.	nonsynonymous SNV	SRGN:NM_002727:exon2:c.G213C:p.R71S,SRGN:NM_001321053:exon3:c.G213C:p.R71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00979436866021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.073	0.43159	T	0.288	0.32258	B	0.15	0.34161	B	0.124973	0.18860	N	0.470905	1	0.08975	N	1.7	0.43825	L	0.83	0.47815	T	-1.66	0.39692	N	0.122	0.11340	-0.9709	0.37009	T	0.122	0.42272	T	10	0.20056403	0.36107	T	0.009794	0.25540	T	0.085	0.24743	0.554	0.67133	0.629112818682	0.62608	0.3520288713593413	0.35116	0.771943149709	0.64812	0.275393694639	0.06859	T	0.28784	0.66063	T	-0.12666	0.32037	T	-0.419715	0.31107	T	0.359974682331085	0.27408	T	0.381062	0.09207	T	0.11982679	0.28209	0.11203003	0.27028	0.11982679	0.28208	0.11203003	0.27028	-3.268	0.13328	T	.	.	0.211	0.43935	B	.	.	2.138468	0.27230	17.39	0.99544334587286643	0.70711	0.19216	0.20574	N	AEFBCI	0.630833	0.61203	D	-0.262280052007535	0.30616	1.708788	-0.248373288842873	0.29827	1.674314	0.999998364789359	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.26	3.32	0.37134	1.443000	0.34668	.	.	0.672000	0.70159	0.005000	0.17040	0.002000	0.18203	0.366000	0.26021	0.0926:0.0:0.7339:0.1735	7.103	0.24525	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	698.33	43	chr10	69097217	.	G	C	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=818;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.429;SOR=0.861	GT:AD:DP:GQ:PL	0/1:46,27:73:99:712,0,1205	18	0	1	0
chr10	73913679	73913679	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon6:c.C550T:p.R184W,PLAU:NM_001319191:exon6:c.C343T:p.R115W,PLAU:NM_002658:exon7:c.C601T:p.R201W	Quebec platelet disorder, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2424321	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.12778187791	0.0003	0.000399361	0.0003	0.0001	8.654e-05	0	0.0015	0.0003	0	0	0.0002587	40	154602	rs145070893	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	0.0002	0	0	0.0008	0.0005	0.0004	0.0003	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	7.232e-05	0	0.0005	0	0	0.0003	0	0.0004	0	0	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.383797	0.13353	N	0.702318	0.999997	0.08975	N	.	.	.	-2.47	0.88997	D	-4.09	0.74821	D	0.379	0.45047	0.050	0.83233	D	0.773	0.92273	D	10	0.091998935	0.16162	T	0.127782	0.80964	D	0.416	0.72631	.	.	0.946118887695	0.94555	0.6008504495127298	0.60016	0.88832483816	0.70104	0.389131307602	0.23548	T	0.528404	0.83635	D	-0.15412	0.27668	T	-0.148641	0.59364	T	0.418972700834274	0.29652	T	0.886911	0.61435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30660	B	.;.	.;.	3.427707	0.47621	22.5	0.99901925544609493	0.97350	0.06464	0.12472	N	AEFDBCI	0.159678	0.28551	N	0.0918637594022518	0.46083	2.854311	-0.0409797258062588	0.37884	2.224195	0.999969374771407	0.48965	0.67177	0.52595	0	0.610034	0.51514	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.25	1.98	0.25351	-0.006000	0.12769	1.088000	0.23954	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.967000	0.53440	0.5285:0.4715:0.0:0.0	10.550	0.44272	394	0.83065	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	.	.	.	.	.	.	.	.	0.02632	2904.33	66	chr10	73913679	.	C	T	2904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=1532;ExcessHet=0;FS=3.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.1;SOR=0.544	GT:AD:DP:GQ:PL	0/1:150,127:277:99:2918,0,3648	18	0	1	0
chr10	79711841	79711841	C	G	exonic	NUTM2B	.	nonsynonymous SNV	NUTM2B:NM_001278495:exon7:c.C1993G:p.Q665E	.	421	1077	20	4	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00107540885294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317635955	0.0004	0.0024	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	0.0008	0.0003	0.0002	0.0010	0.0039	0	8.914e-05	0.0004	0.0014	0.0003	0.0034	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	7.079e-05	0	0.0005	0.0004	0	0.0002	0	0.0005	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	1	0.08975	N	.	.	.	2.78	0.11298	T	-0.56	0.17003	N	0.052	0.02366	-0.9814	0.34678	T	0.011	0.03996	T	7	0.04182014	0.02872	T	0.001075	0.01239	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.04515098052657296	0.04459	.	.	.	.	.	0.002869	0.02268	T	-0.388094	0.02767	T	-0.795246	0.02024	T	0.0222420028078043	0.00936	T	0.432757	0.11777	T	0.04766708	0.08184	0.03812953	0.03616	0.04766708	0.08184	0.03812953	0.03616	-2.745	0.07689	T	.	.	0.073	0.04599	B	.	.	-0.289777	0.02662	0.341	0.10184918605024793	0.00122	0.01337	0.04602	N	AEFI	0.035045	0.04446	N	-0.875582201295554	0.11426	0.5512962	-1.07425620614281	0.08209	0.4026423	1.15030611857549E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	0.451	0.15841	-0.221000	0.09208	-1.989000	0.04383	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7692:0.0:0.2308	3.959	0.08896	814	0.42100	Nuclear Testis  protein, 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	.	.	.	.	.	.	.	.	0.02632	173.33	121	chr10	79711841	.	C	G	173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=873;ExcessHet=0;FS=5.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.15;MQRankSum=0.227;QD=7.22;ReadPosRankSum=0.215;SOR=2.564	GT:AD:DP:GQ:PL	0/1:16,8:24:99:187,0,405	18	0	1	0
chr10	79842065	79842065	G	A	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon4:c.G325A:p.G109R	.	55	170	1	0	0	1	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.010373805549	.	0.000998403	0.0010	0.0035	0.0006	0	0	0.0007	0	0	0.0001921	5	26028	rs537665753	0.0003	0.0003	0.0004	0.0003	0.0032	0.0003	0.0003	0.0026	0.0025	0.0032	0.0004	0.0042	0	0	0.0003	7.749e-05	0.0008	0.0001	0.0015	0.0016	0.0014	0.0015	0.0036	0.0013	0.0012	0.0031	0.0029	0.0036	0	0.0009	0.0026	0	0	0.0042	0.0001	0.0026	0	0.023	0.48186	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.21	0.10308	N	0.171	0.18239	-1.0159	0.25045	T	0.037	0.16073	T	5	0.007816613	0.00177	T	0.010374	0.26828	T	0.040	0.10527	0.545	0.65873	0.374255764437	0.37033	0.021854920884993877	0.02137	.	.	.	.	.	0.005952	0.05392	T	-0.623305	0.00105	T	-0.669584	0.07635	T	0.0213710096623668	0.00840	T	0.777822	0.41150	T	0.089068204	0.20798	0.15346055	0.36059	0.089068204	0.20798	0.15346055	0.36059	-3.992	0.23683	T	.	.	0.195	0.41633	B	.;.	.;.	4.513733	0.70713	25.6	0.9554492124112266	0.27197	0.00192	0.01112	N	AEFI	0.031245	0.03299	N	-0.666279484979306	0.16987	0.8703425	-0.89893803151887	0.12119	0.621548	1.55792357979817E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.709	0.709	0.17307	0.116000	0.15393	1.798000	0.28858	0.339000	0.19733	0.007000	0.17678	0.997000	0.33255	0.005000	0.06747	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03571	580.58	35	chr10	79842065	.	G	A	580.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.601;DP=718;ExcessHet=0;FS=2.844;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=33.88;MQRankSum=1.32;QD=2.46;ReadPosRankSum=-0.643;SOR=0.934	GT:AD:DP:GQ:PL	0/1:188,48:236:99:592,0,4362	13	0	1	5
chr10	87176038	87176038	G	A	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377162:exon5:c.G2005A:p.A669T,SHLD2:NM_001330112:exon7:c.G2113A:p.A705T,SHLD2:NM_001377161:exon7:c.G2113A:p.A705T,SHLD2:NM_001377163:exon7:c.G2113A:p.A705T,SHLD2:NM_001377166:exon7:c.G1066A:p.A356T,SHLD2:NM_001377169:exon7:c.G1066A:p.A356T,SHLD2:NM_001377170:exon7:c.G709A:p.A237T,SHLD2:NM_001377167:exon8:c.G1066A:p.A356T,SHLD2:NM_001377168:exon8:c.G1066A:p.A356T,SHLD2:NM_001377171:exon8:c.G1162A:p.A388T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.0061901	0.0015	0.0265	0	0	0	0	0	0	0.0003881	60	154602	rs193279383	0.0005	0.0005	0.0006	0.0004	0.0203	0.0005	0.0005	0.0190	0.0185	0.0203	0.0007	0	0	0	0	1.298e-05	0.0010	3.791e-05	0.0062	0.0062	0.0065	0.0059	0.0218	0.0059	0.0057	0.0206	0.0201	0.0218	0	0.0019	0	0	0	0	4.411e-05	0.0038	0	0.807	0.03060	T	1.0	0.01155	T	.	.	.	.	.	.	0.127002	0.02775	N	1.774190	1	0.08975	N	.	.	.	-0.0	0.62608	T	0.43	0.03297	N	0.055	0.02658	-1.0219	0.23096	T	0.018	0.07518	T	9	0.0034383237	0.00060	T	.	.	.	0.022	0.04323	.	.	0.241078983079	0.23725	0.19321126284434711	0.19239	.	.	.	.	.	.	.	.	-0.564016	0.00240	T	-0.564693	0.15938	T	0.00195258083271977	0.00020	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-3.419	0.15313	T	.	.	0.063	0.01512	B	.	.	-1.129498	0.00606	0.016	0.27090412515072054	0.01328	0.00492	0.02329	N	AEFI	0.025839	0.01838	N	-1.04283192472663	0.07729	0.3600254	-1.24260583001009	0.05241	0.2492717	9.99884321858291E-4	0.08103	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.4	-5.03	0.02751	-1.347000	0.02739	-0.110000	0.11840	-1.656000	0.00819	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3096:0.2705:0.4199:0.0	7.582	0.27137	924	0.18029	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1075.33	34	chr10	87176038	.	G	A	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.977;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.36;MQRankSum=-2.556;QD=11.32;ReadPosRankSum=-0.518;SOR=0.675	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1089,0,1380	18	0	1	0
chr10	88752562	88752562	G	A	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon10:c.G1006A:p.A336T,LIPK:NM_001378091:exon11:c.G907A:p.A303T	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00279553	0.0017	0	0	0	0	0	0	0.0065	0.0006598	102	154602	rs371740523	0.0004	0.0004	0.0002	0.0005	0.0061	0.0003	0.0003	0.0057	0.0055	0	0	0	0	0	0.0004	2.766e-06	0.0005	0.0061	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	6.551e-05	0	0	0	0	0	0	0.0070	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.966	0.71341	D	0.006505	0.31983	N	0.221859	1	0.08975	N	2.85	0.82803	M	-0.48	0.70249	T	-3.39	0.66896	D	0.547	0.57348	-0.2985	0.75026	T	0.540	0.83046	D	10	0.0125235915	0.00269	T	.	.	.	0.388	0.70440	0.541	0.65304	0.628968807243	0.62594	0.6247982095892505	0.62412	0.0315889079074	0.03269	0.491900503635	0.37702	T	0.027576	0.20164	T	-0.254717	0.13525	T	-0.136326	0.60436	T	0.171022136939565	0.18649	T	0.918808	0.70803	D	0.622129	0.73877	0.60921067	0.77272	0.622129	0.73879	0.60921067	0.77273	-9.433	0.70442	D	.	.	0.365	0.57504	A	.	.	4.727892	0.76118	26.5	0.99876011471436232	0.95328	0.84516	0.43598	D	AEFI	0.374687	0.45950	N	0.730077141216065	0.81604	7.561365	0.645394975341225	0.78268	6.842162	0.958141646936667	0.28345	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	4.71	0.59010	5.855000	0.69252	7.511000	0.59621	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.0:0.1491:0.8509:0.0	14.134	0.64809	824	0.40336	Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.011364	0.02632	1152.33	43	chr10	88752562	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=759;ExcessHet=0;FS=4.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.31;SOR=1.27	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1166,0,1270	18	0	1	0
chr10	88752692	88752692	A	T	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon10:c.A1136T:p.E379V,LIPK:NM_001378091:exon11:c.A1037T:p.E346V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0219310221457	.	.	0.0001	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs762923440	2.95e-05	3.283e-05	1.113e-05	4.825e-05	0.0005	2.209e-05	1.959e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.696e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.17	0.30436	T	0.001	0.07471	B	0.007	0.12992	B	0.649463	0.05915	N	1.187940	0.999999	0.08975	N	0.19	0.09125	N	0.08	0.61559	T	2.84	0.00165	N	0.187	0.20395	-1.0015	0.29488	T	0.098	0.36677	T	10	0.04684037	0.03926	T	0.021931	0.44763	T	0.065	0.18881	0.557	0.67547	0.551677396071	0.54825	0.47156892817257023	0.47075	0.00731947616063	0.00644	0.262005865574	0.05131	T	8.44E-4	0.00419	T	-0.376732	0.03266	T	-0.444775	0.28275	T	0.104754808781636	0.12871	T	0.777022	0.40965	T	0.0818497	0.18826	0.082224265	0.18749	0.0818497	0.18826	0.082224265	0.18749	-3.121	0.11539	T	.	.	0.125	0.26263	B	.	.	2.435055	0.31330	18.71	0.98176591105924516	0.38907	0.02886	0.07670	N	AEFI	0.027637	0.02294	N	-0.711961935859276	0.15684	0.7926301	-0.591436073477514	0.19714	1.059035	0.0273673869082719	0.13769	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	1.7	0.23359	2.290000	0.43193	4.153000	0.42161	0.756000	0.94297	0.034000	0.20669	0.117000	0.22861	0.933000	0.47100	0.411:0.0:0.0:0.589	9.300	0.36999	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	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1531.33	43	chr10	88752692	.	A	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=804;ExcessHet=0;FS=1.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.672;SOR=0.567	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1545,0,1957	18	0	1	0
chr10	89645128	89645128	C	T	exonic	PANK1	.	nonsynonymous SNV	PANK1:NM_148977:exon1:c.G175A:p.A59T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.680704873922	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773860515	1.034e-05	1.163e-05	1.165e-05	8.983e-06	4.01e-05	6e-06	4.69e-06	1.065e-05	4.95e-06	0	0	0	3.332e-05	0	0	9.406e-06	0	4.01e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.571590	0.11233	N	0.770862	1	0.08975	N	0.695	0.17993	N	-6.44	0.99694	D	0.01	0.06868	N	0.081	0.05670	1.017	0.97485	D	0.927	0.97587	D	10	0.13910598	0.26450	T	0.680705	0.97354	D	0.195	0.47612	0.156	0.05964	0.790246465493	0.78830	0.09890003035962258	0.09821	0.58118301482	0.53933	0.569698929787	0.48635	T	0.176962	0.52709	T	0.0258818	0.55172	T	-0.200599	0.54589	T	0.0577999465167522	0.06818	T	0.380262	0.09172	T	0.039747022	0.05547	0.07804007	0.17441	0.039747022	0.05546	0.07804007	0.17441	-5.007	0.36916	T	.	.	0.080	0.07841	B	.	.	0.870649	0.12432	8.969	0.98351339245465685	0.40547	0.20348	0.21008	N	ALL	0.048948	0.08407	N	-0.940663202961285	0.09903	0.4708345	-0.969949116418115	0.10464	0.5271746	0.999999995782365	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.36	1.27	0.20595	0.562000	0.23235	0.253000	0.16451	-0.196000	0.09079	0.001000	0.13787	0.000000	0.08366	0.309000	0.24713	0.0:0.5658:0.1962:0.238	3.944	0.08836	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	493.33	35	chr10	89645128	.	C	T	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.09;DP=640;ExcessHet=0;FS=8.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.601;SOR=0.089	GT:AD:DP:GQ:PL	0/1:13,18:31:99:507,0,414	18	0	1	0
chr10	91842349	91842349	C	T	exonic	TNKS2	.	nonsynonymous SNV	TNKS2:NM_025235:exon16:c.C2017T:p.R673C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.150919208533	.	.	5.769e-05	0	0	0.0001	0	1.499e-05	0	0.0003	5.17e-05	8	154602	rs771677211	5.541e-05	5.541e-05	2.723e-05	8.388e-05	0.0005	4.543e-05	4.155e-05	0.0004	0.0003	0	0	0	2.519e-05	1.872e-05	0.0002	3.058e-05	1.656e-05	0.0005	1.315e-05	1.314e-05	0	2.692e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000011	0.62929	D	0.000000	1	0.81001	D	2.015	0.55033	M	-0.39	0.69158	T	-6.76	0.92736	D	0.829	0.82458	-0.1332	0.79326	T	0.465	0.79317	T	10	0.79178536	0.78724	D	0.150919	0.83254	D	0.434	0.73951	0.456	0.52102	0.628054781301	0.62502	0.5759087512527854	0.57519	1.51252271535	0.87270	0.922147870064	0.98483	D	0.796221	0.94756	D	0.0656037	0.60309	T	0.178425	0.81906	D	0.707885324954987	0.41097	D	0.989968	0.96869	D	0.61002713	0.73229	0.4721736	0.69400	0.61002713	0.73230	0.4721736	0.69401	-11.486	0.82257	D	.	.	0.838	0.79117	P	.	.	5.643661	0.92759	33	0.99940287995366583	0.99767	0.94437	0.61163	D	AEFGBI	0.426536	0.49085	N	0.729932712988592	0.81597	7.559122	0.713507348590392	0.83404	8.01279	0.85932293064711	0.25195	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	2.095000	0.41354	4.901000	0.45859	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.143:0.857:0.0:0.0	14.942	0.70646	907	0.22727	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	37	chr10	91842349	.	C	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=696;ExcessHet=0;FS=5.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.162;SOR=0.273	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1099,0,718	18	0	1	0
chr10	94283842	94283842	G	T	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon20:c.G3924T:p.Q1308H,PLCE1:NM_001288989:exon21:c.G4800T:p.Q1600H,PLCE1:NM_016341:exon21:c.G4848T:p.Q1616H	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3880612	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0110707803239	.	.	5.815e-05	0	8.723e-05	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs763255266	1.301e-05	1.3e-05	9.542e-06	1.652e-05	0.0001	8.32e-06	6.71e-06	5.813e-05	3.957e-05	0	0.0001	0	0	0	0	1.081e-05	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.023	0.48186	D	0.028	0.54934	D	0.997	0.70673	D	0.928	0.66279	D	0.000010	0.62929	D	0.067052	0.875878	0.35653	D	1.59	0.40313	L	1.79	0.25509	T	-0.64	0.22944	N	0.175	0.32481	-0.9879	0.33126	T	0.079	0.31254	T	10	0.24567953	0.41820	T	0.011071	0.28311	T	0.084	0.24469	0.232	0.16005	0.635582896387	0.63258	0.47341112076583036	0.47260	1.28687267686	0.82678	0.566021561623	0.48116	T	0.329982	0.70022	T	-0.304391	0.08252	T	-0.419967	0.31080	T	0.362771570682526	0.27517	T	0.716728	0.32905	T	0.10954487	0.25898	0.10662662	0.25655	0.10954487	0.25897	0.10662662	0.25655	-3.782	0.20984	T	0.2096454499639708	0.28069	0.184	0.39832	B	.;.;.	.;.;.	3.307852	0.45438	22.1	0.99734314749460951	0.82975	0.97070	0.72515	D	AEFBI	0.643273	0.61994	D	0.361440180310299	0.59345	4.113274	0.386649485933451	0.60742	4.265177	0.433504056265604	0.20393	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.39	4.49	0.54177	2.493000	0.44979	5.288000	0.48200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1514:0.0:0.8486:0.0	10.428	0.43575	370	0.84343	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	804.33	34	chr10	94283842	.	G	T	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.292;DP=709;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.199;SOR=0.582	GT:AD:DP:GQ:PL	0/1:40,37:77:99:818,0,1023	18	0	1	0
chr10	94545923	94545923	T	C	exonic	HELLS	.	startloss	HELLS:NM_001289067:exon1:c.T2C:p.M1?,HELLS:NM_001289069:exon1:c.T2C:p.M1?,HELLS:NM_001289070:exon1:c.T2C:p.M1?,HELLS:NM_001289072:exon1:c.T2C:p.M1?,HELLS:NM_018063:exon1:c.T2C:p.M1?	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	420	1100	2	0	0	2	0.000908265	.	.	.	724119	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4	MedGen:C3661900|MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0053	0.0061901	0.0036	0.0262	0.0023	0	0	0.0006	0	0.0001	0.0012225	189	154602	rs113154675	0.0006	0.0006	0.0006	0.0006	0.0180	0.0006	0.0006	0.0168	0.0163	0.0180	0.0014	3.971e-05	0	0	0.0028	0.0001	0.0017	8.801e-05	0.0045	0.0045	0.0047	0.0043	0.0152	0.0042	0.0041	0.0142	0.0139	0.0152	0	0.0018	0	0	0	0.0068	0.0002	0.0033	0	0.0	0.91255	D	0.0	0.92824	D	0.717	0.54515	P	0.599	0.50715	P	0.000111	0.50451	D	0.136787	0.861152	0.36030	D	.	.	.	-2.37	0.88220	D	-0.79	0.40274	N	0.788	0.83066	0.345	0.88261	D	0.622	0.86701	D	9	0.013394326	0.00284	T	.	.	.	0.525	0.79886	.	.	0.816811053065	0.81508	0.43407118627794633	0.43324	.	.	.	.	.	0.02254	0.53761	T	-0.183843	0.23165	T	-0.02388	0.68774	D	0.183650183776254	0.19463	T	0.9	0.65058	D	0.91318613	0.92594	0.87540007	0.93241	0.9297382	0.94211	0.8823468	0.93726	-6.946	0.53639	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.725662	0.53263	23.3	0.96428384234445119	0.29785	0.39765	0.26286	N	AEFDGBHCI	0.029841	0.02891	N	-0.275734835621758	0.30088	1.674479	-0.262364706569046	0.29348	1.643549	0.999999999954311	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.41	3.28	0.36691	2.225000	0.42597	5.746000	0.49600	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.0:0.108:0.0:0.892	6.692	0.22370	680	0.59965	.;.;.;.	.	.	.	.	.	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	0.006431	0.022989	0.006944	0.000000	0.000000	0.000000	0.003311	0.003937	0.02632	811.33	40	chr10	94545923	.	T	C	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.404;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.31;SOR=0.603	GT:AD:DP:GQ:PL	0/1:29,38:67:99:825,0,705	18	0	1	0
chr10	94981224	94981224	C	T	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon7:c.C1003T:p.R335W	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	354244	not_provided|Lesinurad_response|Flurbiprofen_response|Piroxicam_response	MedGen:C3661900|MedGen:CN248784|MedGen:CN258139|MedGen:CN258188	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|drug_response	.	.	.	.	.	.	.	.	0.222	.	0.0077	0.0071885	0.0038	0.0214	0.0016	0.0001	0.0054	0.0022	0.0033	0.0019	0.0036934	571	154602	rs28371685	0.0032	0.0032	0.0032	0.0031	0.0195	0.0031	0.0031	0.0183	0.0178	0.0195	0.0020	0.0001	2.519e-05	0.0039	0.0035	0.0029	0.0032	0.0030	0.0070	0.0070	0.0072	0.0068	0.0174	0.0067	0.0065	0.0163	0.0159	0.0174	0	0.0043	0	0	0.0064	0.0068	0.0029	0.0043	0.0017	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.021241	0.26875	U	0.293574	0.999988	0.18198	N	4.77	0.99599	H	-0.59	0.71543	T	-7.2	0.94223	D	0.619	0.63459	-0.3835	0.72543	T	0.376	0.73401	T	10	0.008629888	0.00196	T	.	.	.	0.222	0.51872	.	.	0.875184994486	0.87396	0.13795004325895055	0.13719	0.0470208020425	0.05119	0.290101468563	0.08937	T	0.351203	0.71881	T	-0.340459	0.05356	T	-0.246886	0.50123	T	0.0901442514743598	0.11235	T	0.929907	0.74113	D	0.7352636	0.80022	0.79923123	0.88222	0.7352636	0.80023	0.79923123	0.88222	-9.011	0.67769	D	.	.	0.241	0.47492	B	.	.	3.166992	0.42937	21.6	0.99827883509086424	0.91026	0.31691	0.24401	N	AEFI	0.817627	0.73907	D	0.340550736962517	0.58242	3.995391	0.107802784130005	0.44945	2.76672	1.59947455645949E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.78	2.85	0.32333	1.186000	0.31687	-13.764000	0.00440	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.364000	0.25977	0.191:0.809:0.0:0.0	10.729	0.45281	787	0.46738	.	.	.	.	.	.	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	0	0	1	0	0.010042	0.015152	0.009511	0.012295	0.000000	0.000000	0.009146	0.007576	0.02632	3682.33	34	chr10	94981224	.	C	T	3682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=951;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.299;SOR=0.619	GT:AD:DP:GQ:PL	0/1:176,138:314:99:3696,0,4378	18	0	1	0
chr10	94988879	94988879	G	A	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon9:c.G1324A:p.G442S	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00972191068242	7.7e-05	0.000399361	0.0004	0	0	0	0.0002	0.0002	0	0.0021	0.0003622	56	154602	rs368545396	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0.0001	4.474e-05	0	7.557e-05	7.488e-05	0	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.814e-05	0	0.0001	0	0	0.0002	0	0.0002	0	0.0021	0.017	0.51248	D	0.006	0.70582	D	0.003	0.11197	B	0.001	0.04355	B	0.000002	0.62929	U	0.000000	0.999176	0.21543	N	-0.55	0.02420	N	-0.26	0.67187	T	0.91	0.01595	N	0.131	0.12627	-0.9559	0.39934	T	0.110	0.39723	T	10	0.019283712	0.00429	T	0.009722	0.25381	T	0.107	0.30369	.	.	0.656001370146	0.65313	0.23714022931471504	0.23629	0.00887738924054	0.00804	0.327699810266	0.14587	T	0.042342	0.26152	T	-0.512968	0.00483	T	-0.516404	0.20660	T	0.0986788660009618	0.12212	T	0.362364	0.08382	T	0.28985387	0.51979	0.17008707	0.39091	0.28985387	0.51979	0.17008707	0.39090	-3.036	0.10574	T	.	.	0.136	0.29670	B	.	.	2.192832	0.27962	17.64	0.97895899398993513	0.36704	0.48758	0.28279	N	AEFBCI	0.741942	0.68571	D	-0.786757312298496	0.13655	0.6742257	-0.641222601534561	0.18438	0.9850003	0.00679982039022438	0.11310	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	3.42	0.38259	1.399000	0.34175	-6.572000	0.01362	-0.185000	0.09859	0.970000	0.34288	0.000000	0.08366	0.058000	0.15825	0.0:0.8033:0.1967:0.0	10.698	0.45106	785	0.46916	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2173.33	34	chr10	94988879	.	G	A	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=796;ExcessHet=0;FS=2.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.85;SOR=0.492	GT:AD:DP:GQ:PL	0/1:77,82:159:99:2187,0,1802	18	0	1	0
chr10	96160136	96160136	T	G	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330732:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330735:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330736:exon6:c.T3814G:p.S1272A,ZNF518A:NM_014803:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001278524:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001278526:exon7:c.T2224G:p.S742A,ZNF518A:NM_001330733:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330734:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330737:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330738:exon7:c.T3814G:p.S1272A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0018	0.000194	30	154602	rs782662387	8.3e-05	8.414e-05	4.776e-05	0.0001	0.0013	7.088e-05	6.636e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0002	0.0013	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.593	0.08134	T	0.011	0.15914	B	0.003	0.08700	B	.	.	.	.	.	.	.	1.43	0.35840	L	.	.	.	.	.	.	0.152	0.15609	.	.	.	.	.	.	.	0.0137916505	0.00291	T	.	.	.	.	.	.	.	0.19670166235	0.19296	0.03557147713596525	0.03504	.	.	0.311803132296	0.12179	T	0.025675	0.19153	T	-0.426442	0.01558	T	-0.41541	0.31603	T	.	.	.	0.335166	0.07140	T	0.0820841	0.18893	0.2438753	0.49840	0.0820841	0.18892	0.2438753	0.49839	-4.928	0.36049	T	.	.	0.083	0.09385	B	.;.;.	.;.;.	1.769205	0.22502	15.64	0.76546051024084605	0.11511	0.78007	0.38425	D	AEFBI	.	.	.	.	.	.	.	.	.	9.41256396643487E-5	0.04910	0.295142	0.05270	0	0.30413	0.05452	0	0.292756	0.05521	0	0.223356	0.04673	0	0.371529	0.36847	6.17	-0.392	0.11822	0.314000	0.19182	0.342000	0.17391	0.660000	0.55035	0.286000	0.25196	0.129000	0.22981	0.987000	0.62547	0.1438:0.2974:0.1252:0.4336	1.546	0.02410	513	0.74941	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	42	chr10	96160136	.	T	G	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.75;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=2.3;SOR=0.738	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1663,0,1615	18	0	1	0
chr10	99831784	99831784	G	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon22:c.G3057C:p.Q1019H	Dubin-Johnson syndrome, Autosomal recessive	1	1506	14	1	0	16	0.00528402	.	.	.	583351	ABCC2-related_disorder|not_provided|Dubin-Johnson_syndrome	.|MedGen:C3661900|MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	0.0587939584899	0.0005	0.000199681	0.0006	0	8.64e-05	0	0	0.0006	0	0.0016	0.0005045	78	154602	rs144521346	0.0003	0.0003	0.0003	0.0004	0.0052	0.0003	0.0003	0.0037	0.0032	0.0002	0.0001	0.0034	0	0	0.0052	0.0002	0.0009	0.0013	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0.0032	0	0	0	0.0003	0	0.0008	0.393	0.10730	T	0.161	0.31326	T	0.025	0.19245	B	0.076	0.28435	B	0.070371	0.21544	N	0.527625	0.98988	0.41043	D	1.5	0.37844	L	-2.54	0.89496	D	-0.27	0.11366	N	0.154	0.15888	-0.1731	0.78352	T	0.538	0.82931	D	10	0.014214784	0.00299	T	0.058794	0.67442	D	0.357	0.67782	0.456	0.52102	0.883164231789	0.88201	0.32830549651836577	0.32743	0.042648702244	0.04603	0.37381246686	0.21377	T	0.107564	0.41987	T	-0.243642	0.14888	T	-0.168303	0.57599	T	0.027423528729687	0.01605	T	0.705929	0.31637	T	0.19026788	0.40604	0.19523627	0.43190	0.19026788	0.40604	0.19523627	0.43189	-7.524	0.57779	D	0.3001190668525124	0.39742	0.292	0.52335	B	.;.	.;.	3.014754	0.40329	21.1	0.5748081435542477	0.05779	0.94190	0.60386	D	AEFBI	0.640369	0.61809	D	-0.146798566187133	0.35372	2.030803	-0.0360763199352493	0.38099	2.239832	0.999514425658563	0.40117	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.63	0.40741	2.231000	0.42654	5.112000	0.47521	0.616000	0.49467	0.996000	0.39380	1.000000	0.68203	0.398000	0.26737	0.1342:0.0:0.7327:0.1331	8.019	0.29556	706	0.57215	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	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	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1945.33	37	chr10	99831784	.	G	C	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=868;ExcessHet=0;FS=8.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.78;SOR=0.49	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1959,0,2185	18	0	1	0
chr10	100288427	100288427	C	T	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon16:c.G2246A:p.R749H,PKD2L1:NM_016112:exon16:c.G2387A:p.R796H	.	427	1048	45	2	0	49	0.0228438	.	.	.	723712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0008	0.00199681	0.0024	9.625e-05	0.0016	0.0002	0	0.0012	0.0044	0.0112	0.0021086	326	154602	rs142439136	0.0014	0.0014	0.0010	0.0019	0.0142	0.0014	0.0014	0.0121	0.0118	0.0001	0.0011	0.0017	2.519e-05	5.616e-05	0.0142	0.0006	0.0019	0.0127	0.0011	0.0011	0.0009	0.0012	0.0108	0.0009	0.0009	0.0084	0.0076	0.0002	0	0.0007	0.0012	0	0	0.0238	0.0011	0.0019	0.0108	0.551	0.06564	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.24	0.59583	T	-2.29	0.50992	N	0.014	0.00160	-1.0290	0.20778	T	0.075	0.30335	T	9	0.0033938587	0.00059	T	.	.	.	0.075	0.21907	.	.	0.256283259241	0.25257	0.23419068029819137	0.23334	0.0822587675246	0.09278	0.198136895895	0.00405	T	0.082556	0.36854	T	-0.572676	0.00213	T	-0.584998	0.14101	T	0.0107580637357385	0.00152	T	0.365463	0.08501	T	0.024329975	0.01253	0.04724396	0.06762	0.024329975	0.01253	0.04724396	0.06762	-4.527	0.31240	T	.	.	0.097	0.15609	B	.	.	-0.471885	0.01959	0.169	0.59807317873006993	0.06311	0.00450	0.02181	N	AEFBI	0.044907	0.07281	N	-1.63518622830802	0.01099	0.04770569	-1.72754793295962	0.01021	0.0457736	0.999999368689944	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.08	-6.61	0.01652	-3.743000	0.00424	-11.204000	0.00625	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.167:0.263:0.57	7.408	0.26174	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.000000	0.013587	0.011696	0.050000	0.008621	0.003049	0.011364	0.02632	1224.33	35	chr10	100288427	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.715;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.206;SOR=0.711	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1238,0,1313	18	0	1	0
chr10	103368376	103368387	CTCCGGAGCCCC	-	exonic	TAF5	.	nonframeshift deletion	TAF5:NM_006951:exon1:c.387_398del:p.S130_P133del,TAF5:NM_139052:exon1:c.387_398del:p.S130_P133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	150.29	68	chr10	103368375	.	GCTCCGGAGCCCC	G	150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.385;DP=1190;ExcessHet=0;FS=47.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.34;ReadPosRankSum=-2.857;SOR=4.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:103368375_GCTCCGGAGCCCC_G:164,0,1532:103368375	18	0	1	0
chr10	103368377	103368377	T	0	exonic	TAF5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	10751.5	36	chr10	103368377	.	T	*	10751.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.922;DP=1178;ExcessHet=1.8686;FS=75.023;InbreedingCoeff=-0.2518;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.156;SOR=0.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:103368375_GCTCCGGAGCCCC_G:164,0,1532:103368375	13	0	1	5
chr10	103368393	103368393	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.A404G:p.E135G,TAF5:NM_139052:exon1:c.A404G:p.E135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.153720025215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.83e-07	3.593e-05	1.553e-06	0	9.975e-07	0	0	.	.	0	0	0	0	0	0	9.975e-07	0	0	2.733e-05	0.0001	2.669e-05	2.799e-05	6.733e-05	8.39e-06	5.3e-06	.	.	0	0	6.733e-05	0	0	0.0002	0	0	0.0005	0	0.154	0.24277	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.132992	0.18567	N	0.537430	0.862857	0.28328	N	1.04	0.26193	L	0.6	0.53731	T	-0.79	0.21860	N	0.03	0.00717	-1.0488	0.14733	T	0.078	0.31103	T	10	0.09397647	0.16674	T	0.15372	0.83494	D	0.101	0.28911	0.075	0.00517	0.367638622828	0.36380	0.16757897474813674	0.16677	0.894647151709	0.70397	0.819475531578	0.84947	D	0.011152	0.09990	T	-0.144445	0.29184	T	-0.445262	0.28220	T	0.29301992058754	0.24716	T	0.480552	0.14510	T	0.15430008	0.34932	0.1793036	0.40655	0.15430008	0.34931	0.1793036	0.40655	-1.539	0.01846	T	.	.	0.060	0.00919	B	.	.	3.217617	0.43821	21.8	0.98831101200191784	0.46952	0.55304	0.29830	D	AEFDBHCIJ	0.052950	0.09498	N	-0.424724002173416	0.24605	1.329748	-0.258590702986731	0.29477	1.651733	0.999999622365115	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	3.27	0.36580	1.494000	0.35225	8.749000	0.78216	0.658000	0.54486	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.6492:0.181:0.1698:0.0	4.400	0.10810	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	162.11	55	chr10	103368393	.	A	G	162.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.199;DP=905;ExcessHet=0;FS=52.797;InbreedingCoeff=-0.0572;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.95;ReadPosRankSum=-2.545;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,7:41:99:0|1:103368375_GCTCCGGAGCCCC_G:175,0,1407:103368375	17	0	1	1
chr10	103368396	103368396	T	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.T407G:p.V136G,TAF5:NM_139052:exon1:c.T407G:p.V136G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0784865363874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.438e-06	7.61e-05	3.079e-06	7.841e-06	5.692e-05	2.26e-06	1.45e-06	9.43e-06	3.53e-06	0	5.692e-05	0	3.259e-05	0	0	3.945e-06	0	0	4.807e-05	0.0002	6.7e-05	2.817e-05	6.049e-05	2.195e-05	1.582e-05	2.011e-05	1.151e-05	2.502e-05	0	0	0	0	0.0002	0	6.049e-05	0	0	0.506	0.07594	T	0.391	0.15456	T	0.002	0.09854	B	0.003	0.08700	B	0.442574	0.12609	N	0.734402	0.866106	0.35476	D	-0.895	0.01383	N	0.73	0.50721	T	-0.15	0.09297	N	0.089	0.06720	-1.0591	0.11981	T	0.063	0.26279	T	10	0.052879363	0.05390	T	0.078487	0.73017	D	0.044	0.11924	0.113	0.02240	0.143184338766	0.13958	0.20401842641528983	0.20318	0.990479955859	0.74054	0.770609021187	0.77515	T	0.008563	0.07851	T	-0.170808	0.25112	T	-0.483131	0.24113	T	0.121761955320835	0.14601	T	0.279972	0.04873	T	0.042733803	0.06534	0.058080304	0.10671	0.042733803	0.06533	0.058080304	0.10670	-1.882	0.02765	T	.	.	0.051	0.00165	B	.	.	2.071018	0.26338	17.08	0.86345754343650649	0.16475	0.72394	0.35436	D	AEFDBHCIJ	0.187123	0.31442	N	-0.727865208978981	0.15241	0.7663986	-0.601647704353175	0.19451	1.043616	0.999998671693393	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	-1.59	0.08003	0.652000	0.24573	-0.184000	0.11104	0.580000	0.29708	0.976000	0.34826	0.582000	0.25626	0.975000	0.56047	0.1471:0.5411:0.0:0.3117	6.911	0.23515	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004592	0.010638	0.004144	0.000000	0.000000	0.000000	0.009202	0.003817	0.03846	120.07	55	chr10	103368396	.	T	G	120.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-3.425;DP=854;ExcessHet=0;FS=39.882;InbreedingCoeff=-0.1178;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=-3.049;SOR=3.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,6:41:99:0|1:103368375_GCTCCGGAGCCCC_G:131,0,1396:103368375	12	0	1	6
chr10	103455551	103455551	A	C	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon2:c.T752G:p.F251C	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.156122160668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	1.361e-06	5.501e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.103850	1	0.81001	D	2.605	0.76211	M	0.4	0.57261	T	-7.11	0.93999	D	0.928	0.93252	-0.2197	0.77159	T	0.364	0.72498	T	10	0.9612361	0.95536	D	0.156122	0.83694	D	0.771	0.92294	0.831	0.94042	0.590108981234	0.58686	0.8926024701985863	0.89230	0.744400611753	0.63432	0.723270595074	0.70523	T	0.334831	0.70452	T	0.33078	0.85216	D	0.237366	0.85021	D	0.998069226741791	0.93135	D	0.871113	0.57669	D	0.8584835	0.87970	0.8401839	0.90850	0.8584835	0.87972	0.8401839	0.90851	-4.294	0.28093	T	0.8119718443339465	0.88673	0.986	0.92429	P	.	.	5.280188	0.88659	29.7	0.99330409814107656	0.59738	0.99021	0.90073	D	AEFDGBI	0.955194	0.97285	D	0.808313622497247	0.86624	8.945275	0.769185112509114	0.87581	9.272188	0.999999999991171	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	8.818000	0.91619	10.926000	0.84261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.161	0.72466	264	0.89640	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2688.33	42	chr10	103455551	.	A	C	2688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=897;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.26;SOR=0.737	GT:AD:DP:GQ:PL	0/1:111,101:212:99:2702,0,3087	18	0	1	0
chr10	113622035	113622035	T	G	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon23:c.A2495C:p.K832T,NRAP:NM_006175:exon23:c.A2498C:p.K833T,NRAP:NM_001261463:exon24:c.A2603C:p.K868T,NRAP:NM_198060:exon24:c.A2603C:p.K868T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0393759058379	.	.	4.118e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs780583055	5.472e-06	5.472e-06	0	1.1e-05	9.275e-05	2.35e-06	1.7e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.74150	D	0.923	0.51194	P	0.806	0.58437	P	0.000006	0.62929	D	0.140928	1	0.81001	D	3.18	0.88827	M	-0.04	0.63240	T	-5.34	0.84674	D	0.614	0.65930	-0.5634	0.66274	T	0.340	0.70584	T	10	0.56689894	0.65101	D	0.039376	0.58773	D	0.383	0.70029	0.467	0.53891	0.796960931112	0.79507	0.6055419517626552	0.60485	0.344227870731	0.36350	0.322431653738	0.13789	T	0.349516	0.71736	T	-0.120423	0.33053	T	-0.151076	0.59148	T	0.928123533725739	0.59139	D	0.917308	0.70348	D	0.75584346	0.81209	0.64246076	0.79106	0.75584346	0.81210	0.64246076	0.79107	-10.783	0.78454	D	.	.	0.400	0.60264	A	.;.;.;.	.;.;.;.	2.511833	0.32444	19.04	0.99740648709643875	0.83482	0.97265	0.73672	D	AEFBI	0.385549	0.46625	N	0.075466122056093	0.45320	2.790501	-0.0751637493401395	0.36420	2.119291	5.6050708138429E-4	0.07304	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	5.99	-0.923	0.09933	1.828000	0.38750	-0.197000	0.10982	0.665000	0.62972	0.988000	0.36536	0.001000	0.17328	0.984000	0.60418	0.0:0.3739:0.0:0.6261	10.384	0.43310	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	993.33	43	chr10	113622035	.	T	G	993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=789;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.829;SOR=0.811	GT:AD:DP:GQ:PL	0/1:46,37:83:99:1007,0,1324	18	0	1	0
chr10	119670007	119670007	G	A	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.G337A:p.V113I	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	397399	Dilated_cardiomyopathy_1HH|Cardiovascular_phenotype|Myofibrillar_myopathy_6|not_specified	MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.104	0.0193910934846	.	.	3.298e-05	0	0	0	0	6.003e-05	0	0	2.59e-05	4	154602	rs781093275	1.368e-05	1.368e-05	9.528e-06	1.788e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.259e-05	1.656e-05	2.319e-05	1.969e-05	1.969e-05	2.57e-05	1.342e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.039	0.51112	D	0.039	0.21116	B	0.016	0.17743	B	0.033121	0.24940	N	0.477459	1	0.08975	N	1.1	0.28011	L	-0.77	0.73739	T	-0.37	0.13226	N	0.115	0.10340	-0.8618	0.51133	T	0.239	0.60679	T	10	0.106381774	0.19709	T	0.019391	0.41739	T	0.104	0.29647	0.289	0.24921	0.725845606683	0.72341	0.21779596080686475	0.21695	0.101249323043	0.11452	0.347391277552	0.17538	T	0.101615	0.40853	T	-0.229966	0.16653	T	-0.437656	0.29072	T	0.125065848231316	0.14918	T	0.644736	0.27667	T	0.055855006	0.10912	0.075352594	0.16579	0.055855006	0.10912	0.075352594	0.16579	-4.506	0.30967	T	0.14752158351094835	0.17102	0.077	0.16451	B	.;.	.;.	1.263330	0.16614	12.65	0.99420966150860546	0.63790	0.26810	0.23099	N	AEFBCI	0.153135	0.27795	N	-0.576982431136245	0.19645	1.029786	-0.505954441822678	0.21991	1.192288	0.999968508982123	0.48965	0.833774	0.99917	0	0.653731	0.59785	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.49	4.52	0.54797	0.408000	0.20787	1.075000	0.23839	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.279000	0.23992	0.0:0.0:0.8015:0.1985	15.505	0.75464	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1438.33	33	chr10	119670007	.	G	A	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.29;SOR=0.748	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1452,0,1108	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	0/1:59,22:83:56:56,0,938	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|1:100,41:141:99:0|1:124989533_G_A:1400,0,3962:124989533	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	0/1:116,28:144:99:330,0,3804	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|1:120,18:138:99:0|1:124994489_T_G:395,0,4983:124994489	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|1:130,22:152:99:0|1:124994489_T_G:518,0,5311:124994489	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|1:127,22:149:99:0|1:124994489_T_G:527,0,5185:124994489	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|1:120,32:152:99:0|1:124994523_G_A:929,0,4796:124994523	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	0/1:120,36:156:99:646,0,3323	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	0/1:124,42:166:99:601,0,3468	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|1:136,43:179:99:0|1:124994577_C_A:1353,0,5473:124994577	0	0	19	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	84.3	74	chr10	125003381	.	AC	A	84.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=1809;ExcessHet=0;FS=18.65;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-9.46;QD=0.83;ReadPosRankSum=-1.271;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:98:0|1:125003381_AC_A:98,0,3851:125003381	18	0	1	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	296.38	60	chr10	125003448	.	G	C	296.38	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.301;DP=1574;ExcessHet=0.3672;FS=5.744;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=59.14;MQRankSum=-8.275;QD=1.23;ReadPosRankSum=0.628;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:99:0|1:125003425_G_C:152,0,3122:125003425	7	0	3	9
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	35.05	51	chr10	125003470	.	G	T	35.05	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=1409;ExcessHet=0;FS=0;InbreedingCoeff=-0.1697;MLEAC=2;MLEAF=0.1;MQ=59.19;MQRankSum=-7.018;QD=0.47;ReadPosRankSum=-0.093;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,6:75:44:0|1:125003425_G_C:44,0,2874:125003425	9	0	1	9
chr11	1015798	1015798	C	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G7003T:p.V2335L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00502545592405	.	.	7.329e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs745329337	4.57e-05	4.583e-05	5.06e-05	4.064e-05	0.0004	3.663e-05	3.333e-05	6.41e-05	4.063e-05	0	0	0	0	0	0.0004	5.651e-05	0	1.322e-05	3.29e-05	3.285e-05	1.286e-05	5.388e-05	7.354e-05	1.262e-05	7.99e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.354e-05	0	0	0.083	0.33091	T	0.23	0.25135	T	0.276	0.31942	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.15	0.19311	T	-0.83	0.22727	N	0.047	0.01911	-0.9817	0.34608	T	0.026	0.10954	T	9	0.051725328	0.05099	T	0.005025	0.12690	T	0.009	0.00846	0.225	0.14960	0.107399877778	0.10242	0.12238505613610717	0.12165	0.087332336583	0.09842	0.27517670393	0.06829	T	0.028647	0.20702	T	-0.463436	0.00935	T	-0.677768	0.07120	T	0.0479168938371266	0.05128	T	.	.	.	0.059534736	0.12110	0.07136669	0.15274	0.059534736	0.12110	0.07136669	0.15274	-3.284	0.13532	T	.	.	0.106	0.19598	B	.	.	-1.118930	0.00618	0.016	0.7225777912732827	0.09911	0.09069	0.14898	N	AEFDBHCI	0.088075	0.17856	N	-1.11090831187758	0.06448	0.2968501	-1.17093839091298	0.06400	0.3079313	0.994385148032956	0.33613	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	3.2	1.17	0.19998	-0.473000	0.06694	-2.396000	0.03807	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7669:0.0:0.2331	7.894	0.28858	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	35	chr11	1015798	.	C	A	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=759;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.516;SOR=0.808	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1167,0,1367	18	0	1	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	18479.6	163	chr11	1018226	.	T	*	18479.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.37;DP=4229;ExcessHet=38.2876;FS=14.16;InbreedingCoeff=-0.8999;MLEAC=1;MLEAF=0.026;MQ=57.2;MQRankSum=-8.934;QD=4.73;ReadPosRankSum=-0.063;SOR=1.376	GT:AD:DP:GQ:PL	0/1:164,26:213:99:586,0,6969	18	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,25:218:99:.:.:490,0,7735:.	11	0	5	3
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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	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|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	9	0	6	4
chr11	1096199	1096199	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1971.24	440	chr11	1096199	.	C	*	1971.24	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.182;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	8	0	3	8
chr11	1096203	1096203	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1903.63	440	chr11	1096203	.	C	*	1903.63	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.25;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	7	0	3	9
chr11	1096204	1096204	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096204	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	9	0	3	7
chr11	1096205	1096205	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096205	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,104:401:99:0|1:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:2773,0,11708:1096143	9	0	3	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,140:399:99:1|0:1096143_TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC_T:3658,0,10800:1096143	2	0	6	11
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	327.67	89	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	327.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.138;DP=3127;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=38.56;MQRankSum=0.398;QD=1.22;ReadPosRankSum=-7.659;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,39:268:99:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:341,0,5278:1097308	17	0	1	1
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.24	104	chr11	1098120	.	C	A	172.24	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.076;DP=2337;ExcessHet=0.119;FS=7.88;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.071;MQ=35.1;MQRankSum=-0.242;QD=0.63;ReadPosRankSum=-2.129;SOR=0.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,11:155:10:0|1:1098120_C_A:10,0,5903:1098120	12	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	228.25	102	chr11	1098124	.	C	T	228.25	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.771;DP=2209;ExcessHet=0.119;FS=11.487;InbreedingCoeff=-0.3324;MLEAC=5;MLEAF=0.625;MQ=33.92;MQRankSum=-0.034;QD=0.9;ReadPosRankSum=-2.408;SOR=0.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,10:144:17:0|1:1098120_C_A:17,0,5569:1098120	2	0	2	15
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,38:119:99:.:.:1466,0,10422:.	6	0	6	7
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,197:283:99:.:.:7166,2585,3124:.	10	0	9	0
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I	.	419	1075	27	1	0	29	0.0133089	.	.	.	175096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020182	0.015152	0.020492	0.035088	0.000000	0.051724	0.015337	0.007576	0.02632	1162.33	35	chr11	1226857	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=749;ExcessHet=0;FS=4.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.063;SOR=0.322	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1176,0,1318	18	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	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	.	.	.	.	.	.	.	.	0.05263	5246.83	253	chr11	1243062	.	C	G	5246.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.23;DP=2429;ExcessHet=0.119;FS=2.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.86;MQRankSum=-0.112;QD=11.98;ReadPosRankSum=2.37;SOR=0.917	GT:AD:DP:GQ:PL	0/1:135,93:228:99:2347,0,3500	17	0	2	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	0/1:0,82:170:99:.:.:6420,3076,3523:.	8	2	9	0
chr11	1866667	1866667	G	T	exonic	LSP1	.	stopgain	LSP1:NM_001242932:exon2:c.G193T:p.E65X	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916885599	5.006e-06	4.788e-06	7.056e-06	2.9e-06	3.165e-05	2.08e-06	1.34e-06	8.7e-07	5.9e-07	3.165e-05	0	0	0	0	0	3.707e-06	3.448e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.383	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183141	0.72332	D	0.0252936	0.71973	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.052709	0.04656	1.311	0.98126650319118225	0.38481	0.07558	0.13570	N	AEFDBCI	0.033253	0.03908	N	0.0129743799161102	0.42445	2.557506	-0.425961931557102	0.24239	1.326208	0.999943181048669	0.47345	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.55	-0.554	0.11220	-0.540000	0.06195	-0.128000	0.11649	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.292:0.2331:0.4749:0.0	3.058	0.05817	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	45	chr11	1866667	.	G	T	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.186;DP=964;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.225;SOR=0.593	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1033,0,1109	18	0	1	0
chr11	4602217	4602217	C	A	exonic	TRIM68	.	nonsynonymous SNV	TRIM68:NM_001304496:exon3:c.G49T:p.V17F,TRIM68:NM_018073:exon4:c.G718T:p.V240F	.	.	.	.	.	.	.	.	.	.	.	2702806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00773304961372	.	0.000199681	9.884e-05	0	0	0	0	4.495e-05	0	0.0005	8.41e-05	13	154602	rs563820880	3.557e-05	3.557e-05	3.947e-05	3.163e-05	0.0003	2.762e-05	2.501e-05	0.0002	0.0002	0	0	0	0	0.0003	0	0	8.279e-05	0.0003	5.909e-05	5.906e-05	5.14e-05	6.712e-05	0.0008	3.075e-05	2.208e-05	0.0003	0.0002	0	0	0	0	0	0.0004	0	1.47e-05	0	0.0008	0.032	0.44694	D	0.706	0.23298	T	0.001	0.07471	B	0.003	0.08700	B	0.528637	0.11663	N	0.697745	1	0.08975	N	1.525	0.38595	L	3.55	0.04746	T	-1.42	0.34992	N	0.337	0.37820	-0.9033	0.47639	T	0.008	0.02679	T	10	0.03956005	0.02456	T	0.007733	0.20510	T	0.020	0.03691	0.413	0.45052	0.134241683229	0.13084	0.3495100803008299	0.34865	0.10904124283	0.12296	0.51902538538	0.41489	T	0.042286	0.26133	T	-0.476953	0.00771	T	-0.594926	0.13242	T	0.0198749960749801	0.00689	T	0.645735	0.25721	T	0.05774831	0.11530	0.077456474	0.17255	0.05774831	0.11530	0.077456474	0.17255	-3.988	0.23624	T	.	.	0.114	0.22644	B	.;.	.;.	1.240006	0.16358	12.49	0.93953088637674353	0.24015	0.02132	0.06289	N	AEFBI	0.035260	0.04508	N	-1.07695427920544	0.07070	0.3273382	-1.07361912040608	0.08221	0.4033197	0.0311427313284672	0.13985	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.17	-0.415	0.11739	-0.751000	0.04908	.	.	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.695000	0.33988	0.3718:0.4102:0.0:0.218	3.011	0.05678	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	.	.	.	.	.	.	.	.	0.02632	1563.33	33	chr11	4602217	.	C	A	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.291;DP=780;ExcessHet=0;FS=4.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.636;SOR=0.749	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1577,0,2132	18	0	1	0
chr11	5402811	5402811	C	T	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.C215T:p.A72V	.	429	1088	2	0	3	5	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00272841645741	.	.	0.0006	0	0	0	0	0.0003	0	0.0010	7.12e-05	11	154602	rs114782317	0.0002	0.0001	0.0001	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0	7.329e-05	0	0	0	0.0007	0.0001	6.921e-05	0.0009	6.564e-05	6.561e-05	5.138e-05	8.054e-05	0.0008	3.513e-05	2.614e-05	0.0003	0.0002	0	0	6.535e-05	0	0	0	0	7.349e-05	0	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	.	.	.	.	.	.	.	.	0.02632	3833.33	39	chr11	5402811	.	C	T	3833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.723;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.502;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,103:233:99:0|1:5402811_C_T:3847,0,4990:5402811	18	0	1	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N,UBQLN3:NM_017481:exon2:c.G1930A:p.D644N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated 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	0.000000	0.000000	0.003788	0.02632	1537.33	36	chr11	5507629	.	C	T	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.067;DP=787;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.205;SOR=0.565	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1551,0,1416	18	0	1	0
chr11	5633806	5633806	G	C	exonic	TRIM34;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM34:NM_130390:exon2:c.G426C:p.E142D,TRIM34:NM_001003827:exon3:c.G426C:p.E142D,TRIM34:NM_021616:exon3:c.G426C:p.E142D,TRIM6-TRIM34:NM_001003819:exon9:c.G1488C:p.E496D	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0054	0.0135783	0.0075	0.0182	0.0016	0.0002	0	0.0002	0.0045	0.0412	0.0065394	1011	154602	rs61758097	0.0030	0.0030	0.0019	0.0040	0.0380	0.0029	0.0029	0.0369	0.0365	0.0180	0.0015	0.0002	5.044e-05	0	0.0033	0.0001	0.0038	0.0380	0.0064	0.0064	0.0059	0.0070	0.0394	0.0061	0.0059	0.0348	0.0331	0.0173	0	0.0027	0.0003	0	0	0.0068	0.0002	0.0043	0.0394	0.093	0.31532	T	0.163	0.39954	T	0.002	0.09854	B	0.013	0.16460	B	0.630475	0.10692	N	0.754333	1	0.81001	D	2.24	0.63355	M	0.36	0.57880	T	-1.77	0.48687	N	0.24	0.27077	-0.9882	0.33052	T	0.071	0.28969	T	10	0.0021004677	0.00030	T	.	.	.	0.044	0.11924	0.365	0.37199	0.446813524615	0.44301	0.0780431514263225	0.08937	0.0658641321611	0.07348	0.26822167635	0.05911	T	0.022899	0.17573	T	-0.517296	0.00456	T	-0.487973	0.23603	T	0.0044925577068913	0.00048	T	0.136686	0.01080	T	0.08396233	0.19412	0.078291446	0.17522	0.08396233	0.19412	0.078291446	0.17522	-7.465	0.57364	T	.	.	0.140	0.34160	B	.;.;.	.;.;.	1.597462	0.20426	14.74	0.98229303666252832	0.39378	0.13487	0.17883	N	AEFBI	0.136607	0.25733	N	-0.656238327623255	0.17279	0.8877658	-0.674587838342011	0.17597	0.9364115	0.740767640202328	0.23208	0.651	0.46895	0	0.71359	0.82159	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.44	1.46	0.21769	-0.084000	0.11233	.	.	0.676000	0.76740	0.470000	0.26722	0.000000	0.08366	0.069000	0.16583	0.2018:0.1763:0.6219:0.0	4.921	0.13224	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	0.004145	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2427.33	36	chr11	5633806	.	G	C	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.902;DP=770;ExcessHet=0;FS=1.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-0.246;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,67:126:99:0|1:5633781_G_C:2441,0,2126:5633781	18	0	1	0
chr11	5709206	5709206	C	T	exonic	TRIM22	.	nonsynonymous SNV	TRIM22:NM_001199573:exon8:c.C1043T:p.S348L,TRIM22:NM_006074:exon8:c.C1055T:p.S352L	.	.	.	.	.	.	.	.	.	.	.	3336815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.419	0.204182312524	.	.	0.0002	0	0.0002	0	0	4.495e-05	0	0.0012	0.0001617	25	154602	rs775271050	0.0001	0.0001	8.712e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	8.961e-05	0.0001	3.826e-05	0	0	0	5.216e-05	0.0001	0.0012	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0006	2.111e-05	1.528e-05	0.0002	8.985e-05	2.416e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.979863	0.81001	N	4.075	0.97183	H	-0.33	0.68329	T	-5.53	0.86073	D	0.384	0.42541	-0.3141	0.74589	T	0.596	0.85600	D	9	0.45073974	0.58681	T	0.204182	0.86917	D	0.419	0.72855	0.863	0.95940	0.814538335153	0.81279	0.21191922693378581	0.21107	0.333238849342	0.35360	0.365360319614	0.20163	T	0.101935	0.40918	T	-0.28848	0.09790	T	-0.23271	0.51509	T	0.5104640644544	0.33015	D	0.972103	0.89869	D	0.3890343	0.59963	0.45098025	0.68053	0.3890343	0.59963	0.45098025	0.68054	-8.05	0.61410	D	.	.	0.144	0.31658	B	.	.	3.757347	0.53892	23.4	0.99861679034072603	0.94002	0.25726	0.22784	N	AEFBCI	0.127221	0.24449	N	0.374526526616569	0.60043	4.189314	0.13692416373438	0.46454	2.891043	0.85653998777022	0.25144	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.72	2.68	0.30839	0.540000	0.22900	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.2044:0.7955:0.0:0.0	9.893	0.40472	884	0.28482	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM22, PRY/SPRY 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	2332.33	38	chr11	5709206	.	C	T	2332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=863;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.8;SOR=0.585	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2346,0,1824	18	0	1	0
chr11	6556911	6556911	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.A7616G:p.H2539R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0179663218908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	0.773936	0.29406	N	2.19	0.61577	M	1.32	0.35219	T	-3.74	0.71042	D	0.618	0.74553	-0.9700	0.37200	T	0.102	0.37718	T	9	0.9459691	0.93923	D	0.017966	0.39871	T	0.313	0.63482	0.799	0.91874	0.548654159409	0.54520	0.8350328121061054	0.83462	0.621443228783	0.56432	0.593486905098	0.51985	T	0.031875	0.22237	T	-0.0492669	0.44557	T	-0.308545	0.43815	T	0.936464071273804	0.60548	D	0.519848	0.16911	T	0.64319104	0.75001	0.62940764	0.78385	0.64319104	0.75003	0.62940764	0.78386	-8.248	0.62747	D	.	.	0.375	0.58156	A	.;.	.;.	3.422833	0.47532	22.5	0.99389165874062768	0.62247	0.92896	0.56812	D	AEFDGBI	0.291913	0.40292	N	0.32962207179311	0.57673	3.935715	0.336204328837747	0.57681	3.934745	0.999816346887028	0.43459	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.36	5.36	0.76624	4.699000	0.61482	11.179000	0.88243	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.269000	0.23743	0.847:0.0:0.0:0.153	9.841	0.40166	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1815.33	99	chr11	6556911	.	A	G	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.247;DP=1346;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.33;SOR=0.724	GT:AD:DP:GQ:PL	0/1:111,76:187:99:1829,0,2984	18	0	1	0
chr11	7042561	7042561	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G535A:p.V179M	.	424	1067	27	4	0	35	0.0161365	.	.	.	2816418	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.559	.	0.0040	0.00259585	0.0051	9.714e-05	0.0016	0.0001	0.0024	0.0057	0.0044	0.0121	0.0047347	732	154602	rs149541731	0.0039	0.0039	0.0035	0.0042	0.0132	0.0038	0.0038	0.0110	0.0107	0.0007	0.0025	0.0411	2.519e-05	0.0015	0.0132	0.0026	0.0063	0.0116	0.0034	0.0034	0.0033	0.0035	0.0128	0.0032	0.0031	0.0103	0.0093	0.0006	0	0.0045	0.0369	0	0.0014	0.0068	0.0030	0.0047	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000725	0.42129	D	0.000000	0.804602	0.34557	D	3.205	0.89189	M	-1.72	0.83241	D	-2.77	0.58733	D	0.47	0.50598	0.322	0.87899	D	0.590	0.85316	D	10	0.014171183	0.00298	T	.	.	.	0.559	0.81888	.	.	0.802354826885	0.80051	0.2722668744954465	0.27139	0.149034713333	0.16805	0.448349237442	0.31719	T	0.385774	0.74709	T	-0.199575	0.20866	T	-0.0484216	0.67131	D	0.0438593696894781	0.04395	T	0.754025	0.37642	T	0.34251463	0.56479	0.36897784	0.62177	0.34251463	0.56479	0.36897784	0.62177	-6.375	0.49314	T	.	.	0.243	0.47752	B	.	.	3.590258	0.50659	23.0	0.99849493235859421	0.92925	0.92627	0.56158	D	AEFBI	0.263047	0.38066	N	0.238519058733931	0.53074	3.477999	0.0383602981176532	0.41513	2.495254	0.00209452125363833	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	2.35	0.28166	4.121000	0.57654	4.050000	0.41500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0949:0.1673:0.7378:0.0	7.601	0.27245	687	0.59234	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	0.011581	0.010101	0.004076	0.008772	0.050000	0.043103	0.015244	0.007576	0.02632	1726.33	45	chr11	7042561	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=978;ExcessHet=0;FS=1.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.652;SOR=0.527	GT:AD:DP:GQ:PL	0/1:39,62:101:99:1740,0,941	18	0	1	0
chr11	7043903	7043903	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1877A:p.R626Q	.	.	.	.	.	.	.	.	.	.	.	2358996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.00526153406226	.	0.000199681	8.248e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs569899906	5.473e-06	5.472e-06	1.361e-06	9.626e-06	4.637e-05	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	2.698e-06	1.656e-05	4.637e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.387	0.10945	T	0.693	0.05863	T	0.005	0.12996	B	0.002	0.06944	B	0.578988	0.05524	N	1.248380	1	0.08975	N	-0.275	0.03743	N	-2.43	0.88689	D	0.26	0.04380	N	0.051	0.02272	-0.7321	0.58857	T	0.367	0.72735	T	10	0.024626672	0.00684	T	0.005262	0.13433	T	0.206	0.49396	0.503	0.59615	0.254761474806	0.25079	0.043216040016202446	0.04266	0.0185626472875	0.01807	0.168932512403	0.00028	T	0.006453	0.05881	T	-0.341839	0.05261	T	-0.526151	0.19674	T	0.0232684411778802	0.01056	T	0.649435	0.26018	T	0.032591555	0.03314	0.037717603	0.03484	0.032591555	0.03313	0.037717603	0.03484	-3.229	0.12838	T	.	.	0.068	0.02670	B	.	.	-0.083566	0.03741	0.774	0.74842335963612583	0.10848	0.00217	0.01229	N	AEFBI	0.025586	0.01776	N	-1.55963184368347	0.01479	0.06456052	-1.56987203359994	0.01843	0.08395202	2.64768408959494E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-2.5	0.06015	-0.994000	0.03827	-0.976000	0.06729	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.4233:0.0:0.5767:0.0	9.46	0.37943	687	0.59234	.	.	.	.	.	.	Likely benign	0	0	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	1790.33	45	chr11	7043903	.	G	A	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=983;ExcessHet=0;FS=4.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.239;SOR=1.059	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1804,0,2137	18	0	1	0
chr11	7049677	7049677	A	C	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon6:c.A2130C:p.K710N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0187489766746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.013	0.63109	D	0.026	0.19406	B	0.015	0.17295	B	0.175133	0.17260	N	0.529794	1	0.08975	N	1.045	0.26769	L	-2.79	0.91019	D	-0.76	0.21215	N	0.121	0.11197	-0.7372	0.58596	T	0.425	0.76883	T	10	0.064536154	0.08574	T	0.018749	0.40914	T	0.119	0.33137	0.504	0.59770	0.447410926215	0.44366	0.1385490419450011	0.13777	0.0193230081328	0.01893	0.313244342804	0.12397	T	0.011399	0.10174	T	-0.149579	0.28376	T	-0.452637	0.27405	T	0.0388917818741685	0.03491	T	0.415458	0.10884	T	0.08445545	0.19549	0.05658427	0.10137	0.08445545	0.19549	0.05658427	0.10137	-3.576	0.17510	T	.	.	0.274	0.50772	B	.	.	0.415050	0.07859	4.557	0.9103324645388251	0.20283	0.06487	0.12497	N	AEI	0.071391	0.14210	N	-1.25349155569773	0.04254	0.1916275	-1.246114362059	0.05189	0.2466301	1.24350689809263E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.2	0.133	0.14066	-0.179000	0.09761	0.002000	0.13306	-0.210000	0.08370	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.5778:0.0:0.2686:0.1536	3.889	0.08615	686	0.59327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	965.33	39	chr11	7049677	.	A	C	965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=800;ExcessHet=0;FS=3.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.582;SOR=1.314	GT:AD:DP:GQ:PL	0/1:27,35:62:99:979,0,627	18	0	1	0
chr11	17645578	17645578	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon54:c.C8512T:p.R2838C,OTOG:NM_001292063:exon55:c.C8476T:p.R2826C	Deafness, autosomal recessive 18B, Autosomal recessive	8	1501	13	0	0	13	0.00431177	.	.	.	215430	OTOG-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.177	.	.	0.000599042	0.0021	0	0.0035	0	0.0022	0.0040	0.0119	0.0009	0.0005563	86	154602	rs191662816	0.0026	0.0025	0.0027	0.0025	0.0051	0.0025	0.0025	0.0036	0.0032	0.0003	0.0009	0.0052	0.0006	0.0017	0.0051	0.0028	0.0021	0.0024	0.0021	0.0021	0.0022	0.0020	0.0031	0.0019	0.0018	0.0028	0.0027	0.0003	0.0318	0.0006	0.0043	0.0002	0.0023	0	0.0031	0.0019	0.0025	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.007406	0.31413	U	0.113154	0.993055	0.41822	D	1.585	0.39878	L	2.29	0.17113	T	-6.23	0.90490	D	0.438	0.47672	-1.1392	0.01388	T	0.038	0.16505	T	8	0.008724064	0.00198	T	.	.	.	0.177	0.44549	.	.	0.519351293798	0.51580	0.5392584237348957	0.53850	.	.	0.621142864227	0.55890	T	0.366961	0.73212	T	-0.383135	0.02976	T	-0.326488	0.41858	T	0.0740020094112973	0.09202	T	0.960654	0.85651	D	0.44558603	0.63761	0.3040868	0.56438	0.47643542	0.65684	0.3320875	0.59060	-9.597	0.71461	D	.	.	0.831	0.79479	P	.;.	.;.	5.740975	0.93331	33	0.9989847500648793	0.97124	0.93611	0.58692	D	AEFDBI	0.788657	0.71808	D	0.288032255894726	0.55541	3.718164	0.351293237660751	0.58585	4.029976	0.916407093892662	0.26512	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.09	3.0	0.33773	4.918000	0.63075	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3203:0.6797:0.0:0.0	11.458	0.49437	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2334.81	37	chr11	17645578	.	C	T	2334.81	.	AC=2;AF=0.053;AN=38;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.84;SOR=2.269	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2362,207,0	18	1	0	0
chr11	19055676	19055676	A	G	exonic	MRGPRX2	.	nonsynonymous SNV	MRGPRX2:NM_054030:exon2:c.T727C:p.W243R,MRGPRX2:NM_001303615:exon3:c.T727C:p.W243R	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00449831866982	0.0043	0.00139776	0.0033	0.0009	0.0022	0	0.0005	0.0053	0.0011	0.0005	0.003454	534	154602	rs150365137	0.0053	0.0053	0.0053	0.0052	0.0064	0.0052	0.0051	0.0062	0.0062	0.0009	0.0023	0.0051	0	0.0008	0.0035	0.0064	0.0038	0.0006	0.0035	0.0035	0.0037	0.0032	0.0056	0.0032	0.0031	0.0051	0.0049	0.0015	0	0.0032	0.0040	0	0.0008	0.0034	0.0056	0.0047	0.0004	0.016	0.51853	D	0.036	0.52060	D	0.76	0.43524	P	0.468	0.46719	P	0.003929	0.34318	N	0.136197	1	0.08975	N	2.425	0.70256	M	1.31	0.35405	T	-10.13	0.98888	D	0.375	0.41656	-1.0190	0.24041	T	0.067	0.27640	T	10	0.011009783	0.00242	T	0.004498	0.11063	T	0.115	0.32236	0.675	0.81299	0.187945064343	0.18414	0.527254929087022	0.52649	0.325657707358	0.34714	0.257886528969	0.04643	T	0.037274	0.24416	T	-0.452719	0.01088	T	-0.421157	0.30942	T	0.06922596393841	0.08542	T	0.0106989	0.00059	T	0.48203486	0.66023	0.40557894	0.64954	0.48203486	0.66024	0.40557894	0.64954	-7.503	0.57631	D	.	.	0.634	0.70272	P	.	.	2.312745	0.29604	18.18	0.66292496617728691	0.08016	0.03515	0.08696	N	AEFBI	0.036726	0.04940	N	-0.531263243908647	0.21076	1.115807	-0.757353633003327	0.15542	0.8178813	3.03709633353647E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.92	-2.53	0.05959	-0.048000	0.11898	-1.835000	0.04640	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.4327:0.2378:0.0:0.3295	5.747	0.17392	872	0.31118	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	0.004028	0.000000	0.002717	0.000000	0.050000	0.017241	0.003049	0.007576	0.02632	1525.33	34	chr11	19055676	.	A	G	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=798;ExcessHet=0;FS=12.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.655;SOR=0.933	GT:AD:DP:GQ:PL	0/1:96,63:159:99:1539,0,2500	18	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044814	0.020202	0.046196	0.114035	0.050000	0.051724	0.015244	0.026515	0.05263	2091.83	36	chr11	26721693	.	C	T	2091.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.038;DP=821;ExcessHet=0.119;FS=0.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.486;SOR=0.635	GT:AD:DP:GQ:PL	0/1:58,39:97:99:976,0,1671	17	0	2	0
chr11	44934952	44934952	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318387:exon5:c.C346T:p.R116C,TP53I11:NM_001318388:exon6:c.C343T:p.R115C,TP53I11:NM_001258324:exon7:c.C502T:p.R168C,TP53I11:NM_001318389:exon7:c.C277T:p.R93C,TP53I11:NM_001318390:exon7:c.C268T:p.R90C,TP53I11:NM_006034:exon7:c.C502T:p.R168C,TP53I11:NM_001258321:exon8:c.C502T:p.R168C,TP53I11:NM_001258322:exon8:c.C502T:p.R168C,TP53I11:NM_001258323:exon8:c.C502T:p.R168C,TP53I11:NM_001318384:exon8:c.C502T:p.R168C,TP53I11:NM_001318385:exon8:c.C502T:p.R168C,TP53I11:NM_001318386:exon8:c.C502T:p.R168C,TP53I11:NM_001258320:exon10:c.C502T:p.R168C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00877329797434	7.7e-05	.	1.65e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs150540503	2.873e-05	2.873e-05	3.403e-05	2.338e-05	3.507e-05	2.152e-05	1.908e-05	2.625e-05	2.305e-05	2.987e-05	2.236e-05	0	0	0	0	3.507e-05	1.656e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	6.534e-05	0	0	0	0	0	0	0.0002	0.081	0.33418	T	0.147	0.32783	T	0.01	0.15535	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	1.16	0.29674	L	.	.	.	-3.39	0.66896	D	0.246	0.27792	-0.9782	0.35413	T	0.120	0.41971	T	8	0.13626221	0.25925	T	0.008773	0.23147	T	0.057	0.16321	.	.	0.208816687407	0.20498	0.8619716270970221	0.86161	1.35714377072	0.84207	0.544050812721	0.45018	T	0.232495	0.59907	T	-0.140197	0.29860	T	-0.257632	0.49061	T	0.862268805503845	0.51258	D	0.916508	0.70155	D	0.15047935	0.34255	0.18558617	0.41680	0.15047935	0.34254	0.18558617	0.41679	-4.124	0.25643	T	.	.	0.153	0.33868	B	.;.;.;.;.	.;.;.;.;.	3.721251	0.53179	23.3	0.99883270857779338	0.95892	0.57155	0.30303	D	AEFGBHCI	0.680880	0.64442	D	-0.0787532692277793	0.38325	2.242948	0.115422200782082	0.45335	2.798632	0.999986766177474	0.51787	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	5.1	0.68917	3.520000	0.53221	5.711000	0.49424	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0883:0.0:0.9117:0.0	10.77	0.45516	873	0.30802	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1066.33	33	chr11	44934952	.	G	A	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=737;ExcessHet=0;FS=5.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.925;SOR=0.67	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1080,0,1237	18	0	1	0
chr11	45902506	45902506	C	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.C739T:p.P247S	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0073	0.00319489	0.0099	0.0030	0.0049	0.0002	0.0210	0.0129	0.0098	0.0075	0.006811	1053	154602	rs117665789	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0016	0.0049	0.0016	0.0001	0.0100	0.0036	0.0107	0.0083	0.0071	0.0069	0.0069	0.0070	0.0068	0.0101	0.0065	0.0064	0.0095	0.0092	0.0022	0.0209	0.0058	0.0020	0	0.0104	0	0.0101	0.0076	0.0058	0.031	0.45039	D	0.616	0.09795	T	0.816	0.45573	P	0.245	0.38823	B	0.000011	0.62929	D	0.065445	0.998496	0.44993	D	1.32	0.33002	L	1.24	0.36691	T	-0.62	0.18248	N	0.343	0.42050	-1.1029	0.03758	T	0.044	0.19111	T	10	0.004411131	0.00090	T	.	.	.	0.117	0.32689	.	.	0.368021343446	0.36418	0.1638190692086197	0.16301	1.23262236702	0.81394	0.584953010082	0.50783	T	0.250764	0.62091	T	-0.541355	0.00329	T	-0.541	0.18198	T	0.0128702646338869	0.00220	T	0.693531	0.30321	T	0.11472272	0.27081	0.11416077	0.27556	0.10529684	0.24894	0.11416077	0.27556	-4.158	0.26141	T	.	.	0.081	0.08033	B	.;.	.;.	3.150523	0.42647	21.6	0.99693363987309003	0.80112	0.65112	0.32629	D	AEFBCI	0.496552	0.53145	N	-0.0136159726570341	0.41238	2.463142	0.0303879258557061	0.41132	2.466171	0.998126188882572	0.36460	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.51	4.51	0.54589	4.404000	0.59494	5.809000	0.49993	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	17.771	0.88403	461	0.78683	.;.	.	.	.	.	rs117665789	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	0.002022	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	3542.83	35	chr11	45902506	.	C	T	3542.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.801;DP=915;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.171;SOR=0.67	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1651,0,1950	17	0	2	0
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|1:234,61:295:99:0|1:56375918_A_G:1850,0,9622:56375918	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|1:234,61:295:99:0|1:56375918_A_G:1850,0,9622:56375918	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|1:234,61:295:99:0|1:56375918_A_G:1850,0,9622:56375918	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	0/1:100,37:137:99:338,0,1933	14	0	4	1
chr11	58227978	58227983	TGTTCC	-	exonic	OR10Q1	.	nonframeshift deletion	OR10Q1:NM_001004471:exon1:c.893_898del:p.R298_N299del	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00299521	0.0024	0.0002	0.0029	0.0001	0.0002	0.0023	0.0022	0.0059	0.0004995	13	26028	rs569971760	0.0020	0.0020	0.0018	0.0023	0.0067	0.0020	0.0019	0.0062	0.0061	0.0002	0.0039	0.0002	2.519e-05	0.0002	0.0024	0.0018	0.0020	0.0067	0.0016	0.0016	0.0016	0.0016	0.0058	0.0014	0.0014	0.0041	0.0036	0.0003	0	0.0031	0	0	0.0004	0	0.0022	0.0019	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2448.29	33	chr11	58227977	.	TTGTTCC	T	2448.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=780;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=-0.068;SOR=0.617	GT:AD:DP:GQ:PL	0/1:47,62:109:99:2462,0,1777	18	0	1	0
chr11	61487042	61487042	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon9:c.G869A:p.R290Q,PPP1R32:NM_145017:exon10:c.G929A:p.R310Q	.	418	1092	12	0	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0034	0.0115815	0.0047	0.0093	0.0020	0.0046	0	0.0009	0.0055	0.0208	0.0044695	691	154602	rs116129637	0.0024	0.0024	0.0019	0.0029	0.0203	0.0023	0.0023	0.0195	0.0192	0.0101	0.0019	0.0002	0.0025	1.872e-05	0.0109	0.0008	0.0045	0.0203	0.0038	0.0038	0.0031	0.0045	0.0274	0.0035	0.0034	0.0236	0.0222	0.0082	0	0.0016	0	0.0041	0	0.0034	0.0008	0.0024	0.0274	0.16	0.32141	T	0.229	0.52389	T	1.0	0.90584	D	0.947	0.68407	D	0.007634	0.31286	N	0.214708	0.917462	0.27371	N	2.585	0.75554	M	0.82	0.48142	T	-2.3	0.58733	N	0.273	0.30914	-0.8856	0.49307	T	0.159	0.49262	T	10	0.0068198144	0.00155	T	.	.	.	0.101	0.28911	.	.	0.654521474474	0.65164	0.32949659460220065	0.32862	0.226280632967	0.25184	0.350288510323	0.17963	T	0.014635	0.12421	T	-0.529328	0.00387	T	-0.517524	0.20546	T	0.027860775352958	0.01668	T	0.860614	0.56831	D	0.08371939	0.19346	0.09112916	0.21408	0.08371939	0.19346	0.09112916	0.21407	-4.55	0.31538	T	.	.	0.099	0.17742	B	.;.;.;.	.;.;.;.	2.892894	0.38319	20.7	0.9989702944340898	0.96971	0.72623	0.35540	D	AEFDGBI	0.111904	0.22138	N	0.243717286688735	0.53329	3.50225	0.150087799238917	0.47147	2.949307	0.999742528050604	0.42466	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.567892	0.33627	0	.	.	4.69	2.79	0.31792	1.741000	0.37862	0.989000	0.23179	0.654000	0.53741	1.000000	0.71638	0.711000	0.26292	0.710000	0.34452	0.1809:0.0:0.8191:0.0	8.944	0.34905	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.02632	2773.33	44	chr11	61487042	.	G	A	2773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=903;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.155;SOR=0.617	GT:AD:DP:GQ:PL	0/1:93,103:196:99:2787,0,2141	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|1:75,37:112:99:0|1:61740527_G_C:318,0,1210:61740527	6	0	13	0
chr11	63466307	63466307	G	A	exonic	PLAAT5	.	nonsynonymous SNV	PLAAT5:NM_001146728:exon5:c.C550T:p.R184C,PLAAT5:NM_001146729:exon5:c.C520T:p.R174C,PLAAT5:NM_054108:exon5:c.C550T:p.R184C	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00589940228046	0.0025	0.000798722	0.0025	0.0009	0.0005	0	0.0005	0.0041	0	0.0009	0.0025873	400	154602	rs148718280	0.0030	0.0030	0.0030	0.0029	0.0032	0.0029	0.0029	0.0031	0.0031	0.0012	0.0011	0.0150	0	0.0007	0.0026	0.0032	0.0031	0.0008	0.0026	0.0026	0.0029	0.0022	0.0039	0.0024	0.0023	0.0035	0.0033	0.0006	0	0.0020	0.0170	0	0.0002	0.0034	0.0039	0.0028	0.0008	0.012	0.54683	D	0.018	0.61642	D	0.999	0.77913	D	0.892	0.63276	P	0.013633	0.28781	N	0.364170	1	0.08975	N	1.63	0.41750	L	2.0	0.21473	T	-2.63	0.61284	D	0.261	0.29544	-1.1104	0.03036	T	0.079	0.31526	T	10	0.012708604	0.00272	T	0.005899	0.15371	T	0.116	0.32463	.	.	0.364141725642	0.36032	0.6964471254383975	0.69585	0.278558837383	0.30337	0.327961057425	0.14627	T	0.004714	0.04123	T	-0.451193	0.01112	T	-0.418549	0.31241	T	0.0226557599521222	0.00983	T	0.313969	0.08235	T	0.14427647	0.33124	0.11109171	0.26794	0.14427647	0.33124	0.11109171	0.26794	-7.397	0.56883	T	.	.	0.147	0.37063	B	.;.;.	.;.;.	3.038420	0.40726	21.2	0.99879977067345582	0.95653	0.09501	0.15243	N	AEFBI	0.122798	0.23811	N	0.0713162377658486	0.45128	2.774597	-0.0570064725851936	0.37188	2.174076	6.38553037757717E-5	0.04366	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.16	3.25	0.36363	1.654000	0.36950	4.907000	0.45915	0.676000	0.76740	0.009000	0.18154	0.952000	0.29052	0.969000	0.54022	0.1073:0.0:0.8927:0.0	8.280	0.31056	459	0.78817	.;.;LRAT-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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2427.33	34	chr11	63466307	.	G	A	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.74;DP=804;ExcessHet=0;FS=3.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.132;SOR=0.959	GT:AD:DP:GQ:PL	0/1:79,95:174:99:2441,0,1908	18	0	1	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G,SLC29A2:NM_001300868:exon5:c.A154G:p.R52G,SLC29A2:NM_001300869:exon5:c.A154G:p.R52G	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005589	0.000000	0.002725	0.000000	0.000000	0.008621	0.012346	0.015385	0.02632	694.33	34	chr11	66369490	.	T	C	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.352;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.262;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,32:83:99:708,0,1387	18	0	1	0
chr11	66557741	66557741	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon10:c.C940T:p.R314C,ACTN3:NM_001258371:exon10:c.C1069T:p.R357C	.	61	1446	14	1	0	16	0.00550206	.	.	.	2813380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0017	0.0001	0.0002	0	0	0.0002	0.0039	0.0114	0.001326	205	154602	rs200574979	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0093	0.0091	0.0002	6.721e-05	0	2.521e-05	0	0.0033	8.995e-05	0.0007	0.0099	0.0004	0.0004	0.0003	0.0005	0.0100	0.0004	0.0003	0.0077	0.0069	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0100	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	0.024686664	0.00688	T	.	.	.	.	.	.	.	0.643721901085	0.64077	0.6907061601940923	0.69010	.	.	0.655592679977	0.60780	T	0.510415	0.82680	D	0.0220035	0.54652	T	0.265511	0.86352	D	.	.	.	0.99685	0.98806	D	0.16444573	0.36653	0.24900775	0.50463	0.16444573	0.36653	0.24900775	0.50462	-9.76	0.72462	D	.	.	0.285	0.60378	B	.;.	.;.	4.754785	0.76815	26.6	0.99939431137062129	0.99734	0.93766	0.59130	D	AEFDGBI	0.781326	0.71294	D	.	.	.	.	.	.	0.981173956377792	0.30228	0.295142	0.05270	0	0.097471	0.02872	0	0.343423	0.05949	0	0.109499	0.03221	0	.	.	4.53	4.53	0.55009	3.287000	0.51438	4.932000	0.46138	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2028:0.7971:0.0:0.0	9.930	0.40686	59	0.97452	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1842.33	34	chr11	66557741	.	C	T	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=764;ExcessHet=0;FS=6.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.699;SOR=1.265	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1856,0,1382	18	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:80,39:119:99:145,0,1467	9	0	8	2
chr11	67397249	67397249	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon7:c.G715A:p.G239S,RAD9A:NM_004584:exon10:c.G943A:p.G315S	.	416	1076	29	1	0	31	0.0142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00674044341663	0.0002	0.000399361	0.0008	0	8.845e-05	0.0001	0	0.0009	0.0034	0.0023	0.0006986	108	154602	rs200889885	0.0005	0.0005	0.0004	0.0006	0.0082	0.0005	0.0005	0.0063	0.0056	0.0003	8.945e-05	0.0080	0	0	0.0082	0.0001	0.0011	0.0029	0.0004	0.0004	0.0004	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0	0	0.0002	0.0084	0	0	0.0034	0.0002	0.0019	0.0025	0.93	0.02250	T	0.404	0.14818	T	0.001	0.07471	B	0.002	0.06944	B	0.196505	0.16710	N	0.637433	1	0.08975	N	1.085	0.27262	L	2.64	0.12780	T	-0.51	0.15986	N	0.118	0.10769	-0.9639	0.38428	T	0.020	0.08500	T	10	0.003173083	0.00053	T	0.00674	0.17812	T	0.067	0.19503	.	.	0.208816687407	0.20498	0.21397613749639785	0.21313	0.123990175203	0.13960	0.318685054779	0.13222	T	0.050718	0.28675	T	-0.599233	0.00147	T	-0.638771	0.09759	T	0.00379153651183673	0.00040	T	0.629237	0.24427	T	0.029976238	0.02583	0.03956437	0.04079	0.029976238	0.02582	0.03956437	0.04078	-2.572	0.06293	T	.	.	0.076	0.05756	B	.	.	1.813035	0.23040	15.86	0.88481324033704301	0.18011	0.26466	0.23001	N	AEFDGBCI	0.114825	0.22602	N	-0.637747467855133	0.17818	0.9201484	-0.55187385330579	0.20757	1.119749	0.999997243207629	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.643519	0.47002	0	0.692231	0.68500	0	.	.	4.68	2.71	0.31092	0.474000	0.21858	3.627000	0.39303	0.676000	0.76740	0.004000	0.16614	1.000000	0.68203	0.911000	0.44643	0.1072:0.0:0.683:0.2099	4.967	0.13443	420	0.81451	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	2349.33	34	chr11	67397249	.	G	A	2349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=800;ExcessHet=0;FS=3.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.189;SOR=0.471	GT:AD:DP:GQ:PL	0/1:88,89:177:99:2363,0,2238	18	0	1	0
chr11	67464622	67464622	C	G	exonic	TMEM134	.	nonsynonymous SNV	TMEM134:NM_001078650:exon6:c.G535C:p.E179Q,TMEM134:NM_001078651:exon7:c.G553C:p.E185Q,TMEM134:NM_025124:exon7:c.G580C:p.E194Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0169763163091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.50132	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.003220	0.35270	N	0.224693	0.91036	0.36395	D	1.245	0.31408	L	.	.	.	-1.23	0.31170	N	0.155	0.25499	-0.7864	0.55938	T	0.160	0.49463	T	9	0.291507	0.46729	T	0.016976	0.38486	T	0.172	0.43662	0.447	0.50629	0.254244900254	0.25046	0.5641181430266801	0.56338	0.42360814653	0.42814	0.578906536102	0.49932	T	0.029042	0.20900	T	-0.0954112	0.37182	T	-0.374828	0.36325	T	0.896899342536926	0.54870	D	0.922808	0.71955	D	0.23842259	0.46720	0.09580679	0.22739	0.23842259	0.46720	0.09580679	0.22738	-3.605	0.33657	T	.	.	0.477	0.65069	A	.;.	.;.	4.755848	0.76843	26.6	0.99786151433453107	0.87219	0.85004	0.44103	D	ALL	0.598761	0.59204	D	0.156503992206016	0.49119	3.116014	0.182175710316391	0.48869	3.097306	0.999999999999833	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.87	3.87	0.43823	2.469000	0.44768	7.424000	0.58739	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	11.503	0.49697	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	.	.	.	.	.	.	.	.	0.02632	431.33	33	chr11	67464622	.	C	G	431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=654;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.304;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,19:31:99:445,0,248	18	0	1	0
chr11	67666626	67666626	C	G	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon4:c.G99C:p.W33C,ALDH3B2:NM_001354345:exon5:c.G99C:p.W33C	.	424	1097	1	0	0	1	0.000455581	.	.	.	2332874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.776	0.287490691901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.505	0.98992	H	-2.02	0.85542	D	-12.02	0.99722	D	0.937	0.94314	0.904	0.95735	D	0.839	0.94631	D	10	0.9320847	0.92544	D	0.287491	0.90448	D	0.776	0.92501	0.668	0.80602	0.946269241659	0.94570	0.9423527421283183	0.94216	0.979952316233	0.73708	0.6228556633	0.56133	T	0.535801	0.84017	D	0.46441	0.93113	D	0.429317	0.93028	D	0.999887704849243	0.99524	D	0.993001	0.97720	D	0.9662851	0.97906	0.94481456	0.98078	0.9662851	0.97906	0.94481456	0.98078	-9.093	0.68292	D	.	.	0.631	0.71039	P	.;.;.;.	.;.;.;.	4.646173	0.74011	26.1	0.99049350505367251	0.51207	0.98248	0.80913	D	AEFDBI	0.749648	0.69101	D	0.77724526802078	0.84666	8.351425	0.590285967945317	0.74241	6.10382	0.999999831664426	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.07	4.07	0.46726	4.883000	0.62820	7.322000	0.58169	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.472000	0.28386	0.1687:0.8313:0.0:0.0	12.423	0.54867	774	0.48577	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	34	chr11	67666626	.	C	G	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=1028;ExcessHet=0;FS=1.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.289;SOR=0.877	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1167,0,1706	18	0	1	0
chr11	69296010	69296010	G	A	exonic	MYEOV	.	nonsynonymous SNV	MYEOV:NM_001293294:exon2:c.G386A:p.R129Q,MYEOV:NM_001293296:exon2:c.G386A:p.R129Q,MYEOV:NM_001300924:exon2:c.G386A:p.R129Q,MYEOV:NM_001293291:exon3:c.G560A:p.R187Q,MYEOV:NM_001300923:exon3:c.G386A:p.R129Q,MYEOV:NM_138768:exon3:c.G560A:p.R187Q	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00210690905787	.	0.00139776	0.0012	9.612e-05	0.0002	0	0	0.0001	0.0022	0.0079	0.0009896	153	154602	rs200177645	0.0006	0.0006	0.0003	0.0009	0.0087	0.0006	0.0005	0.0082	0.0080	5.974e-05	4.473e-05	0	0	0	0.0033	4.946e-05	0.0006	0.0087	0.0003	0.0003	0.0002	0.0005	0.0087	0.0002	0.0002	0.0066	0.0059	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0087	.	.	.	.	.	.	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.84	0.24841	T	-3.69	0.70432	D	0.059	0.03726	-1.0156	0.25143	T	0.028	0.11838	T	9	0.0037336946	0.00069	T	0.002107	0.03908	T	0.049	0.13647	0.265	0.21103	0.0138822411134	0.00435	0.022432533154522878	0.02195	0.0779199742432	0.08771	0.206845760345	0.00685	T	0.018351	0.14809	T	-0.710506	0.00032	T	-0.788242	0.02213	T	0.0127332898869277	0.00215	T	0.505949	0.15996	T	0.32971525	0.55448	0.16151944	0.37565	0.32971525	0.55448	0.16151944	0.37564	-4.488	0.30731	T	.	.	0.105	0.20117	B	.;.;.	.;.;.	0.517025	0.08858	5.637	0.44544677041443209	0.03432	0.00579	0.02613	N	AEFDBHCI	0.033071	0.03856	N	-1.22084020928438	0.04699	0.2126061	-1.31319988209973	0.04259	0.2004842	0.999999164441449	0.74766	0.50712	0.20391	0	0.681609	0.65952	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	1.71	-1.43	0.08418	-0.244000	0.08921	-0.405000	0.09385	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5827:0.0:0.4173:0.0	5.010	0.13651	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	3635.83	33	chr11	69296010	.	G	A	3635.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.9;DP=1792;ExcessHet=0.119;FS=3.333;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.765;SOR=0.912	GT:AD:DP:GQ:PL	0/1:87,68:155:99:2012,0,2322	17	0	2	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05263	3066.83	45	chr11	74835878	.	G	T	3066.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=856;ExcessHet=0.119;FS=6.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.187;SOR=0.389	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1282,0,1428	17	0	2	0
chr11	77204105	77204105	T	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon39:c.T5356A:p.S1786T,MYO7A:NM_001127180:exon39:c.T5242A:p.S1748T,MYO7A:NM_001369365:exon40:c.T5209A:p.S1737T	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	175518	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.281669031188	8e-05	0.000199681	0.0002	0.0002	0	0	0	0.0003	0	0	0.0001035	16	154602	rs374576916	7.659e-05	7.661e-05	5.756e-05	9.588e-05	0.0021	6.479e-05	6.056e-05	0.0012	0.0009	0.0005	0.0001	0	0	0	0.0021	6.056e-05	0.0001	2.396e-05	0.0001	0.0001	0.0001	9.403e-05	0.0001	7.089e-05	5.746e-05	6.807e-05	5.09e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.181	0.21968	T	0.143	0.33330	T	0.002	0.09854	B	0.008	0.13708	B	0.000023	0.55875	D	0.160766	0.999999	0.58761	D	2.015	0.55033	M	-2.31	0.87989	D	-2.42	0.53096	N	0.678	0.71854	-0.1658	0.78530	T	0.549	0.83455	D	10	0.27296865	0.44844	T	0.281669	0.90253	D	0.373	0.69188	.	.	0.90710961093	0.90618	0.5090445675568805	0.50826	0.104901053981	0.11863	0.702617645264	0.67522	T	0.43352	0.78092	T	-0.0957659	0.37124	T	-0.138669	0.60232	T	0.0662984603471042	0.08122	T	0.911109	0.69109	D	0.487829	0.66373	0.23346925	0.48537	0.49626398	0.66876	0.2590678	0.51648	-3.959	0.27712	T	0.1588398418633976	0.19274	0.208	0.45942	B	.;.;.;.	.;.;.;.	3.275482	0.44858	22.0	0.96509559955282387	0.30072	0.96055	0.67329	D	AEFDBI	0.839089	0.75653	D	-0.00985272061486092	0.41408	2.47627	0.0921631078912919	0.44154	2.702657	0.614528018772539	0.21832	0.553676	0.25195	0	0.610034	0.51514	0	0.603688	0.36954	0	0.620846	0.47308	0	.	.	4.69	3.56	0.39892	7.573000	0.81745	6.168000	0.54445	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.081:0.0:0.919	10.033	0.41282	675	0.60470	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	0.005035	0.005051	0.009511	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1648.33	42	chr11	77204105	.	T	A	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=772;ExcessHet=0;FS=3.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.821;SOR=0.992	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1662,0,1461	18	0	1	0
chr11	77217308	77217308	-	GAGTA	exonic	GDPD4	.	frameshift insertion	GDPD4:NM_182833:exon17:c.1531_1532insTACTC:p.Q511Lfs*14	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs758101540	8.196e-05	8.484e-05	6.86e-05	9.543e-05	0.0009	6.982e-05	6.531e-05	0.0004	0.0004	0	6.71e-05	7.666e-05	2.522e-05	0	0.0009	4.715e-05	0.0002	0.0005	7.884e-05	7.88e-05	5.138e-05	0.0001	0.0002	4.496e-05	3.512e-05	5.841e-05	4.239e-05	2.413e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1065.29	44	chr11	77217308	.	T	TGAGTA	1065.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=782;ExcessHet=0;FS=4.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.474;SOR=0.223	GT:AD:DP:GQ:PL	0/1:32,28:60:99:1079,0,1253	18	0	1	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-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	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	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	.	.	.	.	.	.	.	.	0.07895	293.79	41	chr11	90086557	.	G	C	293.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.677;DP=682;ExcessHet=0.3672;FS=67.377;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.9;MQRankSum=-0.793;QD=3.19;ReadPosRankSum=1.79;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:32:0|1:90086557_G_C:32,0,941:90086557	16	0	3	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|1:18,11:29:99:0|1:90086557_G_C:142,0,428:90086557	7	0	5	7
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	305.57	36	chr11	90086559	.	T	C	305.57	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.422;DP=738;ExcessHet=0.3672;FS=79.824;InbreedingCoeff=-0.1128;MLEAC=3;MLEAF=0.083;MQ=34.27;MQRankSum=-0.793;QD=3.15;ReadPosRankSum=1.77;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:32:0|1:90086557_G_C:32,0,941:90086557	15	0	3	1
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	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	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.07895	5947.79	34	chr11	94104605	.	C	A	5947.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.34;DP=1086;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.578;SOR=0.68	GT:AD:DP:GQ:PL	0/1:105,73:178:99:1644,0,2453	16	0	3	0
chr11	96093478	96093478	A	T	exonic	MAML2	.	nonsynonymous SNV	MAML2:NM_032427:exon2:c.T553A:p.S185T	Mucoepidermoid salivary gland carcinoma (3)	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.019740264582	0.0002	0.000798722	0.0006	0	0.0003	0.0001	0	0.0002	0	0.0031	0.000511	79	154602	rs112561533	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0025	0.0024	5.979e-05	0.0007	0	0	0	0.0035	0.0002	0.0008	0.0028	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0	0	0.0005	0	0	0	0.0102	0.0003	0.0005	0.0031	0.015	0.52492	D	0.786	0.23707	T	0.456	0.36269	P	0.068	0.27651	B	0.020291	0.27071	N	0.313567	0.994	0.23644	N	2.16	0.60381	M	-0.16	0.65378	T	-2.01	0.46337	N	0.249	0.28146	-0.9517	0.40678	T	0.154	0.48412	T	10	0.010164976	0.00227	T	0.01974	0.42178	T	0.058	0.16647	.	.	0.500690566029	0.49707	0.41192393387336534	0.41108	0.254004967463	0.27969	0.433173954487	0.29642	T	0.31822	0.71911	T	-0.388604	0.02747	T	-0.335283	0.40877	T	0.0147177972826394	0.00306	T	0.60064	0.22426	T	0.1419236	0.32683	0.12597318	0.30345	0.1419236	0.32682	0.12597318	0.30344	-5.173	0.38666	T	.	.	0.100	0.27821	B	.;.	.;.	1.617734	0.20668	14.85	0.97805215975248527	0.36091	0.91415	0.53487	D	AEFBI	0.156397	0.28175	N	-0.093845232112369	0.37661	2.194402	-0.00953289959923829	0.39284	2.326812	0.997398562287705	0.35572	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.14	3.97	0.45241	0.825000	0.27047	3.957000	0.40718	0.756000	0.94297	0.691000	0.28541	1.000000	0.68203	0.995000	0.73285	0.7642:0.1576:0.0782:0.0	6.546	0.21603	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	0.003532	0.000000	0.004076	0.011834	0.000000	0.000000	0.000000	0.003788	0.02632	1323.33	40	chr11	96093478	.	A	T	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=826;ExcessHet=0;FS=4.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-1.253;SOR=0.371	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1337,0,975	18	0	1	0
chr11	102331167	102331167	T	G	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.T1250G:p.V417G,BIRC3:NM_182962:exon7:c.T1250G:p.V417G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0750554179024	.	.	1.653e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs779461718	6.842e-06	6.84e-06	5.447e-06	8.252e-06	0.0003	3.46e-06	2.52e-06	9.756e-05	6.955e-05	0.0002	2.237e-05	0	0	0	0.0003	0	0	0	3.286e-05	3.283e-05	1.285e-05	5.38e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.016	0.51853	D	0.001	0.83351	D	0.955	0.54515	P	0.774	0.57014	P	0.000004	0.62929	D	0.105421	1	0.81001	D	2.34	0.67151	M	1.62	0.28189	T	-5.87	0.88630	D	0.654	0.68690	-0.6358	0.63324	T	0.190	0.54213	T	10	0.84608155	0.83774	D	0.075055	0.72193	D	0.508	0.78848	.	.	0.832705769219	0.83112	0.818859214115156	0.81842	1.04814267846	0.76033	0.470021396875	0.34683	T	0.587737	0.86598	D	0.0403812	0.57097	T	0.0996634	0.76885	D	0.968274652957916	0.68188	D	0.663034	0.27207	T	0.6524137	0.75493	0.53749514	0.73273	0.6524137	0.75494	0.53749514	0.73273	-14.688	0.95078	D	.	.	0.907	0.83252	P	.;.;.	.;.;.	3.991694	0.58755	24.0	0.99315673813189043	0.59166	0.96621	0.70062	D	AEFBCI	0.913021	0.87443	D	0.58195537271134	0.72050	5.744951	0.489618846149146	0.67302	5.065631	0.99999999936641	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.904000	0.86152	7.874000	0.72122	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.081000	0.17303	0.0:0.0:0.0:1.0	15.440	0.74900	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	869.33	33	chr11	102331167	.	T	G	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.822;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.059;SOR=0.739	GT:AD:DP:GQ:PL	0/1:28,32:60:99:883,0,782	18	0	1	0
chr11	102721703	102721703	G	T	exonic	MMP8	.	nonsynonymous SNV	MMP8:NM_002424:exon3:c.C407A:p.A136D,MMP8:NM_001304441:exon4:c.C338A:p.A113D,MMP8:NM_001304442:exon4:c.C338A:p.A113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.0806171536836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753271060	4.105e-06	4.104e-06	4.085e-06	4.126e-06	2.239e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.239e-05	0	0	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	1	0.81001	D	4.31	0.98302	H	0.96	0.42888	T	-5.86	0.88561	D	0.905	0.90590	0.757	0.93876	D	0.718	0.90324	D	10	0.99108595	0.99627	D	0.080617	0.73501	D	0.588	0.83526	0.933	0.98990	0.649768434623	0.64686	0.8849216068715038	0.88461	0.326156800861	0.34764	0.514827013016	0.40898	T	0.395331	0.75424	T	0.205791	0.74434	D	0.140694	0.79589	D	0.999506115913391	0.97675	D	0.917708	0.70434	D	0.9887394	0.99697	0.9614993	0.99051	0.9887394	0.99697	0.9614993	0.99052	-13.398	0.90936	D	.	.	0.963	0.88480	P	.	.	3.825871	0.55270	23.6	0.99701290500080231	0.80660	0.96946	0.71809	D	AEFGBHCI	0.898581	0.84203	D	0.577686852084107	0.71784	5.703778	0.506628557204648	0.68434	5.219652	0.999999999997464	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	6.212000	0.72128	7.549000	0.60236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	19.323	0.94236	707	0.57054	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	.	.	.	.	.	.	.	.	0.02632	984.33	37	chr11	102721703	.	G	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.134;DP=806;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.65;SOR=0.399	GT:AD:DP:GQ:PL	0/1:52,37:89:99:998,0,1622	18	0	1	0
chr11	104897371	104897371	C	T	exonic	CASP12	.	unknown	UNKNOWN	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs555367	0.0010	0.0009	0.0011	0.0009	0.0318	0.0009	0.0009	0.0302	0.0295	0.0318	0.0027	0	0	0	0.0012	8.349e-05	0.0027	8.854e-05	0.0093	0.0093	0.0093	0.0092	0.0318	0.0089	0.0087	0.0304	0.0298	0.0318	0	0.0046	0	0	0	0	7.351e-05	0.0066	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	2066.33	33	chr11	104897371	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.466;DP=814;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.811;SOR=0.468	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2080,0,2058	18	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	G	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,52:153:99:0|1:106010659_C_G:1001,0,3766:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,52:155:99:0|1:106010659_C_G:995,0,3814:106010659	1	0	10	8
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	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	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.1364	1642.33	203	chr11	106010663	.	C	G	1642.33	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-4.095;DP=2463;ExcessHet=0.3672;FS=251.882;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.04;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,52:159:99:0|1:106010659_C_G:984,0,3899:106010659	8	0	3	8
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	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	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.1667	1643.52	203	chr11	106010664	.	A	G	1643.52	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.742;DP=2434;ExcessHet=0.3672;FS=249.098;InbreedingCoeff=-0.2683;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.14;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,52:159:99:0|1:106010659_C_G:984,0,3899:106010659	6	0	3	10
chr11	108173026	108173026	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon13:c.C1958T:p.A653V,NPAT:NM_002519:exon13:c.C1958T:p.A653V	.	.	.	.	.	.	.	.	.	.	.	2467820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00401281595849	.	.	8.361e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs755872803	2.737e-06	2.736e-06	2.723e-06	2.751e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.31	0.19721	T	0.009	0.15093	B	0.008	0.13708	B	0.117743	0.19140	N	0.555490	1	0.08975	N	0	0.06538	N	3.75	0.03922	T	-0.31	0.12099	N	0.033	0.00882	-0.9399	0.42632	T	0.009	0.03054	T	10	0.03440264	0.01648	T	0.004013	0.09525	T	0.083	0.24192	0.056	0.00156	0.156986980423	0.15292	0.1386597472910516	0.13788	0.0477508610535	0.05213	0.23365816474	0.02249	T	0.029604	0.21175	T	-0.400756	0.02289	T	-0.71658	0.04963	T	0.0717512822366278	0.08895	T	0.439856	0.12136	T	0.038734376	0.05218	0.06127249	0.11804	0.038734376	0.05218	0.06127249	0.11804	-2.72	0.07472	T	.	.	0.072	0.04238	B	.	.	1.648625	0.21035	15.02	0.99196661606674452	0.55142	0.13603	0.17949	N	AEFBI	0.044114	0.07058	N	-0.670068978830661	0.16878	0.8637917	-0.553675797420846	0.20709	1.116946	0.0245109711893673	0.13583	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.08	4.22	0.49153	1.449000	0.34734	2.534000	0.33182	0.676000	0.76740	0.003000	0.16062	0.084000	0.22431	0.896000	0.43308	0.2403:0.0:0.7597:0.0	8.992	0.35189	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1414.33	33	chr11	108173026	.	G	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.229;DP=808;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.584;SOR=0.52	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1428,0,1798	18	0	1	0
chr11	113944632	113944632	T	G	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon7:c.T934G:p.L312V,HTR3B:NM_006028:exon8:c.T967G:p.L323V	.	418	1091	12	1	0	14	0.00637523	.	.	.	701564	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0580003210186	0.0028	0.00159744	0.0032	0.0005	0.0025	0	0.0005	0.0039	0.0022	0.0056	0.0033505	518	154602	rs78418698	0.0042	0.0042	0.0041	0.0042	0.0046	0.0041	0.0040	0.0045	0.0044	0.0005	0.0034	0.0061	2.519e-05	0.0004	0.0033	0.0046	0.0043	0.0045	0.0032	0.0032	0.0033	0.0030	0.0050	0.0029	0.0028	0.0042	0.0040	0.0007	0	0.0047	0.0058	0.0002	0.0010	0	0.0046	0.0043	0.0050	0.167	0.23271	T	0.393	0.15355	T	0.046	0.21875	B	0.083	0.29179	B	0.000454	0.44317	N	0.153018	0.999066	0.21661	N	-0.01	0.05129	N	-1.06	0.76819	T	-0.04	0.07590	N	0.163	0.17140	-0.8433	0.52426	T	0.172	0.51373	T	10	0.0069458187	0.00158	T	0.058	0.67166	D	0.195	0.47612	.	.	0.434606191737	0.43079	0.4094563710630575	0.40861	0.187746169235	0.21096	0.372855424881	0.21241	T	0.07971	0.36192	T	-0.464168	0.00925	T	-0.43691	0.29154	T	0.0115888405804335	0.00176	T	0.710329	0.33361	T	0.05612095	0.10997	0.10945402	0.26379	0.05612095	0.10997	0.10945402	0.26379	-3.49	0.21824	T	.	.	0.096	0.19398	B	.;.	.;.	-0.630864	0.01489	0.093	0.68322907402208999	0.08623	0.03706	0.08988	N	AEFBI	0.071391	0.14210	N	-1.77048599265315	0.00621	0.02678996	-1.82427643567332	0.00684	0.03046396	0.395939168873913	0.20088	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	-7.72	0.01112	-0.749000	0.04918	-1.581000	0.05125	-0.717000	0.03845	0.006000	0.17386	0.000000	0.08366	0.147000	0.20199	0.0:0.6568:0.1315:0.2117	11.757	0.51148	903	0.23940	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1686.33	33	chr11	113944632	.	T	G	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=804;ExcessHet=0;FS=1.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.637;SOR=0.86	GT:AD:DP:GQ:PL	0/1:91,67:158:99:1700,0,2419	18	0	1	0
chr11	120127443	120127443	C	G	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.G244C:p.V82L,TRIM29:NM_012101:exon3:c.G1027C:p.V343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00926784353697	0.0010	.	0.0005	0.0002	0.0002	0	0.0002	0.0008	0	0.0006	0.0005433	84	154602	rs146343820	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0008	0.0010	0.0010	0.0001	0.0008	3.826e-05	0	0	0.0002	0.0011	0.0007	0.0006	0.0007	0.0007	0.0006	0.0008	0.0018	0.0006	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0	0.0002	0	0.0009	0	0.0008	0.066	0.51853	T	0.031	0.53788	D	0.056	0.22806	B	0.018	0.18489	B	0.006505	0.31983	N	0.220732	0.711737	0.35761	D	0.695	0.17993	N	1.3	0.35590	T	-1.5	0.38151	N	0.51	0.58458	-1.0487	0.14761	T	0.050	0.21182	T	9	0.03489086	0.01715	T	0.009268	0.24343	T	0.087	0.25287	0.462	0.53079	0.35139820857	0.34749	0.7067975726513646	0.70621	0.222260903106	0.24760	0.379968464375	0.22252	T	0.029629	0.24692	T	-0.410044	0.01986	T	-0.442302	0.28552	T	0.0250724961120335	0.01282	T	0.822218	0.48193	T	0.13121326	0.30592	0.13110828	0.31489	0.13121326	0.30592	0.13110828	0.31488	-2.717	0.07447	T	.	.	0.557	0.69448	A	.;.	.;.	2.354182	0.30184	18.36	0.99269781760206488	0.57525	0.66968	0.33264	D	AEFDBHCI	0.266995	0.38379	N	-0.402862449352135	0.25368	1.376612	-0.24964609624614	0.29784	1.671489	0.999997266783617	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.14	4.23	0.49319	0.455000	0.21555	1.421000	0.26364	0.599000	0.40250	0.351000	0.25767	0.823000	0.27144	0.990000	0.65344	0.0:0.7621:0.0:0.2379	8.188	0.30511	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	.	.	.	.	.	.	.	.	0.02632	2427.33	33	chr11	120127443	.	C	G	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=865;ExcessHet=0;FS=0.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.807;SOR=0.652	GT:AD:DP:GQ:PL	0/1:131,96:227:99:2441,0,3268	18	0	1	0
chr11	124023688	124023688	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C676T:p.R226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00181638638885	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs770016884	1.026e-05	1.026e-05	8.168e-06	1.238e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-06	0	5.797e-05	6.577e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.832	0.59730	P	0.627629	0.10718	N	0.805161	1	0.08975	N	3.655	0.94224	H	8.37	0.00247	T	-5.79	0.88065	D	0.266	0.30118	-0.9544	0.40203	T	0.002	0.00585	T	10	0.28207338	0.45786	T	0.001816	0.03115	T	0.070	0.20419	0.432	0.48171	0.652918622136	0.65003	0.3873138145812285	0.38646	0.909016350626	0.70977	0.186228781939	0.00165	T	0.009129	0.08331	T	-0.28781	0.09858	T	-0.448541	0.27859	T	0.699711727448611	0.40705	D	0.367163	0.08573	T	0.23927706	0.46816	0.2424058	0.49661	0.23927706	0.46816	0.2424058	0.49660	-7.049	0.54390	T	.	.	0.178	0.38889	B	.	.	2.986991	0.39860	21.1	0.99727385111650657	0.82477	0.07250	0.13273	N	AEFDI	0.097194	0.19607	N	-0.084404063653568	0.38076	2.224597	-0.312471543910937	0.27695	1.538649	2.99771349585806E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.44	2.3	0.27735	-0.031000	0.12237	-2.091000	0.04227	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8014:0.1986:0.0:0.0	9.014	0.35321	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6358.33	43	chr11	124023688	.	C	T	6358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=3391;ExcessHet=0;FS=4.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.991;QD=18.65;ReadPosRankSum=0.597;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,168:341:99:0|1:124023688_C_T:6372,0,6527:124023688	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	0/1:29,26:55:99:1003,0,1113	11	2	6	0
chr11	134153139	134153139	C	T	splicing	NCAPD3	NM_015261:exon34:c.4388+1G>A;NM_001372069:exon33:c.3974+1G>A;NM_001372070:exon36:c.3974+1G>A;NM_001372068:exon34:c.4388+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.948	YES	3224899	Microcephaly_22,_primary,_autosomal_recessive	MONDO:MONDO:0054805,MedGen:C4693834,OMIM:617984	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164631127	4.106e-06	4.104e-06	6.808e-06	1.375e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326645	0.84935	D	0.231427	0.84737	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.021254	0.83447	28.0	0.99188025479285136	0.54877	0.83033	0.42186	D	AEFBCI	.	.	.	1.02883194925529	0.96563	14.85152	0.864004524301471	0.93806	12.294	0.998500584792933	0.37090	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.240291	0.04720	0	0.976461	0.79721	5.77	5.77	0.91077	3.563000	0.53529	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.338000	0.25386	0.0:0.9265:0.0:0.0735	13.207	0.59229	684	0.59539	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	36	chr11	134153139	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=795;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.29;SOR=0.916	GT:AD:DP:GQ:PL	0/1:93,70:163:99:1782,0,2437	18	0	1	0
chr12	2677831	2677831	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129838:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129839:exon40:c.G5073C:p.E1691D,CACNA1C:NM_001129846:exon40:c.G5022C:p.E1674D,CACNA1C:NM_001167625:exon40:c.G5022C:p.E1674D,CACNA1C:NM_000719:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129829:exon41:c.G5178C:p.E1726D,CACNA1C:NM_001129830:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129833:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129834:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129835:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129836:exon41:c.G5106C:p.E1702D,CACNA1C:NM_001129840:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129841:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129842:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129843:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129844:exon41:c.G5046C:p.E1682D,CACNA1C:NM_001167623:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001167624:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129831:exon42:c.G5139C:p.E1713D,CACNA1C:NM_001129832:exon42:c.G5115C:p.E1705D,CACNA1C:NM_001129827:exon43:c.G5199C:p.E1733D,CACNA1C:NM_199460:exon43:c.G5199C:p.E1733D	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.0984370134189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.40573	T	0.062	0.52389	T	0.808	0.63424	P	0.275	0.74454	B	0.957208	0.08248	N	0.976724	0.999467	0.47157	D	2.315	0.66250	M	-4.09	0.96772	D	-1.94	0.45042	N	0.485	0.56748	0.719	0.93405	D	0.898	0.96605	D	10	0.30664805	0.48173	T	0.098437	0.76941	D	0.516	0.79340	0.341	0.33302	0.854859035509	0.85346	0.6617621861880766	0.66113	0.178138410409	0.20040	0.75000667572	0.74447	T	0.010745	0.22062	T	0.187027	0.72690	D	0.0308744	0.72336	D	0.197412386536598	0.20272	T	.	.	.	.	.	.	.	.	.	.	.	-7.769	0.59485	D	.	.	0.322	0.62271	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.174263	0.43060	21.7	0.99057970756030855	0.51413	0.94609	0.61725	D	AEFBI	0.641712	0.61894	D	0.0269888870314487	0.43085	2.608398	0.0573250786890299	0.42425	2.56599	0.0455334280670845	0.14656	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.64	0.40864	1.574000	0.36091	1.450000	0.26598	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1963:0.0:0.8037:0.0	6.835	0.23115	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	272.2	35	chr12	2677831	.	G	C	272.2	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.342;DP=2053;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.59;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,29:129:99:0|1:2677831_G_C:161,0,3095:2677831	12	0	2	5
chr12	2677832	2677832	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129838:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129839:exon40:c.G5074C:p.A1692P,CACNA1C:NM_001129846:exon40:c.G5023C:p.A1675P,CACNA1C:NM_001167625:exon40:c.G5023C:p.A1675P,CACNA1C:NM_000719:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129829:exon41:c.G5179C:p.A1727P,CACNA1C:NM_001129830:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129833:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129834:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129835:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129836:exon41:c.G5107C:p.A1703P,CACNA1C:NM_001129840:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129841:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129842:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129843:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129844:exon41:c.G5047C:p.A1683P,CACNA1C:NM_001167623:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001167624:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129831:exon42:c.G5140C:p.A1714P,CACNA1C:NM_001129832:exon42:c.G5116C:p.A1706P,CACNA1C:NM_001129827:exon43:c.G5200C:p.A1734P,CACNA1C:NM_199460:exon43:c.G5200C:p.A1734P	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.168125990135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27904	T	0.324	0.19016	T	0.001	0.53992	B	0.004	0.55764	B	0.955475	0.08259	N	0.975185	0.99874	0.45372	D	0.51	0.13489	N	-3.91	0.96277	D	-1.11	0.33798	N	0.194	0.30233	0.566	0.91455	D	0.862	0.95418	D	10	0.1827906	0.33575	T	0.168126	0.84631	D	0.312	0.63375	0.359	0.36222	0.526448013984	0.52292	0.8296726985909174	0.82925	0.247068042511	0.27244	0.755146980286	0.75208	T	0.009692	0.20449	T	0.0676861	0.60565	T	-0.14055	0.60069	T	0.401444281778735	0.28996	T	.	.	.	.	.	.	.	.	.	.	.	-12.063	0.87069	D	.	.	0.947	0.89314	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.226746	0.63974	24.6	0.97515105936428548	0.34373	0.94381	0.60984	D	AEFBI	0.849904	0.76673	D	-0.213977285304823	0.32560	1.837526	-0.0751978937003241	0.36420	2.119189	0.803149056102645	0.24221	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	4.245000	0.58529	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.639	0.88034	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	268.58	35	chr12	2677832	.	G	C	268.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.428;DP=1562;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.58;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,29:129:99:0|1:2677831_G_C:161,0,3095:2677831	16	0	2	1
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,39:86:99:.:.:403,0,562:.	5	0	14	0
chr12	6620294	6620294	T	C	exonic	LPAR5	.	nonsynonymous SNV	LPAR5:NM_001142961:exon2:c.A955G:p.T319A,LPAR5:NM_020400:exon2:c.A955G:p.T319A	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0042	0.0175719	0.0090	0.0173	0.0011	0.0208	0	0.0006	0.0064	0.0352	0.0065911	1019	154602	rs115447074	0.0031	0.0031	0.0023	0.0039	0.0312	0.0030	0.0030	0.0302	0.0298	0.0175	0.0008	0.0019	0.0151	0	0.0070	0.0002	0.0048	0.0312	0.0064	0.0065	0.0060	0.0069	0.0347	0.0061	0.0060	0.0304	0.0288	0.0159	0	0.0019	0.0023	0.0170	0	0.0034	0.0003	0.0057	0.0347	0.429	0.09572	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005433	0.32805	N	0.121317	1	0.08975	N	1.67	0.42885	L	1.25	0.36512	T	-0.48	0.15379	N	0.033	0.00882	-1.0438	0.16177	T	0.021	0.08917	T	10	0.0022586882	0.00033	T	.	.	.	0.030	0.07022	.	.	0.1749357433	0.17121	0.5690130985397663	0.56829	0.536398855635	0.50972	0.396587699652	0.24594	T	0.015667	0.13095	T	-0.692226	0.00041	T	-0.742044	0.03805	T	0.000698110342982242	0.00006	T	0.29917	0.05580	T	0.031352475	0.02959	0.039061654	0.03914	0.031352475	0.02958	0.039061654	0.03913	-2.288	0.04490	T	.	.	0.060	0.01126	B	.;.	.;.	0.713901	0.10826	7.508	0.43766780771023789	0.03318	0.10966	0.16316	N	AEFDBHCI	0.068639	0.13550	N	-1.10176461099149	0.06612	0.304864	-1.1077629270215	0.07551	0.3677291	0.999998840050572	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.84	0.782	0.17712	0.059000	0.14199	0.677000	0.20646	0.519000	0.23678	0.000000	0.06391	0.057000	0.21958	0.026000	0.12556	0.0:0.1799:0.2086:0.6115	4.976	0.13489	350	0.85473	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006079	0.000000	0.008152	0.005882	0.000000	0.000000	0.003086	0.015152	0.02632	804.33	33	chr12	6620294	.	T	C	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=685;ExcessHet=0;FS=7.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.94;SOR=0.542	GT:AD:DP:GQ:PL	0/1:26,33:59:99:818,0,685	18	0	1	0
chr12	6667903	6667903	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1196_1197insGCA:p.Q400_P401insQ,ZNF384:NM_133476:exon10:c.1361_1362insGCA:p.Q455_P456insQ,ZNF384:NM_001135734:exon11:c.1544_1545insGCA:p.Q516_P517insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0164	0.0019	0.0026	0.0041	0.0048	0.0050	0.0070	0.0001921	5	26028	rs764078071	0.0061	0.0059	0.0060	0.0061	0.0242	0.0060	0.0059	0.0227	0.0222	0.0242	0.0026	0.0021	0.0020	0.0058	0.0059	0.0058	0.0063	0.0079	0.0097	0.0098	0.0094	0.0100	0.0215	0.0093	0.0091	0.0203	0.0198	0.0215	0	0.0052	0.0023	0.0022	0.0062	0.0035	0.0053	0.0103	0.0086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	35273.8	64	chr12	6667903	.	T	TTGC	35273.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=1937;ExcessHet=0.0107;FS=3.092;InbreedingCoeff=0.4747;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=33.88;ReadPosRankSum=-0.4;SOR=0.59	GT:AD:DP:GQ:PL	0/1:5,24:64:99:1793,990,1170	18	0	1	0
chr12	7089623	7089623	C	G	exonic	C1R	.	nonsynonymous SNV	C1R:NM_001354346:exon4:c.G577C:p.G193R,C1R:NM_001733:exon4:c.G535C:p.G179R	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.890	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318448209	1.591e-06	1.59e-06	0	2.92e-06	1.433e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.433e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	1	0.81001	D	.	.	.	-4.83	0.98213	D	-7.3	0.95336	D	0.77	0.80180	1.100	0.99658	D	0.961	0.98759	D	9	0.98777866	0.99161	D	.	.	.	0.890	0.96836	0.888	0.97226	0.951856303439	0.95134	0.8264739489347458	0.82605	.	.	0.536666691303	0.43975	T	0.69893	0.94904	D	0.34344	0.86065	D	0.352405	0.90412	D	0.997045576572418	0.90642	D	0.982102	0.95374	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.66786	A	.;.;.;.;.;.	.;.;.;.;.;.	4.513555	0.70700	25.6	0.99911738089821978	0.98095	0.96224	0.68106	D	AEFDBCI	0.926540	0.90781	D	0.42281277829279	0.62679	4.487786	0.371547035143557	0.59815	4.16283	0.999999999138922	0.74766	0.643511	0.44296	0	0.670034	0.63936	0	0.688494	0.62686	0	0.616125	0.45549	0	.	.	5.55	4.66	0.57857	6.731000	0.74591	7.687000	0.65600	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.547000	0.30103	0.0:0.9281:0.0:0.0718	14.241	0.65503	625	0.65529	.;.;EGF-like, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|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	.	.	.	.	.	.	.	.	0.02632	3208.33	35	chr12	7089623	.	C	G	3208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.336;DP=1026;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.942;SOR=0.647	GT:AD:DP:GQ:PL	0/1:96,136:232:99:3222,0,2303	18	0	1	0
chr12	7190513	7190602	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	1	1242	33	243	3	522	0.172827	.	.	.	1101393	not_provided|PEX5-related_disorder|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|.|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0.0004	0.0041	0.0005	0.0005	0.0014	0.0011	3.84e-05	1	26028	.	0.0006	0.0006	0.0005	0.0006	0.0065	0.0005	0.0005	0.0059	0.0056	0.0003	0.0007	7.67e-05	0.0065	0.0007	0.0004	0.0003	0.0010	0.0009	0.0018	0.0013	0.0019	0.0018	0.0130	0.0016	0.0015	0.0098	0.0087	0.0005	0	0.0034	0	0.0130	0.0008	0.0090	0.0017	0.0016	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	0/1:22,36:58:99:383,0,870	18	0	1	0
chr12	7403834	7403834	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon6:c.G1139A:p.R380Q,CD163L1:NM_174941:exon6:c.G1109A:p.R370Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00276024104916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018713007	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.829e-05	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.49117	D	0.049	0.48336	D	0.369	0.34063	B	0.046	0.24676	B	.	.	.	.	0.994731	0.23454	N	3.245	0.89746	M	0.63	0.53088	T	-2.42	0.73684	N	0.31	0.35514	-0.8761	0.50067	T	0.157	0.48908	T	9	0.35790735	0.52496	T	0.00276	0.05723	T	0.137	0.36984	0.496	0.58520	0.581344535356	0.57806	0.8108406574809643	0.81039	0.342104402835	0.36142	0.357345104218	0.18998	T	0.121712	0.44487	T	-0.0658128	0.41995	T	-0.332312	0.41212	T	0.441490082498932	0.30484	T	0.784922	0.56163	T	0.05565821	0.10847	0.060473993	0.11521	0.05565821	0.10847	0.060473993	0.11521	-5.845	0.46305	T	.	.	0.178	0.48039	B	.;.;.	.;.;.	1.601657	0.20476	14.77	0.99700544022188564	0.80591	0.41621	0.26698	N	AEFBI	0.276509	0.39123	N	-0.572176222611046	0.19794	1.038719	-0.777454469223093	0.15048	0.789478	0.00242375897210103	0.09418	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	1.85	0.942	0.18648	1.416000	0.34366	4.055000	0.41540	-0.271000	0.06739	0.001000	0.13787	0.221000	0.23714	0.215000	0.22324	0.0:0.832:0.0:0.168	6.598	0.21879	871	0.31377	SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR-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	.	.	.	.	.	.	.	.	0.02632	2219.33	39	chr12	7403834	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.599;DP=779;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.457;SOR=0.485	GT:AD:DP:GQ:PL	0/1:72,84:156:99:2233,0,1763	18	0	1	0
chr12	10909081	10909081	A	T	exonic	TAS2R13	.	nonsynonymous SNV	TAS2R13:NM_023920:exon1:c.T218A:p.L73Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00252496509176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.288	0.21144	T	0.038	0.21002	B	0.103	0.30945	B	0.974799	0.07802	U	1.014980	1	0.08975	N	0.225	0.09600	N	1.23	0.36872	T	0.95	0.01509	N	0.147	0.14905	-0.9567	0.39789	T	0.061	0.25492	T	10	0.073278815	0.11049	T	0.002525	0.05037	T	0.042	0.11227	0.533	0.64148	0.171220215726	0.16700	0.027255507470469464	0.02675	0.0160503617592	0.01538	0.237141251564	0.02538	T	0.015996	0.13307	T	-0.211553	0.19161	T	-0.541657	0.18134	T	0.0962587748026742	0.11940	T	.	.	.	0.09235622	0.21664	0.079499185	0.17902	0.09235622	0.21664	0.079499185	0.17902	-2.498	0.05767	T	.	.	0.083	0.09045	B	.	.	0.230311	0.06116	2.561	0.75778898039463327	0.11208	0.02405	0.06810	N	AEFHCI	0.031011	0.03231	N	-1.10122060801746	0.06622	0.3053517	-1.17601128088607	0.06312	0.3034591	0.0698830030352836	0.15505	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.503917	0.08554	0	.	.	3.3	0.059	0.13643	-0.964000	0.03943	-2.606000	0.03556	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.278:0.232:0.49:0.0	3.117	0.05996	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1804.33	41	chr12	10909081	.	A	T	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=883;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.632;SOR=0.784	GT:AD:DP:GQ:PL	0/1:98,70:168:99:1818,0,2466	18	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	1/1:2,12:14:99:3836,382,0	5	3	2	9
chr12	13088043	13088043	G	A	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001367364:exon4:c.C553T:p.P185S,GSG1:NM_031289:exon4:c.C514T:p.P172S,GSG1:NM_001080554:exon5:c.C622T:p.P208S,GSG1:NM_001367358:exon5:c.C622T:p.P208S,GSG1:NM_001367361:exon5:c.C694T:p.P232S	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00419329	0.0021	0	0.0002	0	0	0	0.0022	0.0154	0.0018823	291	154602	rs369468787	0.0009	0.0009	0.0005	0.0014	0.0147	0.0009	0.0009	0.0140	0.0138	5.974e-05	0	0	0	0	0.0003	7.194e-06	0.0008	0.0147	0.0006	0.0006	0.0004	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	4.811e-05	0	0	0	0	0	0	0	0	0.0189	0.17	0.23997	T	0.38	0.16280	T	0.014	0.16867	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	.	.	.	1.46	0.38073	T	0.33	0.04861	N	0.326	0.44761	-1.0782	0.07701	T	0.037	0.16160	T	7	0.0041415393	0.00082	T	.	.	.	0.006	0.00375	0.35	0.34760	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.501388	0.00562	T	-0.480661	0.24378	T	0.0285916568970058	0.01775	T	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-3.635	0.18364	T	.	.	0.096	0.19720	B	.;.;.	.;.;.	1.034376	0.14145	10.72	0.77574961428259204	0.11933	0.04956	0.10720	N	AEFGBHCI	0.043835	0.06979	N	-1.6589577351394	0.00998	0.04325623	-1.80237361637414	0.00751	0.03350434	0.999999999982177	0.74766	0.50284	0.20314	0	0.563428	0.19063	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.58	-11.2	0.00099	-3.690000	0.00440	-5.846000	0.01576	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.481000	0.28588	0.068:0.1669:0.4926:0.2725	7.563	0.27027	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1961.33	36	chr12	13088043	.	G	A	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=786;ExcessHet=0;FS=1.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.87;SOR=0.787	GT:AD:DP:GQ:PL	0/1:82,77:159:99:1975,0,1943	18	0	1	0
chr12	40487194	40487194	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs77457259	2.408e-06	0.0002	0	5.212e-06	0.0010	4e-07	1.5e-07	.	.	0	0.0010	0	0	0	0	1.316e-06	0	0	7.225e-06	0.0012	0	1.487e-05	1.611e-05	0	0	.	.	0	0	0	0	0	0	0	1.611e-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	1226.33	1298	chr12	40487194	.	G	A	1226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.18;DP=19228;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.14;MQRankSum=-26.43;QD=1.14;ReadPosRankSum=-2.878;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:951,128:1079:99:0|1:40487178_T_C:1240,0,39596:40487178	18	0	1	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3901.31	1334	chr12	40487346	.	A	T	3901.31	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.437;DP=19472;ExcessHet=0.7564;FS=26.86;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.67;MQRankSum=-23.42;QD=0.98;ReadPosRankSum=5.23;SOR=3.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1053,118:1171:99:0|1:40487326_C_A:1764,0,43743:40487326	14	0	4	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3993.93	1334	chr12	40487347	.	G	C	3993.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.22;DP=19442;ExcessHet=0.7564;FS=29.934;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.44;MQRankSum=-23.04;QD=1;ReadPosRankSum=7.14;SOR=3.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1055,120:1175:99:0|1:40487326_C_A:1843,0,43839:40487326	14	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5607.37	1334	chr12	40487354	.	G	A	5607.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.26;DP=19611;ExcessHet=1.3;FS=27.943;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.47;MQRankSum=-24.28;QD=0.97;ReadPosRankSum=8.34;SOR=3.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1052,130:1182:99:0|1:40487326_C_A:2272,0,43782:40487326	14	0	5	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	4909.93	1334	chr12	40487370	.	C	G	4909.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.03;DP=19470;ExcessHet=0.7564;FS=32.19;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.17;MQRankSum=-23.89;QD=1.22;ReadPosRankSum=8.49;SOR=3.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1010,151:1161:99:0|1:40487326_C_A:3279,0,41948:40487326	14	0	4	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	5614.93	1334	chr12	40487373	.	A	G	5614.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.24;DP=19460;ExcessHet=0.7564;FS=24.439;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.08;MQRankSum=-23.96;QD=1.41;ReadPosRankSum=8.25;SOR=3.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:998,158:1156:99:0|1:40487326_C_A:3609,0,41415:40487326	14	0	4	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	5568.93	1334	chr12	40487375	.	G	C	5568.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.33;DP=19470;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.02;MQRankSum=-24.04;QD=1.4;ReadPosRankSum=8.14;SOR=3.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1000,164:1164:99:0|1:40487326_C_A:3855,0,41477:40487326	14	0	4	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	6029.93	1334	chr12	40487377	.	C	G	6029.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.56;DP=19511;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.99;MQRankSum=-23.64;QD=1.52;ReadPosRankSum=7.54;SOR=3.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1008,165:1173:99:0|1:40487326_C_A:3873,0,41810:40487326	14	0	4	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5797.43	1334	chr12	40487388	.	C	G	5797.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.241;DP=19556;ExcessHet=0.7564;FS=27.827;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.14;MQRankSum=-25.65;QD=1.46;ReadPosRankSum=5.84;SOR=3.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:989,167:1156:99:0|1:40487326_C_A:4033,0,40995:40487326	15	0	4	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	6723.93	1334	chr12	40487403	.	G	T	6723.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-6.59;DP=19624;ExcessHet=0.7564;FS=22.397;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.86;MQRankSum=-26.28;QD=1.66;ReadPosRankSum=2.05;SOR=2.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:990,193:1183:99:0|1:40487326_C_A:5124,0,40957:40487326	14	0	4	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	7982.25	1334	chr12	40487418	.	G	C	7982.25	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-5.558;DP=20383;ExcessHet=1.3;FS=14.897;InbreedingCoeff=-0.1692;MLEAC=5;MLEAF=0.139;MQ=55.59;MQRankSum=-28.69;QD=1.4;ReadPosRankSum=-3.687;SOR=2.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:995,224:1219:99:0|1:40487326_C_A:6016,0,41090:40487326	13	0	5	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7676.39	1334	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	7676.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.087;DP=20278;ExcessHet=0.7564;FS=13.759;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.27;MQRankSum=-26.51;QD=1.87;ReadPosRankSum=-6.728;SOR=1.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:999,249:1248:99:0|1:40487326_C_A:6885,0,41184:40487326	15	0	4	0
chr12	40507266	40507266	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947544950	4.696e-06	3.216e-05	5.873e-06	3.353e-06	8.381e-05	1.25e-06	3.5e-07	5.8e-07	2.2e-07	0	0	0	0	0	0	3.495e-06	0	8.381e-05	1.315e-05	1.314e-05	0	2.692e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1234.33	40	chr12	40507266	.	G	A	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.329;SOR=0.737	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1248,0,2059	18	0	1	0
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	88.84	50	chr12	40511000	.	A	G	88.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=2381;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=58.89;MQRankSum=-14.68;QD=0.22;ReadPosRankSum=-3.215;SOR=4.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,15:195:88:0|1:40510979_A_G:88,0,7473:40510979	17	0	2	0
chr12	43428762	43428762	T	C	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon25:c.A3527G:p.Y1176C	.	.	.	.	.	.	.	.	.	.	.	3245794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0571383113498	7.7e-05	.	4.129e-05	0	0	0	0	7.512e-05	0	0	5.82e-05	9	154602	rs376373660	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.986e-05	0	0	0	0	0.0002	0.0002	3.324e-05	4.66e-05	7.231e-05	7.224e-05	0.0001	1.346e-05	0.0001	3.973e-05	3.128e-05	6.805e-05	5.088e-05	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.007	0.78490	D	0.004	0.83351	D	.	.	.	.	.	.	0.008158	0.30992	N	0.147317	0.999998	0.81001	D	3.1	0.87590	M	0.57	0.54347	T	-7.63	0.96736	D	0.955	0.96416	-0.2211	0.77122	T	0.372	0.73091	T	10	0.8162996	0.80866	D	0.057138	0.66856	D	0.363	0.68319	.	.	0.862613207292	0.86127	0.6358997427928809	0.63523	0.274460848789	0.29933	0.726551532745	0.71003	T	.	.	.	0.115586	0.65927	D	0.176564	0.81796	D	0.852231562137604	0.50359	D	0.956904	0.83579	D	.	.	.	.	.	.	.	.	-13.916	0.92780	D	.	.	0.897	0.84598	P	.;.;.;.	.;.;.;.	4.659205	0.74356	26.1	0.99842445252136103	0.92229	0.99248	0.93414	D	AEFBI	0.898340	0.84151	D	0.759996339062808	0.83556	8.04796	0.708655472673904	0.83037	7.917533	0.991923405595301	0.32657	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	5.938000	0.69885	6.184000	0.54674	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.569	0.76062	888	0.27761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1753.33	34	chr12	43428762	.	T	C	1753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.675;DP=814;ExcessHet=0;FS=1.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.571;SOR=0.56	GT:AD:DP:GQ:PL	0/1:83,85:168:99:1767,0,1850	18	0	1	0
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	0/1:61,38:114:99:135,0,835	8	0	5	6
chr12	45429234	45429234	A	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001025356:exon20:c.A2656G:p.M886V,ANO6:NM_001142678:exon20:c.A2602G:p.M868V,ANO6:NM_001204803:exon21:c.A2719G:p.M907V	Scott syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2094818	not_provided|ANO6-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0085	0.00938498	0.0027	0.0255	0.0015	0	0	0.0006	0	6.101e-05	0.002639	408	154602	rs59243955	0.0010	0.0010	0.0012	0.0009	0.0267	0.0010	0.0010	0.0252	0.0246	0.0267	0.0019	0.0094	0	0	0.0021	0.0001	0.0025	4.637e-05	0.0080	0.0080	0.0081	0.0078	0.0262	0.0076	0.0075	0.0249	0.0244	0.0262	0	0.0056	0.0066	0	0	0	0.0001	0.0033	0	0.099	0.31682	T	0.35	0.19131	T	0.0	0.02946	B	0.001	0.04355	B	0.047100	0.23377	N	0.488835	1	0.81001	D	-0.345	0.03330	N	-0.23	0.66652	T	-0.59	0.17624	N	0.053	0.02462	-1.1203	0.02313	T	0.021	0.08917	T	10	0.002709657	0.00042	T	.	.	.	0.033	0.08068	.	.	0.396494342077	0.39262	0.33042904511674576	0.32955	0.186940038993	0.21008	0.344627350569	0.17128	T	0.037988	0.24677	T	-0.567589	0.00229	T	-0.568482	0.15589	T	0.00485228230065393	0.00052	T	0.716128	0.32863	T	0.042221066	0.06364	0.051177863	0.08182	0.049972873	0.08955	0.075923495	0.16763	-3.72	0.22993	T	.	.	0.066	0.06114	B	.;.;.	.;.;.	0.944311	0.13202	9.702	0.89853668819430121	0.19160	0.58560	0.30674	D	AEFBI	0.069868	0.13847	N	-0.569257006971706	0.19884	1.044124	-0.420207571436963	0.24405	1.336202	0.713536679440254	0.22848	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	0.822	0.17944	0.957000	0.28812	1.736000	0.28364	0.756000	0.94297	1.000000	0.71638	0.831000	0.27213	0.987000	0.62547	0.473:0.1994:0.3276:0.0	5.067	0.13926	675	0.60470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.000000	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1100.33	35	chr12	45429234	.	A	G	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.833;SOR=0.727	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1114,0,743	18	0	1	0
chr12	47978057	47978057	C	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon43:c.G2857T:p.V953L,COL2A1:NM_001844:exon44:c.G3064T:p.V1022L	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	0	1519	3	0	0	3	0.000986518	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0734176801487	.	.	8.543e-06	0	0	0	0	0	0	6.21e-05	1.29e-05	2	154602	rs199642249	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.31	0.22223	T	0.36	0.36976	B	0.161	0.38212	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.145	0.29067	L	-3.19	0.93170	D	-1.5	0.37375	N	0.452	0.50868	0.455	0.89901	D	0.709	0.89980	D	10	0.43403444	0.57676	T	0.073418	0.71785	D	0.418	0.72780	0.355	0.35571	0.785298969826	0.78331	0.5170034956118461	0.51623	0.309757753492	0.33285	0.680987119675	0.64410	T	0.414235	0.76786	T	0.0634064	0.60039	T	-0.0460675	0.67291	D	0.535954537824837	0.33954	D	0.652935	0.26315	T	0.46143055	0.64760	0.2552888	0.51209	0.46143055	0.64761	0.2552888	0.51208	-4.651	0.33295	T	0.18814781869959546	0.24559	0.248	0.48272	B	.;.	.;.	4.281684	0.65228	24.8	0.99357183468452148	0.60862	0.94590	0.61662	D	AEFDBI	0.704479	0.66018	D	0.128224121499909	0.47782	2.999228	0.26008128902079	0.53223	3.492506	0.999996889514067	0.74766	0.833774	0.99917	0	0.610034	0.51514	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	4.157000	0.57925	6.015000	0.52706	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.932	0.88919	631	0.64944	.;.	.	.	.	.	.	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	1639.33	45	chr12	47978057	.	C	A	1639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.798;DP=756;ExcessHet=0;FS=3.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.24;SOR=0.965	GT:AD:DP:GQ:PL	0/1:39,65:104:99:1653,0,821	18	0	1	0
chr12	51462389	51462389	C	T	exonic	SLC4A8	.	nonsynonymous SNV	SLC4A8:NM_001039960:exon10:c.C1181T:p.T394M,SLC4A8:NM_001258401:exon10:c.C1022T:p.T341M,SLC4A8:NM_001258402:exon10:c.C1181T:p.T394M,SLC4A8:NM_001258403:exon10:c.C1022T:p.T341M,SLC4A8:NM_001267615:exon10:c.C1022T:p.T341M	.	430	1091	1	0	0	1	0.000458085	.	.	.	2685258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0759959924271	7.7e-05	.	8.323e-05	0	0	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs200938638	8.906e-05	8.961e-05	8.452e-05	9.365e-05	0.0002	7.633e-05	7.178e-05	0.0002	0.0001	2.998e-05	2.257e-05	7.678e-05	2.522e-05	0	0	9e-05	6.634e-05	0.0002	5.259e-05	5.253e-05	2.57e-05	8.073e-05	0.0002	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.01	0.59928	D	0.011	0.66756	D	0.987	0.61912	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	-0.36	0.68754	T	-5.4	0.85103	D	0.907	0.90818	0.215	0.86162	D	0.560	0.83970	D	10	0.7269023	0.74035	D	0.075996	0.72423	D	0.611	0.84773	.	.	0.082315109003	0.07666	0.7305195841599282	0.72996	1.75140480427	0.90995	0.815451979637	0.84330	D	0.741688	0.92850	D	0.0799885	0.62039	D	0.174681	0.81687	D	0.681824684143066	0.39871	D	0.904909	0.67676	D	0.7181024	0.79056	0.6491804	0.79478	0.7181024	0.79057	0.6491804	0.79479	-10.137	0.78224	D	.	.	0.466	0.71754	A	.;.;.;.	.;.;.;.	5.534056	0.91900	32	0.99931989218710993	0.99439	0.98129	0.79847	D	AEFBI	0.868676	0.78890	D	0.867178219213403	0.90064	10.23677	0.831602733317215	0.91898	11.12631	0.999999999271545	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.21	5.21	0.72005	7.902000	0.86082	5.942000	0.51497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.399	0.90455	229	0.91079	.;.;Band 3 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	.	.	.	.	.	.	.	.	0.02632	831.33	36	chr12	51462389	.	C	T	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.587;DP=710;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.405;SOR=0.843	GT:AD:DP:GQ:PL	0/1:49,37:86:99:845,0,1150	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	0/1:31,15:57:83:83,0,615	7	0	10	2
chr12	53059230	53059230	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1619A:p.R540Q,TNS2:NM_170754:exon18:c.G1589A:p.R530Q,TNS2:NM_198316:exon18:c.G1217A:p.R406Q	.	427	1061	33	1	0	35	0.0162262	.	.	.	2100270	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.320	0.772024504778	0.0043	0.00199681	0.0052	0.0010	0.0027	0	0.0017	0.0070	0.0034	0.0067	0.0001153	3	26028	rs186505042	0.0045	0.0045	0.0044	0.0046	0.0142	0.0044	0.0044	0.0116	0.0107	0.0017	0.0025	0.0250	5.123e-05	0.0011	0.0142	0.0043	0.0064	0.0054	0.0039	0.0039	0.0043	0.0035	0.0050	0.0036	0.0035	0.0045	0.0044	0.0008	0.0044	0.0049	0.0257	0.0004	0.0007	0.0238	0.0050	0.0077	0.0043	0.05	0.40068	D	0.444	0.15157	T	0.414	0.35185	B	0.05	0.25278	B	0.009088	0.30522	N	0.290697	0.563685	0.32234	D	.	.	.	-3.36	0.94067	D	-0.74	0.20791	N	0.251	0.32812	-0.4187	0.71434	T	0.387	0.74187	T	10	0.01160565	0.00253	T	0.772025	0.98198	D	0.320	0.64215	.	.	0.136095386433	0.13204	0.310462656355981	0.30959	0.897905251988	0.70530	0.669389784336	0.62751	T	0.166645	0.51296	T	-0.233784	0.16152	T	-0.106949	0.62854	T	0.0177116158695106	0.00502	T	0.927407	0.73262	D	0.12236214	0.28756	0.088153794	0.20536	0.12236214	0.28756	0.088153794	0.20536	-4.152	0.31627	T	.	.	0.140	0.32299	B	.;.;.;.;.;.	.;.;.;.;.;.	4.123727	0.61658	24.4	0.99869567671012383	0.94726	0.26646	0.23052	N	AEFDBCIJ	0.230530	0.35389	N	-0.435702239582266	0.24227	1.306702	-0.29249201110978	0.28344	1.579759	0.999889827802085	0.44867	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	0.972000	0.29007	9.666000	0.81207	0.588000	0.31329	0.003000	0.16062	1.000000	0.68203	0.815000	0.38403	0.1017:0.0:0.8983:0.0	9.088	0.35757	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.021761	0.026316	0.020436	0.032164	0.000000	0.025862	0.012270	0.018939	0.05263	1249.83	37	chr12	53059230	.	G	A	1249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.55;DP=747;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.27;SOR=0.702	GT:AD:DP:GQ:PL	0/1:27,32:59:99:868,0,541	17	0	2	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	209.59	144	chr12	54363394	.	G	A	209.59	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-4.23;DP=1750;ExcessHet=1.3;FS=194.631;InbreedingCoeff=-0.21;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.681;SOR=9.84	GT:AD:DP:GQ:PL	0/1:68,20:95:16:16,0,1370	11	0	5	3
chr12	55683907	55683907	T	C	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon2:c.T593C:p.I198T	.	428	1090	4	0	0	4	0.0018315	.	.	.	3343630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00815921010394	7.7e-05	.	0.0003	0	0.0006	0	0	0.0002	0.0011	0.0013	0.0002781	43	154602	rs369422527	0.0002	0.0002	0.0002	0.0003	0.0051	0.0002	0.0002	0.0036	0.0031	8.961e-05	0.0006	0	0	0	0.0051	9.263e-05	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0003	0	0	0	0	0.0002	0.0009	0.0015	0.018	0.50676	D	0.024	0.64786	D	0.565	0.38434	P	0.201	0.36881	B	0.080654	0.20912	N	0.499382	0.903816	0.36236	D	1.77	0.45869	L	2.03	0.20959	T	-2.32	0.51478	N	0.374	0.41557	-1.0680	0.09858	T	0.046	0.19879	T	10	0.024705857	0.00689	T	0.008159	0.21623	T	0.188	0.46444	.	.	0.043077524339	0.03247	0.15234584201379014	0.15156	0.0495549813721	0.05433	0.492167234421	0.37740	T	0.087619	0.37982	T	-0.418799	0.01741	T	-0.393367	0.34157	T	0.084445006545753	0.10545	T	0.833317	0.50212	T	0.0833133	0.19234	0.08952104	0.20937	0.0833133	0.19234	0.08952104	0.20937	-6.948	0.53654	T	.	.	0.211	0.51532	B	.;.	.;.	3.150840	0.42657	21.6	0.93795338957903918	0.23762	0.97111	0.72754	D	AEFBI	0.939063	0.93915	D	-0.26560889023581	0.30485	1.700275	-0.279017255950245	0.28790	1.607979	0.996201076390436	0.34592	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.01	2.84	0.32241	6.774000	0.74807	.	.	-0.147000	0.12262	0.889000	0.31176	0.764000	0.26647	0.618000	0.31844	0.0:0.0:0.1914:0.8086	8.765	0.33859	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1305.33	34	chr12	55683907	.	T	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.258;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.173;SOR=0.718	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1319,0,1840	18	0	1	0
chr12	55707505	55707505	G	A	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001144996:exon1:c.C178T:p.R60W,ITGA7:NM_001374465:exon1:c.C178T:p.R60W,ITGA7:NM_002206:exon1:c.C178T:p.R60W	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1048040	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.126101923017	.	.	2.561e-05	0.0001	0	0	0	0	0.0012	6.077e-05	1.94e-05	3	154602	rs374374611	1.232e-05	1.3e-05	1.089e-05	1.375e-05	3.478e-05	7.7e-06	6.35e-06	9.24e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	3.478e-05	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	0.246	0.17353	T	0.158	0.31629	T	0.194	0.29493	B	0.078	0.28627	B	0.009480	0.30346	N	0.212708	0.942066	0.81001	D	1.845	0.48678	L	-0.57	0.71307	T	-3.38	0.67941	D	0.604	0.62188	-0.5329	0.67432	T	0.308	0.67886	T	10	0.44735232	0.58481	T	0.126102	0.80772	D	0.271	0.58633	.	.	0.857329924347	0.85595	0.6306297469272208	0.62996	0.672519097179	0.59533	0.69465303421	0.66374	T	0.140974	0.89703	T	-0.134805	0.30720	T	-0.249268	0.49888	T	0.818646609783173	0.47671	D	0.841416	0.62583	T	0.11353981	0.26813	0.12895861	0.31016	0.11353981	0.26813	0.12895861	0.31015	-8.121	0.62385	D	.	.	0.114	0.36986	B	.;.;.;.	.;.;.;.	3.587490	0.50608	23.0	0.99881934859775623	0.95813	0.67307	0.33385	D	AEFDBHCIJ	0.773004	0.70715	D	-0.0366440462996913	0.40202	2.383407	0.017909473975578	0.40547	2.421556	0.999999999439687	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.504199	0.09095	0	0.554799	0.18163	0	.	.	4.88	2.98	0.33575	1.390000	0.34072	.	.	-0.153000	0.12021	0.999000	0.42656	0.999000	0.35428	0.996000	0.76049	0.0:0.1588:0.514:0.3273	7.880	0.28781	711	0.56613	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	510.33	34	chr12	55707505	.	G	A	510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=696;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-0.885;SOR=0.846	GT:AD:DP:GQ:PL	0/1:44,23:67:99:524,0,1067	18	0	1	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L,COQ10A:NM_144576:exon5:c.G637C:p.V213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START 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	.	.	.	.	.	.	.	.	0.0625	42.62	119	chr12	56270210	.	G	C	42.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.192;DP=2004;ExcessHet=0.119;FS=216.299;InbreedingCoeff=-0.1135;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=1.71;SOR=10.494	GT:AD:DP:GQ:PL	0/1:82,31:113:43:43,0,1728	14	0	2	3
chr12	56311212	56311212	G	A	exonic	CNPY2	.	nonsynonymous SNV	CNPY2:NM_014255:exon4:c.C407T:p.A136V	.	.	.	.	.	.	.	.	0.9971	0.83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0110010963712	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.07e-05	1.29e-05	2	154602	rs762509546	3.147e-05	3.147e-05	3.676e-05	2.613e-05	0.0003	2.412e-05	2.158e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.418e-05	4.969e-05	3.478e-05	5.259e-05	5.254e-05	2.57e-05	8.074e-05	0.0001	2.558e-05	1.831e-05	2.262e-05	1.124e-05	4.83e-05	0	0.0001	0	0	0	0	5.881e-05	0	0	0.201	0.36509	T	0.133	0.37449	T	0.979	0.59044	D	0.606	0.50970	P	0.000002	0.62929	D	0.057857	1	0.81001	D	2.23	0.63091	M	1.21	0.37230	T	-2.74	0.61865	D	0.348	0.38950	-0.9494	0.41075	T	0.147	0.47273	T	10	0.54048145	0.63691	D	0.011001	0.28166	T	0.296	0.61616	0.51	0.60693	0.349647731962	0.34572	0.5475861538638231	0.54684	1.21689520862	0.80995	0.700053870678	0.67151	T	0.202752	0.56102	T	0.138688	0.68200	D	0.0582939	0.74132	D	0.966062784194946	0.67464	D	0.809319	0.49671	T	0.3479809	0.56909	0.324416	0.58366	0.3479809	0.56909	0.324416	0.58365	-9.687	0.72017	D	.	.	0.384	0.58686	A	.;.;.;.	.;.;.;.	4.479071	0.69862	25.4	0.99929889189507537	0.99279	0.97801	0.77233	D	AEFBCI	0.890256	0.82512	D	0.57056517544782	0.71343	5.636455	0.59464745472635	0.74554	6.157022	0.999999957955008	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	6.555000	0.73826	4.529000	0.43718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.098	0.89424	295	0.88218	.;Domain of unknown function DUF3456|Saposin B type domain;Domain of unknown function DUF3456;Domain of unknown function DUF3456	.	.	.	.	.	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	1346.33	33	chr12	56311212	.	G	A	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.611;DP=697;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.694;SOR=0.388	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1360,0,899	18	0	1	0
chr12	57516550	57516551	CT	-	exonic	MARS1	.	frameshift deletion	MARS1:NM_004990:exon21:c.2672_2673del:p.P891Rfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	859.29	37	chr12	57516549	.	CCT	C	859.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=667;ExcessHet=0;FS=7.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=1.22;SOR=0.164	GT:AD:DP:GQ:PL	0/1:17,22:39:99:873,0,648	18	0	1	0
chr12	80632198	80632198	G	T	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon34:c.G5693T:p.G1898V	Deafness, autosomal recessive 84A, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0178665455694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.72	0.72209	-0.8478	0.52120	T	0.210	0.57027	T	8	0.66570306	0.70414	D	0.017867	0.39735	T	.	.	0.471	0.54537	0.315314060047	0.31143	0.7515412886047196	0.75101	.	.	0.652577519417	0.60352	T	0.029383	0.21067	T	0.439664	0.92007	D	0.39377	0.91908	D	0.972108114195079	0.69571	D	0.886911	0.61435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44694	B	.;.;.	.;.;.	4.779109	0.77442	26.7	0.99554984871368668	0.71397	0.99237	0.93252	D	AEFBI	0.769573	0.70479	D	0.604506106057671	0.73457	5.969556	0.603194188453825	0.75171	6.26372	0.999999993471827	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	7.411000	0.79291	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.881	0.92328	908	0.22609	.;.;.	.	.	.	.	.	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	1078.33	33	chr12	80632198	.	G	T	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.397;DP=705;ExcessHet=0;FS=1.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.161;SOR=0.507	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1092,0,870	18	0	1	0
chr12	96942585	96942585	G	A	exonic	NEDD1	.	nonsynonymous SNV	NEDD1:NM_001135177:exon9:c.G988A:p.V330I,NEDD1:NM_001135175:exon10:c.G1276A:p.V426I,NEDD1:NM_001135176:exon10:c.G1255A:p.V419I,NEDD1:NM_152905:exon11:c.G1255A:p.V419I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00898074028262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.497e-06	1.233e-05	3.01e-06	0	0.0004	2.5e-07	9e-08	6.36e-05	2.621e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.18626	T	0.437	0.13441	T	0.842	0.46562	P	0.169	0.35248	B	0.122253	0.18963	N	0.566392	0.999839	0.20991	N	2.24	0.63355	M	0.82	0.48460	T	-0.43	0.14390	N	0.36	0.44474	-1.0219	0.23096	T	0.123	0.42631	T	10	0.22285861	0.39049	T	0.008981	0.23655	T	0.061	0.17616	0.266	0.21261	0.29527378943	0.29149	0.03242472690592701	0.03190	0.0579350945129	0.06414	0.427621364594	0.28883	T	0.02287	0.17556	T	-0.206991	0.19805	T	-0.535105	0.18779	T	0.328381926886129	0.26160	T	0.578742	0.20864	T	0.061672583	0.12799	0.055092424	0.09600	0.061672583	0.12798	0.055092424	0.09600	-3.787	0.20685	T	.	.	0.070	0.09288	B	.;.;.;.;.	.;.;.;.;.	2.310971	0.29582	18.17	0.90909361226080165	0.20158	0.87335	0.46843	D	AEFBI	0.089212	0.18083	N	-0.0551935346335093	0.39370	2.320662	-0.0382782353894177	0.38001	2.232783	0.375594728910995	0.19911	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	3.72	0.41857	2.064000	0.41059	3.944000	0.40624	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.398:0.602:0.0	15.417	0.74701	569	0.70546	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1163.33	37	chr12	96942585	.	G	A	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=759;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.171;SOR=0.627	GT:AD:DP:GQ:PL	0/1:78,53:131:99:1177,0,1811	18	0	1	0
chr12	98699448	98699448	A	C	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon17:c.A2312C:p.N771T,APAF1:NM_013229:exon17:c.A2312C:p.N771T,APAF1:NM_181861:exon17:c.A2345C:p.N782T,APAF1:NM_181868:exon17:c.A2345C:p.N782T	.	431	1044	43	4	0	51	0.0238429	.	.	.	3185078	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0096	0.00539137	0.0100	0.0016	0.0082	0	0.0050	0.0119	0.0210	0.0155	0.0097023	1500	154602	rs117235991	0.0091	0.0091	0.0087	0.0094	0.0186	0.0089	0.0089	0.0157	0.0146	0.0017	0.0084	0.0164	5.04e-05	0.0048	0.0186	0.0091	0.0096	0.0155	0.0079	0.0079	0.0076	0.0081	0.0147	0.0075	0.0073	0.0120	0.0110	0.0020	0.0055	0.0102	0.0210	0	0.0049	0.0170	0.0108	0.0071	0.0147	0.014	0.53172	D	0.068	0.47097	T	0.003	0.47557	B	0.006	0.43945	B	0.000420	0.44736	D	0.281549	0.973598	0.81001	D	1.5	0.37844	L	1.67	0.80214	T	-1.03	0.27052	N	0.473	0.73555	-0.4435	0.70614	T	0.295	0.66631	T	10	0.0077916086	0.00177	T	.	.	.	0.080	0.23350	.	.	0.802638173155	0.80078	0.20224193542745414	0.20141	0.267085592342	0.29244	0.369986623526	0.20830	T	0.291341	0.66410	T	-0.344547	0.05079	T	-0.255371	0.49285	T	0.015130418351858	0.00329	T	0.891811	0.64041	D	0.1604264	0.35983	0.0937898	0.22171	0.1604264	0.35983	0.0937898	0.22171	-8.572	0.64904	D	.	.	0.129	0.31882	B	.;.;.;.;.;.	.;.;.;.;.;.	3.159579	0.42806	21.6	0.99061089815682835	0.51482	0.89020	0.49241	D	AEFBCI	0.517694	0.54370	D	-0.024878610737039	0.40732	2.423947	0.144125068222075	0.46832	2.922784	0.999999999485201	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	4.790000	0.62146	6.894000	0.56850	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.018	0.71258	884	0.28482	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.020202	0.017663	0.011696	0.050000	0.025862	0.027439	0.037879	0.02632	1642.33	34	chr12	98699448	.	A	C	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=749;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.51;SOR=0.882	GT:AD:DP:GQ:PL	0/1:56,69:125:99:1656,0,1291	18	0	1	0
chr12	100624061	100624061	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1256T:p.P419L,GAS2L3:NM_001303131:exon10:c.C944T:p.P315L,GAS2L3:NM_001363672:exon10:c.C1256T:p.P419L,GAS2L3:NM_174942:exon10:c.C1256T:p.P419L	.	432	1085	3	2	0	7	0.00321543	.	.	.	702055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0052	0.00339457	0.0071	0.0010	0.0034	0	0.0076	0.0102	0.0110	0.0047	0.0070633	1092	154602	rs148236676	0.0087	0.0087	0.0088	0.0086	0.0100	0.0086	0.0086	0.0098	0.0098	0.0012	0.0038	0.0002	2.519e-05	0.0078	0.0038	0.0100	0.0082	0.0059	0.0060	0.0060	0.0065	0.0054	0.0096	0.0056	0.0055	0.0090	0.0088	0.0019	0.0088	0.0055	0	0	0.0058	0	0.0096	0.0038	0.0035	0.25	0.17126	T	0.065	0.44702	T	0.002	0.09854	B	0.003	0.08700	B	0.033227	0.24925	N	0.368200	0.667511	0.33111	D	1.78	0.46185	L	1.86	0.25018	T	-0.84	0.31778	N	0.035	0.01004	-1.0566	0.12621	T	0.039	0.16634	T	10	0.0062997937	0.00142	T	.	.	.	0.036	0.09122	.	.	0.478605750892	0.47488	0.2569729977280823	0.25611	0.0827717026036	0.09339	0.266068667173	0.05635	T	0.013961	0.16921	T	-0.608905	0.00129	T	-0.638032	0.09813	T	0.00624438420586925	0.00069	T	0.661134	0.27033	T	0.018380845	0.00359	0.025030047	0.00535	0.018380845	0.00359	0.025030047	0.00535	-4.412	0.29719	T	.	.	0.069	0.07130	B	.;.;.;.	.;.;.;.	0.778835	0.11490	8.091	0.32139446252095555	0.01847	0.39156	0.26149	N	AEFBI	0.162557	0.28874	N	-0.652270611460934	0.17394	0.8947002	-0.662431228885488	0.17903	0.9540487	0.00355143553771963	0.10174	0.706548	0.73137	0	0.588066	0.40923	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.95	4.06	0.46572	2.083000	0.41239	1.774000	0.28659	-0.242000	0.07441	0.006000	0.17386	0.004000	0.18990	0.016000	0.10718	0.0:0.7873:0.1365:0.0761	10.206	0.42292	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015152	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2301.33	140	chr12	100624061	.	C	T	2301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=1979;ExcessHet=0;FS=4.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.216;SOR=0.764	GT:AD:DP:GQ:PL	0/1:98,89:187:99:2315,0,2581	18	0	1	0
chr12	101327151	101327151	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon26:c.A3112G:p.M1038V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0077483689717	.	.	1.648e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs748156914	5.476e-06	5.472e-06	5.447e-06	5.505e-06	8.947e-05	2.36e-06	1.7e-06	2.985e-05	1.805e-05	0	8.947e-05	0	0	3.745e-05	0	1.8e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	9.413e-05	0	0	0	0	0.222	0.18823	T	0.138	0.33780	T	0.109	0.26142	B	0.122	0.32387	B	0.000226	0.47286	D	0.252582	0.933866	0.37068	D	1.95	0.52479	M	2.31	0.16794	T	-1.8	0.42384	N	0.675	0.68255	-1.0690	0.09634	T	0.051	0.21767	T	10	0.6365974	0.68817	D	0.007748	0.20563	T	0.132	0.35948	0.623	0.75803	0.429780353351	0.42593	0.3718597669120215	0.37099	0.161675508535	0.18244	0.506577014923	0.39744	T	0.020009	0.15833	T	-0.282735	0.10380	T	-0.418204	0.31281	T	0.428232908248901	0.29995	T	0.856214	0.54490	D	0.13894741	0.32115	0.18378305	0.41390	0.13894741	0.32115	0.18378305	0.41389	-6.842	0.52871	T	.	.	0.116	0.23535	B	.	.	1.884308	0.23932	16.21	0.9707584417720525	0.32260	0.94716	0.62084	D	AEFDBI	0.517683	0.54370	D	0.00633171742368679	0.42144	2.533677	0.136015179800136	0.46405	2.887047	0.822190713859782	0.24544	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	4.411000	0.59536	9.208000	0.79221	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	1.0:0.0:0.0:0.0	15.042	0.71459	823	0.40596	Down-regulated-in-metastasis protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1201.33	37	chr12	101327151	.	A	G	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.42;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.603;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1215,0,1339	18	0	1	0
chr12	104304711	104304711	A	G	exonic	EID3	.	nonsynonymous SNV	EID3:NM_001008394:exon1:c.A777G:p.I259M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0110231514622	.	.	0.0001	0	0	0	0	4.518e-05	0	0.0007	9.06e-05	14	154602	rs753380448	5.269e-05	5.267e-05	2.587e-05	7.978e-05	0.0007	4.279e-05	3.954e-05	0.0005	0.0004	0	2.24e-05	0	0	0	0.0007	1.619e-05	6.627e-05	0.0006	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.989e-05	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	0.113	0.28772	T	0.042	0.50226	D	0.977	0.58535	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	0.835	0.21042	L	0.84	0.47477	T	-1.41	0.34795	N	0.244	0.27554	-0.8715	0.50416	T	0.158	0.49060	T	9	0.25183886	0.42529	T	0.011023	0.28208	T	0.302	0.62290	0.733	0.86633	0.378322506985	0.37446	0.36985087594658306	0.36899	0.593432301809	0.54691	0.473144888878	0.35113	T	0.049631	0.28362	T	-0.38123	0.03060	T	-0.435955	0.29261	T	0.190396830439568	0.19868	T	0.783822	0.42110	T	0.10431016	0.24658	0.13143653	0.31561	0.10431016	0.24658	0.13143653	0.31560	-6.762	0.52276	T	.	.	0.098	0.16275	B	.	.	2.068300	0.26303	17.07	0.99414380180071316	0.63453	0.45859	0.27632	N	AEDBCI	0.125795	0.24245	N	0.0762573660707375	0.45356	2.793574	-0.00143913966828166	0.39650	2.354222	0.999990507025234	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.349732	0.05809	1	.	.	4.45	0.502	0.16138	-0.754000	0.04892	0.200000	0.15841	0.756000	0.94297	0.606000	0.27796	0.591000	0.25671	0.999000	0.91618	0.4995:0.2077:0.1085:0.1843	1.056	0.01491	626	0.65439	Non-structural maintenance of chromosome element 4, 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	1597.33	33	chr12	104304711	.	A	G	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.9;SOR=0.743	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1611,0,1885	18	0	1	0
chr12	108702849	108702849	C	T	exonic	CORO1C	.	nonsynonymous SNV	CORO1C:NM_001105237:exon1:c.G101A:p.R34Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0531873465423	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs183262931	2.097e-05	2.052e-05	2.141e-05	2.051e-05	0.0004	1.471e-05	1.272e-05	6.163e-05	2.548e-05	0	0	3.972e-05	0	0	0.0004	1.854e-05	5.183e-05	3.79e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.013	0.53900	D	0.552	0.09361	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.02	0.62318	T	0.07	0.06138	N	0.055	0.02658	-1.0136	0.25784	T	0.128	0.43585	T	8	0.0699594	0.10112	T	0.053187	0.65368	D	0.063	0.18251	.	.	0.311889312631	0.30795	0.11787155827765451	0.11714	.	.	0.30627065897	0.11344	T	.	.	.	-0.349581	0.04754	T	-0.542954	0.18008	T	0.124309562146664	0.14846	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-3.723	0.19658	T	.	.	0.077	0.06387	B	.	.	1.414298	0.18301	13.66	0.69424756813259103	0.08968	0.03890	0.09262	N	AEFDBCIJ	0.037634	0.05204	N	-0.589005655452266	0.19277	1.00766	-0.48420695834253	0.22587	1.227619	0.999940948815855	0.47345	0.45559	0.09716	2	0.519925	0.08708	0	0.491513	0.07944	0	0.322989	0.05693	1	.	.	4.82	3.67	0.41236	0.893000	0.27970	0.535000	0.19282	-0.114000	0.14653	1.000000	0.71638	0.890000	0.27818	0.021000	0.11733	0.0:0.099:0.0:0.901	7.344	0.25827	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	1450.33	33	chr12	108702849	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=738;ExcessHet=0;FS=3.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.539;SOR=1.089	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1464,0,1056	18	0	1	0
chr12	119156625	119156642	CGGAGCCGGAGCCGGAGA	-	exonic	SRRM4	.	nonframeshift deletion	SRRM4:NM_194286:exon13:c.1663_1680del:p.S558_R563del	.	283	1236	2	0	1	3	0.000808407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.137e-05	0	0	0	0	5.001e-05	0	0.0003	3.84e-05	1	26028	rs765938051	0.0001	0.0001	8.616e-05	0.0001	0.0006	8.692e-05	8.178e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0002	7.12e-05	5.01e-05	0.0006	2.012e-05	1.987e-05	1.31e-05	2.749e-05	6.637e-05	5.35e-06	2.48e-06	4.94e-06	1.85e-06	0	0	6.637e-05	0	0	0	0	2.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	581.29	36	chr12	119156624	.	TCGGAGCCGGAGCCGGAGA	T	581.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=501;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.42;ReadPosRankSum=0.414;SOR=0.368	GT:AD:DP:GQ:PL	0/1:6,16:22:99:595,0,199	18	0	1	0
chr12	121439883	121439883	T	C	exonic	KDM2B	.	nonsynonymous SNV	KDM2B:NM_001005366:exon21:c.A3596G:p.D1199G,KDM2B:NM_032590:exon22:c.A3803G:p.D1268G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.0156909168381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.32769	T	0.29	0.51112	T	1.0	0.90584	D	0.996	0.84481	D	0.000035	0.55875	D	0.000000	1	0.81001	D	1.38	0.34346	L	1.56	0.29602	T	-3.27	0.74742	D	0.834	0.82964	-1.0414	0.16890	T	0.118	0.41451	T	10	0.61734146	0.67781	D	0.015691	0.36562	T	0.351	0.67234	0.412	0.44887	0.443848435703	0.44006	0.505351052174511	0.50457	1.53742651601	0.87669	0.783381819725	0.79438	T	0.07543	0.81008	T	0.210918	0.74916	D	0.065193	0.74589	D	0.928462227043948	0.59193	D	0.89921	0.64723	D	0.49106938	0.66566	0.46358624	0.68861	0.49106938	0.66567	0.46358624	0.68861	-11.852	0.84123	D	.	.	0.688	0.86637	P	.;.;.	.;.;.	5.151677	0.86283	28.9	0.99822296990497028	0.90502	0.99336	0.94674	D	AEFDGBI	0.894226	0.83299	D	0.326275883906864	0.57499	3.917624	0.459806536892876	0.65351	4.812582	0.999999999996261	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.017000	0.88732	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.186	0.81771	570	0.70478	.;.;.	.	.	.	.	.	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	1733.33	35	chr12	121439883	.	T	C	1733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=789;ExcessHet=0;FS=5.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.174;SOR=0.377	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1747,0,2223	18	0	1	0
chr12	121823257	121823257	G	A	exonic	SETD1B	.	nonsynonymous SNV	SETD1B:NM_001353345:exon12:c.G4678A:p.V1560I	.	421	1085	13	3	0	19	0.00867976	.	.	.	2743695	SETD1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.664128949989	.	0.000399361	0.0043	0.0014	0	0.0031	0	0.0038	0	0.0051	0.0005433	84	154602	rs200570124	0.0038	0.0037	0.0039	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0008	3.972e-05	5.597e-05	0.0007	0.0025	0.0043	0.0050	0.0042	0.0021	0.0022	0.0025	0.0017	0.0044	0.0020	0.0019	0.0036	0.0034	0.0004	0	0.0009	0	0.0002	0	0.0034	0.0040	0.0014	0.0044	0.427	0.09629	T	0.479	0.13215	T	.	.	.	.	.	.	0.099836	0.19915	N	0.371949	1	0.08975	N	0.345	0.11182	N	-3.35	0.94022	D	-0.19	0.09965	N	0.047	0.02272	-0.5888	0.65268	T	0.457	0.78843	T	10	0.0068853498	0.00156	T	0.664129	0.97184	D	0.195	0.47612	.	.	0.408307896497	0.40449	0.0751339239987074	0.07449	1.09904661902	0.77669	0.763088822365	0.76391	T	0.016606	0.13692	T	-0.435475	0.01375	T	-0.397902	0.33628	T	0.00920149760717049	0.00116	T	0.458554	0.13398	T	0.02147241	0.00751	0.035252094	0.02741	0.02147241	0.00751	0.035252094	0.02740	-4.263	0.27655	T	.	.	0.070	0.04723	B	.;.;.;.	.;.;.;.	1.466960	0.18903	13.99	0.91787916343125187	0.21092	0.80114	0.39839	D	AEFDBHCI	0.077889	0.15703	N	-0.65597818774819	0.17286	0.888222	-0.530789660053817	0.21318	1.152726	0.989592233712894	0.31876	0.562547	0.31514	0	0.577304	0.33150	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	4.36	0.445	0.15808	0.185000	0.16767	0.600000	0.19915	0.567000	0.28720	0.000000	0.06391	0.007000	0.19602	0.687000	0.33748	0.1417:0.1755:0.5022:0.1806	2.119	0.03495	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004016	0.000000	0.000000	0.004000	0.000000	0.000000	0.020202	0.000000	0.02632	896.33	34	chr12	121823257	.	G	A	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=712;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.113;SOR=0.46	GT:AD:DP:GQ:PL	0/1:29,41:70:99:910,0,576	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	0/1:38,39:77:99:887,0,942	16	0	3	0
chr13	20989083	20989083	T	C	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon4:c.A697G:p.K233E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0113641087732	.	.	5.831e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs772031398	4.43e-05	4.446e-05	3.715e-05	5.153e-05	5.605e-05	3.55e-05	3.23e-05	4.462e-05	4.05e-05	0	2.327e-05	0	0	0	0	5.605e-05	1.674e-05	0	6.576e-05	6.569e-05	6.427e-05	6.733e-05	0.0001	3.519e-05	2.618e-05	6.809e-05	5.091e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.637	0.07037	T	0.483	0.36807	P	0.057	0.26280	B	0.000001	0.84330	D	0.000000	0.912276	0.36443	D	1.875	0.49914	L	1.56	0.29602	T	-1.2	0.30555	N	0.242	0.27316	-1.0603	0.11681	T	0.058	0.24354	T	10	0.13407364	0.25517	T	0.011364	0.28906	T	0.083	0.24192	0.305	0.27485	0.445544589891	0.44177	0.7096553514942248	0.70907	0.970015830112	0.73328	0.673049092293	0.63272	T	0.128491	0.45618	T	-0.269532	0.11809	T	-0.431949	0.29715	T	0.104232412612589	0.12816	T	0.535646	0.17968	T	0.31624892	0.54321	0.291646	0.55190	0.31624892	0.54321	0.291646	0.55189	-2.48	0.05646	T	.	.	0.374	0.58096	A	.	.	2.825782	0.37236	20.4	0.99605711606559288	0.74516	0.95525	0.65068	D	AEFDBI	0.270954	0.38691	N	-0.116800412336988	0.36660	2.122109	-0.0215215472801768	0.38744	2.287108	0.999453216426546	0.39788	0.706548	0.73137	0	0.546412	0.12157	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	4.05	0.46415	0.481000	0.21969	3.000000	0.35917	0.519000	0.23678	0.062000	0.21832	1.000000	0.68203	0.747000	0.35681	0.0:0.0:0.1433:0.8567	12.163	0.53418	921	0.19240	.	.	.	.	.	.	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	732.33	37	chr13	20989083	.	T	C	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=793;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.28;SOR=1.09	GT:AD:DP:GQ:PL	0/1:37,29:66:99:746,0,974	18	0	1	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|1:193,33:226:99:0|1:25097005_A_G:805,0,8005:25097005	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|1:193,33:226:99:0|1:25097005_A_G:805,0,8005:25097005	7	0	12	0
chr13	25253869	25253869	G	T	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385232:exon10:c.C1115A:p.A372D,MTMR6:NM_001385233:exon10:c.C1112A:p.A371D,MTMR6:NM_001385234:exon10:c.C1106A:p.A369D,MTMR6:NM_001385237:exon10:c.C1106A:p.A369D,MTMR6:NM_001385238:exon10:c.C833A:p.A278D,MTMR6:NM_001385231:exon11:c.C1187A:p.A396D,MTMR6:NM_001385236:exon11:c.C1241A:p.A414D,MTMR6:NM_004685:exon11:c.C1241A:p.A414D,MTMR6:NM_001385230:exon12:c.C1355A:p.A452D	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	.	0.0006	0.0233626	0.0097	0.0005	0.0045	0.0837	0.0015	0.0016	0.0044	0.0164	0.0090555	1400	154602	rs79053319	0.0042	0.0042	0.0039	0.0046	0.0812	0.0041	0.0041	0.0789	0.0779	0.0001	0.0032	0.0057	0.0812	0.0017	0.0029	0.0007	0.0055	0.0170	0.0049	0.0050	0.0040	0.0060	0.0929	0.0046	0.0045	0.0861	0.0834	0.0003	0.0175	0.0019	0.0055	0.0929	0.0012	0	0.0009	0.0033	0.0228	0.063	0.36709	T	0.039	0.51112	D	0.834	0.46206	P	0.176	0.35644	B	0.000004	0.62929	N	0.139939	1	0.81001	D	3.57	0.93460	H	-2.82	0.91192	D	-4.34	0.76822	D	0.542	0.56919	-0.5180	0.67989	T	0.114	0.40513	T	10	0.011748701	0.00255	T	.	.	.	0.690	0.88726	.	.	0.974489703242	0.97421	0.8685922447097401	0.86824	0.19274520419	0.21601	0.67719066143	0.63866	T	0.680092	0.90597	D	-0.153391	0.27781	T	0.079846	0.75568	D	0.0946518568234797	0.11758	T	0.882712	0.60367	D	0.8910354	0.90596	0.8159179	0.89278	0.8910354	0.90597	0.8159179	0.89278	-10.566	0.77225	D	.	.	0.424	0.60884	A	.	.	3.276774	0.44877	22.0	0.9976261574648998	0.85172	0.92333	0.55470	D	ALL	0.647969	0.62296	D	0.424481151106037	0.62770	4.498695	0.43719403578283	0.63899	4.633097	0.999999999634843	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.86	4.1	0.47196	5.718000	0.68103	3.830000	0.39991	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7441:0.2559	15.306	0.73701	819	0.41190	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.000000	0.021341	0.022727	0.02632	601.33	33	chr13	25253869	.	G	T	601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=718;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.06;SOR=0.941	GT:AD:DP:GQ:PL	0/1:53,28:81:99:615,0,1387	18	0	1	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	38	chr13	26676631	.	T	C	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.25;DP=1453;ExcessHet=0;FS=100.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.52;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,25:165:45:.:.:45,0,3228:.	18	0	1	0
chr13	32262378	32262378	C	T	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon53:c.C7682T:p.S2561L	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00510265927836	8.2e-05	0.000199681	9.942e-05	0	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs199608184	5.886e-05	5.883e-05	6.13e-05	5.641e-05	0.0007	4.879e-05	4.499e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0007	5.67e-05	0.0001	2.319e-05	5.909e-05	5.906e-05	5.139e-05	6.715e-05	0.0002	3.075e-05	2.209e-05	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	5.88e-05	0.0005	0	.	.	.	0.059	0.46406	T	0.017	0.17573	B	0.006	0.12133	B	0.045547	0.23526	N	0.516563	0.999995	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.061	0.03392	-1.0291	0.20746	T	0.040	0.17277	T	10	0.024527937	0.00678	T	0.005103	0.12939	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.18930863430365236	0.18848	0.353417528021	0.37145	0.203776150942	0.00575	T	0.031346	0.21997	T	-0.477866	0.00761	T	-0.654898	0.08614	T	0.0694843979604167	0.08578	T	0.779122	0.41282	T	0.031082077	0.02884	0.050846245	0.08064	0.031082077	0.02884	0.050846245	0.08063	-3.216	0.12677	T	.	.	0.059	0.00806	B	.;.;.;.;.	.;.;.;.;.	1.681738	0.21430	15.20	0.97482706016679188	0.34198	0.09916	0.15561	N	AEFDBCI	0.072654	0.14508	N	-0.92770069289973	0.10198	0.4861916	-0.900780431513582	0.12075	0.6190712	0.999969015585365	0.48965	0.730579	0.87903	0	0.588015	0.36545	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	6.03	1.83	0.24279	1.154000	0.31299	2.266000	0.31796	-0.193000	0.09282	0.004000	0.16614	0.024000	0.20971	0.338000	0.25386	0.0:0.6368:0.1343:0.2289	6.048	0.18995	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1269.33	35	chr13	32262378	.	C	T	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=745;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.372;SOR=0.925	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1283,0,1707	18	0	1	0
chr13	32338400	32338400	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A4045G:p.I1349V	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	536116	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Breast-ovarian_cancer,_familial,_susceptibility_to,_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0768269955196	.	.	8.33e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs780544697	2.071e-06	2.052e-06	1.372e-06	2.779e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.026e-07	0	1.213e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.09776	T	0.982	0.02411	T	.	.	.	.	.	.	0.439464	0.12645	N	0.726429	1	0.08975	N	.	.	.	5.89	0.00629	T	-0.48	0.15379	N	0.393	0.46274	-0.9340	0.43545	T	0.002	0.00676	T	10	0.09799382	0.17686	T	0.076827	0.72626	D	0.266	0.57999	0.332	0.31843	0.580672568948	0.57738	0.05314122391390812	0.05256	0.0201121265363	0.01973	0.256766498089	0.04514	T	.	.	.	-0.171388	0.25025	T	-0.483963	0.24026	T	0.0265884014678503	0.01487	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.11461	B	.;.	.;.	-0.411713	0.02170	0.212	0.37857877597224626	0.02519	0.04034	0.09473	N	AEFDBI	0.031477	0.03376	N	-1.16421456180004	0.05550	0.2532972	-1.19266075468866	0.06032	0.2891294	0.999074294873228	0.38370	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.74	-1.97	0.07091	-0.181000	0.09734	-0.402000	0.09404	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.774000	0.36673	0.3453:0.0:0.6547:0.0	10.703	0.45136	748	0.52143	.;.	.	.	.	.	.	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	2059.33	66	chr13	32338400	.	A	G	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.562;DP=1484;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.556;SOR=0.422	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2073,0,1831	18	0	1	0
chr13	37009283	37009283	G	C	exonic	EXOSC8	.	nonsynonymous SNV	EXOSC8:NM_181503:exon11:c.G815C:p.S272T	Pontocerebellar hypoplasia, type 1C, Autosomal recessive	440	1067	13	2	0	17	0.0079033	.	.	YES	167468	not_specified|not_provided|Pontocerebellar_hypoplasia,_type_1C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081,Orphanet:2254	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.681	0.156111261184	0.0040	0.00219649	0.0040	0.0013	0.0020	0	0.0018	0.0059	0.0037	0.0031	0.003868	598	154602	rs36027220	0.0058	0.0058	0.0057	0.0058	0.0068	0.0057	0.0056	0.0067	0.0066	0.0009	0.0019	0.0008	2.528e-05	0.0031	0.0063	0.0068	0.0048	0.0024	0.0039	0.0039	0.0045	0.0034	0.0072	0.0037	0.0036	0.0067	0.0065	0.0011	0	0.0016	0.0009	0	0.0013	0.0068	0.0072	0.0024	0.0033	0.346	0.91255	T	0.514	0.92824	T	0.094	0.25382	B	0.011	0.15521	B	0.000000	0.84330	D	0.035092	1	0.81001	D	1.98	0.53716	M	0.94	0.43672	T	-0.49	0.25551	N	0.567	0.59053	-1.0172	0.24625	T	0.087	0.33857	T	10	0.005367756	0.00118	T	0.156111	0.83693	D	0.681	0.88300	.	.	0.536942225882	0.53344	0.22700345347248063	0.22615	0.148798595494	0.16780	0.54484796524	0.45130	T	0.044274	0.26764	T	-0.359845	0.04138	T	-0.279281	0.46878	T	0.113110247990743	0.13743	T	0.720328	0.33319	T	0.21581115	0.44023	0.30121014	0.56154	0.23845856	0.46724	0.29111928	0.55135	-3.871	0.21869	T	.	.	0.08	0.16626	B	.;.	.;.	3.093933	0.41671	21.4	0.89077671991549434	0.18492	0.98363	0.82018	D	AEFGBCI	0.905304	0.85667	D	0.296394383639791	0.55967	3.760755	0.446472023965022	0.64489	4.705468	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.85	5.85	0.93663	9.016000	0.93163	11.878000	0.98757	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.170	0.98157	777	0.48198	.;.	.	.	.	.	.	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	0.005544	0.000000	0.002717	0.002924	0.000000	0.043103	0.006098	0.003788	0.02632	801.33	33	chr13	37009283	.	G	C	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=686;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.278;SOR=1.104	GT:AD:DP:GQ:PL	0/1:23,31:54:99:815,0,493	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:100,44:147:55:55,0,1437	6	0	12	1
chr13	39047751	39047751	T	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.T668A:p.V223E,NHLRC3:NM_001012754:exon7:c.T869A:p.V290E	.	436	1084	2	0	0	2	0.000921659	.	.	.	2261934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.143305367025	7.7e-05	0.000199681	9.891e-05	9.63e-05	0	0	0	0.0001	0	6.062e-05	9.06e-05	14	154602	rs145374636	9.714e-05	9.713e-05	8.712e-05	0.0001	0.0007	8.377e-05	7.915e-05	0.0002	0.0001	8.961e-05	8.944e-05	0	0	0	0.0007	0.0001	0.0001	2.319e-05	9.194e-05	9.187e-05	7.71e-05	0.0001	0.0002	5.525e-05	4.362e-05	5.842e-05	4.239e-05	9.622e-05	0	6.54e-05	0	0	0	0	0.0001	0	0.0002	0.276	0.19090	T	0.29	0.21011	T	0.138	0.27452	B	0.05	0.25278	B	0.043901	0.23694	N	0.489229	1	0.08975	N	2.125	0.59049	M	-2.47	0.88997	D	-0.65	0.18877	N	0.382	0.45331	-0.6234	0.63847	T	0.424	0.76790	T	9	0.08387053	0.13996	T	0.143305	0.82563	D	0.282	0.59981	.	.	0.82247249236	0.82079	0.7440498596277144	0.74350	0.17845421502	0.20078	0.352921783924	0.18351	T	0.00251	0.01904	T	-0.118722	0.33332	T	-0.182611	0.56281	T	0.0318544868548192	0.02282	T	0.821518	0.48098	T	0.04123371	0.06034	0.073032066	0.15823	0.04123371	0.06033	0.073032066	0.15822	-1.73	0.02309	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	1.270116	0.16691	12.70	0.89921166535329822	0.19220	0.47250	0.27941	N	AEFDGBHCI	0.227862	0.35161	N	-0.760233508220074	0.14357	0.714486	-0.825587199858389	0.13875	0.7221611	0.999999943475808	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	-2.37	0.06262	1.470000	0.34963	0.362000	0.17587	0.660000	0.55035	0.740000	0.29026	0.001000	0.17328	0.478000	0.28520	0.1271:0.3502:0.0:0.5227	5.318	0.15174	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	742.33	36	chr13	39047751	.	T	A	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=750;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-1.326;SOR=0.885	GT:AD:DP:GQ:PL	0/1:78,36:114:99:756,0,1975	18	0	1	0
chr13	39047786	39047786	A	C	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.A703C:p.I235L,NHLRC3:NM_001012754:exon7:c.A904C:p.I302L	.	430	1090	2	0	0	2	0.00091659	.	.	.	2261778	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.0881059642491	7.7e-05	0.000199681	9.893e-05	9.63e-05	0	0	0	0.0001	0	6.061e-05	9.06e-05	14	154602	rs145181998	9.714e-05	9.782e-05	8.848e-05	0.0001	0.0007	8.376e-05	7.915e-05	0.0002	0.0001	8.961e-05	8.944e-05	0	2.519e-05	0	0.0007	0.0001	0.0001	1.159e-05	9.193e-05	9.186e-05	7.71e-05	0.0001	0.0002	5.524e-05	4.362e-05	5.843e-05	4.24e-05	9.624e-05	0	6.538e-05	0	0	0	0	0.0001	0	0.0002	0.371	0.21718	T	0.027	0.55341	D	0.005	0.12996	B	0.004	0.10090	B	0.000000	0.84330	N	0.044225	0.502039	0.31749	D	1.545	0.39105	L	-2.64	0.90147	D	-0.65	0.20358	N	0.196	0.21580	-0.1621	0.78619	T	0.609	0.86157	D	9	0.097213835	0.17492	T	0.088106	0.75069	D	0.291	0.61040	.	.	0.856168017976	0.85478	0.2967151152774672	0.29584	0.074021349871	0.08297	0.579937577248	0.50077	T	0.003229	0.02636	T	-0.174127	0.24612	T	-0.262196	0.48605	T	0.0418706648051739	0.04031	T	0.728227	0.34274	T	0.13621743	0.31585	0.10605791	0.25506	0.13621743	0.31585	0.10605791	0.25505	-2.975	0.09914	T	.	.	0.116	0.28636	B	.;.;.	.;.;.	2.236315	0.28549	17.83	0.96442035518130675	0.29834	0.85831	0.45009	D	ALL	0.285460	0.39808	N	-0.254625393472529	0.30920	1.728642	-0.155047387338805	0.33215	1.89765	0.999999982070611	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	2.9	0.32809	3.082000	0.49825	0.967000	0.23031	0.750000	0.87069	0.992000	0.37556	0.016000	0.20520	0.994000	0.71098	0.6853:0.2455:0.0693:0.0	8.350	0.31460	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	36	chr13	39047786	.	A	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=749;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-1.165;SOR=0.869	GT:AD:DP:GQ:PL	0/1:78,35:113:99:775,0,1969	18	0	1	0
chr13	41887280	41887280	C	A	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon6:c.G733T:p.V245L,VWA8:NM_015058:exon6:c.G733T:p.V245L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0342125775627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201868054	7.527e-06	7.524e-06	6.808e-06	8.253e-06	0.0016	4.04e-06	2.95e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	0	2.32e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.039	0.52389	D	0.967	0.56408	D	0.928	0.66279	D	0.000005	0.62929	D	0.000000	0.999996	0.58761	D	3.005	0.85968	M	1.55	0.29866	T	-2.07	0.47344	N	0.863	0.88356	-0.6649	0.62059	T	0.213	0.57414	T	10	0.7797898	0.77758	D	0.034213	0.55525	D	0.260	0.57221	0.558	0.67684	0.558031983626	0.55463	0.7300212241937355	0.72947	0.318032334486	0.34034	0.657621741295	0.61069	T	0.231386	0.59769	T	0.104646	0.64791	D	-0.0874604	0.64353	T	0.988149523735046	0.78518	D	0.910209	0.74231	D	0.62774473	0.74178	0.40946877	0.65235	0.62774473	0.74179	0.40946877	0.65235	-10.672	0.77981	D	.	.	0.806	0.77584	P	.;.	.;.	4.696850	0.75312	26.3	0.99772046962669092	0.86003	0.97097	0.72672	D	AEFDBI	0.716537	0.66834	D	0.812241903677076	0.86868	9.02486	0.760652621892091	0.86953	9.056802	0.999999576768718	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.046000	0.70661	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9239:0.0:0.0761	13.269	0.59583	833	0.38804	ATPase, dynein-related, AAA 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	694.33	33	chr13	41887280	.	C	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=693;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.242;SOR=0.838	GT:AD:DP:GQ:PL	0/1:27,31:58:99:708,0,544	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|1:104,30:136:99:0|1:42303096_G_C:477,0,2690:42303096	3	0	15	1
chr13	51727773	51727773	C	G	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon6:c.C581G:p.T194R	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0313557494487	0.0014	0.000199681	0.0008	9.681e-05	0.0002	0	0.0023	0.0011	0.0044	6.087e-05	0.0007827	121	154602	rs143029510	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0009	0.0010	0.0010	0.0001	0.0002	0.0012	0	0.0026	0.0016	0.0011	0.0005	3.478e-05	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0001	0	0.0003	0.0017	0	0.0017	0	0.0011	0.0005	0	0.004	0.65419	D	0.072	0.43344	T	0.153	0.28093	B	0.165	0.35019	B	0.000003	0.62929	D	0.137255	0.999991	0.58761	D	1.33	0.33268	L	0.01	0.62459	T	-4.38	0.77143	D	0.548	0.57433	-0.5539	0.66638	T	0.258	0.62900	T	10	0.031027019	0.01233	T	0.031356	0.53460	D	0.393	0.70844	.	.	0.750422274658	0.74816	0.3843780779122715	0.38352	1.09616180207	0.77583	0.606051921844	0.53759	T	0.135126	0.46676	T	-0.224401	0.17396	T	-0.108343	0.62743	T	0.12059071483831	0.14488	T	0.933007	0.74900	D	0.591797	0.72249	0.5602826	0.74559	0.591797	0.72250	0.5602826	0.74560	-12.003	0.84866	D	.	.	0.351	0.56670	A	.	.	3.876470	0.56312	23.7	0.98963745672370707	0.49383	0.94500	0.61366	D	AEFDBCI	0.774868	0.70845	D	0.169363057234123	0.49730	3.170289	0.214697907535015	0.50662	3.256	0.999999999053562	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.65	4.79	0.60909	7.520000	0.80737	5.989000	0.52298	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.991000	0.66497	0.0:0.8619:0.1381:0.0	15.569	0.76065	912	0.21483	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1206.33	41	chr13	51727773	.	C	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.646;DP=721;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.906;SOR=0.796	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1220,0,1320	18	0	1	0
chr13	52642567	52642567	A	-	exonic	HNRNPA1L2	.	frameshift deletion	HNRNPA1L2:NM_001011725:exon6:c.75delA:p.T26Lfs*5,HNRNPA1L2:NM_001011724:exon7:c.75delA:p.T26Lfs*5	.	461	1031	25	5	0	35	0.0166905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113	0.0101837	0.0059	0.0173	0.0032	0	0.0023	0.0030	0.0099	0.0173	0.0005763	15	26028	rs374312718	0.0037	0.0037	0.0032	0.0043	0.0189	0.0037	0.0036	0.0172	0.0168	0.0184	0.0036	0.0052	2.519e-05	0.0027	0.0189	0.0023	0.0051	0.0174	0.0074	0.0074	0.0073	0.0075	0.0171	0.0070	0.0069	0.0161	0.0157	0.0171	0	0.0052	0.0058	0	0.0018	0.0068	0.0031	0.0071	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018519	0.015625	0.030220	0.012931	0.000000	0.017544	0.011364	0.004098	0.02632	496.29	33	chr13	52642566	.	CA	C	496.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.621;DP=630;ExcessHet=0;FS=9.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.89;MQRankSum=0.21;QD=11.82;ReadPosRankSum=-0.731;SOR=0.761	GT:AD:DP:GQ:PL	0/1:25,17:42:99:510,0,809	18	0	1	0
chr13	52643274	52643274	A	G	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.A782G:p.N261S,HNRNPA1L2:NM_001011724:exon7:c.A782G:p.N261S	.	433	1058	27	4	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0077	.	0.0059	0.0162	0.0032	0	0.0023	0.0030	0.0107	0.0174	0.0013063	34	26028	rs342775	0.0037	0.0037	0.0032	0.0042	0.0179	0.0036	0.0036	0.0166	0.0163	0.0177	0.0036	0.0052	2.521e-05	0.0022	0.0179	0.0023	0.0051	0.0174	0.0073	0.0073	0.0072	0.0074	0.0167	0.0069	0.0068	0.0156	0.0152	0.0167	0	0.0052	0.0058	0	0.0018	0.0068	0.0032	0.0071	0.0145	0.034	0.44029	D	0.236	0.24694	T	0.707	0.42016	P	0.213	0.37437	B	.	.	.	.	0.993661	0.23670	N	1.635	0.41844	L	-2.2	0.86888	D	-2.85	0.60029	D	0.143	0.14338	-0.7107	0.59918	T	0.198	0.55286	T	9	0.006439775	0.00146	T	.	.	.	0.242	0.54781	.	.	0.515828161817	0.51224	0.8268350392294082	0.82641	.	.	0.648876965046	0.59827	T	0.02239	0.17269	T	-0.464508	0.00921	T	-0.426385	0.30345	T	0.0383935870855039	0.03402	T	0.779722	0.41422	T	0.047855284	0.08248	0.081999235	0.18680	0.047855284	0.08247	0.081999235	0.18679	-7.064	0.54500	T	.	.	0.064	0.01738	B	.	.	1.317504	0.17209	13.03	0.78058276187797782	0.12138	0.50040	0.28571	D	AEFBI	0.156216	0.28153	N	-0.436778897230713	0.24191	1.304441	-0.535110755619253	0.21202	1.145867	0.833319217850346	0.24732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	0.352	0.352	0.15287	2.062000	0.41039	0.322000	0.17195	0.198000	0.17903	1.000000	0.71638	0.116000	0.22850	0.676000	0.33425	0.9998:0.0:2.0E-4:0.0	5.098	0.14079	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017354	0.021053	0.029973	0.012295	0.000000	0.008621	0.003226	0.003937	0.02632	451.33	34	chr13	52643274	.	A	G	451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.529;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.52;MQRankSum=0.732;QD=11.01;ReadPosRankSum=-0.705;SOR=0.784	GT:AD:DP:GQ:PL	0/1:20,21:41:99:465,0,593	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	0/1:65,29:122:79:79,0,789	6	0	13	0
chr13	77698098	77698098	-	GCCGCC	exonic	SLAIN1	.	nonframeshift insertion	SLAIN1:NM_001242868:exon1:c.185_186insGCCGCC:p.P67_A68insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs557214778	2.283e-05	1.848e-05	2.101e-05	2.48e-05	5.207e-05	1.52e-05	1.27e-05	1.398e-05	1.127e-05	5.207e-05	0	0	0	0	0	2.187e-05	5.344e-05	4.387e-05	3.22e-05	2.678e-05	0	6.723e-05	0.0003	1.052e-05	6.07e-06	1.356e-05	6.76e-06	0	0	0	0	0	0	0	5.108e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	284.31	14	chr13	77698098	.	T	TGCCGCC	284.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=290;ExcessHet=0;FS=0;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=2.37;SOR=0.551	GT:AD:DP:GQ:PL	0/1:9,8:17:99:298,0,343	18	0	1	0
chr13	100626083	100626083	C	T	exonic	TMTC4	.	nonsynonymous SNV	TMTC4:NM_001286453:exon10:c.G1184A:p.R395Q,TMTC4:NM_001079669:exon12:c.G1517A:p.R506Q,TMTC4:NM_001350577:exon12:c.G1511A:p.R504Q,TMTC4:NM_001350572:exon13:c.G1517A:p.R506Q,TMTC4:NM_001350574:exon13:c.G1691A:p.R564Q,TMTC4:NM_001350576:exon13:c.G1568A:p.R523Q,TMTC4:NM_032813:exon13:c.G1574A:p.R525Q,TMTC4:NM_001350571:exon14:c.G1748A:p.R583Q	.	427	1092	3	0	0	3	0.00137174	.	.	.	2393049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.181	0.0211073154473	.	.	0.0001	0	0	0	0	5.994e-05	0.0011	0.0007	0.00011	17	154602	rs761915644	8.345e-05	8.345e-05	4.764e-05	0.0001	0.0014	7.136e-05	6.684e-05	0.0007	0.0006	2.987e-05	2.236e-05	0	0	0	0.0014	3.058e-05	6.623e-05	0.0009	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0.0005	0.0006	0.124	0.27904	T	0.228	0.25907	T	0.66	0.48822	P	0.364	0.45170	B	0.000000	0.84330	D	0.000000	0.999984	0.58761	D	1.695	0.43389	L	0.23	0.59717	T	-2.05	0.48184	N	0.721	0.76573	-0.7897	0.55747	T	0.206	0.56417	T	10	0.381083	0.54198	T	0.021107	0.43827	T	0.181	0.45247	0.497	0.58678	0.736212731169	0.73385	0.6771842024311219	0.67657	0.189387229958	0.21256	0.66056728363	0.61491	T	0.020934	0.16390	T	-0.148733	0.28511	T	-0.0592261	0.66386	T	0.079789621662878	0.09960	T	0.979602	0.93758	D	0.29281303	0.52253	0.19313791	0.42866	0.29281303	0.52253	0.19313791	0.42865	-8.609	0.65149	D	.	.	0.103	0.25199	B	.;.;.	.;.;.	4.631061	0.73628	26.0	0.99938163303955607	0.99698	0.99000	0.89771	D	AEFGBI	0.915615	0.88066	D	0.417496618449343	0.62384	4.453456	0.499082126510746	0.67931	5.150398	0.999999999999844	0.74766	0.719381	0.83141	0	0.601575	0.49859	0	0.80507	0.99327	0	0.733575	0.97253	0	.	.	5.3	5.3	0.74745	7.840000	0.85068	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	19.324	0.94242	675	0.60470	Tetratricopeptide 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	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1178.33	33	chr13	100626083	.	C	T	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=748;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.563;SOR=0.6	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1192,0,1371	18	0	1	0
chr13	102737733	102737733	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12964A:p.G4322S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000399361	0.0025	0.0009	0	0	0	0.0027	0.0105	0.0029	0.0008667	134	154602	rs201135379	0.0037	0.0036	0.0037	0.0037	0.0043	0.0036	0.0036	0.0042	0.0042	0.0008	0.0008	0.0004	5.597e-05	0.0010	0.0009	0.0043	0.0029	0.0033	0.0022	0.0022	0.0025	0.0018	0.0039	0.0020	0.0019	0.0035	0.0034	0.0008	0	0.0005	0.0012	0	0.0003	0	0.0039	0.0009	0.0025	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0057035685	0.00127	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.07433698046328129	0.07369	.	.	0.245546251535	0.03313	T	.	.	.	-0.488312	0.00664	T	-0.472974	0.25198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	0.196141	0.05818	2.257	0.37996960343091668	0.02537	0.00402	0.02007	N	AEFBI	.	.	.	.	.	.	.	.	.	0.940105724638575	0.27417	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.82	-1.19	0.09091	0.044000	0.13876	-6.220000	0.01461	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2399:0.3529:0.2366:0.1706	0.697	0.00844	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	.	.	.	.	.	.	.	.	0.02632	2856.33	68	chr13	102737733	.	C	T	2856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=2529;ExcessHet=0;FS=2.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=1.55;SOR=0.929	GT:AD:DP:GQ:PL	0/1:79,96:175:99:2870,0,2151	18	0	1	0
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	0/1:168,67:245:99:273,0,3966	5	0	11	3
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	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	711.33	69	chr13	113405323	.	G	A	711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1010;ExcessHet=0;FS=4.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.121;SOR=1.058	GT:AD:DP:GQ:PL	0/1:39,30:69:99:725,0,905	18	0	1	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	121.62	54	chr13	114301925	.	G	A	121.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.096;DP=1152;ExcessHet=0.119;FS=111.238;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.063;MQ=52.91;MQRankSum=-0.783;QD=0.92;ReadPosRankSum=0.896;SOR=7.327	GT:AD:DP:GQ:PL	0/1:36,15:51:99:100,0,737	14	0	2	3
chr14	18988290	18988290	T	A	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon9:c.T1278A:p.H426Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00106492131931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.361	0.16914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.25	0.11008	N	0.073	0.04668	-0.9689	0.37427	T	0.029	0.12409	T	9	0.058135957	0.06787	T	0.001065	0.01215	T	.	.	0.27	0.21893	0.0138822411134	0.00435	0.01530901113423941	0.01486	.	.	0.677658438683	0.63932	T	0.003505	0.02909	T	-0.310867	0.07672	T	-0.684315	0.06723	T	0.0450783402776309	0.04617	T	0.265573	0.04334	T	0.027877461	0.02041	0.045498837	0.06137	0.027877461	0.02041	0.045498837	0.06136	-2.176	0.03925	T	.	.	0.106	0.19478	B	.	.	-0.033665	0.04055	0.940	0.89991698510802498	0.19283	0.00032	0.00291	N	AEFI	0.015013	0.00265	N	-1.33859130497508	0.03245	0.1446082	-1.4435997008651	0.02829	0.1308339	1.63268862560209E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-1.67	0.07798	-0.316000	0.08112	.	.	0.312000	0.19173	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4185:0.0:0.0:0.5815	4.322	0.10463	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.06667	867.8	1	chr14	18988290	.	T	A	867.8	.	AC=2;AF=0.067;AN=30;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=0.8573;MLEAC=2;MLEAF=0.067;MQ=28.27;QD=25.52;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,34:34:99:891,102,0	14	1	0	4
chr14	19935887	19935887	C	G	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.C221G:p.S74C	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00106788272379	0.0011	0.000399361	0.0013	0.0002	0.0036	0	0.0008	0.0011	0.0011	0.0017	0.0010608	164	154602	rs147067678	0.0008	0.0009	0.0008	0.0008	0.0045	0.0007	0.0007	0.0032	0.0027	8.961e-05	0.0017	0.0066	0	0.0003	0.0045	0.0006	0.0013	0.0011	0.0008	0.0008	0.0007	0.0008	0.0010	0.0007	0.0006	0.0008	0.0007	0.0002	0	0.0003	0.0058	0	0.0009	0.0034	0.0010	0.0024	0.0002	0.06	0.37326	T	0.108	0.37589	T	0.998	0.73220	D	0.91	0.64641	D	0.001031	0.40562	N	0.112078	1	0.08975	N	1.715	0.44382	L	5.63	0.00800	T	-3.19	0.64593	D	0.274	0.31027	-1.0082	0.27479	T	0.010	0.03856	T	10	0.0044441223	0.00091	T	0.001068	0.01239	T	0.118	0.32913	.	.	0.42573502686	0.42190	0.28139189243566165	0.28052	0.00138996172614	0.00116	0.31244340539	0.12276	T	0.006977	0.06403	T	-0.485597	0.00687	T	-0.489318	0.23464	T	0.0559480050221536	0.06516	T	0.29547	0.05467	T	0.22023651	0.44574	0.24597196	0.50096	0.22023651	0.44574	0.24597196	0.50095	-6.727	0.52013	T	.	.	0.114	0.25914	B	.;.;.	.;.;.	4.285108	0.65301	24.8	0.97065796034949325	0.32213	0.18492	0.20282	N	AEFI	0.062781	0.12091	N	0.32433742329637	0.57400	3.907199	0.232457311076695	0.51658	3.346372	0.908363759924338	0.26283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	4.02	0.45968	1.340000	0.33501	1.228000	0.25023	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.8404:0.1595:0.0	13.265	0.59560	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.000000	0.050000	0.017241	0.009146	0.000000	0.05263	4948.83	37	chr14	19935887	.	C	G	4948.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=2738;ExcessHet=0.119;FS=2.499;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.66;SOR=0.784	GT:AD:DP:GQ:PL	0/1:214,103:317:99:2457,0,5917	17	0	2	0
chr14	20556658	20556658	C	T	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.G412A:p.E138K,RNASE9:NM_001110356:exon3:c.G412A:p.E138K,RNASE9:NM_001110357:exon3:c.G412A:p.E138K,RNASE9:NM_001110358:exon4:c.G427A:p.E143K,RNASE9:NM_001110360:exon4:c.G427A:p.E143K,RNASE9:NM_001289110:exon4:c.G412A:p.E138K,RNASE9:NM_001110359:exon5:c.G427A:p.E143K,RNASE9:NM_001110361:exon5:c.G427A:p.E143K	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00226365638764	0.0002	0.000599042	0.0007	0	0.0007	0	0	0.0005	0.0011	0.0024	0.0006404	99	154602	rs151318768	0.0004	0.0004	0.0004	0.0005	0.0106	0.0004	0.0004	0.0085	0.0077	0.0003	0.0009	0.0001	0	0	0.0106	0.0002	0.0010	0.0024	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0012	0.0011	7.213e-05	0	0.0018	0.0003	0	0	0.0068	0.0004	0.0014	0.0017	0.157	0.24468	T	0.049	0.48336	D	0.817	0.45613	P	0.555	0.49371	P	.	.	.	.	1	0.08975	N	2.005	0.54552	M	1.05	0.39990	T	-0.77	0.21429	N	0.109	0.14054	-1.0684	0.09768	T	0.077	0.30889	T	9	0.009732485	0.00219	T	0.002264	0.04314	T	0.076	0.22200	.	.	0.171388866994	0.16791	0.35025384010115873	0.34939	0.124617667741	0.14036	0.279298424721	0.07395	T	0.004526	0.03927	T	-0.611168	0.00125	T	-0.655915	0.08545	T	0.0445337345306015	0.04517	T	0.60094	0.22456	T	0.06841872	0.14904	0.05243686	0.08640	0.06841872	0.14904	0.05243686	0.08639	-3.249	0.13545	T	.	.	0.168	0.43407	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140295	0.03408	0.618	0.95839978556147964	0.27963	0.00412	0.02045	N	AEFDBI	0.034438	0.04266	N	-1.30431364748676	0.03626	0.1622773	-1.56646288661735	0.01865	0.08500237	0.999999987347841	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-7.47	0.01221	-1.442000	0.02514	-14.463000	0.00402	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2213:0.1522:0.219:0.4074	0.767	0.00952	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.008152	0.008772	0.000000	0.043103	0.000000	0.000000	0.02632	2088.33	34	chr14	20556658	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=839;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.457;SOR=0.367	GT:AD:DP:GQ:PL	0/1:53,77:130:99:2102,0,1478	18	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	145.45	35	chr14	20747837	.	G	A	145.45	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.714;DP=1476;ExcessHet=0.119;FS=206.073;InbreedingCoeff=-0.1079;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=-0.281;SOR=9.657	GT:AD:DP:GQ:PL	0/1:69,27:96:99:102,0,1583	14	0	2	3
chr14	21080754	21080754	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G326A:p.R109Q,ARHGEF40:NM_001278530:exon12:c.G326A:p.R109Q,ARHGEF40:NM_018071:exon12:c.G2468A:p.R823Q	.	396	1115	11	0	0	11	0.00490852	.	.	.	714051	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0092	0.00878594	0.0039	0.0253	0.0038	0	0.0003	0.0020	0.0057	0.0010	0.0037322	577	154602	rs61734981	0.0023	0.0023	0.0023	0.0022	0.0265	0.0022	0.0022	0.0251	0.0245	0.0265	0.0055	0.0036	0	0.0003	0.0143	0.0015	0.0047	0.0005	0.0092	0.0092	0.0092	0.0091	0.0266	0.0088	0.0086	0.0253	0.0248	0.0266	0	0.0076	0.0029	0	0.0002	0.0204	0.0019	0.0123	0.0010	0.352	0.12226	T	0.139	0.33666	T	0.136	0.27347	B	0.016	0.17743	B	0.013347	0.28869	N	0.165528	0.962772	0.26052	N	0.49	0.13296	N	4.39	0.02234	T	0.7	0.02163	N	0.146	0.14763	-0.8980	0.48195	T	0.003	0.00961	T	10	0.00621292	0.00140	T	.	.	.	0.022	0.04323	.	.	0.330589388543	0.32661	0.0707227173842482	0.07009	0.274884690193	0.29973	0.308119356632	0.11623	T	0.006533	0.05961	T	-0.659213	0.00064	T	-0.699418	0.05858	T	0.00793107673425905	0.00093	T	0.835216	0.50504	T	0.026932659	0.01815	0.03388583	0.02359	0.026932659	0.01814	0.03388583	0.02358	-4.066	0.24787	T	.	.	0.069	0.03026	B	.	.	2.004535	0.25467	16.77	0.95875339350678024	0.28060	0.48092	0.28129	N	AEFBI	0.176021	0.30321	N	-0.332402382419963	0.27925	1.535997	-0.197143582234717	0.31641	1.792593	0.946490455403056	0.27709	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.14	3.33	0.37245	1.407000	0.34266	1.638000	0.27776	0.676000	0.76740	0.679000	0.28429	0.003000	0.18671	0.995000	0.73285	0.1799:0.0:0.8201:0.0	7.757	0.28095	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	0	0	1	0	0.025176	0.090909	0.032609	0.002924	0.000000	0.008621	0.015244	0.000000	0.05263	2640.83	40	chr14	21080754	.	G	A	2640.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=849;ExcessHet=0.119;FS=1.555;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.046;SOR=0.571	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1578,0,1307	17	0	2	0
chr14	23079657	23079657	G	A	exonic	ACIN1	.	nonsynonymous SNV	ACIN1:NM_001164815:exon5:c.C1732T:p.R578C,ACIN1:NM_001164814:exon6:c.C1852T:p.R618C,ACIN1:NM_014977:exon6:c.C1852T:p.R618C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0317459635667	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs115188299	3.42e-06	3.42e-06	0	6.875e-06	5.974e-05	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.547e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.008	0.69154	D	0.996	0.77913	D	0.65	0.55359	P	0.324890	0.14210	N	0.585786	1	0.08975	N	0.805	0.20218	L	2.12	0.29342	T	-1.64	0.43717	N	0.191	0.25989	-1.0534	0.13466	T	0.074	0.29865	T	10	0.14641017	0.27759	T	0.031746	0.53753	D	0.126	0.34673	0.307	0.27806	0.335408717102	0.33150	0.323624446483598	0.32275	0.172119073416	0.19381	0.252754539251	0.04063	T	0.155616	0.49743	T	-0.250688	0.14014	T	-0.597873	0.12990	T	0.667723306542388	0.39236	D	0.770523	0.40040	T	0.16225961	0.36289	0.06645722	0.13616	0.16225961	0.36289	0.06645722	0.13616	-7.423	0.57066	T	.	.	0.093	0.27069	B	.;.;.;.	.;.;.;.	3.525554	0.49441	22.8	0.99616519192905129	0.75172	0.25030	0.22576	N	AEFBCI	0.126618	0.24364	N	-0.358643944104393	0.26955	1.475208	-0.44630513686209	0.23653	1.291068	0.999903136472185	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635259	0.50027	0	.	.	5.48	0.441	0.15789	1.332000	0.33410	1.307000	0.25513	-0.273000	0.06669	0.655000	0.28216	0.351000	0.24472	0.987000	0.62547	0.2335:0.281:0.4855:0.0	5.153	0.14348	807	0.43470	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3645.33	121	chr14	23079657	.	G	A	3645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=1652;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.505;SOR=0.692	GT:AD:DP:GQ:PL	0/1:140,139:279:99:3659,0,3545	18	0	1	0
chr14	23103736	23103736	A	C	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon4:c.T542G:p.V181G	.	603	918	1	0	0	1	0.000544366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0027	0	0.0061	0	.	0	0	0.0041	0.0002587	40	154602	rs566474675	0.0006	0.0005	0.0003	0.0008	0.0042	0.0005	0.0005	0.0038	0.0037	0	2.881e-05	0	0	0	0.0010	0.0001	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	4.411e-05	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01017651	0.00228	T	.	.	.	.	.	.	.	.	.	0.637993394475441	0.63733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29517	0.05631	T	0.36865905	0.58485	0.6549523	0.79800	0.36865905	0.58486	0.6549523	0.79801	-9.461	0.70616	D	.	.	0.435	0.61465	A	.;.;.	.;.;.	3.544899	0.49806	22.8	0.81783666043723924	0.13858	0.98803	0.87055	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999991267	0.74766	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.972864	0.75250	5.69	5.69	0.88346	6.257000	0.72439	9.077000	0.78706	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.900	0.63303	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.04545	33.33	.	chr14	23103736	.	A	C	33.33	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=-0.1315;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	10	0	1	8
chr14	23131502	23131502	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon5:c.C400T:p.H134Y,SLC7A8:NM_001267036:exon6:c.C757T:p.H253Y,SLC7A8:NM_182728:exon6:c.C463T:p.H155Y,SLC7A8:NM_012244:exon8:c.C1072T:p.H358Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.194564404984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.74150	D	0.997	0.70673	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	-2.58	0.89757	D	-3.81	0.80767	D	0.966	0.98167	0.342	0.88215	D	0.576	0.84712	D	10	0.87443686	0.86727	D	0.194564	0.86370	D	0.927	0.98229	0.619	0.75347	0.947902983698	0.94735	0.9541465314633848	0.95398	0.687941237011	0.60407	0.859738469124	0.91072	D	0.964808	0.99571	D	0.487163	0.93926	D	0.462	0.93849	D	0.995470396994292	0.87491	D	0.970103	0.97709	D	0.781557	0.82750	0.71590316	0.83232	0.781557	0.82751	0.71590316	0.83233	-9.444	0.70510	D	.	.	0.961	0.88170	P	.;.;.;.	.;.;.;.	5.004488	0.83057	27.9	0.99796855769286708	0.88194	0.99110	0.91373	D	AEFDBI	0.959787	0.98029	D	0.684706084232571	0.78631	6.910506	0.687249985628692	0.81409	7.520147	0.999999999999992	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.669	0.65921	0	.	.	5.05	5.05	0.67566	10.003000	0.99689	11.755000	0.95496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.179	0.86729	872	0.31118	.;.;.;.	.	.	.	.	.	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	945.33	53	chr14	23131502	.	G	A	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.005;DP=764;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.868;SOR=0.504	GT:AD:DP:GQ:PL	0/1:44,37:81:99:959,0,1153	18	0	1	0
chr14	23166412	23166412	C	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon2:c.G280A:p.A94T	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	0.387689154592	0.0012	0.00199681	0.0020	0.0002	0.0008	0	0	0.0019	0.0011	0.0065	0.0018176	281	154602	rs139927895	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	0.0001	0.0005	0.0010	0	0.0002	0.0066	0.0011	0.0018	0.0067	0.0012	0.0012	0.0010	0.0013	0.0099	0.0010	0.0010	0.0077	0.0069	4.812e-05	0	0.0011	0.0014	0	0.0002	0.0034	0.0015	0.0009	0.0099	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	-2.84	0.96627	D	-3.87	0.72710	D	0.974	0.98466	1.081	0.98923	D	0.945	0.98187	D	10	0.024234027	0.00966	T	0.387689	0.93117	D	0.944	0.98851	.	.	0.964823795932	0.96444	0.8698954390141063	0.86954	0.629356187497	0.56977	0.763663351536	0.76475	T	0.909111	0.98275	D	0.221776	0.75943	D	0.549096	0.95606	D	0.0682530187562695	0.08404	T	0.981102	0.99030	D	0.66472256	0.76151	0.70855004	0.82812	0.6528424	0.75517	0.6968559	0.82149	-9.879	0.73184	D	.	.	0.714	0.73529	P	.;.;.	.;.;.	5.176175	0.86775	29.0	0.99931617124976724	0.99387	0.98040	0.79094	D	AEFBI	0.947660	0.95846	D	0.936903531390315	0.93447	12.04533	0.89314823391669	0.95268	13.46263	1.0	0.98316	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.49	5.49	0.81022	7.858000	0.85341	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.514	0.90878	876	0.30350	.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.006793	0.005848	0.000000	0.017241	0.009202	0.003788	0.05263	3078.83	33	chr14	23166412	.	C	T	3078.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.643;DP=888;ExcessHet=0.119;FS=0.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.84;SOR=0.762	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1755,0,2011	17	0	2	0
chr14	24316024	24316024	T	A	exonic	LTB4R	.	nonsynonymous SNV	LTB4R:NM_001143919:exon2:c.T373A:p.S125T,LTB4R:NM_181657:exon2:c.T373A:p.S125T	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	7.7e-05	0.00299521	0.0018	9.679e-05	0.0002	0.0001	0	0.0004	0.0011	0.0116	0.0015782	244	154602	rs201954109	0.0010	0.0010	0.0006	0.0013	0.0116	0.0009	0.0009	0.0110	0.0108	5.974e-05	2.236e-05	0.0018	5.038e-05	0	0.0047	0.0002	0.0011	0.0116	0.0005	0.0005	0.0003	0.0006	0.0108	0.0004	0.0004	0.0084	0.0076	9.62e-05	0	0	0.0012	0	0	0	0.0002	0	0.0108	0.076	0.45039	T	0.059	0.45961	T	0.994	0.66517	D	0.946	0.68276	D	0.000212	0.47681	U	0.143577	0.909813	0.36381	D	2.3	0.65703	M	1.15	0.38236	T	-1.62	0.38924	N	0.46	0.49692	-0.6572	0.62399	T	0.188	0.53812	T	10	0.00976494	0.00220	T	.	.	.	0.230	0.53062	.	.	0.556935879736	0.55353	0.5395075968324747	0.53875	1.90715169542	0.92877	0.506772637367	0.39771	T	0.176496	0.52646	T	-0.468555	0.00868	T	-0.436428	0.29207	T	0.0522897894589071	0.05898	T	.	.	.	0.09875279	0.23296	0.08704763	0.20207	0.09875279	0.23295	0.08704763	0.20207	-6.565	0.50785	T	.	.	0.289	0.54768	B	.;.;.;.	.;.;.;.	3.739998	0.53550	23.4	0.98895105417383489	0.48073	0.91097	0.52854	D	AEFDGBHCI	0.461446	0.51120	N	0.631581827711271	0.75182	6.260929	0.609253609252062	0.75613	6.341266	0.999999999967339	0.74766	0.740716	0.97744	0	0.694456	0.67091	0	0.0	0.00061	3	0.721622	0.92947	0	.	.	5.89	5.89	0.94758	1.251000	0.32465	7.847000	0.70787	0.665000	0.62972	0.566000	0.27473	1.000000	0.68203	0.545000	0.30055	0.0:0.0:0.1651:0.8348	10.319	0.42933	856	0.34373	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1730.33	38	chr14	24316024	.	T	A	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.798;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.384;SOR=0.678	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1744,0,2332	18	0	1	0
chr14	24330198	24330198	C	A	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon7:c.G1028T:p.R343L,ADCY4:NM_001198592:exon8:c.G1028T:p.R343L,ADCY4:NM_139247:exon8:c.G1028T:p.R343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0310498392732	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137899348	3.42e-06	3.42e-06	4.084e-06	2.75e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.037	0.51737	D	0.008	0.14655	B	0.039	0.23607	B	0.000105	0.50451	D	0.000000	0.940766	0.81001	D	0.755	0.19153	N	-1.43	0.80730	T	-3.48	0.67941	D	0.769	0.76666	-0.6555	0.62473	T	0.287	0.65928	T	10	0.6437382	0.69205	D	0.03105	0.53222	D	0.347	0.66863	0.7	0.83684	0.896531243126	0.89550	0.6903030269312134	0.68970	0.413205879231	0.42037	0.734320282936	0.72138	T	0.678681	0.90541	D	-0.00218357	0.51353	T	-0.240913	0.50709	T	0.929565787315369	0.59371	D	.	.	.	0.32275525	0.54871	0.21722722	0.46380	0.32275525	0.54871	0.21722722	0.46379	-7.605	0.58346	D	.	.	0.253	0.48777	B	.;.;.	.;.;.	4.478161	0.69849	25.4	0.99779955931707009	0.86693	0.84102	0.43187	D	AEFBCI	0.802383	0.72783	D	-0.0531214631610897	0.39463	2.327579	0.152272406807918	0.47263	2.959134	0.999985656025856	0.51787	0.634777	0.41761	0	0.550933	0.16991	0	0.563428	0.18855	0	0.645665	0.59343	0	.	.	5.01	5.01	0.66477	4.769000	0.61997	7.712000	0.66855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1883:0.8117:0.0:0.0	10.832	0.45867	856	0.34373	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1072.33	36	chr14	24330198	.	C	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=842;ExcessHet=0;FS=4.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-2.329;SOR=1.09	GT:AD:DP:GQ:PL	0/1:39,37:76:99:1086,0,971	18	0	1	0
chr14	35870416	35870416	G	C	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911C:p.S304T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00221248419424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.313e-05	6.57e-05	1.238e-05	1.388e-05	1.451e-05	8.4e-06	6.77e-06	8.59e-06	6.95e-06	0	0	3.886e-05	0	1.89e-05	0	1.451e-05	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.07594	T	0.398	0.15109	T	0.004	0.12183	B	0.004	0.10090	B	0.000000	0.84330	D	0.111584	0.999994	0.58761	D	1.715	0.44382	L	.	.	.	-0.49	0.15578	N	0.145	0.14622	-0.9386	0.42837	T	0.178	0.52318	T	9	0.1481382	0.28058	T	0.002212	0.04178	T	0.166	0.42578	0.175	0.08135	0.307966526162	0.30417	0.5061039972548269	0.50532	0.566790619123	0.52959	0.7530849576	0.74902	T	0.012464	0.10952	T	0.020254	0.54415	T	-0.208683	0.53821	T	0.805031061172485	0.46699	D	0.820118	0.47860	T	0.18230602	0.39443	0.20176247	0.44172	0.18230602	0.39442	0.20176247	0.44171	-3.018	0.10376	T	.	.	0.077	0.06433	B	.	.	3.178248	0.43127	21.7	0.83697020226144336	0.14869	0.95612	0.65420	D	AEFGI	0.748629	0.69032	D	0.0557396435389112	0.44408	2.71533	0.285975852205076	0.54718	3.636153	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	138.23	34	chr14	35870416	.	G	C	138.23	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.816;DP=1899;ExcessHet=0.119;FS=216.881;InbreedingCoeff=-0.1362;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.202;SOR=10.525	GT:AD:DP:GQ:PL	0/1:88,33:121:61:61,0,1431	12	0	2	5
chr14	38210559	38210582	GCTCTGAGCCCGGGCCACGCAGGG	-	exonic	SSTR1	.	nonframeshift deletion	SSTR1:NM_001049:exon3:c.1170_1193del:p.T390T	.	430	913	143	27	9	206	0.0973801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0033	0.0236	0.0026	0.0063	0	0.0006	0	0.0018	0.00146	38	26028	rs571084167	0.0014	0.0014	0.0014	0.0013	0.0207	0.0013	0.0013	0.0194	0.0188	0.0207	0.0021	0.0002	0.0072	0.0001	0.0017	0.0005	0.0024	0.0021	0.0072	0.0072	0.0073	0.0071	0.0228	0.0068	0.0067	0.0216	0.0211	0.0228	0	0.0030	0	0.0069	9.808e-05	0.0069	0.0005	0.0070	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1243.51	26	chr14	38210558	.	CGCTCTGAGCCCGGGCCACGCAGGG	C	1243.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.024;SOR=0.582	GT:AD:DP:GQ:PL	0/1:31,15:46:99:513,0,1159	18	0	1	0
chr14	50116518	50116518	G	A	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_001040662:exon1:c.C35T:p.P12L,VCPKMT:NM_024558:exon1:c.C35T:p.P12L	.	424	1092	5	1	0	7	0.00319489	.	.	.	2331863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00628124004761	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0012	0	0.0001746	27	154602	rs149656377	0.0001	0.0001	0.0001	0.0001	0.0069	9.878e-05	9.287e-05	0.0052	0.0046	2.989e-05	0.0004	0.0007	2.521e-05	0	0.0069	5.757e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	7.57e-05	6.276e-05	0.0001	8.281e-05	0	0	0.0003	0.0006	0.0002	0	0	0.0001	0	0	0.341	0.13436	T	0.382	0.17531	T	0.0	0.02946	B	0.0	0.01387	B	0.054831	0.22691	N	0.501723	0.999999	0.08975	N	1.445	0.36358	L	2.01	0.28604	T	-1.95	0.45222	N	0.221	0.24758	-1.0250	0.22083	T	0.028	0.11882	T	10	0.017997295	0.00388	T	0.006281	0.16493	T	0.029	0.06676	.	.	0.134241683229	0.13084	0.7865362964670163	0.78605	0.00633001268636	0.00551	0.458543181419	0.33110	T	0.004598	0.04008	T	-0.437354	0.01340	T	-0.549849	0.17341	T	0.0243842685526391	0.01193	T	0.857914	0.54791	D	0.10289829	0.24318	0.07060506	0.15022	0.10289829	0.24317	0.07060506	0.15021	-4.558	0.31640	T	.	.	0.156	0.40180	B	.;.	.;.	1.620767	0.20700	14.87	0.9549565548306298	0.27077	0.01529	0.05035	N	ALL	0.075382	0.15136	N	-0.90233775004609	0.10787	0.5172327	-0.824778191544577	0.13895	0.7232802	0.999999999999931	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	1.91	0.24841	0.858000	0.27500	2.888000	0.35372	0.676000	0.76740	0.012000	0.18695	0.434000	0.24870	0.400000	0.26782	0.1344:0.1367:0.5457:0.1832	4.607	0.11772	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.001359	0.017544	0.000000	0.017241	0.003049	0.000000	0.02632	2604.33	35	chr14	50116518	.	G	A	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.811;DP=909;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.115;SOR=0.853	GT:AD:DP:GQ:PL	0/1:108,115:223:99:2618,0,2637	18	0	1	0
chr14	54967354	54967354	G	T	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon16:c.C1735A:p.P579T,WDHD1:NM_007086:exon17:c.C2104A:p.P702T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.114186423784	.	.	8.244e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs748778959	7.533e-06	7.524e-06	1.363e-06	1.376e-05	4.64e-05	4.04e-06	2.96e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	4.501e-06	3.318e-05	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.465	0.71551	M	-0.27	0.72237	T	-7.01	0.93764	D	0.948	0.97643	0.404	0.89160	D	0.622	0.86705	D	10	0.90006703	0.89366	D	0.114186	0.79295	D	0.745	0.91198	0.716	0.85141	0.912907702155	0.91203	0.7595711650292402	0.75905	0.292833755154	0.31705	0.760838508606	0.76054	T	0.363142	0.72893	T	0.233586	0.77058	D	0.279282	0.87088	D	0.979832530021667	0.73038	D	0.950905	0.81262	D	0.92919356	0.94157	0.87627053	0.93301	0.92919356	0.94158	0.87627053	0.93302	-13.296	0.90545	D	.	.	0.961	0.88170	P	.;.	.;.	5.031540	0.83682	28.1	0.99787258688260816	0.87308	0.99271	0.93751	D	AEFGBI	0.891290	0.82713	D	0.969489984729422	0.94727	12.98926	0.904863270293184	0.95781	13.96173	0.999999997704073	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	9.352000	0.96480	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.039	0.92972	716	0.55970	Minichromosome loss protein Mcl1, middle region;.	.	.	.	.	.	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	906.33	34	chr14	54967354	.	G	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.162;SOR=0.663	GT:AD:DP:GQ:PL	0/1:45,39:84:99:920,0,1101	18	0	1	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	0/1:38,19:57:46:46,0,676	3	0	16	0
chr14	61776098	61776098	A	G	exonic	SNAPC1	.	nonsynonymous SNV	SNAPC1:NM_003082:exon5:c.A538G:p.M180V	.	447	1073	1	1	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0103847533233	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs538540322	0.0001	0.0001	3.908e-05	0.0002	0.0017	8.879e-05	8.354e-05	0.0015	0.0014	0	0	0	0	0	0.0006	2.728e-06	6.815e-05	0.0017	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.019	0.50132	D	0.041	0.50514	D	0.509	0.37289	P	0.131	0.32951	B	0.000016	0.62929	D	0.176508	1	0.81001	D	1.445	0.36358	L	.	.	.	-0.82	0.22508	N	0.359	0.40063	-0.8785	0.49880	T	0.137	0.45299	T	9	0.03183946	0.01325	T	0.010385	0.26850	T	0.116	0.32463	0.579	0.70476	0.181679512989	0.17746	0.40513284462502613	0.40429	0.0612871129364	0.06824	0.619510889053	0.55660	T	0.01004	0.09096	T	-0.288144	0.09824	T	-0.216754	0.53048	T	0.0887113923756241	0.11064	T	0.755524	0.37862	T	0.16485406	0.36720	0.1466446	0.34735	0.16485406	0.36720	0.1466446	0.34734	-2.299	0.04549	T	.	.	0.202	0.42664	B	.	.	3.176262	0.43098	21.7	0.98343378257101788	0.40467	0.90830	0.52340	D	AEFGBI	0.374639	0.45947	N	0.122241576224574	0.47503	2.975025	0.260006218083524	0.53220	3.492093	0.999999182033389	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	2.830000	0.47837	6.972000	0.57094	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.621000	0.31922	0.8558:0.1442:0.0:0.0	12.910	0.57571	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	chr14	61776098	.	A	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=757;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.897;SOR=0.588	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1564,0,1889	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	0/1:114,42:156:99:.:.:165,0,2124:.	2	0	15	2
chr14	64487350	64487350	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G881A:p.C294Y,ZBTB25:NM_006977:exon3:c.G881A:p.C294Y,ZBTB25:NM_001354682:exon4:c.G998A:p.C333Y,ZBTB25:NM_001354684:exon4:c.G881A:p.C294Y,ZBTB25:NM_001354687:exon4:c.G881A:p.C294Y,ZBTB25:NM_001354685:exon5:c.G881A:p.C294Y,ZBTB25:NM_001304507:exon6:c.G881A:p.C294Y,ZBTB25:NM_001354686:exon6:c.G881A:p.C294Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	2356791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0056944585061	7.7e-05	.	0.0001	0	8.657e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs374600794	6.567e-05	6.567e-05	6.262e-05	6.876e-05	0.0005	5.495e-05	5.107e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	6.385e-05	8.279e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0007	7.573e-05	6.279e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	8.82e-05	0.0005	0	0.095	0.31235	T	0.167	0.30729	T	0.042	0.21471	B	0.037	0.23121	B	0.007562	0.31319	N	0.374639	0.994	0.81001	D	0.695	0.17993	N	1.61	0.28391	T	-1.25	0.31576	N	0.35	0.55886	-1.0908	0.05400	T	0.067	0.27468	T	10	0.078775644	0.12596	T	0.005694	0.14742	T	0.185	0.45933	.	.	0.357724736475	0.35387	0.40884105370116797	0.40800	0.269474927048	0.29467	0.486367613077	0.36935	T	0.149096	0.48795	T	-0.244178	0.14820	T	-0.333476	0.41082	T	0.0393709194902363	0.03577	T	0.733627	0.34942	T	0.11307704	0.26709	0.13780625	0.32929	0.11307704	0.26709	0.13780625	0.32928	-3.595	0.17785	T	.	.	0.073	0.04517	B	.;.	.;.	2.910845	0.38609	20.8	0.96735409789671212	0.30902	0.93131	0.57407	D	AEFGBI	.	.	.	-0.121541141850825	0.36456	2.107444	0.0560985653186133	0.42367	2.561358	0.999999999958445	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.587000	0.53705	5.999000	0.52457	0.599000	0.40250	0.346000	0.25726	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	20.490	0.99205	372	0.84213	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	5033.81	33	chr14	64487350	.	C	T	5033.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.12;SOR=1.164	GT:AD:DP:GQ:PL	1/1:0,152:152:99:5061,456,0	18	1	0	0
chr14	64741976	64741976	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon16:c.G2459A:p.G820E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00827492733471	.	.	8.962e-06	0	0	0	0	1.577e-05	0	0	6.5e-06	1	154602	rs774028522	9.837e-06	1.026e-05	1.113e-05	8.516e-06	1.279e-05	5.71e-06	4.47e-06	7.42e-06	5.81e-06	0	0	0	0	0	0	1.279e-05	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	1.0	0.00964	T	0.374	0.18395	T	0.105	0.58535	B	0.068	0.55268	B	0.009280	0.30438	N	0.285126	0.999954	0.19486	N	1.3	0.32576	L	1.69	0.27184	T	-0.95	0.25332	N	0.164	0.17278	-0.9243	0.44957	T	0.133	0.44603	T	10	0.040209442	0.02571	T	0.008275	0.21903	T	0.093	0.26882	0.135	0.03920	0.410071178582	0.40619	0.17490095114607093	0.17409	0.183954302833	0.20688	0.300851225853	0.10528	T	0.005582	0.19734	T	-0.247818	0.14367	T	-0.510885	0.21224	T	0.308999359607697	0.25373	T	0.752425	0.37456	T	0.046343297	0.07740	0.055646274	0.09800	0.046343297	0.07740	0.055646274	0.09800	-6.131	0.51183	T	.	.	0.103	0.20038	B	.;.;.;.	.;.;.;.	0.788554	0.11589	8.180	0.61554415210685276	0.06738	0.04136	0.09618	N	AEFDBI	0.039619	0.05780	N	-0.565108893289034	0.20013	1.051844	-0.592305331467868	0.19692	1.05772	0.836303828693707	0.24785	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.97	3.14	0.35196	0.866000	0.27608	2.916000	0.35536	0.676000	0.76740	0.396000	0.26137	0.999000	0.35428	0.690000	0.33838	0.2124:0.1385:0.5061:0.143	2.100	0.03455	407	0.82314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	38	chr14	64741976	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.137;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.726;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1275,0,1010	18	0	1	0
chr14	73898239	73898239	A	G	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon4:c.A338G:p.K113R,ZNF410:NM_001242926:exon5:c.A557G:p.K186R,ZNF410:NM_021188:exon5:c.A557G:p.K186R,ZNF410:NM_001242924:exon6:c.A608G:p.K203R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00683816428383	.	.	8.245e-05	0	0	0	0	0.0001	0.0022	6.066e-05	7.12e-05	11	154602	rs756153694	3.899e-05	3.899e-05	3.267e-05	4.538e-05	0.0002	3.047e-05	2.783e-05	1.779e-05	1.03e-05	0	6.708e-05	0.0007	0	0	0.0002	1.889e-05	0.0002	4.638e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.1	0.33585	T	0.296	0.22223	T	0.0	0.02946	B	0.002	0.06944	B	0.000773	0.41888	D	0.000000	0.92053	0.81001	D	1.085	0.27262	L	3.07	0.08634	T	-0.65	0.24026	N	0.178	0.21319	-1.0180	0.24366	T	0.030	0.12979	T	10	0.09961218	0.18089	T	0.006838	0.18093	T	0.051	0.14325	0.407	0.44066	0.262679179196	0.25893	0.36378042493170876	0.36292	0.513051417295	0.49314	0.618372559547	0.55499	T	0.050928	0.28734	T	-0.421715	0.01668	T	-0.639941	0.09674	T	0.102384967216176	0.12617	T	0.932007	0.75759	D	0.058180254	0.11674	0.08600172	0.19895	0.058180254	0.11673	0.08600172	0.19894	-3.741	0.19925	T	.	.	0.125	0.34294	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.387314	0.46878	22.4	0.9980697036975279	0.89085	0.94076	0.60040	D	AEFGBI	0.347418	0.44189	N	-0.000915948448349246	0.41813	2.50785	0.0995906721447063	0.44527	2.732869	0.995280651451073	0.34045	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	3.9	0.44240	3.667000	0.54283	9.202000	0.79188	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.9252:0.0:0.0748:0.0	10.720	0.45234	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1162.33	42	chr14	73898239	.	A	G	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.553;DP=743;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.852;SOR=0.813	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1176,0,1011	18	0	1	0
chr14	74292307	74292307	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon8:c.G309C:p.E103D,ABCD4:NM_001353607:exon8:c.G309C:p.E103D,ABCD4:NM_001353594:exon9:c.G786C:p.E262D,ABCD4:NM_001353597:exon9:c.G633C:p.E211D,ABCD4:NM_001353598:exon9:c.G621C:p.E207D,ABCD4:NM_001353601:exon9:c.G621C:p.E207D,ABCD4:NM_001353603:exon9:c.G309C:p.E103D,ABCD4:NM_001353606:exon9:c.G309C:p.E103D,ABCD4:NM_001353608:exon9:c.G309C:p.E103D,ABCD4:NM_001353591:exon10:c.G972C:p.E324D,ABCD4:NM_001353592:exon10:c.G972C:p.E324D,ABCD4:NM_001353593:exon10:c.G837C:p.E279D,ABCD4:NM_001353596:exon10:c.G684C:p.E228D,ABCD4:NM_001353599:exon10:c.G621C:p.E207D,ABCD4:NM_001353600:exon10:c.G621C:p.E207D,ABCD4:NM_001353602:exon10:c.G309C:p.E103D,ABCD4:NM_001353605:exon10:c.G309C:p.E103D,ABCD4:NM_001353609:exon10:c.G309C:p.E103D,ABCD4:NM_001353610:exon10:c.G309C:p.E103D,ABCD4:NM_020324:exon10:c.G621C:p.E207D,ABCD4:NM_001353595:exon11:c.G684C:p.E228D,ABCD4:NM_005050:exon11:c.G1098C:p.E366D,ABCD4:NM_020325:exon11:c.G1098C:p.E366D	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0313177043956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.490686	0.12061	N	0.793165	0.999999	0.08975	N	0.665	0.16292	N	-3.43	0.94388	D	-0.07	0.08033	N	0.12	0.11054	-0.3411	0.73812	T	0.673	0.88692	D	10	0.07790637	0.12351	T	0.031318	0.53429	D	0.323	0.64522	0.239	0.17065	0.748608232304	0.74633	0.655960036237651	0.65532	0.219960646079	0.24538	0.294814676046	0.09631	T	0.033863	0.23088	T	0.0693632	0.60772	D	-0.138141	0.60280	T	0.0512141905938633	0.05712	T	0.615438	0.23533	T	0.031086242	0.02887	0.04019059	0.04286	0.031086242	0.02886	0.04019059	0.04285	-3.285	0.13545	T	.	.	0.079	0.07083	B	.	.	0.788290	0.11583	8.177	0.98595107481243183	0.43427	0.15699	0.19039	N	AEFDGBI	0.107624	0.21436	N	-0.954098764595777	0.09601	0.4550979	-0.932303669504644	0.11334	0.5767865	0.997256478229083	0.35425	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.26	-0.118	0.12887	0.077000	0.14593	-1.066000	0.06436	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.617000	0.31819	0.0:0.2825:0.5348:0.1826	7.791	0.28287	491	0.76657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2053.33	90	chr14	74292307	.	C	G	2053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=1236;ExcessHet=0;FS=10.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.718;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,54:119:99:0|1:74292303_C_T:2067,0,2513:74292303	18	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.05263	1055.83	34	chr14	75437912	.	C	A	1055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.256;DP=624;ExcessHet=0.119;FS=3.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=1.96;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,14:29:99:0|1:75437911_T_C:543,0,588:75437911	17	0	2	0
chr14	75766134	75766134	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon20:c.A1781G:p.D594G	Cone-rod dystrophy 19, Autosomal recessive	418	1094	10	0	0	10	0.00454959	.	.	.	841796	Cone-rod_dystrophy_19|not_provided|TTLL5-related_disorder	MONDO:MONDO:0014372,MedGen:C4014501,OMIM:615860,Orphanet:1872|MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0228775727496	0.0002	0.000399361	0.0004	9.626e-05	8.685e-05	0	0	0.0002	0	0.0022	0.0003881	60	154602	rs148938066	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	8.961e-05	0.0003	0	0	0	0.0033	0.0002	0.0004	0.0019	0.0001	0.0001	0.0001	0.0001	0.0010	8.657e-05	7.25e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0010	0.027	0.72154	D	0.04	0.53788	D	0.449	0.47190	B	0.306	0.45080	B	0.858389	0.08913	N	0.941181	1	0.81001	D	0.69	0.16971	N	3.75	0.27331	T	-0.74	0.20791	N	0.264	0.32481	-1.0263	0.21658	T	0.084	0.32814	T	10	0.012062013	0.00261	T	0.022878	0.45806	T	0.086	0.25016	.	.	0.149567049428	0.14543	0.4038486818902882	0.40300	0.305461879015	0.32852	0.511074185371	0.40372	T	0.02169	0.31686	T	-0.389775	0.02700	T	-0.339445	0.40406	T	0.0438474885279839	0.04392	T	0.89911	0.64631	D	0.08833851	0.20604	0.08195424	0.18668	0.08833851	0.20604	0.08195424	0.18667	-4.18	0.26461	T	0.08822243107869802	0.05263	0.128	0.27613	B	.;.;.;.	.;.;.;.	3.284873	0.45021	22.1	0.99573810463738754	0.72561	0.98198	0.80457	D	AEFGBI	0.477439	0.52043	N	0.255832971853043	0.53927	3.559785	0.332699705668021	0.57470	3.912942	0.975617111670009	0.29649	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	4.964000	0.63410	6.244000	0.55301	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.988	0.58004	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	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1596.33	40	chr14	75766134	.	A	G	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=849;ExcessHet=0;FS=2.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.627;SOR=0.548	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1610,0,1716	18	0	1	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	417.72	34	chr14	87947880	.	T	G	417.72	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.843;DP=647;ExcessHet=1.3;FS=151.533;InbreedingCoeff=-0.2114;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=2.84;SOR=8.318	GT:AD:DP:GQ:PL	0/1:23,12:35:97:97,0,417	11	0	5	3
chr14	88468248	88468248	T	G	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon19:c.A3414C:p.R1138S	.	412	1088	19	3	0	25	0.0113585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0018	0.00419329	0.0037	0.0005	0.0008	0.0003	0	0.0023	0.0055	0.0165	0.0034346	531	154602	rs151002751	0.0032	0.0032	0.0027	0.0036	0.0145	0.0031	0.0031	0.0138	0.0136	0.0004	0.0008	0.0001	0.0004	0.0002	0.0055	0.0028	0.0027	0.0145	0.0021	0.0021	0.0018	0.0023	0.0154	0.0019	0.0018	0.0126	0.0115	0.0005	0	0.0007	0	0.0006	0.0002	0.0034	0.0029	0.0024	0.0154	0.045	0.40832	D	0.564	0.08991	T	0.32	0.32998	B	0.129	0.32841	B	0.000172	0.48594	D	0.169817	0.550628	0.31337	N	0.765	0.19305	N	2.65	0.12676	T	-1.61	0.38734	N	0.525	0.55453	-1.0206	0.23519	T	0.034	0.14813	T	10	0.009127945	0.00206	T	.	.	.	0.180	0.45073	0.549	0.66436	0.470730462751	0.46701	.	.	0.540124399563	0.51215	0.39466765523	0.24325	T	0.140534	0.47512	T	-0.339958	0.05391	T	-0.248129	0.50001	T	0.0201140731745783	0.00712	T	0.848915	0.53103	T	0.13260892	0.30873	0.087263756	0.20272	0.13260892	0.30873	0.087263756	0.20272	-3.114	0.11457	T	.	.	0.252	0.48695	B	.;.	.;.	2.381893	0.30579	18.48	0.97150366557946433	0.32581	0.83105	0.42251	D	AEFDBI	0.201898	0.32852	N	-0.246728932481516	0.31234	1.749353	-0.181199872314905	0.32228	1.831476	0.999977264098003	0.50053	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.05	2.56	0.29842	0.991000	0.29255	0.888000	0.22449	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.913000	0.44837	0.0:0.1952:0.1698:0.635	4.386	0.10751	652	0.62785	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.002717	0.011696	0.000000	0.008621	0.006098	0.034091	0.05263	1924.83	39	chr14	88468248	.	T	G	1924.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=752;ExcessHet=0.119;FS=0.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.582;SOR=0.766	GT:AD:DP:GQ:PL	0/1:45,31:76:99:847,0,1209	17	0	2	0
chr14	91610481	91610481	G	C	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon21:c.C2597G:p.P866R	.	442	1078	2	0	0	2	0.000926784	0.9944	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.11643856533	0.0042	.	0.0032	0.0013	0.0014	0	0.0006	0.0050	0.0011	0.0010	0.0031565	488	154602	rs149037988	0.0041	0.0041	0.0042	0.0041	0.0049	0.0041	0.0040	0.0048	0.0047	0.0010	0.0023	0.0055	0	0.0003	0.0046	0.0049	0.0034	0.0009	0.0031	0.0031	0.0034	0.0029	0.0048	0.0029	0.0028	0.0044	0.0042	0.0014	0.0208	0.0026	0.0052	0	0.0007	0	0.0048	0.0029	0.0006	0.003	0.68238	D	0.025	0.56192	D	1.0	0.90584	D	1.0	0.97372	D	0.003386	0.35013	N	0.130665	0.99658	0.43291	D	2.75	0.80375	M	0.15	0.60734	T	-6.65	0.92260	D	0.611	0.62781	-0.4108	0.71685	T	0.287	0.65841	T	10	0.0194996	0.00436	T	0.116439	0.79592	D	0.322	0.64420	.	.	0.844047955027	0.84255	0.6907491671347212	0.69014	0.825720942332	0.67392	0.61766731739	0.55399	T	0.379548	0.74227	T	-0.251265	0.13944	T	-0.132196	0.60786	T	0.0352506897643121	0.02851	T	.	.	.	0.6672615	0.76286	0.72803104	0.83932	0.6672615	0.76287	0.72803104	0.83933	-3.993	0.23699	T	.	.	0.787	0.76700	P	.	.	5.370896	0.90040	31	0.99853073756254151	0.93191	0.95845	0.66400	D	AEFI	0.799803	0.72596	D	0.738241407624596	0.82136	7.689054	0.728908779629844	0.84573	8.329967	0.979118365915115	0.29993	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	4.955000	0.63343	11.649000	0.93865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	15.444	0.74935	898	0.25240	.	.	.	.	.	.	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	1139.33	44	chr14	91610481	.	G	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=768;ExcessHet=0;FS=3.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.947;SOR=1.082	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1153,0,1422	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	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	0/1:61,58:119:99:773,0,901	1	0	17	1
chr14	100123541	100123541	C	A	exonic	EVL	.	nonsynonymous SNV	EVL:NM_001330221:exon4:c.C355A:p.P119T,EVL:NM_016337:exon4:c.C361A:p.P121T	.	426	1091	5	0	0	5	0.00228624	.	.	.	2378848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.112617856443	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs141817237	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0001	0.0007	2.519e-05	0	0.0019	8.634e-05	0.0003	0.0006	0.0001	0.0001	0.0001	8.058e-05	0.0002	7.087e-05	5.744e-05	0.0001	7.895e-05	0	0	0	0.0006	0	0	0.0068	0.0002	0	0.0002	0.004	0.91255	D	0.051	0.52060	T	0.201	0.90584	B	0.118	0.86255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	-0.69	0.78860	T	-5.77	0.91609	D	0.477	0.55106	0.292	0.87427	D	0.633	0.87127	D	10	0.14647883	0.27771	T	0.112618	0.79083	D	0.314	0.63588	.	.	0.733819335902	0.73144	0.2953604586173116	0.29449	0.662172756864	0.58958	0.480947971344	0.36187	T	0.65838	0.89718	D	-0.128531	0.31733	T	-0.0649176	0.65987	T	0.713741898536682	0.41384	D	0.893211	0.91493	D	0.59055734	0.72181	0.43985692	0.67324	0.59055734	0.72182	0.43985692	0.67325	-9.041	0.67961	D	.	.	0.070	0.08997	B	.;.;.;.;.;.	.;.;.;.;.;.	3.943087	0.57716	23.9	0.99331312211431155	0.59777	0.96475	0.69324	D	AEFDBI	0.485392	0.52500	N	0.533543245372391	0.69087	5.307397	0.541970309419874	0.70841	5.564801	0.999999999980973	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.693117	0.63056	0	0.727631	0.95156	0	.	.	5.22	5.22	0.72285	3.746000	0.54846	4.794000	0.44921	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.488	0.75310	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	985.33	34	chr14	100123541	.	C	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.981;DP=697;ExcessHet=0;FS=4.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.349;SOR=1.27	GT:AD:DP:GQ:PL	0/1:32,37:69:99:999,0,788	18	0	1	0
chr14	102209542	102209542	G	A	exonic	WDR20	.	nonsynonymous SNV	WDR20:NM_001242416:exon2:c.G1189A:p.V397I,WDR20:NM_001353659:exon2:c.G1225A:p.V409I,WDR20:NM_001353665:exon2:c.G853A:p.V285I,WDR20:NM_001353671:exon2:c.G853A:p.V285I,WDR20:NM_181308:exon2:c.G1189A:p.V397I,WDR20:NM_001242418:exon3:c.G1408A:p.V470I,WDR20:NM_001353656:exon3:c.G1372A:p.V458I,WDR20:NM_001353657:exon3:c.G1372A:p.V458I,WDR20:NM_001353662:exon3:c.G853A:p.V285I,WDR20:NM_001353664:exon3:c.G853A:p.V285I,WDR20:NM_001353668:exon3:c.G853A:p.V285I,WDR20:NM_001353674:exon3:c.G853A:p.V285I,WDR20:NM_001353675:exon3:c.G601A:p.V201I,WDR20:NM_001353676:exon3:c.G601A:p.V201I,WDR20:NM_001353678:exon3:c.G601A:p.V201I,WDR20:NM_144574:exon3:c.G1372A:p.V458I,WDR20:NM_181291:exon3:c.G1372A:p.V458I,WDR20:NM_001242417:exon4:c.G1465A:p.V489I,WDR20:NM_001330228:exon4:c.G1465A:p.V489I,WDR20:NM_001353658:exon4:c.G1222A:p.V408I,WDR20:NM_001353660:exon4:c.G1222A:p.V408I,WDR20:NM_001353661:exon4:c.G979A:p.V327I,WDR20:NM_001353663:exon4:c.G853A:p.V285I,WDR20:NM_001353666:exon4:c.G853A:p.V285I,WDR20:NM_001353669:exon4:c.G853A:p.V285I,WDR20:NM_001353670:exon4:c.G853A:p.V285I,WDR20:NM_001353672:exon4:c.G853A:p.V285I,WDR20:NM_001353677:exon4:c.G601A:p.V201I,WDR20:NM_001353667:exon5:c.G853A:p.V285I,WDR20:NM_001353673:exon5:c.G853A:p.V285I	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0287356995958	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004398	68	154602	rs553080667	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	0	5.616e-05	0.0003	4.496e-06	0.0002	0.0035	9.851e-05	9.843e-05	7.711e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0	0.0029	0.799	0.04521	T	1.0	0.01155	T	0.452	0.36118	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.62	0.15745	N	0.28	0.59037	T	-0.03	0.07590	N	0.601	0.65587	-0.8150	0.54244	T	0.237	0.60379	T	10	0.010781616	0.00238	T	0.028736	0.51367	D	0.127	0.34888	0.296	0.26041	0.283272178027	0.27931	0.2753483913352321	0.27447	0.392990782166	0.40477	0.662496209145	0.61766	T	0.119777	0.44155	T	-0.388891	0.02735	T	-0.332865	0.41149	T	0.261149317056026	0.23365	T	0.89551	0.63622	D	0.08042117	0.18425	0.111242004	0.26832	0.08042117	0.18425	0.111242004	0.26831	-4.363	0.30362	T	.	.	0.083	0.13597	B	.;.;.;.;.;.	.;.;.;.;.;.	3.822521	0.55204	23.6	0.91176584905709135	0.20431	0.98952	0.89087	D	AEFGBHCIJ	0.872408	0.79425	D	0.188292786218623	0.50637	3.251804	0.395704345601874	0.61298	4.328163	0.999999999999042	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.536000	0.97139	11.834000	0.97615	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.902	0.96993	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2942.33	33	chr14	102209542	.	G	A	2942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=885;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.049;SOR=0.814	GT:AD:DP:GQ:PL	0/1:125,110:235:99:2956,0,3320	18	0	1	0
chr14	103468064	103468064	A	G	exonic	MARK3	.	nonsynonymous SNV	MARK3:NM_001128921:exon11:c.A905G:p.N302S,MARK3:NM_001128918:exon12:c.A1142G:p.N381S,MARK3:NM_001128919:exon12:c.A1142G:p.N381S,MARK3:NM_002376:exon12:c.A1142G:p.N381S	.	.	.	.	.	.	.	.	.	.	.	2357307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0089971037841	.	.	4.141e-05	0	8.64e-05	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs747903624	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	0	2.238e-05	0	2.519e-05	0	0.0005	1.079e-05	1.656e-05	1.16e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.02698	T	1.0	0.01155	T	0.001	0.13644	B	0.006	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	0.99	0.25021	L	1.61	0.28391	T	-1.48	0.36189	N	0.329	0.38129	-1.0930	0.05051	T	0.046	0.19919	T	10	0.09306377	0.16438	T	0.008997	0.23702	T	0.052	0.14661	0.351	0.34922	0.430239905395	0.42638	0.38286696852957824	0.38201	0.745215368808	0.63480	0.740982830524	0.73118	T	0.263611	0.63531	T	-0.3218	0.06752	T	-0.592363	0.13461	T	0.113313920795918	0.13764	T	0.964804	0.86967	D	0.1856838	0.39942	0.19454992	0.43084	0.1856838	0.39941	0.19454992	0.43084	-2.398	0.05120	T	.	.	0.084	0.09868	B	.;.;.;.;.;.	.;.;.;.;.;.	3.071779	0.41293	21.3	0.19034541872554214	0.00625	0.93789	0.59195	D	AEFBI	0.532079	0.55209	D	-0.530848096809043	0.21088	1.116584	-0.334232975225034	0.27001	1.495269	0.0627642754299276	0.15273	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.61	0.56724	6.179000	0.71907	3.988000	0.40963	-0.591000	0.04649	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.923:0.0:0.077:0.0	10.976	0.46679	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	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	1029.33	33	chr14	103468064	.	A	G	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.766;DP=716;ExcessHet=0;FS=2.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.866;SOR=0.42	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1043,0,1466	18	0	1	0
chr14	104175351	104175351	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2563A:p.E855K	.	428	1090	4	0	0	4	0.0018315	.	.	.	2356767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.368	0.542490879858	.	0.000199681	0.0001	0	0.0002	0	0	7.157e-05	0	0.0004	9.7e-05	15	154602	rs369714040	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	6.729e-05	0	0	0	0.0005	0.0002	0.0002	0.0005	7.878e-05	8.53e-05	6.423e-05	9.399e-05	0.0008	4.493e-05	3.509e-05	0.0003	0.0002	7.214e-05	0	0	0	0	0	0	5.88e-05	0.0005	0.0008	0.02	0.49613	D	0.052	0.48594	T	0.976	0.58310	D	0.413	0.44885	B	.	.	.	.	1	0.81001	D	2.6	0.76081	M	-1.55	0.81727	D	-3.18	0.64478	D	0.214	0.23884	0.226	0.86351	D	0.527	0.82389	D	9	0.20238861	0.36356	T	0.542491	0.95746	D	0.368	0.68757	0.241	0.17371	0.923764619193	0.92299	0.7803055092978858	0.77981	0.0908038822712	0.10252	0.722545921803	0.70418	T	0.312667	0.68447	T	-0.200845	0.20683	T	-0.21012	0.53685	T	0.354292511940002	0.27186	T	0.510949	0.16331	T	0.1432441	0.32931	0.13762194	0.32889	0.1432441	0.32930	0.13762194	0.32888	-10.071	0.74336	D	.	.	0.084	0.13080	B	.;.	.;.	2.422489	0.31153	18.65	0.99455657970916811	0.65530	0.98343	0.81823	D	AEFBI	0.794206	0.72198	D	0.151439741899181	0.48880	3.094881	0.020162557905164	0.40651	2.429554	0.999999999883043	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.9	3.9	0.44240	6.304000	0.72770	5.630000	0.49113	-0.721000	0.03806	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.0:0.0:1.0:0.0	16.256	0.82341	557	0.71576	.;.	.	.	.	.	.	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	0.001520	0.005155	0.001366	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1867.33	35	chr14	104175351	.	G	A	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1140;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.165;SOR=1.038	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1881,0,1900	18	0	1	0
chr14	104713279	104713279	C	T	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon19:c.C2848T:p.R950W,INF2:NM_022489:exon19:c.C2848T:p.R950W	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	1	1518	3	0	0	3	0.000987167	.	.	.	337264	Inborn_genetic_diseases|Kidney_disorder|Charcot-Marie-Tooth_disease_dominant_intermediate_E|Focal_segmental_glomerulosclerosis_5|INF2-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0643626756614	0.0004	0.000399361	0.0010	0	0	0	0	0.0011	0	0.0014	0.0002458	38	154602	rs199873407	0.0007	0.0007	0.0006	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	3.164e-05	5.593e-05	3.971e-05	0	0.0048	0.0008	0.0006	0.0004	0.0011	0.0009	0.0009	0.0008	0.0011	0.0009	0.0008	0.0008	0.0008	0.0007	0.0001	0	0.0001	0	0	0.0062	0	0.0009	0.0009	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.915	0.65091	D	0.000585	0.43095	D	0.191878	0.573135	0.32311	D	1.7	0.43825	L	0.86	0.46777	T	-5.5	0.85844	D	0.192	0.22357	-0.9387	0.42822	T	0.130	0.43989	T	10	0.010538548	0.00234	T	0.064363	0.69254	D	0.128	0.35103	.	.	0.117191471859	0.11215	0.47287378877210656	0.47206	0.256219294154	0.28199	0.295075565577	0.09668	T	0.461264	0.79810	T	-0.460334	0.00979	T	-0.484455	0.23974	T	0.0847293412727623	0.10581	T	0.967703	0.89999	D	0.2634477	0.49409	0.28190306	0.54174	0.29047418	0.52036	0.26196796	0.51982	-11.009	0.79707	D	0.2466291479823254	0.33400	0.12	0.28116	B	.;.;.	.;.;.	3.047175	0.40872	21.3	0.99775713785700382	0.86346	0.46207	0.27709	N	AEFDBI	0.356105	0.44760	N	-0.00993049444828992	0.41406	2.475995	-0.0897886915173207	0.35810	2.076313	0.999883149685934	0.44867	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.6	2.53	0.29594	0.977000	0.29072	1.085000	0.23927	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.3991:0.4857:0.0:0.1151	5.092	0.14046	957	0.09725	.;Formin, FH2 domain;Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001055	0.005435	0.000000	0.000000	0.000000	0.000000	0.003165	0.000000	0.02632	841.33	34	chr14	104713279	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=690;ExcessHet=0;FS=7.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.49;SOR=1.656	GT:AD:DP:GQ:PL	0/1:29,33:62:99:855,0,737	18	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,25:75:99:.:.:824,0,1689:.	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,25:53:99:.:.:1034,164,1445:.	11	0	8	0
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,16:62:99:0|1:20534635_TCC_*:516,0,1825:20534635	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,16:62:99:0|1:20534635_TCC_*:516,0,1825:20534635	4	0	15	0
chr15	20535454	20535454	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G980A:p.R327K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00302846871296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195996035	0.0003	0.0006	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0	0.0002	0.0009	0	0.0002	0.0005	0.0005	0.0003	0.0001	0.0004	0.0006	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0.0037	6.973e-05	0.0015	0	0.0002	0	0.0007	0.0005	0	.	.	.	0.768	0.04507	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	-0.9625	0.38704	T	0.007	0.02558	T	7	0.034657508	0.01682	T	0.003028	0.06517	T	.	.	.	.	0.0297737177859	0.01360	0.0047850213449657075	0.00450	.	.	0.602614462376	0.53273	T	0.00297	0.02370	T	-0.37928	0.03149	T	-0.782586	0.02376	T	0.136043397733862	0.15929	T	0.192181	0.02062	T	0.093621135	0.21994	0.14057471	0.33504	0.093621135	0.21994	0.14057471	0.33503	-6.106	0.47158	T	.	.	0.111	0.21578	B	.	.	-0.594876	0.01586	0.106	0.37947601878945797	0.02531	0.00010	0.00151	N	AEFI	0.013996	0.00206	N	-1.72392761636933	0.00760	0.03283494	-1.83088962435268	0.00665	0.02959322	6.62524692863637E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.844000	0.01772	-5.946000	0.01544	-3.196000	0.00111	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	65	chr15	20535454	.	C	T	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=983;ExcessHet=0;FS=1.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.92;MQRankSum=-1.023;QD=1.28;ReadPosRankSum=1.52;SOR=1.099	GT:AD:DP:GQ:PL	0/1:51,8:59:89:89,0,1305	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	0/1:185,36:221:99:487,0,5173	0	13	3	3
chr15	22608280	22608280	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon16:c.A1420G:p.K474E	.	181	1314	25	2	0	29	0.0109146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.000518772353122	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201889124	0.0064	0.0066	0.0055	0.0072	0.0317	0.0062	0.0062	0.0307	0.0303	0.0153	0.0059	0.0146	0.0011	0.0005	0.0110	0.0042	0.0084	0.0317	0.0085	0.0095	0.0083	0.0087	0.0383	0.0081	0.0080	0.0337	0.0319	0.0150	0	0.0050	0.0189	0.0016	0.0006	0.0174	0.0048	0.0085	0.0383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2923.79	41	chr15	22608280	.	T	C	2923.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.96;DP=878;ExcessHet=0.3672;FS=1.06;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=30.58;MQRankSum=-0.098;QD=13.35;ReadPosRankSum=-0.591;SOR=0.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,30:77:99:.:.:642,0,1207:.	16	0	3	0
chr15	22611105	22611105	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C1103T:p.A368V	.	440	1080	1	1	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00089846461035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269751259	4.303e-06	7.525e-06	4.256e-06	4.351e-06	3.163e-05	1.55e-06	1.02e-06	1.35e-06	9.8e-07	3.163e-05	0	0	0	0	0	4.593e-06	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	606.33	46	chr15	22611105	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=903;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=0.635;QD=13.18;ReadPosRankSum=0.924;SOR=0.473	GT:AD:DP:GQ:PL	0/1:22,24:46:99:620,0,543	18	0	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,29:105:99:.:.:952,0,2924:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,29:105:99:.:.:952,0,2924:.	12	0	7	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	1/0:0,94:179:99:.:.:6604,2860,3345:.	0	0	19	0
chr15	28387622	28387622	G	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G694A:p.D232N,GOLGA8G:NM_001368080:exon14:c.G682A:p.D228N,GOLGA8G:NM_001350919:exon15:c.G1336A:p.D446N,GOLGA8F:NM_001350920:exon15:c.G1300A:p.D434N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00145506652939	.	.	3.132e-05	0	0	0	0	0	0	0.0003	.	.	.	rs772661040	5.131e-06	6.566e-06	5.466e-06	4.834e-06	5.578e-05	1.2e-06	8.1e-07	1.902e-05	1.077e-05	0	0	0	0	0	0	0	0	5.578e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.28958	T	0.99	0.63424	D	0.827	0.59428	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.110694885	0.20700	T	0.001455	0.02189	T	.	.	.	.	0.110392049598	0.10638	0.16042624436375658	0.15963	1.66514184945	0.89766	.	.	.	0.018441	0.14866	T	-0.466229	0.00898	T	-0.713173	0.05133	T	.	.	.	0.684232	0.29780	T	0.14547484	0.33345	0.13871856	0.33119	0.14547484	0.33345	0.13871856	0.33119	-5.952	0.45876	T	.	.	0.152	0.34094	B	.;.	.;.	1.748897	0.22250	15.54	0.9943436558955433	0.64423	0.18180	0.20153	N	AEFI	0.099358	0.20002	N	.	.	.	.	.	.	4.41246437135869E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	0.628	0.16854	1.608000	0.36458	2.555000	0.33284	0.167000	0.17740	0.850000	0.30445	0.129000	0.22981	0.111000	0.18785	1.0E-4:0.0:0.9999:0.0	7.078	0.24392	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	.	.	.	.	.	.	.	.	0.05263	321.81	73	chr15	28387622	.	G	A	321.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=0.9998;MLEAC=2;MLEAF=0.053;MQ=32.33;QD=24.75;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,13:13:39:349,39,0	18	1	0	0
chr15	32798936	32798936	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon15:c.G3329A:p.R1110Q,FMN1:NM_001277313:exon19:c.G3998A:p.R1333Q	.	418	1101	2	1	0	4	0.00181324	.	.	.	2230602	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00361462568437	8.3e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs374934202	0.0001	0.0001	9.669e-05	0.0001	0.0003	9.743e-05	9.221e-05	0.0001	0.0001	2.99e-05	0.0002	0	0	1.873e-05	0.0003	0.0001	0.0001	1.163e-05	0.0001	0.0001	0.0002	6.737e-05	0.0002	7.587e-05	6.29e-05	0.0002	0.0001	0	0	6.553e-05	0	0	0	0	0.0002	0	0	0.52	0.18308	T	0.213	0.31326	T	0.1	0.25713	B	0.004	0.10090	B	0.076259	0.21174	N	0.550760	.	.	.	0.08	0.08321	N	2.28	0.17271	T	0.17	0.05125	N	0.104	0.15609	-1.0659	0.10339	T	0.031	0.13242	T	9	0.048465967	0.04302	T	0.003615	0.08278	T	0.038	0.09825	.	.	0.26547132957	0.26150	0.09074224856700681	0.09007	0.0235483060594	0.02391	0.521874725819	0.41890	T	0.03772	0.24578	T	-0.530889	0.00379	T	-0.704169	0.05601	T	0.0438501879615307	0.04393	T	.	.	.	0.050081808	0.08992	0.08240382	0.18804	0.050081808	0.08991	0.08240382	0.18803	-1.102	0.01348	T	.	.	0.070	0.04002	B	.;.;.;.	.;.;.;.	2.507369	0.32374	19.02	0.95530252334106969	0.27163	0.30263	0.24037	N	AEFBCI	0.139780	0.26148	N	-0.58577652984035	0.19375	1.013578	-0.458445868299225	0.23309	1.270489	0.98061730595948	0.30157	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.86	3.99	0.45527	0.354000	0.19885	0.267000	0.16613	-0.202000	0.08738	0.052000	0.21487	0.002000	0.18203	0.993000	0.69303	0.0:0.7928:0.0:0.2072	10.457	0.43745	964	0.07719	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	0.017241	0.003049	0.000000	0.02632	824.33	41	chr15	32798936	.	C	T	824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=728;ExcessHet=0;FS=4.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-1.831;SOR=1.157	GT:AD:DP:GQ:PL	0/1:51,37:88:99:838,0,1225	18	0	1	0
chr15	34252364	34252364	C	T	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon8:c.G1094A:p.R365H,SLC12A6:NM_005135:exon9:c.G986A:p.R329H,SLC12A6:NM_133647:exon9:c.G1139A:p.R380H,SLC12A6:NM_001042494:exon10:c.G962A:p.R321H,SLC12A6:NM_001042495:exon10:c.G962A:p.R321H,SLC12A6:NM_001042496:exon10:c.G1112A:p.R371H,SLC12A6:NM_001365088:exon10:c.G1139A:p.R380H	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	688397	not_provided|SLC12A6-related_disorder|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy	MedGen:C3661900|.|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.533	0.0474024242174	.	0.000399361	2.476e-05	0	0	0.0002	0	0	0.0011	0	5.82e-05	9	154602	rs375887656	3.363e-05	4.105e-05	3.553e-05	3.171e-05	0.0024	2.574e-05	2.319e-05	0.0015	0.0012	0	0	0	0.0003	0	0.0024	6.32e-06	0.0003	0	0.0002	0.0002	0.0003	2.709e-05	0.0013	0.0001	8.774e-05	0.0008	0.0007	0	0	0.0013	0	0.0006	0	0	0	0	0.0002	0.165	0.25154	T	0.124	0.36901	T	0.653	0.47514	P	0.147	0.45295	B	0.000841	0.41440	D	0.148153	1	0.81001	D	1.985	0.53793	M	-0.39	0.69158	T	-4.28	0.79998	D	0.713	0.72299	-0.4589	0.70104	T	0.333	0.70059	T	10	0.45761052	0.59087	T	0.047402	0.62906	D	0.533	0.80367	0.797	0.91729	0.650071068344	0.64716	0.9147079550556401	0.91445	1.11383339439	0.78121	0.739474654198	0.72895	T	0.715148	0.91905	D	0.0375478	0.56723	T	0.125026	0.78566	D	0.462193578481674	0.31245	T	0.990788	0.97468	D	0.1921401	0.40870	0.15295672	0.35963	0.1921401	0.40870	0.15295672	0.35963	-8.286	0.63264	D	.	.	0.647	0.70791	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.633285	0.73682	26.0	0.99916187366304976	0.98449	0.99797	0.99532	D	AEFDBI	0.919566	0.89027	D	0.547327777432752	0.69918	5.426014	0.621697969729135	0.76517	6.50588	0.999999999999979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.905000	0.86479	7.684000	0.65448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.428	0.90560	818	0.41518	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.003788	0.02632	616.33	35	chr15	34252364	.	C	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.587;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.04;SOR=0.796	GT:AD:DP:GQ:PL	0/1:47,27:74:99:630,0,1177	18	0	1	0
chr15	40573915	40573915	G	A	exonic	RPUSD2	.	nonsynonymous SNV	RPUSD2:NM_001286407:exon3:c.G1109A:p.C370Y,RPUSD2:NM_152260:exon3:c.G1292A:p.C431Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00267131442553	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs767620389	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0001	4.96e-06	3.82e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	6.568e-06	1.312e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.559	0.13925	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000103	0.50451	N	0.212802	0.995452	0.42699	D	1.46	0.36832	L	1.53	0.30401	T	-1.13	0.29114	N	0.105	0.24634	-1.0696	0.09501	T	0.041	0.17488	T	10	0.09112328	0.15936	T	0.002671	0.05463	T	0.050	0.13987	0.288	0.24761	0.514923749907	0.51134	0.4467920003399793	0.44597	0.394144287444	0.40573	0.458512097597	0.33106	T	0.027051	0.19894	T	-0.396443	0.02443	T	-0.570571	0.15397	T	0.0445491373538971	0.04520	T	0.49985	0.15613	T	0.029247416	0.02388	0.07567863	0.16684	0.029247416	0.02388	0.07567863	0.16684	-5.024	0.37099	T	.	.	0.097	0.23848	B	.;.	.;.	2.297208	0.29387	18.11	0.71623185596569183	0.09692	0.88970	0.49163	D	AEFGBI	0.251769	0.37158	N	-0.305900207098284	0.28924	1.599466	-0.129436702887851	0.34210	1.965244	0.999983007246186	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	3.37	0.37692	0.808000	0.26813	4.094000	0.41823	-0.103000	0.15852	0.962000	0.33725	1.000000	0.68203	0.990000	0.65344	0.0879:0.2755:0.4957:0.1409	3.954	0.08879	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1901.33	35	chr15	40573915	.	G	A	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=767;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-2.185;SOR=0.842	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1915,0,1527	18	0	1	0
chr15	41873964	41873964	G	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon25:c.C4771A:p.H1591N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.066334558352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.0	0.92824	D	0.997	0.70673	D	0.932	0.66722	D	0.000190	0.48115	D	0.141462	0.990776	0.24126	N	2.455	0.71248	M	1.25	0.36512	T	-6.55	0.91827	D	0.43	0.46928	-0.8376	0.52806	T	0.201	0.55766	T	10	0.5049839	0.61765	D	0.066335	0.69844	D	0.203	0.48915	0.476	0.55342	0.746532560806	0.74424	0.12150700120769219	0.12077	.	.	0.465372413397	0.34047	T	0.121654	0.44477	T	-0.0898488	0.38101	T	-0.366838	0.37258	T	0.984646141529083	0.75885	D	0.521748	0.17009	T	0.5369717	0.69226	0.50837743	0.71588	0.5369717	0.69227	0.50837743	0.71588	-5.822	0.44766	T	.	.	0.266	0.50044	B	.	.	3.571404	0.50303	22.9	0.98837527195263153	0.47068	0.95261	0.64038	D	AEFDBI	0.528520	0.55001	D	0.537563247283301	0.69327	5.341352	0.467702696040526	0.65862	4.877632	0.857230106824023	0.25157	0.562547	0.31514	0	0.610034	0.51514	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.26	4.34	0.51267	3.795000	0.55203	6.840000	0.56713	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0791:0.0:0.9209:0.0	13.171	0.59021	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	948.33	38	chr15	41873964	.	G	T	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=717;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.64;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,40:73:99:962,0,801	18	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/1:112,39:151:99:102,0,1840	14	0	5	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	0/1:37,52:89:99:1308,0,840	15	0	4	0
chr15	47767082	47767082	G	A	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon17:c.G1754A:p.G585D,SEMA6D:NM_001358352:exon17:c.G1793A:p.G598D,SEMA6D:NM_153617:exon17:c.G1754A:p.G585D,SEMA6D:NM_153618:exon17:c.G1754A:p.G585D	.	502	1019	1	0	0	1	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.00346120353822	.	.	0.0001	0	8.715e-05	0	0	1.516e-05	0	0.0007	9.06e-05	14	154602	rs777380933	5.44e-05	7.525e-05	3.231e-05	7.677e-05	0.0008	4.418e-05	4.082e-05	0.0006	0.0006	0	7.546e-05	3.983e-05	0	0	0.0007	2.759e-06	5.142e-05	0.0008	0.0001	0.0001	3.86e-05	0.0002	0.0010	9.165e-05	7.718e-05	0.0007	0.0005	0	0	0.0010	0	0	0	0	0	0	0.0010	0.266	0.16251	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.04355	B	0.184281	0.17019	N	0.592735	0.899924	0.81001	D	-0.205	0.04094	N	2.37	0.42502	T	-0.19	0.09965	N	0.197	0.30461	-1.0749	0.08369	T	0.046	0.19559	T	10	0.03706819	0.02040	T	0.003461	0.07817	T	0.272	0.58758	0.342	0.33464	0.123314135267	0.11883	0.47947376360416394	0.47867	0.100991544238	0.11413	0.667215228081	0.62441	T	0.030621	0.21663	T	-0.396207	0.02452	T	-0.421162	0.30942	T	0.0209993691984978	0.00801	T	0.751925	0.37414	T	0.043273788	0.06715	0.06494585	0.13092	0.043273788	0.06715	0.06494585	0.13091	-3.381	0.14802	T	.	.	0.075	0.09239	B	.;.;.	.;.;.	2.148681	0.27367	17.44	0.67612487860482251	0.08407	0.81579	0.40954	D	AEFBI	0.492132	0.52890	N	-0.422424939199841	0.24685	1.334635	-0.176642071228261	0.32398	1.842781	0.999696348168143	0.41870	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.36	4.46	0.53567	5.672000	0.67774	8.707000	0.78125	-0.688000	0.04154	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2974:0.0:0.7026:0.0	6.170	0.19625	752	0.51611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.007576	0.02632	724.33	36	chr15	47767082	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=691;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.058;SOR=1.214	GT:AD:DP:GQ:PL	0/1:30,31:61:99:738,0,742	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:104,47:160:77:77,0,2243	3	0	13	3
chr15	51480993	51480993	A	G	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.T4094C:p.I1365T,DMXL2:NM_001174117:exon22:c.T4205C:p.I1402T,DMXL2:NM_001378464:exon23:c.T5873C:p.I1958T,DMXL2:NM_001174116:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378457:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378458:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378459:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378461:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378462:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378463:exon24:c.T6113C:p.I2038T,DMXL2:NM_015263:exon24:c.T6113C:p.I2038T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.152953154901	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs750465445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.005	0.72224	D	0.994	0.66517	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.07	0.76948	T	-3.27	0.65512	D	0.958	0.96758	0.405	0.89164	D	0.640	0.87411	D	10	0.85341114	0.84528	D	0.152953	0.83429	D	0.859	0.95691	0.622	0.75690	0.738862854502	0.73652	0.6173043293681109	0.61662	0.890232222495	0.70197	0.796208500862	0.81386	T	0.315819	0.68740	T	0.393881	0.89558	D	0.328006	0.89427	D	0.981635570526123	0.74024	D	0.953005	0.82069	D	0.5350409	0.69117	0.5474158	0.73836	0.5350409	0.69118	0.5474158	0.73837	-8.133	0.62627	D	.	.	0.961	0.88221	P	.;.;.	.;.;.	4.260281	0.64735	24.7	0.99867487468582006	0.94547	0.98496	0.83394	D	AEFBI	0.738536	0.68338	D	0.790440142831218	0.85501	8.595611	0.767701467913114	0.87473	9.234201	0.999998154380072	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	7.147000	0.76970	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.870	0.78889	508	0.75398	.;.;.	.	.	.	.	.	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	108.33	40	chr15	51480993	.	A	G	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.275;DP=1059;ExcessHet=0;FS=123.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.82;SOR=7.053	GT:AD:DP:GQ:PL	0/1:140,33:173:99:122,0,3449	18	0	1	0
chr15	52610294	52610294	A	G	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001286495:exon5:c.T641C:p.V214A,FAM214A:NM_001385020:exon5:c.T641C:p.V214A,FAM214A:NM_001385022:exon5:c.T356C:p.V119A,FAM214A:NM_001385023:exon5:c.T356C:p.V119A,FAM214A:NM_001385013:exon6:c.T620C:p.V207A,FAM214A:NM_001385015:exon6:c.T620C:p.V207A,FAM214A:NM_001385016:exon6:c.T620C:p.V207A,FAM214A:NM_001385017:exon6:c.T620C:p.V207A,FAM214A:NM_001385018:exon6:c.T620C:p.V207A,FAM214A:NM_001385019:exon6:c.T641C:p.V214A,FAM214A:NM_001385021:exon6:c.T620C:p.V207A,FAM214A:NM_019600:exon6:c.T620C:p.V207A,FAM214A:NM_001385014:exon7:c.T620C:p.V207A	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0304040055236	0.0049	0.00199681	0.0042	0.0012	0.0019	0	0.0011	0.0069	0.0022	0.0004	0.0044178	683	154602	rs61731677	0.0062	0.0062	0.0064	0.0060	0.0076	0.0061	0.0061	0.0074	0.0074	0.0011	0.0027	0.0021	0	0.0015	0.0050	0.0076	0.0056	0.0003	0.0042	0.0042	0.0044	0.0040	0.0073	0.0039	0.0038	0.0068	0.0066	0.0016	0	0.0029	0.0014	0	0.0012	0	0.0073	0.0047	0	0.007	0.63226	D	0.0	0.92824	D	0.962	0.55554	D	0.318	0.41660	B	0.000000	0.84330	D	0.000000	0.99992	0.51308	D	2.6	0.76081	M	1.37	0.35219	T	-1.77	0.41809	N	0.554	0.57946	-0.9011	0.47878	T	0.124	0.42862	T	10	0.0083037615	0.00188	T	0.030404	0.52725	D	0.155	0.40530	.	.	0.0675242888579	0.06100	0.46956721191608713	0.46875	0.241580751267	0.26684	0.628292322159	0.56903	T	0.01846	0.14879	T	-0.231885	0.16399	T	-0.100736	0.63342	T	0.0392778126784666	0.03561	T	0.908809	0.67676	D	0.24847426	0.47834	0.2644705	0.52267	0.24847426	0.47834	0.2644705	0.52266	-5.292	0.39864	T	.	.	0.322	0.61419	B	.;.;.;.	.;.;.;.	3.676691	0.52308	23.2	0.99850658565600003	0.93013	0.98813	0.87189	D	AEFDBI	0.858450	0.77597	D	0.615419262288526	0.74150	6.083931	0.631668773631508	0.77253	6.643647	0.999999707315184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	8.639000	0.90787	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.351	0.74102	333	0.86326	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.015152	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1998.33	44	chr15	52610294	.	A	G	1998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=889;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.69;SOR=0.914	GT:AD:DP:GQ:PL	0/1:77,71:148:99:2012,0,1995	18	0	1	0
chr15	58854499	58854499	A	C	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon9:c.A1755C:p.Q585H,MINDY2:NM_001040453:exon9:c.A1752C:p.Q584H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00357555662481	.	0.000199681	0.0004	0	0.0003	0	0	0	0	0.0025	0.0002911	45	154602	rs544050775	0.0002	0.0002	8.306e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0.0001	0	0	0	0.0003	8.994e-07	0.0002	0.0025	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.038	0.45756	D	0.075	0.42794	T	0.681	0.44460	P	0.34	0.48916	B	0.120000	0.19053	N	0.513245	0.987849	0.24474	N	.	.	.	0.77	0.49642	T	-1.3	0.32590	N	0.176	0.18920	-0.9652	0.38171	T	0.123	0.42547	T	10	0.015164822	0.00318	T	0.003576	0.08154	T	0.048	0.13305	0.163	0.06730	0.639199560535	0.63622	0.18327613625975894	0.18246	0.425055007789	0.42922	0.498948991299	0.38681	T	0.033707	0.23026	T	-0.465726	0.00905	T	-0.446997	0.28028	T	0.102286406077583	0.12607	T	0.686431	0.29515	T	0.05587999	0.10919	0.06550123	0.13284	0.05587999	0.10918	0.06550123	0.13283	-5.558	0.42407	T	.	.	0.147	0.32517	B	.;.	.;.	2.696198	0.35208	19.84	0.99204287633522492	0.55381	0.97961	0.78453	D	AEFDBIJ	0.395032	0.47205	N	0.285556493568999	0.55416	3.705662	0.39983297243605	0.61554	4.357191	0.85977019622505	0.25203	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	2.434000	0.44460	4.099000	0.41853	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.9255:0.0:0.0745:0.0	10.011	0.41158	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1077.83	42	chr15	58854499	.	A	C	1077.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=689;ExcessHet=0.119;FS=3.592;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.572;SOR=0.644	GT:AD:DP:GQ:PL	0/1:21,27:48:99:613,0,674	17	0	2	0
chr15	62013112	62013112	C	T	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon9:c.G623A:p.R208Q,VPS13C:NM_018080:exon9:c.G623A:p.R208Q,VPS13C:NM_001018088:exon11:c.G752A:p.R251Q,VPS13C:NM_020821:exon11:c.G752A:p.R251Q	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0217590600991	.	.	1.674e-05	9.831e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs770962714	8.258e-06	8.209e-06	1.095e-05	5.534e-06	0.0002	4.4e-06	3.48e-06	4.11e-05	2.392e-05	0.0001	0	0	5.092e-05	0	0.0002	4.513e-06	0	0	1.977e-05	1.971e-05	1.288e-05	2.7e-05	6.574e-05	5.26e-06	2.46e-06	8.02e-06	3e-06	4.837e-05	0	6.574e-05	0	0	0	0	0	0	0	0.048	0.40832	D	.	.	.	0.081	0.30795	B	0.018	0.30390	B	0.074676	0.21270	N	0.467855	1	0.08975	N	1.715	0.44382	L	0.96	0.43279	T	-1.75	0.41428	N	0.281	0.33250	-1.0143	0.25561	T	0.102	0.37718	T	10	0.12729573	0.24206	T	0.021759	0.44572	T	0.067	0.19503	0.45	0.51121	0.29527378943	0.29149	0.4598493784842955	0.45902	0.0405451585251	0.04348	0.228607952595	0.01867	T	0.034855	0.23489	T	-0.305378	0.08162	T	-0.439762	0.28834	T	0.145331084728241	0.16726	T	0.910609	0.68297	D	0.055219382	0.10703	0.080821365	0.18316	0.055219382	0.10703	0.080821365	0.18315	-4.548	0.31512	T	0.6256520437436853	0.69448	0.072	0.04396	B	.;.;.;.;.;.	.;.;.;.;.;.	1.824507	0.23182	15.92	0.99603262196242592	0.74338	0.60814	0.31304	D	AEFBI	0.080623	0.16304	N	-0.626078955093538	0.18163	0.9408202	-0.616610746502964	0.19067	1.021357	0.930886463550041	0.27025	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.83	2.29	0.27658	1.999000	0.40425	1.343000	0.25751	-0.864000	0.02607	0.906000	0.31575	0.789000	0.26847	0.303000	0.24570	0.0:0.7738:0.0:0.2262	10.380	0.43287	881	0.29269	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.;Vacuolar protein sorting-associated protein 13, second 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	558.33	33	chr15	62013112	.	C	T	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=659;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.435;SOR=0.584	GT:AD:DP:GQ:PL	0/1:16,22:38:99:572,0,319	18	0	1	0
chr15	64922011	64922011	G	C	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon4:c.G358C:p.E120Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0095	0.00938498	0.0024	0.0264	0.0015	0	0	6.088e-05	0.0011	0	0.0022833	353	154602	rs76626463	0.0007	0.0007	0.0008	0.0005	0.0233	0.0006	0.0006	0.0219	0.0214	0.0233	0.0013	0	0	0	0.0010	4.856e-05	0.0014	2.319e-05	0.0072	0.0073	0.0075	0.0069	0.0252	0.0069	0.0068	0.0239	0.0234	0.0252	0	0.0027	0	0	0	0	0.0002	0.0024	0	0.375	0.26085	T	0.457	0.32355	T	0.199	0.29618	B	0.158	0.34617	B	0.086684	0.20573	N	0.371143	1	0.23598	N	-0.69	0.01958	N	-0.07	0.63738	T	-0.4	0.29525	N	0.378	0.45331	-1.0220	0.23063	T	0.014	0.05561	T	10	0.003613919	0.00066	T	.	.	.	0.059	0.16972	.	.	0.243972157842	0.24002	0.2300183873606361	0.22916	.	.	0.364233136177	0.20000	T	0.004667	0.04082	T	-0.540169	0.00334	T	-0.529095	0.19376	T	0.0410108016596407	0.03874	T	0.764224	0.49290	T	0.061132155	0.12624	0.06735987	0.13923	0.061132155	0.12624	0.06735987	0.13923	-4.255	0.27541	T	.	.	0.090	0.30476	B	.;.;.;.;.	.;.;.;.;.	2.220757	0.28343	17.76	0.90155450646136082	0.19433	0.81266	0.40706	D	AEFDGBI	0.515961	0.54270	D	-0.434528200246777	0.24268	1.30913	-0.322977769537167	0.27358	1.517504	0.348686480139913	0.19660	0.516011	0.20929	0	0.588066	0.40923	0	0.575513	0.27324	1	0.586402	0.36253	0	.	.	4.63	2.74	0.31352	3.092000	0.49904	3.999000	0.41057	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1828:0.0:0.8172:0.0	9.972	0.40932	225	0.91282	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	722.33	37	chr15	64922011	.	G	C	722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=700;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.572;SOR=0.993	GT:AD:DP:GQ:PL	0/1:29,29:58:99:736,0,712	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	0/1:29,15:44:79:79,0,638	9	0	10	0
chr15	78109325	78109325	G	A	exonic	CIB2	.	nonsynonymous SNV	CIB2:NM_001271889:exon2:c.C109T:p.L37F,CIB2:NM_001271888:exon3:c.C127T:p.L43F,CIB2:NM_001301224:exon3:c.C271T:p.L91F,CIB2:NM_006383:exon4:c.C256T:p.L86F	Deafness, autosomal recessive 48, Autosomal recessive;Usher syndrome, type IJ, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.1412425552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.66756	D	0.694	0.41705	P	0.452	0.46163	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	-0.68	0.72889	T	-3.01	0.66325	D	0.83	0.83781	-0.0483	0.81242	T	0.429	0.77173	T	10	0.7513665	0.75661	D	0.141243	0.82366	D	0.289	0.60808	0.556	0.67409	0.881854741291	0.88070	0.8364644075358075	0.83606	0.699032849931	0.61001	0.752524137497	0.74819	T	0.26382	0.63554	T	0.197693	0.73675	D	0.0461959	0.73332	D	0.978042701477953	0.72134	D	0.956104	0.89317	D	0.46703136	0.65107	0.3880454	0.63658	0.46703136	0.65108	0.3880454	0.63658	-11.059	0.79980	D	0.3091767019335109	0.40699	0.867	0.80711	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.926463	0.81178	27.5	0.9989295161173084	0.96666	0.98340	0.81793	D	AEFBI	0.928968	0.91399	D	0.646207685024101	0.76124	6.428856	0.651999930823936	0.78758	6.941516	0.999999999999311	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.63	4.63	0.57175	7.912000	0.86869	11.493000	0.92935	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:1.0:0.0	16.832	0.85813	791	0.46100	EF-hand domain;.;.;EF-hand domain;EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1516.33	41	chr15	78109325	.	G	A	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.706;DP=788;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.06;SOR=0.589	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1530,0,1105	18	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,0:9:64:.:.:706,0,632:.	13	0	6	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	0/1:70,0:70:86:.:.:194,0,2770:.	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	0/1:70,0:70:99:.:.:194,0,2770:.	9	0	10	0
chr15	84031415	84031415	C	G	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.C4737G:p.N1579K,ADAMTSL3:NM_207517:exon28:c.C4737G:p.N1579K	.	423	1057	40	2	0	44	0.0203892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0003	0.00359425	0.0025	9.619e-05	0.0005	0	0	0.0007	0.0088	0.0151	0.0022639	350	154602	rs148548737	0.0013	0.0013	0.0009	0.0018	0.0174	0.0013	0.0013	0.0167	0.0164	5.974e-05	0.0001	0.0023	2.519e-05	0	0.0139	0.0002	0.0017	0.0174	0.0008	0.0008	0.0006	0.0011	0.0180	0.0007	0.0007	0.0150	0.0138	4.811e-05	0	0.0002	0.0020	0	0	0.0068	0.0003	0.0014	0.0180	0.92	0.02309	T	0.926	0.02814	T	0.006	0.13644	B	0.004	0.11217	B	0.002575	0.00898	N	3.231580	1	0.08975	N	1.145	0.29067	L	0.11	0.61923	T	0.0	0.10136	N	0.075	0.04913	-0.9520	0.40625	T	0.101	0.37392	T	10	0.006237477	0.00141	T	.	.	.	0.102	0.29158	0.408	0.44230	0.531679877283	0.52817	0.10540083997250971	0.10470	0.142973379505	0.16129	0.271489948034	0.06336	T	0.002445	0.01836	T	-0.619652	0.00111	T	-0.649238	0.09007	T	0.00818391816680629	0.00098	T	0.657934	0.26722	T	0.04212725	0.06331	0.045202307	0.06031	0.04212725	0.06331	0.045202307	0.06031	-4.004	0.23864	T	.	.	0.102	0.22609	B	.;.	.;.	1.553032	0.19905	14.49	0.34166219941351694	0.02075	0.07927	0.13913	N	AEFDBI	0.119643	0.23342	N	-0.82455612829479	0.12684	0.6198627	-0.716785762217609	0.16542	0.875626	4.77055522160839E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	3.24	0.36257	0.090000	0.14865	0.409000	0.18089	0.599000	0.40250	0.047000	0.21291	0.042000	0.21616	0.964000	0.52637	0.1665:0.6579:0.0:0.1757	5.034	0.13763	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.011696	0.000000	0.008621	0.006098	0.018939	0.02632	879.33	33	chr15	84031415	.	C	G	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.24;SOR=0.71	GT:AD:DP:GQ:PL	0/1:51,35:86:99:893,0,1359	18	0	1	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|1:18,7:25:99:0|1:84240169_A_G:240,0,678:84240169	13	0	5	1
chr15	85579534	85579534	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C1466T:p.P489L,AKAP13:NM_007200:exon7:c.C1466T:p.P489L	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00852930938731	0.0007	0.00219649	0.0021	0.0004	0.0006	0	0.0002	0.0021	0.0011	0.0061	0.0019663	304	154602	rs114358244	0.0019	0.0019	0.0017	0.0021	0.0071	0.0018	0.0018	0.0066	0.0064	0.0002	0.0015	0.0039	0	0.0005	0.0036	0.0016	0.0021	0.0071	0.0013	0.0013	0.0012	0.0014	0.0048	0.0011	0.0011	0.0033	0.0028	0.0002	0	0.0027	0.0052	0	0.0004	0.0034	0.0014	0.0024	0.0048	0.002	0.78490	D	0.014	0.62352	D	0.001	0.07471	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	3.56	0.12988	T	-3.24	0.65171	D	0.104	0.09349	-0.9888	0.32903	T	0.021	0.08639	T	9	0.0036013722	0.00065	T	0.008529	0.22557	T	0.005	0.00259	.	.	0.128874641272	0.12493	0.16166209830959727	0.16087	0.044942485866	0.04864	0.231293022633	0.02065	T	0.087773	0.43873	T	-0.545818	0.00309	T	-0.553639	0.16978	T	0.0220768894469677	0.00917	T	0.689931	0.29934	T	0.054482948	0.10461	0.10563667	0.25399	0.054482948	0.10460	0.10563667	0.25398	-3.543	0.17039	T	.	.	0.101	0.17700	B	.;.;.	.;.;.	1.669191	0.21281	15.13	0.90857184410694947	0.20105	0.05606	0.11511	N	AEFDBHCIJ	0.037972	0.05303	N	-1.12408300479103	0.06217	0.2855947	-1.14588449478735	0.06842	0.330735	0.999943246497221	0.47345	0.730579	0.87903	0	0.724815	0.89359	0	0.616094	0.41390	0	0.648885	0.59868	0	.	.	5.67	-0.614	0.11009	-0.246000	0.08896	-0.005000	0.13145	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1422:0.4648:0.0:0.3931	4.547	0.11487	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.000000	0.02632	1685.33	87	chr15	85579534	.	C	T	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=1415;ExcessHet=0;FS=5.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=-2.212;SOR=0.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,46:91:99:0|1:85579534_C_T:1699,0,1681:85579534	18	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:82,17:99:65:65,0,1969	11	0	7	1
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,22:40:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1675,751,686:89776889	8	2	9	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|1:0,22:40:65:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:989,65,0:89776889	1	15	1	2
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	415.99	37	chr15	92630239	.	A	G	415.99	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.793;DP=1519;ExcessHet=0.7564;FS=157.988;InbreedingCoeff=-0.2064;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.776;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,14:96:65:0|1:92630239_A_G:65,0,2979:92630239	10	0	4	5
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,12:94:10:0|1:92630239_A_G:10,0,3019:92630239	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,12:93:13:0|1:92630239_A_G:13,0,2997:92630239	3	0	5	11
chr15	100569654	100569654	G	A	exonic	LINS1	.	nonsynonymous SNV	LINS1:NM_001040616:exon7:c.C1858T:p.P620S,LINS1:NM_001352508:exon7:c.C1705T:p.P569S,LINS1:NM_001352507:exon8:c.C1111T:p.P371S	Mental retardation, autosomal recessive 27, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0061639097495	.	.	3.301e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs765487446	3.422e-06	3.42e-06	4.085e-06	2.752e-06	0.0001	1e-06	7.3e-07	5.85e-05	3.759e-05	0.0001	0	0	0	0	0	0	0	0	5.914e-05	5.91e-05	5.139e-05	6.727e-05	0.0002	3.078e-05	2.21e-05	0.0001	8.454e-05	0.0002	0	0	0	0	0	0	0	0	0	0.803	0.03093	T	0.199	0.27679	T	0.017	0.17573	B	0.011	0.15521	B	0.278496	0.14990	N	0.644273	1	0.08975	N	0.75	0.19020	N	2.92	0.09915	T	-0.29	0.11728	N	0.051	0.02272	-0.9395	0.42695	T	0.016	0.06377	T	10	0.02889964	0.01019	T	0.006164	0.16141	T	0.025	0.05312	0.2	0.11384	0.144782658237	0.14088	0.20238606307414714	0.20155	0.0219314572043	0.02193	0.199948117137	0.00455	T	0.00208	0.01490	T	-0.536654	0.00351	T	-0.712451	0.05170	T	0.0171291882055936	0.00458	T	0.577942	0.20808	T	0.032759503	0.03363	0.05200701	0.08483	0.032759503	0.03362	0.05200701	0.08482	-2.077	0.03486	T	0.14886050737536932	0.17364	0.083	0.09143	B	.	.	0.071331	0.04796	1.407	0.1537621198883426	0.00374	0.16703	0.19510	N	AEFDBIJ	0.054051	0.09793	N	-1.00211236006811	0.08559	0.4018097	-0.964105289072934	0.10597	0.5347546	0.993537394418538	0.33253	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	3.32	0.37134	0.937000	0.28549	1.022000	0.23413	0.614000	0.49286	0.006000	0.17386	0.000000	0.08366	0.099000	0.18236	0.2603:0.0:0.7397:0.0	8.686	0.33400	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	.	.	.	.	.	.	.	.	0.02941	31.14	65	chr15	100569654	.	G	A	31.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.028;DP=1302;ExcessHet=0;FS=46.993;InbreedingCoeff=-0.0574;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.98;SOR=5.981	GT:AD:DP:GQ:PL	0/1:68,19:92:44:44,0,1363	16	0	1	2
chr15	101818248	101818248	G	A	exonic	OR4F15	.	nonsynonymous SNV	OR4F15:NM_001001674:exon1:c.G62A:p.R21Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	2814542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00118040570934	0.0038	0.00219649	0.0034	0.0011	0.0042	0	0	0.0049	0.0066	0.0011	0.0032988	510	154602	rs142759394	0.0040	0.0040	0.0039	0.0040	0.0299	0.0039	0.0039	0.0262	0.0248	0.0018	0.0037	0.0089	0	9.362e-05	0.0299	0.0043	0.0052	0.0016	0.0036	0.0036	0.0038	0.0033	0.0050	0.0033	0.0032	0.0046	0.0044	0.0009	0.0505	0.0038	0.0118	0.0002	0	0.0170	0.0050	0.0057	0.0012	0.138	0.25873	T	0.576	0.08624	T	0.0	0.02946	B	0.001	0.04355	B	0.005063	0.33125	N	0.142349	0.999846	0.20103	N	-0.02	0.05091	N	7.43	0.00400	T	0.12	0.05604	N	0.174	0.18649	-0.9777	0.35526	T	0.001	0.00188	T	9	0.004750639	0.00100	T	0.00118	0.01509	T	0.125	0.34456	.	.	0.312306559268	0.30836	0.03231988802055784	0.03179	0.0109991440386	0.01025	0.254744470119	0.04284	T	9.58E-4	0.00501	T	-0.663891	0.00060	T	-0.724075	0.04602	T	0.00514198221419872	0.00056	T	0.19598	0.02159	T	0.045161884	0.07345	0.053965233	0.09194	0.045161884	0.07345	0.053965233	0.09193	-4.165	0.26243	T	.	.	0.082	0.08560	B	.	.	2.526806	0.32665	19.11	0.96641249970911136	0.30553	0.10355	0.15885	N	AEFDI	0.090418	0.18322	N	-0.71013839095938	0.15736	0.7956623	-0.617059161293788	0.19054	1.020685	0.00128944191395503	0.08410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	4.36	0.51643	-0.476000	0.06671	1.109000	0.24140	-0.108000	0.15293	0.000000	0.06391	0.028000	0.21151	0.088000	0.17685	0.0:0.1664:0.6611:0.1725	8.698	0.33471	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	0	0	1	0	0.022659	0.000000	0.027174	0.064327	0.000000	0.017241	0.009146	0.007576	0.05263	4004.83	34	chr15	101818248	.	G	A	4004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=879;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.603;SOR=0.614	GT:AD:DP:GQ:PL	0/1:65,76:141:99:2009,0,1649	17	0	2	0
chr16	1366354	1366354	C	T	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001370526:exon6:c.G583A:p.G195R	.	403	1109	9	1	0	11	0.00493495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0357428	0.0211	0.0014	0.0024	0.1962	0.0174	0.0050	0.0216	0.0053	0.0132728	2052	154602	rs75956141	0.0076	0.0076	0.0076	0.0075	0.1656	0.0075	0.0074	0.1622	0.1608	0.0005	0.0015	0.0082	0.1656	0.0110	0.0016	0.0022	0.0128	0.0052	0.0088	0.0088	0.0080	0.0096	0.1566	0.0084	0.0082	0.1477	0.1441	0.0014	0	0.0020	0.0104	0.1566	0.0092	0	0.0036	0.0085	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004573	0.000000	0.001359	0.000000	0.000000	0.000000	0.015625	0.003817	0.02632	1260.33	33	chr16	1366354	.	C	T	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.408;SOR=0.642	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1274,0,954	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,34:38:37:.:.:1113,37,0:.	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,34:38:37:.:.:1113,37,0:.	9	5	3	2
chr16	5090111	5090111	A	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532G:p.F178V,EEF2KMT:NM_201598:exon5:c.T613G:p.F205V,EEF2KMT:NM_201400:exon6:c.T715G:p.F239V	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00715632656506	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	2.751e-06	0.0001	4.106e-06	1.382e-06	6e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6e-05	0	0	0	2.049e-05	0	0	1.663e-05	0	1.345e-05	0.0003	2.631e-05	0	0.0002	2.23e-06	8.4e-07	.	.	0	0	0	0	0.0002	9.461e-05	0	0	0	0	0.129	0.26852	T	0.539	0.13752	T	0.0	0.02946	B	0.002	0.06944	B	0.051195	0.23004	N	0.452369	0.777814	0.29366	N	.	.	.	2.33	0.16492	T	-1.93	0.46673	N	0.311	0.35727	-1.0147	0.25432	T	0.031	0.13418	T	10	0.10140133	0.18524	T	0.007156	0.18979	T	0.035	0.08770	0.464	0.53404	0.0297737177859	0.01360	0.4035785492782559	0.40273	0.0564535729519	0.06238	0.398763567209	0.24896	T	0.012655	0.11085	T	-0.222122	0.17705	T	-0.55684	0.16675	T	0.065480468112598	0.08002	T	0.763224	0.38939	T	0.18460293	0.39783	0.18031317	0.40822	0.18460293	0.39782	0.18031317	0.40821	-7.966	0.60838	D	.	.	0.263	0.49711	B	.;.;.	.;.;.	1.867389	0.23722	16.13	0.94251370723377326	0.24524	0.48749	0.28277	N	AEFBCI	0.110581	0.21924	N	-0.635506320671191	0.17885	0.9241441	-0.570366959260687	0.20267	1.091156	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	.	.	.	.	.	.	.	.	0.02632	237.54	35	chr16	5090111	.	A	C	237.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.45;DP=737;ExcessHet=0.3672;FS=5.191;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=56.51;MQRankSum=-6.824;QD=1.68;ReadPosRankSum=0.878;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,5:48:73:0|1:5090111_A_C:73,0,1780:5090111	18	0	1	0
chr16	5090113	5090113	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.C530T:p.A177V,EEF2KMT:NM_201598:exon5:c.C611T:p.A204V,EEF2KMT:NM_201400:exon6:c.C713T:p.A238V	.	488	1022	12	0	0	12	0.00583658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00952592763829	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158441470	3.437e-06	0.0002	4.104e-06	2.763e-06	.	1.01e-06	7.3e-07	.	.	0	0	0	0	8.141e-05	0	0	1.662e-05	0	1.317e-05	0.0003	2.576e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	9.429e-05	0	0	0	0	0.039	0.42487	D	0.123	0.35582	T	0.08	0.24665	B	0.071	0.28987	B	0.410115	0.13008	N	0.729754	0.835903	0.28697	N	.	.	.	3.26	0.06681	T	-2.28	0.52451	N	0.267	0.31027	-1.0721	0.08957	T	0.028	0.12014	T	10	0.10078591	0.18374	T	0.009526	0.24947	T	0.102	0.29158	.	.	0.0297737177859	0.01360	0.2668009168093736	0.26593	0.0615585677325	0.06861	0.366241514683	0.20291	T	0.018625	0.14980	T	-0.210329	0.19332	T	-0.5399	0.18306	T	0.136965993372595	0.16011	T	0.837416	0.50983	T	0.065766774	0.14088	0.10424658	0.25033	0.065766774	0.14087	0.10424658	0.25032	-3.878	0.23729	T	.	.	0.098	0.21277	B	.;.;.	.;.;.	2.223018	0.28372	17.77	0.99479406773288115	0.66795	0.21832	0.21539	N	AEFBCI	0.095176	0.19234	N	-0.310886337937531	0.28732	1.58733	-0.288417591132195	0.28478	1.588221	1.32033176130874E-4	0.05486	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	4.04	0.46262	0.354000	0.19885	2.901000	0.35450	0.674000	0.70861	0.011000	0.18532	1.000000	0.68203	0.837000	0.39485	0.0868:0.1531:0.6019:0.1582	4.291	0.10325	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	59.33	35	chr16	5090113	.	G	A	59.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.83;MQRankSum=-6.824;QD=1.24;ReadPosRankSum=-1.148;SOR=0.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,5:48:73:0|1:5090111_A_C:73,0,1780:5090111	18	0	1	0
chr16	5090233	5090233	C	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G410A:p.R137Q,EEF2KMT:NM_201598:exon5:c.G491A:p.R164Q,EEF2KMT:NM_201400:exon6:c.G593A:p.R198Q	.	489	1030	3	0	0	3	0.00145419	.	.	.	3441631	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00806526580657	.	0.000199681	0.0001	0	0.0003	0	0.0002	3.106e-05	0	0.0003	8.41e-05	13	154602	rs553273623	7.879e-05	7.867e-05	5.181e-05	0.0001	0.0010	6.677e-05	6.21e-05	0.0004	0.0003	0	0.0002	0	2.519e-05	3.746e-05	0.0010	3.868e-05	0.0002	0.0005	8.532e-05	8.53e-05	5.138e-05	0.0001	0.0010	4.952e-05	3.958e-05	0.0004	0.0003	2.404e-05	0	0.0002	0	0	9.407e-05	0.0034	2.94e-05	0	0.0010	0.137	0.25979	T	0.351	0.17425	T	0.101	0.29891	B	0.022	0.23121	B	0.022351	0.26651	N	0.366949	0.99965	0.20771	N	.	.	.	2.04	0.20808	T	-1.94	0.45042	N	0.287	0.32481	-1.0084	0.27416	T	0.027	0.11397	T	10	0.023400903	0.00611	T	0.008065	0.21368	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.40046146185645165	0.39961	0.0520686107132	0.05727	0.186669737101	0.00172	T	0.013374	0.11580	T	-0.245933	0.14600	T	-0.591042	0.13575	T	0.0213208869099617	0.00834	T	0.635836	0.27494	T	0.06346283	0.13366	0.07919012	0.17806	0.06346283	0.13366	0.07919012	0.17806	-4.7	0.33404	T	.	.	0.080	0.09385	B	.;.;.	.;.;.	0.141660	0.05356	1.838	0.9418453623438956	0.24407	0.10078	0.15682	N	AEFBCI	0.053673	0.09690	N	-1.19650016495535	0.05053	0.2294586	-1.2453336459435	0.05200	0.2472126	1.84907349868448E-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	-1.61	0.07951	-1.422000	0.02559	-2.095000	0.04221	-0.818000	0.02990	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.1131:0.5774:0.0:0.3096	6.523	0.21484	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	0.000572	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003906	0.02632	879.33	35	chr16	5090233	.	C	T	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=789;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=1.9;QD=14.18;ReadPosRankSum=-1.002;SOR=0.828	GT:AD:DP:GQ:PL	0/1:29,33:62:99:893,0,636	18	0	1	0
chr16	10744035	10744035	G	C	exonic	NUBP1	.	nonsynonymous SNV	NUBP1:NM_001278506:exon2:c.G94C:p.A32P,NUBP1:NM_001323594:exon2:c.G94C:p.A32P,NUBP1:NM_001323595:exon2:c.G94C:p.A32P,NUBP1:NM_001323596:exon2:c.G94C:p.A32P,NUBP1:NM_002484:exon2:c.G94C:p.A32P	.	.	.	.	.	.	.	.	.	.	.	3355801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.03654312449	.	.	9.139e-05	0	0	0	0	8.225e-05	0	0.0003	5.17e-05	8	154602	rs752879211	5.67e-05	5.678e-05	5.011e-05	6.337e-05	0.0002	4.649e-05	4.252e-05	0.0002	0.0001	0	0	0	0	0	0.0002	5.357e-05	3.397e-05	0.0002	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.048	0.72224	D	0.997	0.70673	D	0.951	0.73562	D	0.000027	0.55875	D	0.069155	1	0.81001	D	2.07	0.56829	M	0.85	0.47130	T	-4.42	0.77470	D	0.74	0.74007	-0.8501	0.51962	T	0.138	0.45583	T	10	0.4576661	0.59090	T	0.036543	0.57060	D	0.205	0.49236	0.33	0.31519	0.667366933581	0.66456	0.7760755845811015	0.77557	0.153963351702	0.17378	0.766426384449	0.76889	T	0.101985	0.51183	T	-0.1354	0.30627	T	-0.206567	0.54022	T	0.886719346046448	0.53715	D	0.960104	0.86839	D	0.886434	0.90204	0.890515	0.94303	0.886434	0.90205	0.890515	0.94303	-7.267	0.55960	T	.	.	0.647	0.82009	P	.;.;.	.;.;.	5.106484	0.85353	28.6	0.99734232135141776	0.82975	0.78920	0.39013	D	ALL	0.773217	0.70730	D	0.612087688417151	0.73938	6.048526	0.531159053276876	0.70097	5.455392	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.12	4.12	0.47504	5.011000	0.63768	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	15.302	0.73663	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	516.33	34	chr16	10744035	.	G	C	516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.876;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.428;SOR=0.524	GT:AD:DP:GQ:PL	0/1:21,21:42:99:530,0,604	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	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	0/1:96,78:191:99:530,0,1252	4	0	15	0
chr16	15596896	15596896	T	C	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon27:c.A5026G:p.I1676V,MARF1:NM_001184999:exon27:c.A5017G:p.I1673V,MARF1:NM_014647:exon27:c.A5026G:p.I1676V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0041752519708	0.0003	.	0.0003	0.0007	0	0	0	1.505e-05	0	0.0019	0.0002587	40	154602	rs200132242	0.0002	0.0002	8.863e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0.0002	6.759e-05	0	0	0	0	4.504e-06	0.0002	0.0023	0.0001	0.0001	0.0001	0.0001	0.0014	7.569e-05	6.275e-05	0.0007	0.0005	0.0002	0	6.533e-05	0	0	0	0	0	0	0.0014	0.818	0.03307	T	0.751	0.05184	T	.	.	.	.	.	.	0.576738	0.11183	N	0.809781	0.999999	0.08975	N	-0.205	0.04094	N	.	.	.	-0.02	0.07736	N	0.026	0.00527	-0.9783	0.35390	T	0.021	0.08870	T	9	0.0046242476	0.00096	T	0.004175	0.10026	T	0.032	0.07718	.	.	0.0675242888579	0.06100	0.09242847042393551	0.09174	0.415858212878	0.42230	0.243236243725	0.03089	T	0.010866	0.09766	T	-0.645454	0.00077	T	-0.705474	0.05532	T	0.00258499998072591	0.00027	T	0.613939	0.23413	T	0.014090814	0.00080	0.020113058	0.00119	0.014090814	0.00080	0.020113058	0.00119	-2.247	0.04275	T	.	.	0.055	0.00861	B	.;.;.;.	.;.;.;.	0.080786	0.04871	1.459	0.73968702239655226	0.10521	0.02125	0.06275	N	AEFGBI	0.022203	0.01081	N	-1.2083617233199	0.04877	0.2210597	-1.13118249086771	0.07110	0.3446573	0.997264112884212	0.35436	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	4.06	-0.365	0.11924	-0.037000	0.12116	0.443000	0.18445	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.851000	0.40252	0.0:0.3122:0.1865:0.5013	4.152	0.09711	669	0.61081	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	907.33	33	chr16	15596896	.	T	C	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=645;ExcessHet=0;FS=1.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.023;SOR=1.236	GT:AD:DP:GQ:PL	0/1:18,27:45:99:921,0,507	18	0	1	0
chr16	15715019	15715019	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon40:c.G5676C:p.E1892D,MYH11:NM_022844:exon40:c.G5676C:p.E1892D,MYH11:NM_001040113:exon41:c.G5697C:p.E1899D,MYH11:NM_001040114:exon41:c.G5697C:p.E1899D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	0	1497	25	0	0	25	0.00828089	.	.	.	142061	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_aneurysm,_familial_thoracic_4|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.562	.	0.0052	0.00339457	0.0051	0.0013	0.0079	0	0.0062	0.0065	0.0055	0.0025	0.0051681	799	154602	rs113964173	0.0057	0.0057	0.0057	0.0057	0.0163	0.0056	0.0055	0.0136	0.0126	0.0021	0.0069	0.0054	2.519e-05	0.0059	0.0163	0.0061	0.0068	0.0027	0.0050	0.0050	0.0051	0.0049	0.0079	0.0047	0.0046	0.0068	0.0063	0.0024	0.0011	0.0079	0.0061	0.0002	0.0061	0.0306	0.0061	0.0090	0.0017	0.002	0.72154	D	0.035	0.52389	D	0.884	0.48618	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.245	0.89746	M	-1.21	0.78645	T	-2.65	0.57110	D	0.656	0.67564	0.037	0.82994	D	0.494	0.80811	T	10	0.013423175	0.00285	T	.	.	.	0.562	0.82061	0.385	0.40460	0.836330520374	0.83477	0.3254021080093631	0.32453	0.679322545901	0.59932	0.713986098766	0.69171	T	0.700237	0.91362	D	-0.229723	0.16685	T	-0.0970664	0.63625	T	0.0381361471002338	0.03355	T	0.948505	0.80194	D	0.6787482	0.76902	0.6146772	0.77573	0.69713414	0.77901	0.551593	0.74072	-7.906	0.60428	D	.	.	0.372	0.62152	A	.;.;.;.	.;.;.;.	3.755913	0.53860	23.4	0.99839129645069391	0.91972	0.91549	0.53762	D	AEFDBCI	0.719763	0.67054	D	0.380813121273696	0.60382	4.226598	0.274670842489353	0.54065	3.572653	0.280145057627384	0.18980	0.700653	0.57754	0	0.572659	0.20510	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.76	1.09	0.19517	2.622000	0.46092	0.203000	0.15874	0.587000	0.30956	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.6481:0.0:0.3519	9.194	0.36379	308	0.87611	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.020202	0.017663	0.023392	0.000000	0.025862	0.000000	0.000000	0.02632	1394.33	35	chr16	15715019	.	C	G	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.712;SOR=0.692	GT:AD:DP:GQ:PL	0/1:83,60:143:99:1408,0,2095	18	0	1	0
chr16	15741657	15741657	T	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon22:c.A2665C:p.K889Q,MYH11:NM_022844:exon22:c.A2665C:p.K889Q,MYH11:NM_001040113:exon23:c.A2686C:p.K896Q,MYH11:NM_001040114:exon23:c.A2686C:p.K896Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	340756	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_4	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.587	0.318223942998	.	.	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002135	33	154602	rs762308378	0.0001	0.0001	7.897e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	0.0001	0.0023	4.596e-05	4.593e-05	2.57e-05	6.714e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.005	0.74150	D	0.937	0.52445	P	0.234	0.38393	B	0.000001	0.62929	D	0.054595	1	0.81001	D	3.11	0.87757	M	-0.95	0.75438	T	-3.26	0.65397	D	0.469	0.50508	0.398	0.89066	D	0.547	0.83360	D	10	0.0703738	0.10228	T	0.318224	0.91394	D	0.587	0.83471	0.362	0.36711	0.837114270717	0.83556	0.39162752227168746	0.39077	0.809008634224	0.66657	0.54133617878	0.44634	T	0.762572	0.93580	D	-0.281896	0.10467	T	-0.183559	0.56191	T	0.370356492551083	0.27811	T	0.933007	0.74900	D	0.73820144	0.80189	0.66981095	0.80629	0.70185286	0.78159	0.62288576	0.78027	-12.792	0.89047	D	.	.	0.407	0.62650	A	.;.;.;.	.;.;.;.	5.059114	0.84316	28.3	0.99486424360818182	0.67180	0.98785	0.86822	D	AEFDBI	0.800576	0.72652	D	0.60049223675225	0.73205	5.928438	0.558902833325888	0.72019	5.744303	0.999998461554044	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.95	4.95	0.64894	6.174000	0.71864	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.788	0.62608	343	0.85802	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1851.33	34	chr16	15741657	.	T	G	1851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.488;DP=733;ExcessHet=0;FS=3.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.497;SOR=0.381	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1865,0,1270	18	0	1	0
chr16	19456878	19456878	G	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon1:c.G172C:p.V58L	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0184716012957	0.0029	0.00139776	0.0033	0.0003	0.0007	0	0.0050	0.0050	0.0044	0.0007	0.0032535	503	154602	rs148716221	0.0042	0.0042	0.0042	0.0042	0.0054	0.0041	0.0041	0.0046	0.0045	0.0004	0.0013	0.0143	0	0.0036	0.0054	0.0047	0.0033	0.0008	0.0030	0.0030	0.0029	0.0031	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0039	0.0181	0	0.0026	0.0034	0.0039	0.0019	0.0025	0.6	0.05635	T	0.733	0.05109	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.19	0.04947	N	0.077	0.05162	-1.0230	0.22736	T	0.106	0.38587	T	9	0.00557822	0.00123	T	0.018472	0.40544	T	0.016	0.02506	.	.	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.630081	0.00095	T	-0.676616	0.07192	T	0.0013078764114417	0.00013	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-2.966	0.09819	T	.	.	0.087	0.10979	B	.	.	-0.101045	0.03634	0.722	0.85946810061934309	0.16214	0.01925	0.05876	N	AEFBI	0.058377	0.10948	N	-1.38344818759726	0.02793	0.1238391	-1.3631786860953	0.03653	0.170846	0.00586523105539814	0.11064	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.76	1.45	0.21708	-0.294000	0.08346	-0.031000	0.12795	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4362:0.5638	8.156	0.30332	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1767.33	33	chr16	19456878	.	G	C	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=768;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.8;SOR=0.565	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1781,0,1777	18	0	1	0
chr16	21402571	21402571	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	786	733	3	0	0	3	0.00204221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000999244055442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236449961	0.0010	0.0012	0.0011	0.0010	0.0026	0.0009	0.0008	0.0007	0.0006	0.0004	0.0008	0.0131	0	0	0.0026	0.0008	0.0016	0.0003	0.0018	0.0003	0.0040	0	0.0046	0	0	.	.	0	.	0	0	0	0	.	0.0046	0	.	0.547	0.06648	T	0.719	0.05363	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.6	0.17834	N	0.107	0.09207	-0.9707	0.37052	T	0.020	0.08313	T	6	0.07296324	0.10962	T	9.99E-4	0.01073	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.002687802964479572	0.00249	.	.	.	.	.	.	.	.	-0.27672	0.11018	T	-0.635266	0.10018	T	0.152271747850001	0.17283	T	0.536146	0.17993	T	.	.	.	.	.	.	.	.	-5.302	0.39963	T	.	.	.	.	.	.	.	-0.405505	0.02192	0.217	0.83628506728868413	0.14831	0.00199	0.01145	N	AEFI	0.041461	0.06306	N	-1.03508614690336	0.07882	0.3677276	-1.22784383968943	0.05467	0.260559	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.896000	0.01696	-4.906000	0.01932	-1.772000	0.00663	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	59.47	9	chr16	21402571	.	C	T	59.47	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.66;DP=175;ExcessHet=0;FS=0;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.028;MQ=20.52;MQRankSum=-1.559;QD=6.61;ReadPosRankSum=2.15;SOR=0.527	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,101	17	0	1	1
chr16	27749769	27749769	G	T	exonic	KATNIP	.	nonsynonymous SNV	KATNIP:NM_015202:exon16:c.G2809T:p.D937Y	.	427	1065	29	1	0	31	0.0143452	.	.	.	590796	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	0.0244347244217	0.0019	0.00119808	0.0026	0.0005	0.0016	0.0001	0.0003	0.0030	0.0046	0.0050	0.0023415	362	154602	rs139603388	0.0021	0.0021	0.0019	0.0022	0.0113	0.0020	0.0020	0.0091	0.0083	0.0002	0.0015	0.0113	7.566e-05	0.0010	0.0113	0.0018	0.0028	0.0048	0.0016	0.0016	0.0014	0.0018	0.0064	0.0014	0.0014	0.0047	0.0041	0.0004	0.0033	0.0008	0.0101	0.0002	0.0007	0.0204	0.0018	0.0024	0.0064	0.016	0.51853	D	0.022	0.57587	D	0.017	0.17573	B	0.019	0.18783	B	0.673897	0.10317	N	0.853808	1	0.08975	N	2.4	0.69460	M	2.89	0.10196	T	-1.41	0.34795	N	0.178	0.19190	-1.0074	0.27727	T	0.027	0.11663	T	10	0.0036624074	0.00067	T	0.024435	0.47428	T	0.039	0.10176	.	.	0.124217242631	0.12060	0.3206566646174449	0.31978	0.561359108401	0.52642	0.244149789214	0.03177	T	0.007078	0.06498	T	-0.590743	0.00166	T	-0.620385	0.11155	T	0.0208218451589346	0.00782	T	0.59944	0.22338	T	0.08299885	0.19146	0.05143307	0.08275	0.08299885	0.19146	0.05143307	0.08274	-5.614	0.42920	T	.	.	0.100	0.17275	B	.	.	0.864212	0.12365	8.905	0.97492322916300633	0.34251	0.37915	0.25870	N	AEFDBI	0.129094	0.24713	N	-0.901725982473941	0.10801	0.5179883	-0.935435935864443	0.11261	0.5726477	0.901844998399076	0.26111	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.59	2.62	0.30337	1.558000	0.35917	1.003000	0.23275	-0.133000	0.13014	0.086000	0.22486	0.000000	0.08366	0.001000	0.02609	0.1767:0.0:0.8233:0.0	8.898	0.34636	571	0.70397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.008152	0.008772	0.050000	0.017241	0.006098	0.007576	0.02632	983.33	40	chr16	27749769	.	G	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=742;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.157;SOR=1.076	GT:AD:DP:GQ:PL	0/1:46,35:81:99:997,0,1179	18	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1171.4	182	chr16	29383301	.	T	C	1171.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.543;DP=1668;ExcessHet=0.119;FS=5.493;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=51.34;MQRankSum=-1.131;QD=4.26;ReadPosRankSum=-3.302;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,40:171:99:0|1:29383231_G_T:964,0,3567:29383231	15	0	2	2
chr16	29485391	29485402	GCTGAGGGTGGA	-	exonic	NPIPB12	.	nonframeshift deletion	NPIPB12:NM_001355401:exon8:c.1074_1085del:p.P359_A362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449856855	0.0007	0.0009	0.0007	0.0007	0.0018	0.0007	0.0006	0.0009	0.0007	0.0016	0.0003	0.0030	0.0010	0.0006	0.0018	0.0006	0.0012	0.0006	0.0003	0.0002	0.0004	0.0002	0.0031	0.0001	8.732e-05	0.0001	8.367e-05	0.0002	0	0	0	0.0031	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9846.09	54	chr16	29485390	.	CGCTGAGGGTGGA	C	9846.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.602;DP=1746;ExcessHet=5.3738;FS=10.688;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=30.61;MQRankSum=1.21;QD=11.14;ReadPosRankSum=-2.341;SOR=1.694	GT:AD:DP:GQ:PL	0/1:81,25:116:99:745,0,4107	17	0	2	0
chr16	29810105	29810114	GGCAGCGGCA	0	exonic	MAZ	.	.	.	.	1	187	13	1	24	39	0.0385604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7100.79	44	chr16	29810105	.	GGCAGCGGCA	*	7100.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/1:44,39:83:99:1428,0,1665	18	0	1	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:44,39:83:99:1428,0,1665	14	0	5	0
chr16	30979984	30979984	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C4198T:p.R1400C	.	631	884	6	1	0	8	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	.	0.0161741	0.0490	0	0.025	0	0	0.0004	0.0213	0.0713	0.0042626	659	154602	rs557095006	0.0041	0.0040	0.0022	0.0061	0.0707	0.0040	0.0040	0.0691	0.0684	0.0002	0.0001	8.625e-05	0	2.445e-05	0.0008	8.09e-05	0.0040	0.0707	0.0036	0.0036	0.0021	0.0051	0.0839	0.0033	0.0032	0.0771	0.0745	0.0001	0.1311	0.0002	0	0.0002	0	0	0.0001	0.0005	0.0839	0.005	0.63226	D	0.172	0.30241	T	0.431	0.35606	B	0.109	0.31370	B	0.006738	0.31837	N	0.250098	0.99999	0.58761	D	0.55	0.14455	N	0.43	0.56772	T	-1.21	0.30762	N	0.163	0.17140	-1.0382	0.17863	T	0.081	0.32002	T	10	0.0017291903	0.00022	T	.	.	.	0.102	0.29158	.	.	.	.	0.5353472984659371	0.53459	0.304605667835	0.32764	0.855499386787	0.90442	D	0.026785	0.19750	T	-0.479926	0.00740	T	-0.407084	0.32562	T	0.0169524249608776	0.00446	T	0.761624	0.38671	T	0.099416025	0.23461	0.055610847	0.09786	0.099416025	0.23461	0.055610847	0.09786	-6.97	0.53814	T	.	.	0.303	0.53261	B	.	.	2.642810	0.34393	19.61	0.79431878100807918	0.12739	0.34742	0.25139	N	AEFDBHCI	0.125505	0.24204	N	-0.703605897555126	0.15920	0.8066206	-0.747253410266405	0.15789	0.8321826	0.99999734650294	0.74766	0.696267	0.57585	0	0.71359	0.82159	0	0.691665	0.62940	0	0.491896	0.07777	0	.	.	3.96	2.97	0.33479	0.655000	0.24618	3.711000	0.39556	0.518000	0.23583	0.021000	0.19753	1.000000	0.68203	0.016000	0.10718	0.387:0.613:0.0:0.0	9.788	0.39856	37	0.98026	.	.	.	.	.	.	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	0.011348	0.000000	0.003984	0.008130	0.000000	0.000000	0.000000	0.049020	0.02632	608.38	22	chr16	30979984	.	C	T	608.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.172;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,17:34:99:0|1:30979983_G_T:622,0,663:30979983	18	0	1	0
chr16	31135476	31135476	C	T	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon1:c.G23A:p.G8E	.	415	1067	39	1	0	41	0.0188506	.	.	.	703656	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0042	0.00119808	0.0086	0.0008	0.0182	0	0.0018	0.0137	0.0117	0.0024	0.003564	551	154602	rs148529565	0.0040	0.0040	0.0039	0.0042	0.0295	0.0039	0.0039	0.0259	0.0245	0.0019	0.0060	0.0088	2.658e-05	0.0008	0.0295	0.0041	0.0068	0.0019	0.0040	0.0040	0.0040	0.0040	0.0082	0.0037	0.0036	0.0071	0.0066	0.0007	0.0143	0.0082	0.0081	0	0.0005	0.0408	0.0054	0.0095	0.0014	0.0	0.91255	D	0.112	0.37310	T	0.006	0.13644	B	0.004	0.10090	B	0.091122	0.20341	N	0.352786	1	0.08975	N	1.7	0.43825	L	-2.3	0.88611	D	-1.26	0.44657	N	0.204	0.22614	-0.2765	0.75635	T	0.584	0.85056	D	10	0.0061965585	0.00140	T	.	.	.	0.412	0.72328	.	.	0.762845975942	0.76068	0.7818940532073662	0.78140	0.372019112301	0.38704	0.312666118145	0.12310	T	0.267357	0.63938	T	-0.235389	0.15943	T	-0.107728	0.62792	T	0.0438740286469159	0.04397	T	0.418458	0.11053	T	0.16014574	0.35936	0.1923122	0.42738	0.16014574	0.35936	0.1923122	0.42737	-6.218	0.48069	T	.	.	0.103	0.39949	B	.;.;.;.	.;.;.;.	2.279405	0.29141	18.03	0.98302755785505158	0.40058	0.07151	0.13176	N	AEFDGBCI	0.176388	0.30359	N	-0.641614941074266	0.17705	0.913314	-0.79053367496873	0.14727	0.7710162	0.99999860014021	0.74766	0.441713	0.08003	0	0.547309	0.14657	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	4.42	1.31	0.20837	0.536000	0.22838	.	.	-0.316000	0.05924	0.001000	0.13787	0.961000	0.29326	0.099000	0.18236	0.1934:0.5991:0.0:0.2076	3.746	0.08073	59	0.97452	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.032487	0.085859	0.038043	0.021341	0.050000	0.008621	0.021472	0.003788	0.07895	2545.77	34	chr16	31135476	.	C	T	2545.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.107;DP=689;ExcessHet=0;FS=1.15;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=0.07;SOR=0.456	GT:AD:DP:GQ:PL	0/1:13,28:41:99:745,0,331	17	1	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|1:104,38:142:99:0|1:50669118_A_G:842,0,3421:50669118	14	0	5	0
chr16	53304347	53304347	C	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon30:c.C4919G:p.P1640R,CHD9:NM_001352157:exon30:c.C4919G:p.P1640R,CHD9:NM_001352158:exon30:c.C4820G:p.P1607R,CHD9:NM_001382354:exon30:c.C4820G:p.P1607R,CHD9:NM_001382355:exon30:c.C4820G:p.P1607R,CHD9:NM_001308319:exon31:c.C6341G:p.P2114R,CHD9:NM_001352127:exon31:c.C6341G:p.P2114R,CHD9:NM_001382353:exon31:c.C6341G:p.P2114R,CHD9:NM_025134:exon31:c.C6341G:p.P2114R	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0292612842044	.	0.000599042	0.0004	0	9.139e-05	0.0001	0	1.557e-05	0.0047	0.0029	0.0003558	55	154602	rs560691291	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0034	0.0032	0.0001	0.0001	0	0	0	0.0009	2.069e-05	0.0003	0.0037	0.0001	0.0001	5.141e-05	0.0002	0.0031	8.165e-05	6.721e-05	0.0019	0.0016	2.405e-05	0	0	0	0.0002	0	0	2.941e-05	0	0.0031	0.0	0.91255	D	0.144	0.33109	T	1.0	0.90584	D	0.997	0.92359	D	0.000016	0.62929	D	0.000000	1	0.81001	D	1.04	0.26193	L	-0.46	0.70014	T	-2.76	0.58569	D	0.622	0.72209	-0.2721	0.75755	T	0.434	0.77504	T	10	0.013212591	0.00281	T	0.029261	0.51800	D	0.329	0.65126	0.21	0.12781	0.745722214602	0.74343	0.3563549178966794	0.35549	1.42918550953	0.85773	0.729858398438	0.71486	T	0.072485	0.34464	T	-0.00325727	0.51206	T	0.219494	0.84150	D	0.0999665289847178	0.12353	T	0.918108	0.71494	D	0.26498795	0.49567	0.41509137	0.65633	0.26498795	0.49566	0.41509137	0.65633	-4.333	0.28637	T	.	.	0.438	0.68073	A	.;.;.;.;.	.;.;.;.;.	3.828461	0.55324	23.6	0.99830057426603924	0.91198	0.99367	0.95101	D	AEFGBI	0.844018	0.76101	D	0.803749309592322	0.86338	8.853967	0.839808235492084	0.92405	11.40847	0.999999999998844	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	7.328000	0.78426	6.017000	0.52736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.860	0.99763	204	0.92044	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.02632	1335.33	33	chr16	53304347	.	C	G	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.497;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-2.035;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1349,0,1400	18	0	1	0
chr16	56975134	56975134	C	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon9:c.C784A:p.Q262K,CETP:NM_000078:exon10:c.C964A:p.Q322K	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.105607745225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.554	0.46182	T	0.001	0.20002	B	0.004	0.19653	B	0.072954	0.21377	U	0.451961	1	0.08975	N	2.34	0.67151	M	3.0	0.09167	T	-0.85	0.30346	N	0.308	0.36148	-0.9656	0.38092	T	0.018	0.07423	T	10	0.15469855	0.29175	T	0.105608	0.78080	D	0.109	0.30843	0.635	0.77142	0.289474373501	0.28556	0.34213266171814644	0.34126	0.169117213538	0.19062	0.309314519167	0.11803	T	0.115818	0.43469	T	-0.167992	0.25539	T	-0.479086	0.24544	T	0.154161669574209	0.17430	T	0.782022	0.41734	T	0.3105508	0.53834	0.16632342	0.38429	0.3105508	0.53834	0.16632342	0.38429	-3.386	0.14869	T	0.6493177497098189	0.72122	0.067	0.02578	B	.;.;.	.;.;.	0.915389	0.12898	9.410	0.96754458825891854	0.30976	0.23847	0.22207	N	AEFDBHCIJ	0.193710	0.32082	N	-0.837403982147952	0.12362	0.6021141	-0.797745416331621	0.14550	0.7608352	0.999978367446295	0.50053	0.653281	0.48532	0	0.659037	0.61890	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.26	3.26	0.36471	1.662000	0.37035	1.302000	0.25481	0.440000	0.21072	0.021000	0.19753	0.003000	0.18671	0.184000	0.21420	0.0:1.0:0.0:0.0	10.330	0.42996	711	0.56613	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, 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	696.33	33	chr16	56975134	.	C	A	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=702;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.599;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,32:79:99:710,0,1177	18	0	1	0
chr16	67287984	67287984	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon17:c.C2947T:p.R983C,PLEKHG4:NM_001129728:exon19:c.C3190T:p.R1064C,PLEKHG4:NM_001129729:exon19:c.C3190T:p.R1064C,PLEKHG4:NM_001129727:exon20:c.C3190T:p.R1064C	.	1	1514	7	0	0	7	0.00230643	.	.	.	4048586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.177298958031	0.0002	0.000798722	0.0004	0	0.0010	0	0	0.0006	0.0011	0.0001	0.0003687	57	154602	rs145404113	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	8.964e-05	0.0012	0.0011	0	0	0.0042	0.0004	0.0006	0.0001	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0025	0.0006	0	9.429e-05	0.0034	0.0004	0.0028	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	1	0.81001	D	3.18	0.88827	M	1.51	0.30937	T	-7.26	0.94377	D	0.804	0.79986	-0.6037	0.64664	T	0.219	0.58201	T	9	0.066185415	0.09040	T	0.177299	0.85279	D	0.433	0.73879	.	.	0.545045102275	0.54158	0.6840392719055777	0.68342	1.08819762492	0.77359	0.581576406956	0.50308	T	0.542633	0.84367	D	-0.0695148	0.41406	T	0.0769296	0.75372	D	0.191548533716026	0.19936	T	0.963304	0.86656	D	0.64327705	0.75006	0.44955432	0.67961	0.64327705	0.75007	0.44955432	0.67961	-7.985	0.60968	D	.	.	0.267	0.64412	B	.;.;.;.;.	.;.;.;.;.	5.165811	0.86574	29.0	0.99929911111816982	0.99334	0.94041	0.59935	D	AEFDBI	0.693382	0.65273	D	0.615586410228669	0.74160	6.085682	0.539783995472921	0.70691	5.542343	0.999993004459866	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.05	5.05	0.67566	2.747000	0.47151	6.018000	0.52751	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	15.570	0.76071	23	0.98420	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1846.33	34	chr16	67287984	.	C	T	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=784;ExcessHet=0;FS=3.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.056;SOR=0.474	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1860,0,1772	18	0	1	0
chr16	67431366	67431366	C	G	exonic	HSD11B2	.	nonsynonymous SNV	HSD11B2:NM_000196:exon1:c.C118G:p.L40V	Apparent mineralocorticoid excess, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.982716923525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.318	0.19246	T	0.384	0.34453	B	0.125	0.32635	B	0.067861	0.21713	U	0.418027	0.949677	0.26529	N	0	0.06538	N	-1.69	0.82985	D	-0.58	0.17417	N	0.293	0.33140	-0.8280	0.53429	T	0.252	0.62178	T	10	0.28452384	0.46034	T	0.982717	0.99914	D	0.146	0.38789	0.339	0.32979	0.782681097998	0.78067	0.26467465531720435	0.26380	1.4404443071	0.85963	0.903773903847	0.96847	D	0.270269	0.64252	T	-0.0547541	0.43723	T	-0.316427	0.42965	T	0.205082380312755	0.20693	T	0.570643	0.20320	T	0.07538038	0.16979	0.114544965	0.27649	0.07538038	0.16979	0.114544965	0.27648	-4.992	0.36753	T	.	.	0.086	0.10931	B	.	.	2.754207	0.36112	20.2	0.99015029847380531	0.50441	0.32784	0.24670	N	ALL	0.074762	0.14994	N	-0.486936273179665	0.22508	1.202339	-0.374222927702064	0.25768	1.419107	0.999999999999975	0.74766	0.437478	0.07067	0	0.607795	0.50457	0	0.239995	0.05000	1	0.603991	0.37454	0	.	.	3.89	2.93	0.33092	0.014000	0.13228	2.977000	0.35823	-0.290000	0.06302	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	0.0:0.9018:0.0:0.0982	10.568	0.44375	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	112.68	4	chr16	67431366	.	C	G	112.68	.	AC=2;AF=0.077;AN=26;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.178;MLEAC=2;MLEAF=0.077;MQ=60;QD=28.17;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:132,12,0	12	1	0	6
chr16	70270312	70270312	G	A	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon6:c.C700T:p.P234S	.	0	1508	14	0	0	14	0.00462046	.	.	.	213221	Leukoencephalopathy,_hereditary_diffuse,_with_spheroids_2|Trichothiodystrophy_8,_nonphotosensitive|Charcot-Marie-Tooth_disease_axonal_type_2N|Developmental_and_epileptic_encephalopathy,_29|AARS1-related_disorder|not_provided|Charcot-Marie-Tooth_disease_type_2|Inborn_genetic_diseases	MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661|MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339,Orphanet:442835|.|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.722	0.194417221843	0.0012	0.00199681	0.0018	0.0009	0.0035	0.0001	0	0.0017	0.0077	0.0026	0.0017917	277	154602	rs141840552	0.0016	0.0016	0.0015	0.0017	0.0083	0.0015	0.0015	0.0064	0.0058	0.0006	0.0033	0.0007	2.519e-05	9.36e-05	0.0083	0.0015	0.0019	0.0031	0.0015	0.0015	0.0014	0.0016	0.0048	0.0014	0.0013	0.0039	0.0036	0.0005	0	0.0048	0.0012	0	0	0.0136	0.0015	0.0047	0.0031	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.17	0.88688	M	-1.81	0.83970	D	-7.55	0.95188	D	0.746	0.74553	0.659	0.92656	D	0.754	0.91634	D	10	0.06569886	0.08904	T	0.194417	0.86361	D	0.722	0.90191	.	.	0.922210218927	0.92142	0.7786730908726052	0.77818	0.55814765762	0.52403	0.683518528938	0.64774	T	0.791345	0.94583	D	-0.0746405	0.40582	T	0.117902	0.78097	D	0.103330244970028	0.12719	T	0.979702	0.93041	D	0.8979881	0.91203	0.9296901	0.97073	0.9360494	0.94846	0.9131859	0.95916	-8.262	0.62842	D	0.5472215306938272	0.61619	0.362	0.57367	A	.	.	4.830553	0.78774	27.0	0.99911775024859228	0.98095	0.97165	0.73072	D	AEFDGBCI	0.925070	0.90406	D	1.01178846863808	0.96096	14.29664	0.966259145137397	0.97861	16.91341	0.999999969601682	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	8.031000	0.89168	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.790	0.88460	149	0.94096	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core 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	0.007049	0.000000	0.012228	0.011696	0.000000	0.017241	0.000000	0.003788	0.05263	3628.83	37	chr16	70270312	.	G	A	3628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.55;DP=936;ExcessHet=0.119;FS=2.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.737;SOR=0.846	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1809,0,2248	17	0	2	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	39.43	152	chr16	70941764	.	T	C	39.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=1287;ExcessHet=0;FS=22.059;InbreedingCoeff=-0.0336;MLEAC=1;MLEAF=0.026;MQ=49.95;MQRankSum=-5.103;QD=0.39;ReadPosRankSum=-1.785;SOR=4.318	GT:AD:DP:GQ:PL	0/1:89,11:100:53:53,0,2377	18	0	1	0
chr16	71850466	71850466	G	T	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G726T:p.L242F	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00387732748669	.	0.00159744	0.0028	0	0	0	0	0.0053	0	0.0014	0.0007568	117	154602	rs140112104	0.0028	0.0027	0.0028	0.0028	0.0074	0.0027	0.0027	0.0056	0.0050	0.0005	0.0023	0.0053	0	0.0008	0.0074	0.0031	0.0023	0.0016	0.0022	0.0022	0.0020	0.0023	0.0034	0.0020	0.0019	0.0031	0.0029	0.0006	0	0.0029	0.0037	0	0.0005	0.0170	0.0034	0.0019	0.0006	0.059	0.37536	T	0.693	0.05863	T	0.255	0.31319	B	0.025	0.20508	B	.	.	.	.	0.998111	0.22343	N	0	0.06538	N	1.4	0.33630	T	-0.88	0.23808	N	0.133	0.12913	-1.0951	0.04738	T	0.030	0.13067	T	9	0.004748881	0.00100	T	0.003877	0.09117	T	0.046	0.12618	0.102	0.01589	0.229924730088	0.22615	0.13991815819134318	0.13914	.	.	0.476045012474	0.35513	T	0.008887	0.08127	T	-0.52941	0.00387	T	-0.535658	0.18726	T	0.0107182480058163	0.00151	T	0.734227	0.35027	T	0.059047904	0.11953	0.11161324	0.26926	0.059047904	0.11953	0.11161324	0.26925	-4.462	0.30388	T	.	.	0.084	0.09481	B	.	.	3.328884	0.45818	22.2	0.98841391330813078	0.47135	0.87012	0.46427	D	AEFBCI	0.236999	0.35936	N	-0.199905727226656	0.33138	1.876696	0.00204800491214126	0.39810	2.366166	0.963718871140352	0.28710	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.28	0.50183	0.458000	0.21603	6.514000	0.55815	0.676000	0.76740	0.900000	0.31427	1.000000	0.68203	0.999000	0.91618	0.1224:0.1297:0.7479:0.0	9.837	0.40142	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002571	0.006250	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.02632	1899.33	33	chr16	71850466	.	G	T	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.047;DP=792;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.174;SOR=0.806	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1913,0,1967	18	0	1	0
chr16	71977335	71977335	G	A	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1660T:p.P554S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.019e-06	4.788e-06	1.415e-06	8.718e-06	0.0002	2.09e-06	1.34e-06	2.01e-06	1.32e-06	0	0	0	0	0	0.0002	5.583e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.998	0.73220	D	0.862	0.61339	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.30252522	0.47789	T	.	.	.	.	.	.	.	0.253205268125	0.24938	0.5043858954531156	0.50360	.	.	0.322745621204	0.13837	T	0.131092	0.46038	T	-0.0343243	0.46785	T	-0.287081	0.46076	T	.	.	.	0.509849	0.16238	T	0.15842262	0.35642	0.30899137	0.56915	0.15842262	0.35642	0.30899137	0.56914	-5.643	0.43183	T	.	.	0.128	0.27313	B	.	.	2.820046	0.37150	20.4	0.66517152275971791	0.08082	0.72630	0.35543	D	AEFI	.	.	.	.	.	.	.	.	.	0.0429259456075362	0.14548	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.940017	0.60129	5.25	4.28	0.50183	1.058000	0.30114	5.249000	0.48087	0.596000	0.33519	0.732000	0.28943	1.000000	0.68203	0.131000	0.19607	0.0866:0.0:0.9134:0.0	12.115	0.53160	91	0.96221	.	.	.	.	.	.	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	2554.33	190	chr16	71977335	.	G	A	2554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=2966;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.223;SOR=0.591	GT:AD:DP:GQ:PL	0/1:85,100:185:99:2568,0,1993	18	0	1	0
chr16	74675058	74675058	C	T	exonic	MLKL	.	nonsynonymous SNV	MLKL:NM_001142497:exon5:c.G659A:p.R220Q,MLKL:NM_152649:exon10:c.G1283A:p.R428Q	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.00239617	0.0014	0	0	0.0001	0	3.012e-05	0	0.0099	0.0012031	186	154602	rs555966640	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0002	3.237e-05	0.0006	0.0080	0.0003	0.0003	0.0002	0.0005	0.0085	0.0002	0.0002	0.0064	0.0057	9.623e-05	0	0	0	0	0	0	5.88e-05	0	0.0085	0.3	0.24661	T	0.318	0.25987	T	0.795	0.44777	P	0.081	0.28987	B	0.098386	0.19983	N	0.493810	1	0.08975	N	1.135	0.28956	L	0.98	0.82347	T	-0.5	0.22508	N	0.207	0.28498	-0.6143	0.64225	T	0.350	0.71415	T	10	0.0042817295	0.00086	T	.	.	.	0.082	0.23913	.	.	0.638037674236	0.63506	0.23746737400942539	0.23661	0.0195968451124	0.01924	0.205800965428	0.00645	T	0.147	0.48427	T	-0.446473	0.01185	T	-0.407565	0.32507	T	0.0123460373218113	0.00201	T	0.528747	0.18617	T	0.18465531	0.39791	0.14848736	0.35098	0.18465531	0.39791	0.14848736	0.35097	-2.932	0.27612	T	.	.	0.069	0.07937	B	.;.	.;.	-1.074248	0.00672	0.019	0.73872005436261312	0.10486	0.01182	0.04236	N	AEFBI	0.047607	0.08034	N	-0.909511165109099	0.10618	0.5082996	-1.0276405207943	0.09179	0.4552631	0.736789145841922	0.23144	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.83	0.417	0.15639	-1.003000	0.03792	-12.432000	0.00525	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5793:0.0:0.4207	7.320	0.25695	555	0.71762	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1561.33	34	chr16	74675058	.	C	T	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=790;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.655;SOR=0.916	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1575,0,1787	18	0	1	0
chr16	81061729	81061729	G	A	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.C620T:p.A207V,C16orf46:NM_152337:exon4:c.C620T:p.A207V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0107791047062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.61642	D	0.999	0.77913	D	0.974	0.73157	D	0.005746	0.32538	N	0.216348	0.951355	0.37735	D	2.015	0.55033	M	2.06	0.20523	T	-2.73	0.58085	D	0.337	0.39356	-1.0768	0.07983	T	0.098	0.36651	T	10	0.34564552	0.51534	T	0.010779	0.27705	T	0.180	0.45073	0.164	0.06842	0.201204373187	0.19734	0.25213300241353903	0.25127	0.102958494008	0.11647	.	.	.	0.021963	0.17012	T	-0.0734052	0.40780	T	-0.343218	0.39981	T	0.905658364295959	0.55946	D	0.812119	0.46368	T	0.17469977	0.38288	0.1406279	0.33516	0.17469977	0.38288	0.1406279	0.33515	-4.408	0.29665	T	.	.	0.306	0.53472	B	.;.	.;.	3.526666	0.49461	22.8	0.99880837872198425	0.95733	0.95164	0.63673	D	AEFDBI	0.433055	0.49467	N	0.507007066082718	0.67502	5.09039	0.502083746781657	0.68132	5.177895	0.999996850777417	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	5.121000	0.64530	5.121000	0.47587	0.676000	0.76740	0.996000	0.39380	0.980000	0.30356	0.005000	0.06747	0.0:0.0:1.0:0.0	17.297	0.87059	674	0.60593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2683.33	170	chr16	81061729	.	G	A	2683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.629;DP=1997;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-0.895;SOR=0.654	GT:AD:DP:GQ:PL	0/1:58,98:156:99:2697,0,1462	18	0	1	0
chr16	81216314	81216314	C	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon2:c.G394A:p.G132R	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0033	0.00179712	0.0035	0.0002	0.0011	0	0.0009	0.0033	0.0033	0.0109	0.0032341	500	154602	rs117142104	0.0040	0.0040	0.0038	0.0041	0.0108	0.0039	0.0039	0.0102	0.0100	0.0004	0.0024	0.0040	7.557e-05	0.0019	0.0049	0.0038	0.0041	0.0108	0.0027	0.0027	0.0024	0.0029	0.0103	0.0024	0.0024	0.0081	0.0072	0.0008	0.0011	0.0042	0.0043	0	0.0015	0.0034	0.0033	0.0019	0.0103	.	.	.	.	.	.	0.011	0.15914	B	0.007	0.12992	B	0.070159	0.02240	N	1.864710	1	0.08975	N	.	.	.	2.35	0.16217	T	-0.89	0.24026	N	0.304	0.34336	-1.0130	0.25975	T	0.025	0.10553	T	9	0.0045502484	0.00094	T	.	.	.	0.090	0.26093	0.456	0.52102	0.0666544352282	0.05500	.	.	.	.	0.238974839449	0.02699	T	.	.	.	-0.544696	0.00314	T	-0.547233	0.17593	T	0.00106614623460968	0.00010	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	-2.788	0.08073	T	.	.	0.100	0.17060	B	.	.	-0.712663	0.01291	0.069	0.75862912353876277	0.11240	0.02398	0.06797	N	AEFDBI	0.043468	0.06874	N	-1.26278037488015	0.04133	0.1859769	-1.36162422211013	0.03670	0.1717083	0.178829488382355	0.17842	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	-5.71	0.02218	-0.351000	0.07760	-6.570000	0.01363	-0.186000	0.09761	0.102000	0.22834	0.000000	0.08366	0.011000	0.09372	0.0:0.2331:0.2156:0.5513	9.345	0.37269	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.008621	0.009146	0.011364	0.05263	4180.83	34	chr16	81216314	.	C	T	4180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.18;DP=910;ExcessHet=0.119;FS=2.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.206;SOR=0.846	GT:AD:DP:GQ:PL	0/1:55,76:131:99:2140,0,1358	17	0	2	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	3	1438	76	5	0	86	0.0290344	.	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal 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	0.020645	0.000000	0.023098	0.017647	0.100000	0.008621	0.021341	0.015152	0.07895	1963.79	33	chr16	81912673	.	A	G	1963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.274;DP=711;ExcessHet=0.3672;FS=1.304;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.748;SOR=0.573	GT:AD:DP:GQ:PL	0/1:24,19:43:99:454,0,600	16	0	3	0
chr16	83032186	83032186	G	A	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220489:exon3:c.G334A:p.V112I,CDH13:NM_001220491:exon3:c.G334A:p.V112I,CDH13:NM_001220492:exon3:c.G334A:p.V112I,CDH13:NM_001257:exon3:c.G334A:p.V112I,CDH13:NM_001220488:exon4:c.G475A:p.V159I	.	423	1076	21	2	0	25	0.0114837	.	.	.	726822	not_provided|CDH13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0173886277024	0.0017	0.000599042	0.0027	0.0002	0.0010	0	0.0005	0.0035	0.0023	0.0049	0.0024903	385	154602	rs200199969	0.0023	0.0023	0.0022	0.0025	0.0173	0.0023	0.0022	0.0146	0.0136	0.0004	0.0015	0.0105	2.523e-05	0.0004	0.0173	0.0020	0.0028	0.0056	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0017	0.0026	0.0023	0.0004	0	0.0008	0.0104	0	0.0004	0.0170	0.0028	0.0038	0.0039	0.216	0.19225	T	0.848	0.43913	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-0.08	0.63911	T	-0.13	0.09627	N	0.154	0.18239	-0.9578	0.39589	T	0.158	0.49060	T	9	0.0044552386	0.00091	T	0.017389	0.39069	T	0.056	0.15993	.	.	0.620859307327	0.61778	0.21591271675986948	0.21507	0.0610399350882	0.06795	0.311910480261	0.12196	T	0.099392	0.40416	T	-0.514157	0.00475	T	-0.510787	0.21235	T	0.00325878001698791	0.00034	T	0.771423	0.40183	T	0.018378975	0.00359	0.024692005	0.00493	0.016962029	0.00235	0.03030839	0.01470	-3.238	0.22243	T	.	.	0.070	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.287551	0.06639	3.138	0.97139356803091581	0.32534	0.09254	0.15047	N	AEFBI	0.056109	0.10347	N	-0.702517281820048	0.15951	0.808437	-0.66485474165278	0.17842	0.9505168	0.387530462930405	0.20016	0.719381	0.83141	0	0.573888	0.26702	0	0.607057	0.38367	0	0.733575	0.97253	0	.	.	5.65	3.7	0.41607	0.038000	0.13749	1.273000	0.25303	0.618000	0.50648	0.006000	0.17386	0.166000	0.23302	0.585000	0.31016	0.1426:0.2358:0.6215:0.0	7.609	0.27283	969	0.06854	Cadherin prodomain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.010101	0.010870	0.032164	0.000000	0.034483	0.003049	0.011364	0.02632	1561.33	34	chr16	83032186	.	G	A	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.424;DP=834;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.769;SOR=0.817	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1575,0,1723	18	0	1	0
chr16	83959356	83959356	G	A	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon3:c.G164A:p.R55K	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0019	0.00359425	0.0033	0.0002	0.0005	0	0.0002	0.0025	0.0067	0.0130	0.0030013	464	154602	rs143490160	0.0022	0.0022	0.0018	0.0025	0.0118	0.0021	0.0021	0.0112	0.0109	0.0002	0.0006	0.0241	2.519e-05	7.515e-05	0.0099	0.0011	0.0034	0.0118	0.0018	0.0018	0.0017	0.0018	0.0104	0.0016	0.0015	0.0081	0.0073	0.0002	0	0.0007	0.0239	0	0	0.0204	0.0014	0.0057	0.0104	0.635	0.09101	T	0.951	0.02934	T	0.013	0.16609	B	0.005	0.11217	B	0.003357	0.35069	N	0.354054	0.945505	0.26659	N	1.725	0.44537	L	2.0	0.41058	T	-0.17	0.10136	N	0.278	0.32259	-1.0072	0.27789	T	0.025	0.10821	T	10	0.006587893	0.00149	T	.	.	.	0.075	0.21907	.	.	0.358540694251	0.35469	0.5104524079521334	0.50967	0.0971889597224	0.10982	0.455946445465	0.32756	T	0.004022	0.11817	T	-0.538629	0.00341	T	-0.536092	0.18682	T	0.00412382532917024	0.00044	T	0.618038	0.23687	T	0.09735337	0.22948	0.09272114	0.21864	0.09735337	0.22947	0.09272114	0.21864	.	.	.	.	.	0.078	0.11414	B	.;.;.;.;.	.;.;.;.;.	2.641038	0.34369	19.61	0.87868565668014598	0.17542	0.79868	0.39664	D	AEFBCI	0.515469	0.54241	D	-0.497844963874124	0.22151	1.180779	-0.317199824682414	0.27542	1.529072	0.998143067377048	0.36487	0.566229	0.32551	0	0.588066	0.40923	0	0.578056	0.29568	0	0.674467	0.66132	0	.	.	4.72	3.65	0.40985	1.881000	0.39273	3.342000	0.37715	0.613000	0.49114	0.999000	0.42656	1.000000	0.68203	0.984000	0.60418	0.1936:0.0:0.8064:0.0	9.156	0.36153	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.011696	0.000000	0.008621	0.015244	0.007576	0.05263	2176.83	38	chr16	83959356	.	G	A	2176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=876;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.27;SOR=0.664	GT:AD:DP:GQ:PL	0/1:64,40:104:99:840,0,1534	17	0	2	0
chr16	84155744	84155744	G	A	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_178452:exon5:c.G736A:p.D246N	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	255917	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_13	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.133	.	0.0062	0.00738818	0.0022	0.0225	0.0011	0	0	0.0003	0.0011	6.061e-05	0.0021992	340	154602	rs151099638	0.0011	0.0011	0.0011	0.0010	0.0210	0.0010	0.0010	0.0197	0.0192	0.0210	0.0015	0	0.0002	0	0.0012	0.0006	0.0018	9.275e-05	0.0060	0.0060	0.0061	0.0058	0.0202	0.0057	0.0055	0.0191	0.0186	0.0202	0	0.0020	0	0.0002	0	0	0.0005	0.0033	0	0.338	0.12796	T	0.586	0.08332	T	0.197	0.29559	B	0.034	0.22546	B	0.106363	0.19617	N	0.530450	1	0.08975	N	1.34	0.33385	L	2.21	0.18414	T	-1.65	0.39503	N	0.348	0.38950	-0.9630	0.38606	T	0.005	0.01578	T	10	0.009695202	0.00218	T	.	.	.	0.133	0.36157	.	.	0.30921473904	0.30521	0.2723390484870687	0.27146	0.0203864616908	0.02001	0.259944140911	0.04884	T	7.13E-4	0.00326	T	-0.716658	0.00029	T	-0.78595	0.02278	T	0.00642228753060511	0.00071	T	0.893211	0.63049	D	0.06411031	0.13569	0.039302856	0.03991	0.06411031	0.13568	0.039302856	0.03991	-6.532	0.50533	T	.	.	0.086	0.10835	B	.	.	1.346310	0.17534	13.22	0.97151856854893426	0.32590	0.48488	0.28218	N	AEFBCI	0.102826	0.20617	N	-0.95219150674881	0.09643	0.4573025	-0.905927742044059	0.11954	0.6121439	0.00673057274441193	0.11292	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-1.98	0.07070	1.479000	0.35061	0.569000	0.19588	0.676000	0.76740	0.869000	0.30776	0.000000	0.08366	0.881000	0.42162	0.4462:0.0:0.4334:0.1204	6.125	0.19393	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.015152	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	685.33	37	chr16	84155744	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=2.77;SOR=0.656	GT:AD:DP:GQ:PL	0/1:41,27:68:99:699,0,1176	18	0	1	0
chr16	88435973	88435973	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8503C:p.E2835Q	Brittle cornea syndrome 1, Autosomal recessive	0	1485	33	4	0	41	0.0136167	.	.	.	326712	ZNF469-related_disorder|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|not_specified|not_provided	.|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.021	0.381191108686	.	0.00139776	0.0038	0.0007	0.0028	0	0	0.0026	0	0.0058	0.0005757	89	154602	rs200153921	0.0011	0.0010	0.0009	0.0012	0.0227	0.0010	0.0010	0.0195	0.0183	0.0009	0.0011	0.0043	0	0	0.0227	0.0006	0.0021	0.0047	0.0010	0.0010	0.0009	0.0011	0.0052	0.0009	0.0008	0.0036	0.0031	0.0002	0	0.0010	0.0046	0	9.407e-05	0.0272	0.0010	0.0038	0.0052	0.271	0.15984	T	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.76	0.21215	N	0.029	0.00666	-0.9278	0.44458	T	0.010	0.03765	T	9	0.0073034167	0.00166	T	0.381191	0.92975	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10078178713489579	0.10009	.	.	0.251232206821	0.03898	T	0.01889	0.15149	T	-0.655829	0.00067	T	-0.714563	0.05063	T	0.0054582720408137	0.00059	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08560	B	.;.	.;.	0.162934	0.05532	1.993	0.96003666688408718	0.28422	0.01458	0.04877	N	AEFDBI	0.043533	0.06895	N	-1.16904501798776	0.05473	0.2496227	-1.25720120207156	0.05025	0.2384723	0.974507050025547	0.29548	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.9	-5.55	0.02336	-0.080000	0.11303	0.627000	0.20189	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2731:0.4976:0.2293:0.0	6.893	0.23424	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.000000	0.037313	0.017544	0.083333	0.041667	0.020548	0.012195	0.02632	2050.33	113	chr16	88435973	.	G	C	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=2151;ExcessHet=0;FS=4.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.74;SOR=0.489	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2064,0,2367	18	0	1	0
chr16	88864326	88864326	-	C	exonic	PABPN1L	.	frameshift insertion	PABPN1L:NM_001294328:exon7:c.619dupG:p.A207Gfs*44,PABPN1L:NM_001385709:exon7:c.600dupG:p.P201Afs*50,PABPN1L:NM_001080487:exon8:c.707dupG:p.L237Pfs*98	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.76e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs773683015	2.423e-05	2.394e-05	2.533e-05	2.31e-05	0.0002	1.744e-05	1.539e-05	1.968e-05	1.708e-05	0	0	0	0	2.048e-05	0.0002	2.775e-05	3.439e-05	0	3.284e-05	3.281e-05	0	6.718e-05	5.883e-05	1.26e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.883e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1578.29	35	chr16	88864326	.	G	GC	1578.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.08;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.735;SOR=0.637	GT:AD:DP:GQ:PL	0/1:47,60:107:99:1592,0,1183	18	0	1	0
chr16	89955219	89955219	C	T	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242819:exon3:c.C175T:p.R59C,DEF8:NM_001242821:exon3:c.C175T:p.R59C,DEF8:NM_001242816:exon4:c.C175T:p.R59C,DEF8:NM_001242818:exon4:c.C175T:p.R59C,DEF8:NM_001242822:exon4:c.C175T:p.R59C,DEF8:NM_017702:exon4:c.C175T:p.R59C,DEF8:NM_207514:exon4:c.C358T:p.R120C,DEF8:NM_001242820:exon5:c.C175T:p.R59C	.	.	.	.	.	.	.	.	.	.	.	2681203	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0586702771865	.	.	2.485e-05	0	0	0	0	4.536e-05	0	0	2.59e-05	4	154602	rs762968402	2.189e-05	2.257e-05	2.451e-05	1.926e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	2.237e-05	0	0	1.881e-05	0.0003	2.068e-05	4.968e-05	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.383e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.288e-05	0	0	0.0003	0	0	0	0	0	0	0.0002	0.043	0.47745	D	0.002	0.92824	D	0.019	0.35858	B	0.009	0.24975	B	0.000005	0.62929	N	0.063724	0.999999	0.81001	D	1.355	0.33814	L	0.56	0.72348	T	-2.56	0.96317	D	0.38	0.46180	-0.8837	0.49464	T	0.158	0.49128	T	10	0.17390403	0.32241	T	0.05867	0.67400	D	0.145	0.38592	0.299	0.26522	0.406668915854	0.40277	0.507300658836585	0.50652	0.0675800255009	0.07553	0.497487306595	0.38478	T	0.075435	0.38867	T	-0.0502604	0.44407	T	-0.213118	0.53397	T	0.529666781425476	0.33722	D	0.910309	0.68205	D	0.21716122	0.44193	0.14218852	0.33836	0.21716122	0.44193	0.14218852	0.33835	-4.772	0.37622	T	.	.	0.114	0.46768	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.904806	0.56908	23.8	0.99736273679769594	0.83119	0.90282	0.51335	D	AEFDBI	0.418221	0.48595	N	-0.217303726725889	0.32423	1.828405	-0.17505766694276	0.32456	1.846724	0.999997931761496	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	2.62	0.30337	2.340000	0.43631	5.857000	0.50394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.384000	0.26424	0.0:0.7942:0.0:0.2058	8.769	0.33879	633	0.64743	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2054.33	34	chr16	89955219	.	C	T	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=784;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.564;SOR=0.868	GT:AD:DP:GQ:PL	0/1:64,78:142:99:2068,0,1594	18	0	1	0
chr17	1734181	1734181	G	C	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163673:exon7:c.G1535C:p.C512S,WDR81:NM_001163809:exon7:c.G5144C:p.C1715S,WDR81:NM_001163811:exon7:c.G1463C:p.C488S,WDR81:NM_152348:exon8:c.G1991C:p.C664S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.346044300793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.77e-06	2.736e-06	1.378e-06	4.176e-06	0.0003	6.5e-07	4.4e-07	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.662e-05	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.91255	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.875	0.21512	L	-2.78	0.90962	D	-8.91	0.98270	D	0.604	0.62188	0.729	0.93531	D	0.829	0.94270	D	9	0.7358939	0.74617	D	0.346044	0.92143	D	0.897	0.97097	.	.	0.824102862424	0.82243	0.7189641852024561	0.71839	0.788452715211	0.65643	0.72860622406	0.71302	T	0.219858	0.67794	T	0.451447	0.92545	D	0.410696	0.92453	D	0.985336005687714	0.76359	D	0.844516	0.52185	T	0.9551182	0.96785	0.93238395	0.97258	0.9551182	0.96786	0.93238395	0.97258	-5.032	0.44207	T	.	.	0.379	0.64274	A	.;.;.;.;.	.;.;.;.;.	4.885672	0.80171	27.3	0.99553564946860484	0.71273	0.95241	0.63962	D	AEFBHCI	0.969259	0.99167	D	0.716365464704173	0.80705	7.35384	0.713372996002185	0.83392	8.010144	0.999999999999347	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	5.48	5.48	0.80675	7.946000	0.87231	11.881000	0.98835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	18.324	0.90187	683	0.59664	.;.;WD40-repeat-containing domain;.;WD40-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	1129.33	43	chr17	1734181	.	G	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.86;DP=870;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-1.258;SOR=0.954	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1143,0,1474	18	0	1	0
chr17	2057111	2057113	GGC	-	exonic	HIC1	.	nonframeshift deletion	HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del	.	0	205	21	0	0	21	0.0487239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0021	0	0	0	0	0.0026	0.05	0.0011	0.0002305	6	26028	rs769002012	0.0008	0.0062	0.0006	0.0010	0.0042	0.0008	0.0008	0.0037	0.0035	0.0005	0.0017	0.0013	0.0005	0.0020	0.0008	0.0006	0.0010	0.0042	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.412e-05	0	0.0003	0	0.0002	9.612e-05	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103576	0.115385	0.120370	0.074468	0.100000	0.097561	0.084615	0.137168	0.05263	155.79	36	chr17	2057110	.	GGGC	G	155.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.641;DP=666;ExcessHet=0.119;FS=1.976;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.641;SOR=0.293	GT:AD:DP:GQ:PL	0/1:12,2:14:48:48,0,498	17	0	2	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,92:96:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3398,288,0:4933876	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,92:96:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3398,288,0:4933876	1	11	5	2
chr17	6600447	6600447	G	C	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon13:c.C1124G:p.T375S,KIAA0753:NM_014804:exon13:c.C2021G:p.T674S	.	434	1082	2	0	4	6	0.000923361	.	.	.	4151833	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0265235485688	8.4e-05	.	5.805e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs368931554	3.013e-05	3.01e-05	2.862e-05	3.166e-05	0.0002	2.284e-05	2.034e-05	2.458e-05	2.146e-05	0	2.237e-05	0	0	0	0.0002	3.331e-05	8.287e-05	0	1.97e-05	1.969e-05	2.57e-05	1.343e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.101	0.30375	T	0.362	0.16865	T	0.055	0.22733	B	0.034	0.22546	B	0.006420	0.32054	N	0.348813	0.632299	0.30688	N	.	.	.	-1.96	0.85091	D	-0.71	0.20145	N	0.056	0.05162	-0.2011	0.77643	T	0.486	0.80410	T	10	0.11005294	0.20556	T	0.026524	0.49429	D	0.219	0.51417	0.514	0.61307	0.530060385853	0.52655	0.06692350931237287	0.06630	0.0702805270165	0.07872	0.341918975115	0.16726	T	0.009933	0.09012	T	-0.252182	0.13832	T	-0.402375	0.33108	T	0.0499610404083935	0.05494	T	0.477752	0.15541	T	0.067622714	0.14661	0.0837759	0.19224	0.067622714	0.14661	0.0837759	0.19224	-2.405	0.05164	T	.	.	0.101	0.18247	B	.;.	.;.	2.092827	0.26622	17.18	0.97486666773881703	0.34219	0.80395	0.40044	D	AEFBI	0.113650	0.22415	N	-0.183316206305598	0.33830	1.923761	-0.074987349629514	0.36427	2.119811	0.994925861066105	0.33865	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	2.11	0.26299	1.949000	0.39938	4.232000	0.42657	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.995000	0.73285	0.0:0.483:0.517:0.0	12.963	0.57868	824	0.40336	.;.	.	.	.	.	.	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	740.33	34	chr17	6600447	.	G	C	740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=684;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.625;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,30:67:99:754,0,890	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,72:178:99:.:.:950,0,1461:.	6	0	9	4
chr17	10524954	10524954	G	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon34:c.C4774A:p.L1592M,MYH2:NM_017534:exon34:c.C4774A:p.L1592M	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	0	1487	32	3	0	38	0.0126162	.	.	.	256025	not_provided|Myopathy,_proximal,_and_ophthalmoplegia|not_specified	MedGen:C3661900|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.148	.	0.0009	0.00219649	0.0031	0.0005	0.0010	0.0003	0.0008	0.0010	0.0044	0.0172	0.0002393	37	154602	rs138393827	0.0018	0.0018	0.0013	0.0022	0.0164	0.0017	0.0017	0.0157	0.0154	0.0004	0.0007	0.0006	0.0006	0.0007	0.0045	0.0008	0.0020	0.0164	0.0011	0.0011	0.0010	0.0012	0.0120	0.0009	0.0009	0.0096	0.0087	0.0004	0	0.0009	0.0006	0.0006	0.0003	0	0.0010	0.0014	0.0120	0.091	0.31834	T	0.224	0.25591	T	0.015	0.17086	B	0.123	0.32463	B	0.118968	0.19093	N	0.272577	1	0.81001	D	1.92	0.51302	L	-1.22	0.78752	T	-0.73	0.20576	N	0.217	0.24260	-0.6386	0.63205	T	0.333	0.70051	T	10	0.009239972	0.00209	T	.	.	.	0.148	0.39182	.	.	0.524166996187	0.52061	0.13048176339087816	0.12973	0.34671068729	0.36577	0.380961924791	0.22393	T	0.321681	0.69275	T	-0.420978	0.01686	T	-0.364509	0.37529	T	0.00270645215745756	0.00028	T	0.525947	0.17303	T	0.095729694	0.22535	0.060628902	0.11577	0.09626438	0.22671	0.07062985	0.15028	-6.408	0.49572	T	0.1937811033623132	0.25510	0.080	0.08368	B	.;.	.;.	1.828592	0.23235	15.94	0.95352617738502965	0.26740	0.60875	0.31321	D	AEFBI	0.109154	0.21691	N	-0.770774773042775	0.14075	0.6982729	-0.702523042184392	0.16898	0.8960642	1.57835060714899E-5	0.02871	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.55	1.27	0.20595	-0.436000	0.06992	-0.396000	0.09442	-0.825000	0.02924	0.087000	0.22510	0.000000	0.08366	0.968000	0.53726	0.119:0.0:0.4051:0.4759	8.002	0.29460	444	0.79803	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	7443.83	33	chr17	10524954	.	G	T	7443.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.892;DP=1182;ExcessHet=0.119;FS=4.955;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.62;MQRankSum=-13.57;QD=13.76;ReadPosRankSum=2.05;SOR=0.646	GT:AD:DP:GQ:PL	0/1:143,148:291:99:4278,0,3886	17	0	2	0
chr17	11640279	11640279	C	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon10:c.C1796T:p.P599L	.	419	1100	3	0	0	3	0.00136178	.	.	.	703954	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.00857040635011	0.0020	0.000599042	0.0023	0.0005	0.0016	0	0.0029	0.0032	0.0044	0.0009	0.0021086	326	154602	rs141077864	0.0028	0.0028	0.0027	0.0028	0.0030	0.0027	0.0027	0.0029	0.0028	0.0002	0.0013	0.0118	0	0.0022	0.0005	0.0030	0.0031	0.0006	0.0021	0.0021	0.0022	0.0020	0.0029	0.0019	0.0018	0.0026	0.0024	0.0007	0	0.0007	0.0107	0.0002	0.0033	0	0.0029	0.0033	0.0010	0.51	0.07497	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	0.065500	0.02190	N	1.894900	1	0.08975	N	1.735	0.44892	L	0.34	0.58176	T	-3.86	0.76980	D	0.133	0.17278	-1.0439	0.16148	T	0.148	0.47451	T	10	0.0076003075	0.00173	T	0.00857	0.22655	T	0.085	0.24743	.	.	0.33085137897	0.32697	0.28232489379158526	0.28145	0.0940302031534	0.10614	0.245362341404	0.03295	T	0.100659	0.40667	T	-0.510696	0.00497	T	-0.509721	0.21343	T	0.00342962515758792	0.00036	T	0.176682	0.01716	T	0.06900966	0.15082	0.08997915	0.21074	0.06916768	0.15130	0.09102219	0.21376	-6.499	0.50278	T	.	.	0.076	0.05756	B	.;.	.;.	0.696665	0.10651	7.352	0.69514839902354653	0.08997	0.04378	0.09955	N	AEFBI	0.045539	0.07460	N	-1.00352865972454	0.08530	0.4003043	-1.04072523465022	0.08901	0.4399907	1.70846250250355E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	0.534	0.16320	0.279000	0.18532	-0.314000	0.10017	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2437:0.6075:0.0:0.1488	7.069	0.24346	784	0.47045	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1370.33	44	chr17	11640279	.	C	T	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.873;SOR=0.684	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1384,0,1419	18	0	1	0
chr17	18155154	18155154	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon45:c.G8269A:p.V2757M	Deafness, autosomal recessive 3, Autosomal recessive	0	1482	37	3	0	43	0.0143	.	.	.	176616	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.276	0.258361269117	0.0014	0.00219649	0.0023	0.0004	0.0028	0.0001	0.0005	0.0021	0.0046	0.0058	0.0022186	343	154602	rs140140417	0.0019	0.0019	0.0017	0.0021	0.0147	0.0018	0.0018	0.0122	0.0113	0.0005	0.0024	0.0061	2.519e-05	0.0002	0.0147	0.0016	0.0030	0.0053	0.0016	0.0016	0.0016	0.0015	0.0043	0.0014	0.0014	0.0029	0.0024	0.0004	0	0.0025	0.0046	0.0006	0.0007	0.0136	0.0018	0.0057	0.0043	0.048	0.40068	D	0.134	0.52389	T	0.149	0.27956	B	0.01	0.14941	B	.	.	.	.	0.763895	0.29510	N	1.47	0.36993	L	-2.73	0.90679	D	-2.18	0.49187	N	0.275	0.31140	-0.1236	0.79550	T	0.531	0.82612	D	9	0.0064539015	0.00146	T	0.258361	0.89405	D	0.276	0.59253	.	.	0.600825740518	0.59764	0.4457462142118012	0.44492	.	.	0.419347465038	0.27747	T	0.046696	0.65209	T	-0.342059	0.05246	T	-0.26234	0.48590	T	0.00478396346384637	0.00051	T	0.716728	0.33194	T	0.07735013	0.17550	0.13745384	0.32854	0.06249197	0.13057	0.119086966	0.28744	-6.928	0.53507	T	0.41057589769316	0.50096	0.088	0.11893	B	.;.;.;.;.	.;.;.;.;.	2.035020	0.25866	16.92	0.83213195503592097	0.14603	0.66823	0.33213	D	AEFBI	0.174771	0.30192	N	-0.460585179935102	0.23382	1.255274	-0.505606052839797	0.22000	1.192848	0.996699927236294	0.34934	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	-0.241	0.12399	1.130000	0.31007	1.255000	0.25194	0.676000	0.76740	0.834000	0.30193	0.645000	0.25934	0.690000	0.33838	0.2809:0.0:0.5946:0.1245	6.741	0.22626	163	0.93656	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.045455	0.017663	0.017544	0.000000	0.000000	0.009146	0.011364	0.02632	1591.33	39	chr17	18155154	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.778;SOR=0.726	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1605,0,1987	18	0	1	0
chr17	19681366	19681368	CCT	-	exonic	SLC47A2	.	frameshift deletion	SLC47A2:NM_001099646:exon15:c.1391_1392del:p.E464Gfs*2,SLC47A2:NM_152908:exon15:c.1499_1500del:p.E500Gfs*2,SLC47A2:NM_001256663:exon16:c.1433_1434del:p.E478Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.071e-06	2.052e-06	2.741e-06	1.391e-06	0.0004	5.5e-07	1.5e-07	6.169e-05	2.55e-05	0	0	0	0	0	0.0004	0	0	1.187e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1139.29	39	chr17	19681365	.	ACCT	A	1139.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=760;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.092;SOR=0.917	GT:AD:DP:GQ:PL	0/1:48,31:79:99:1153,0,1914	18	0	1	0
chr17	20450108	20450108	C	G	exonic	LGALS9B	.	nonsynonymous SNV	LGALS9B:NM_001042685:exon11:c.G933C:p.L311F,LGALS9B:NM_001367292:exon11:c.G936C:p.L312F	.	584	920	11	7	0	25	0.0134048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	.	.	0.0086	0	0.0057	0	0	0.0093	0.0122	0.0234	0.0006147	16	26028	rs200390718	0.0065	0.0096	0.0063	0.0068	0.0189	0.0064	0.0063	0.0149	0.0134	0.0026	0.0071	0.0384	0.0007	0.0016	0.0189	0.0056	0.0092	0.0113	0.0034	0.0040	0.0034	0.0034	0.0095	0.0031	0.0030	0.0071	0.0063	0.0006	0	0.0018	0.0469	0	0.0001	0.0227	0.0034	0.0059	0.0095	.	.	.	0.247	0.23914	T	0.946	0.53363	P	0.538	0.48781	P	0.543193	0.05326	N	1.239310	0.999748	0.20516	N	2.125	0.59049	M	2.62	0.12988	T	.	.	.	0.112	0.10626	-1.0102	0.26854	T	0.096	0.36159	T	9	0.004126996	0.00081	T	.	.	.	0.106	0.30130	0.644	0.78117	0.0138822411134	0.00435	0.23683732164066013	0.23598	.	.	0.381931364536	0.22531	T	0.007107	0.06527	T	-0.309523	0.07790	T	-0.682385	0.06839	T	0.00844175138586903	0.00102	T	0.839416	0.51368	T	0.081202045	0.18646	0.07373707	0.16057	0.081202045	0.18645	0.07373707	0.16056	-9.659	0.72948	D	.	.	0.179	0.39012	B	.;.	.;.	1.387174	0.17995	13.49	0.99295684956269614	0.58433	0.00660	0.02859	N	AEFGI	0.027037	0.02138	N	-0.754922060876896	0.14500	0.7228018	-0.898988418607878	0.12117	0.6214781	4.73456065613091E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	1.91	0.379	0.15440	-0.402000	0.07284	-1.313000	0.05742	0.272000	0.18543	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.0:0.4423:0.0:0.5577	4.360	0.10632	814	0.42100	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	0.008475	0.024390	0.007508	0.000000	0.000000	0.009259	0.018182	0.000000	0.05263	471.22	23	chr17	20450108	.	C	G	471.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=360;ExcessHet=0.119;FS=1.422;InbreedingCoeff=-0.0675;MLEAC=2;MLEAF=0.053;MQ=28.9;MQRankSum=-0.119;QD=11.78;ReadPosRankSum=1.03;SOR=1.085	GT:AD:DP:GQ:PL	0/1:13,8:21:99:200,0,374	17	0	2	0
chr17	35101266	35101266	T	C	exonic	RAD51D	.	nonsynonymous SNV	RAD51D:NM_133629:exon6:c.A502G:p.T168A,RAD51D:NM_001142571:exon9:c.A898G:p.T300A,RAD51D:NM_002878:exon9:c.A838G:p.T280A	.	.	.	.	.	.	.	.	.	.	.	3908951	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00938743494728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.03307	T	0.779	0.04507	T	0.001	0.07471	B	0.002	0.06944	B	0.188383	0.03232	N	1.514770	1	0.08975	N	-0.755	0.01709	N	-0.16	0.65378	T	-0.55	0.16799	N	0.149	0.17691	-1.0006	0.29746	T	0.099	0.37009	T	10	0.046515435	0.03852	T	0.009387	0.24623	T	0.064	0.18567	0.489	0.57415	0.0611884634855	0.05136	0.21542534607917854	0.21458	0.363349540725	0.37963	.	.	.	0.10243	0.41014	T	-0.267241	0.12067	T	-0.62165	0.11056	T	0.0352107882499695	0.02844	T	0.243176	0.08871	T	0.018880801	0.00411	0.02026034	0.00127	0.018880801	0.00411	0.02026034	0.00127	-5.054	0.37420	T	0.10876204096161513	0.09004	0.064	0.02733	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.384704	0.02271	0.235	0.55775593273788027	0.05412	0.02326	0.06662	N	AEFBI	0.040625	0.06068	N	-1.41875428976061	0.02474	0.1093085	-1.4291746134649	0.02964	0.1373737	0.00944851161376454	0.11855	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	-3.17	0.04882	-0.920000	0.04121	-3.460000	0.02770	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.5727:0.2697:0.1575	9.105	0.35855	912	0.21483	.;.;.;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	.	.	.	.	.	Likely benign	0	0	0	0	0	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	684.33	34	chr17	35101266	.	T	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=712;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.875;SOR=0.547	GT:AD:DP:GQ:PL	0/1:49,32:81:99:698,0,1282	18	0	1	0
chr17	35773240	35773240	G	A	exonic	MMP28	.	nonsynonymous SNV	MMP28:NM_024302:exon4:c.C544T:p.R182W,MMP28:NM_032950:exon4:c.C544T:p.R182W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	.	.	.	3.334e-05	0	0	0.0001	0	3.029e-05	0.0011	0	2.59e-05	4	154602	rs762370811	6.157e-06	6.156e-06	5.446e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.543e-05	0	0	0	0	0	0	0	.	.	.	0.03	0.67890	D	1.0	0.90584	D	0.987	0.77487	D	0.000006	0.62929	D	0.110598	.	.	.	3.105	0.87672	M	1.96	0.22270	T	.	.	.	0.853	0.86404	0.297	0.87508	D	0.557	0.83845	D	9	0.88603276	0.87931	D	.	.	.	.	.	.	.	0.630552110153	0.62753	0.8072031351247227	0.80675	.	.	0.837971687317	0.87784	D	0.316725	0.68824	T	-0.124603	0.32374	T	-0.247632	0.50051	T	0.548374474048615	0.34416	D	.	.	.	0.5428541	0.69556	0.40552518	0.64951	0.5428541	0.69557	0.40552518	0.64951	-11.803	0.83878	D	.	.	0.378	0.58328	A	.;.	.;.	5.971244	0.94222	34	0.91441153770671246	0.20711	0.96163	0.67822	D	AEFDBI	0.047053	0.07882	N	0.831157055646566	0.88011	9.420701	0.753285848558652	0.86401	8.877749	0.999999303010503	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.056198	0.00348	3	0.586402	0.36253	0	.	.	4.85	4.85	0.62375	6.407000	0.73202	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.949	0.86110	435	0.80441	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	.	.	.	.	.	.	.	.	0.02632	1212.33	34	chr17	35773240	.	G	A	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.329;DP=717;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.473;SOR=0.478	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1226,0,1044	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	0/1:44,52:96:99:494,0,376	1	0	18	0
chr17	40363680	40363697	CGAACACGGCGCCGCCCA	-	exonic	GJD3	.	nonframeshift deletion	GJD3:NM_152219:exon1:c.119_136del:p.V40_F45del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.161e-05	0	0	0	0	0	0	7.817e-05	3.84e-05	1	26028	rs760455563	8.919e-06	8.893e-06	8.191e-06	9.654e-06	0.0003	4.98e-06	3.84e-06	6.272e-05	4.776e-05	0	0	0	0	0	0.0003	0	1.659e-05	0.0001	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2297.29	40	chr17	40363679	.	TCGAACACGGCGCCGCCCA	T	2297.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.722;DP=819;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.841;SOR=0.716	GT:AD:DP:GQ:PL	0/1:86,62:148:99:2311,0,3371	18	0	1	0
chr17	40699579	40699579	G	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.C1226A:p.A409D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.116628057487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.042	0.50226	D	0.101	0.25775	B	0.062	0.26930	B	.	.	.	.	0.995719	0.23220	N	0.85	0.21244	L	-2.38	0.88298	D	-2.1	0.47852	N	0.154	0.15888	-0.3769	0.72748	T	0.535	0.82772	D	9	0.13341108	0.25391	T	0.116628	0.79617	D	0.082	0.23913	0.399	0.42753	0.143124449307	0.13826	0.34295735388801607	0.34208	0.166981265206	0.18835	0.242681488395	0.03036	T	0.176018	0.52581	T	-0.0798587	0.39738	T	-0.352488	0.38921	T	0.128400114833634	0.15233	T	0.357364	0.08134	T	0.28330874	0.51364	0.23591535	0.48849	0.28330874	0.51364	0.23591535	0.48848	-6.175	0.47720	T	.	.	0.129	0.27702	B	.	.	1.756330	0.22343	15.58	0.95069961638529399	0.26109	0.17888	0.20030	N	AEFDBHCI	0.068494	0.13515	N	-0.864874617415417	0.11685	0.5653068	-0.874217768727312	0.12707	0.6551893	0.972366661571838	0.29365	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	1.07	0.19399	-0.182000	0.09720	0.155000	0.15338	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.0:0.3369:0.5244:0.1387	9.334	0.37198	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2185.33	39	chr17	40699579	.	G	T	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=848;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=2.52;SOR=0.758	GT:AD:DP:GQ:PL	0/1:55,82:137:99:2199,0,1315	18	0	1	0
chr17	40771226	40771226	G	A	exonic	KRT26	.	nonsynonymous SNV	KRT26:NM_181539:exon2:c.C452T:p.A151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0228928454575	0.0025	0.00179712	0.0007	0.0072	9.239e-05	0	0	5.106e-05	0	0	0.0005369	83	154602	rs116825164	0.0002	0.0002	0.0002	0.0002	0.0076	0.0002	0.0002	0.0069	0.0066	0.0076	0.0001	0	0	3.759e-05	0.0002	1.916e-05	0.0003	3.56e-05	0.0022	0.0022	0.0024	0.0020	0.0076	0.0020	0.0019	0.0069	0.0066	0.0076	0	0.0007	0	0	0	0	7.351e-05	0.0009	0	0.122	0.27663	T	0.047	0.48855	D	0.061	0.23190	B	0.027	0.21085	B	0.660870	0.05979	N	1.191180	1	0.08975	N	0.93	0.23535	L	-2.44	0.88767	D	-2.1	0.47852	N	0.072	0.04547	-0.4639	0.69937	T	0.510	0.81589	D	10	0.011046588	0.00243	T	0.022893	0.45816	T	0.169	0.43123	.	.	0.115124310173	0.11017	0.046389588679306294	0.04582	0.0363285352544	0.03840	0.204920351505	0.00614	T	0.316731	0.68825	T	-0.481105	0.00728	T	-0.459705	0.26631	T	0.00429958839684007	0.00046	T	0.241376	0.03476	T	0.04829863	0.08396	0.055358283	0.09697	0.04829863	0.08396	0.055358283	0.09697	-6.101	0.47117	T	.	.	0.089	0.12276	B	.	.	-0.192310	0.03131	0.502	0.92187953741703554	0.21555	0.06372	0.12373	N	AEFBI	0.039288	0.05685	N	-0.908495401348524	0.10642	0.5095467	-0.955988876943237	0.10785	0.5454034	1.62849412198069E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.61	0.22752	-0.067000	0.11538	-1.250000	0.05908	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5372:0.0:0.4628:0.0	7.780	0.28223	63	0.97314	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002018	0.000000	0.004076	0.000000	0.000000	0.008621	0.003086	0.000000	0.02632	180.33	34	chr17	40771226	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=588;ExcessHet=0;FS=1.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=0.183;SOR=1.099	GT:AD:DP:GQ:PL	0/1:26,8:34:99:194,0,603	18	0	1	0
chr17	41105840	41105840	G	A	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.G452A:p.R151H,LOC100996750:NM_001365252:exon2:c.G437A:p.R146H	.	406	1085	31	0	0	31	0.0140845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00611340246952	.	0.000998403	0.0006	0.0053	0.0002	0.0010	0	5.124e-05	0	0.0009	0.000401	62	154602	rs538241229	0.0004	0.0007	0.0003	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	0.0071	0.0005	3.85e-05	0.0014	0	0.0004	6.86e-05	0.0006	0.0010	0.0024	0.0058	0.0025	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0007	0.0003	0.0008	0	0	0.0001	0	0.0011	0.099	0.30656	T	0.089	0.40426	T	0.003	0.11197	B	0.001	0.04355	B	0.586011	0.05564	N	1.407670	1	0.08975	N	1.945	0.52268	M	6.27	0.00562	T	-2.83	0.59710	D	0.082	0.14054	-0.8668	0.50768	T	0.003	0.01092	T	10	0.006554723	0.00149	T	0.006113	0.15993	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.049534052917623625	0.04896	0.221867951472	0.24722	0.184167638421	0.00138	T	0.041834	0.25987	T	-0.672734	0.00053	T	-0.733562	0.04168	T	0.0181985586081498	0.00541	T	0.0573943	0.00475	T	0.04352815	0.06798	0.06497193	0.13102	0.04352815	0.06798	0.06497193	0.13101	-7.893	0.60339	D	.	.	0.102	0.18910	B	.;.	.;.	1.974451	0.25085	16.63	0.95294399281926812	0.26605	0.01576	0.05139	N	AEFGBI	0.031699	0.03440	N	-0.750597956960849	0.14617	0.7296202	-0.844697173013674	0.13414	0.6957837	3.92456541770032E-4	0.06820	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.18	1.09	0.19517	-0.814000	0.04593	-1.350000	0.05649	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.25:0.2029:0.5471:0.0	3.801	0.08276	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	36	chr17	41105840	.	G	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.34;DP=1210;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.05;MQRankSum=-6.047;QD=0.18;ReadPosRankSum=1.5;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,14:193:49:0|1:41105831_A_C:49,0,7350:41105831	18	0	1	0
chr17	41238106	41238106	T	G	exonic	KRTAP9-8	.	nonsynonymous SNV	KRTAP9-8:NM_031963:exon1:c.T55G:p.W19G	.	.	.	.	.	.	.	.	.	.	.	2345615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00838333134825	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs750597696	8.227e-05	8.214e-05	5.458e-05	0.0001	0.0015	7.017e-05	6.567e-05	0.0007	0.0005	9.51e-05	4.474e-05	0.0010	0	0	0.0015	5.576e-05	0.0001	0.0001	8.065e-05	7.983e-05	6.574e-05	9.623e-05	8.822e-05	4.592e-05	3.588e-05	3.763e-05	2.575e-05	0	0	0	0.0012	0	0	0.0068	8.822e-05	0	0	0.158	0.23905	T	0.065	0.44702	T	0.024	0.19075	B	0.036	0.22909	B	.	.	.	.	0.985184	0.24733	N	1.845	0.48678	L	5.03	0.01287	T	-5.14	0.83292	D	0.412	0.45237	-0.9113	0.46694	T	0.004	0.01192	T	9	0.04024905	0.02578	T	0.008383	0.22181	T	0.045	0.12272	.	.	0.0401082797425	0.02173	0.11215841052296523	0.11144	0.376893372235	0.39126	0.227066263556	0.01758	T	0.046074	0.27314	T	-0.390381	0.02675	T	-0.561863	0.16202	T	0.0904401805177268	0.11270	T	0.267973	0.04452	T	0.28445032	0.51472	0.37560046	0.62701	0.28445032	0.51472	0.37560046	0.62700	-8.053	0.61431	D	.	.	0.206	0.43227	B	.	.	1.744439	0.22197	15.52	0.91503556622030535	0.20777	0.21663	0.21481	N	AEFI	0.040839	0.06131	N	-0.617094851084336	0.18429	0.9568121	-0.513431257512295	0.21788	1.180326	2.61713016571392E-4	0.06244	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.79	2.79	0.31792	0.436000	0.21244	0.739000	0.21146	0.509000	0.23192	0.051000	0.21449	0.667000	0.26046	0.310000	0.24737	0.0:0.0:0.0:1.0	9.373	0.37430	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4139.33	33	chr17	41238106	.	T	G	4139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.579;DP=1013;ExcessHet=0;FS=0.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=-0.379;QD=12.82;ReadPosRankSum=1.05;SOR=0.719	GT:AD:DP:GQ:PL	0/1:157,166:323:99:4153,0,4159	18	0	1	0
chr17	41571970	41571970	G	A	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.C23T:p.S8L	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2286636	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0336397173216	.	.	2.758e-05	0	0.0004	0	0	0	0	0	6.5e-06	1	154602	rs759755813	6.98e-05	6.977e-05	7.61e-05	6.339e-05	0.0003	5.83e-05	5.435e-05	0.0001	0.0001	0	0.0003	3.916e-05	7.74e-05	0	0	7.733e-05	0	0	3.286e-05	3.283e-05	2.57e-05	4.036e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	0.007	0.14184	B	0.003	0.08700	B	0.013321	0.28882	N	0.000000	1	0.08975	N	1.585	0.39878	L	-1.49	0.81235	T	-1.77	0.41809	N	0.209	0.23253	-0.7878	0.55857	T	0.275	0.64629	T	10	0.091504455	0.16035	T	0.03364	0.55122	D	0.290	0.60924	0.344	0.33788	0.73944703742	0.73710	0.23529997843731423	0.23444	0.063627187858	0.07085	0.452140629292	0.32236	T	0.434648	0.78166	T	-0.199497	0.20877	T	-0.239627	0.50836	T	0.198538959026337	0.20335	T	0.387161	0.09535	T	0.11841356	0.27899	0.11288319	0.27239	0.11841356	0.27899	0.11288319	0.27238	-10.825	0.78689	D	.	.	0.250	0.48438	B	.	.	1.522310	0.19545	14.32	0.78659287163530311	0.12396	0.08204	0.14162	N	AEFDBHCI	0.050316	0.08782	N	-1.04095739907982	0.07766	0.3618773	-1.08997966482299	0.07897	0.3859851	1.64633466257169E-4	0.05721	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.79	-2.42	0.06164	0.134000	0.15755	0.066000	0.14196	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4652:0.0:0.403:0.1318	5.503	0.16129	276	0.89131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	811.33	72	chr17	41571970	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.743;DP=924;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.254;SOR=1.13	GT:AD:DP:GQ:PL	0/1:31,31:62:99:825,0,795	18	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 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	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.02632	1309.33	98	chr17	43013785	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=1165;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.035;SOR=0.713	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1323,0,1304	18	0	1	0
chr17	47440574	47440574	A	G	exonic	EFCAB13	.	nonsynonymous SNV	EFCAB13:NM_152347:exon25:c.A2782G:p.I928V	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00265870725607	.	0.000798722	0.0005	0	0	0	0	3.003e-05	0	0.0032	0.0003816	59	154602	rs572699475	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.239e-05	0	0	0	0.0009	2.609e-05	0.0002	0.0027	0.0001	0.0001	3.854e-05	0.0003	0.0033	9.738e-05	8.253e-05	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	5.882e-05	0.0005	0.0033	0.0	0.91255	D	0.752	0.04772	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.23	0.59717	T	-0.09	0.08340	N	0.053	0.02462	-1.0227	0.22834	T	0.081	0.32060	T	9	0.004668176	0.00098	T	0.002659	0.05434	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.012312227469506592	0.01190	0.122689276914	0.13825	0.456499218941	0.32832	T	6.76E-4	0.00299	T	-0.617069	0.00115	T	-0.663769	0.08013	T	0.012847552251289	0.00219	T	0.369163	0.08660	T	0.12406702	0.29119	0.1485945	0.35119	0.12406702	0.29119	0.1485945	0.35118	-3.978	0.23473	T	.	.	0.099	0.16843	B	.	.	-0.230063	0.02942	0.431	0.63505015083894512	0.07241	0.00909	0.03552	N	AEFGBI	0.021980	0.01043	N	-1.06075168785526	0.07378	0.3425639	-1.08473100410294	0.08000	0.3914915	3.90584394840453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.69	0.573	0.16547	-0.421000	0.07118	-0.845000	0.07201	0.407000	0.20612	0.002000	0.15269	0.000000	0.08366	0.439000	0.27649	0.7704:0.0:0.2296:0.0	3.409	0.06924	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2076.33	35	chr17	47440574	.	A	G	2076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=758;ExcessHet=0;FS=3.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.911;SOR=0.889	GT:AD:DP:GQ:PL	0/1:56,79:135:99:2090,0,1223	18	0	1	0
chr17	49142117	49142117	G	A	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon3:c.G298A:p.D100N,B4GALNT2:NM_001159388:exon3:c.G220A:p.D74N,B4GALNT2:NM_153446:exon3:c.G478A:p.D160N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00911175930291	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764997159	1.026e-05	1.026e-05	1.089e-05	9.625e-06	2.519e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	0	0	1.169e-05	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.63226	D	0.317	0.41074	T	0.907	0.58310	P	0.313	0.47925	B	0.212708	0.16326	N	0.578312	0.98186	0.25008	N	2.375	0.68372	M	1.43	0.32958	T	-2.1	0.47852	N	0.341	0.38438	-1.0790	0.07543	T	0.059	0.24871	T	10	0.2503023	0.42354	T	0.009112	0.23965	T	0.055	0.15663	0.314	0.28935	0.642214447545	0.63926	0.5289889502045728	0.52822	0.549580526325	0.51857	0.374504476786	0.21476	T	0.123101	0.44724	T	-0.20049	0.20734	T	-0.525767	0.19711	T	0.897660255432129	0.54960	D	0.814119	0.46793	T	0.07052155	0.15541	0.07755017	0.17287	0.07052155	0.15541	0.07755017	0.17286	-3.662	0.20000	T	.	.	0.097	0.25100	B	.;.;.	.;.;.	3.184594	0.43240	21.7	0.9979913223624155	0.88372	0.67094	0.33308	D	AEFDBI	0.174400	0.30153	N	-0.0169887660437002	0.41088	2.451388	-0.0337487926016838	0.38200	2.247307	1.25788478085327E-4	0.05386	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.7	3.67	0.41236	2.935000	0.48657	8.079000	0.76473	0.676000	0.76740	0.940000	0.32642	1.000000	0.68203	0.469000	0.28319	0.0887:0.168:0.7432:0.0	7.500	0.26683	350	0.85473	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1297.33	36	chr17	49142117	.	G	A	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=734;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.411;SOR=0.935	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1311,0,1113	18	0	1	0
chr17	50603132	50603132	G	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256332:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198376:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198379:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198382:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198383:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198387:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198388:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198396:exon20:c.G4033A:p.D1345N,CACNA1G:NM_001256324:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256325:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256326:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256327:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256328:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256329:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256330:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256331:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256333:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256334:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256359:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256360:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256361:exon21:c.G4102A:p.D1368N,CACNA1G:NM_018896:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198377:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198378:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198380:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198384:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198385:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198386:exon21:c.G4102A:p.D1368N	Spinocerebellar ataxia 42, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.141867744395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413954832	3.423e-06	4.104e-06	0	6.881e-06	0.0007	1e-06	7.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.15047	T	0.621	0.10607	T	0.021	0.46518	B	0.021	0.50264	B	0.000000	0.84330	D	0.051382	0.999737	0.48635	D	-0.345	0.03330	N	-4.91	0.98352	D	-1.06	0.36980	N	0.229	0.36359	0.942	0.96271	D	0.900	0.96682	D	10	0.3096159	0.48447	T	0.141868	0.82427	D	0.439	0.74306	0.467	0.53891	0.749942049415	0.74768	0.615488866352744	0.61480	1.26890067579	0.82231	0.669167041779	0.62720	T	0.013114	0.81308	T	0.0249441	0.55046	T	-0.201946	0.54462	T	0.901067435741425	0.55372	D	0.945205	0.79148	D	0.27978843	0.51028	0.15997575	0.37283	0.27978843	0.51027	0.15997575	0.37283	-6.54	0.54092	T	0.12776263378134942	0.13134	0.090	0.29724	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.129770	0.61790	24.4	0.99328540878983218	0.59661	0.91370	0.53397	D	AEFDBI	0.599241	0.59234	D	-0.0459948928167617	0.39781	2.351574	0.110945628164241	0.45107	2.779859	0.985982097212616	0.30984	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.82	4.82	0.61641	3.304000	0.51572	8.452000	0.77222	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.904	0.88831	945	0.12563	.;.;.;.;Ion transport domain;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Ion transport domain;.;Ion transport 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	1570.33	33	chr17	50603132	.	G	A	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=710;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=1.3;SOR=0.574	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1584,0,1042	18	0	1	0
chr17	58487734	58487734	C	T	exonic	HSF5	.	nonsynonymous SNV	HSF5:NM_001080439:exon1:c.G541A:p.E181K	.	414	1107	1	0	0	1	0.000451467	.	.	.	3274273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0166187062439	.	0.000199681	6.504e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs576559569	8.641e-05	8.345e-05	9.063e-05	8.197e-05	0.0015	7.285e-05	6.791e-05	0.0006	0.0004	8.235e-05	8.138e-05	0	0	6.73e-05	0.0015	8.122e-05	0.0003	1.932e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.717e-05	0.0001	8.883e-05	0	0	0.0003	0	0	0	0.0103	0.0002	0.0009	0.0002	0.026	0.46910	D	0.244	0.24123	T	.	.	.	.	.	.	0.024576	0.01614	N	2.421080	0.970264	0.38786	D	.	.	.	1.47	0.31987	T	0.06	0.06253	N	0.266	0.30118	-0.9601	0.39162	T	0.040	0.17191	T	10	0.055048913	0.05957	T	0.016619	0.37963	T	0.083	0.24192	0.347	0.34274	0.220282294035	0.21616	0.49633873638034365	0.49554	1.62008735589	0.89050	0.818589687347	0.84812	D	.	.	.	-0.107123	0.35243	T	-0.391651	0.34357	T	0.0867632904098927	0.10830	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38227	B	.	.	3.099966	0.41772	21.4	0.98422581574705914	0.41298	0.52202	0.29075	D	ALL	0.110509	0.21911	N	-0.511473056305219	0.21708	1.154053	-0.499602961645879	0.22165	1.202569	0.99999999970663	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.596394	0.31383	0	0.554799	0.18163	0	.	.	3.91	3.91	0.44383	1.577000	0.36124	7.502000	0.59501	0.522000	0.23927	0.103000	0.22855	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	13.173	0.59031	307	0.87649	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004155	0.007937	0.000000	0.000000	0.003226	0.000000	0.02632	32.35	8	chr17	58487734	.	C	T	32.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=232;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.49;ReadPosRankSum=-1.189;SOR=1.508	GT:AD:DP:GQ:PL	0/1:11,2:13:46:46,0,305	18	0	1	0
chr17	61483092	61483092	C	G	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1214G:p.S405C,TBX4:NM_001321120:exon9:c.C1217G:p.S406C	Ischiocoxopodopatellar syndrome, Autosomal dominant	0	1503	16	3	0	22	0.00726552	.	.	.	346648	TBX4-related_disorder|not_provided|Coxopodopatellar_syndrome	.|MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0207397030279	0.0003	0.000998403	0.0008	0	0.0012	0	0.0002	0.0006	0.0011	0.0021	0.0007438	115	154602	rs140662248	0.0007	0.0007	0.0005	0.0008	0.0055	0.0006	0.0006	0.0040	0.0035	0.0005	0.0012	0.0045	0	0.0002	0.0055	0.0004	0.0013	0.0026	0.0006	0.0006	0.0007	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	0.0002	0	0.0014	0.0037	0	9.418e-05	0.0136	0.0005	0.0009	0.0029	0.003	0.68238	D	0.102	0.38450	T	0.875	0.48103	P	0.43	0.45392	B	0.001248	0.39669	N	0.261606	0.687369	0.33292	D	1.79	0.46772	L	0.92	0.44461	T	-1.91	0.44471	N	0.239	0.38232	-0.7850	0.56019	T	0.157	0.48858	T	9	0.007683784	0.00175	T	0.02074	0.43393	T	0.076	0.22200	.	.	0.79909207963	0.79722	0.2513201946464112	0.25046	1.0641732032	0.76574	0.618712127209	0.55546	T	0.204	0.56265	T	-0.496488	0.00598	T	-0.491185	0.23266	T	0.0455302304764379	0.04699	T	0.864413	0.56163	D	0.13419783	0.31188	0.18367727	0.41372	0.15932864	0.35795	0.12985265	0.31213	-4.812	0.35248	T	.	.	0.109	0.20702	B	.;.;.;.	.;.;.;.	4.639042	0.73833	26.1	0.99281848608955037	0.57938	0.78266	0.38588	D	AEFDGBCI	0.349945	0.44356	N	0.408531803901281	0.61889	4.396427	0.461972261745596	0.65488	4.830309	0.998728261075868	0.37539	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	2.302000	0.43298	7.645000	0.63394	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.412	0.90499	202	0.92131	.;.;.;.	.	.	.	.	.	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	0.015152	0.005435	0.011696	0.000000	0.000000	0.003049	0.003788	0.02632	2694.33	34	chr17	61483092	.	C	G	2694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=854;ExcessHet=0;FS=1.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.688;SOR=0.833	GT:AD:DP:GQ:PL	0/1:113,103:216:99:2708,0,2756	18	0	1	0
chr17	61968034	61968034	C	A	splicing	MED13	NM_005121:exon18:c.4191+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456739	0.92777	D	0.418298	0.92688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.387992	0.95128	34	0.99434305550024649	0.64423	0.99019	0.90044	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	.	.	.	.	.	.	.	.	0.1316	691.29	68	chr17	61968034	.	C	A	691.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:33,17:68:12:49,0,360	14	0	5	0
chr17	67912782	67912782	C	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.C4898T:p.T1633I,BPTF:NM_004459:exon13:c.C5276T:p.T1759I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0334941127918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.001	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	2.255	0.64187	M	-2.92	0.91748	D	-4.08	0.74742	D	0.524	0.57775	-0.0296	0.81639	T	0.486	0.80415	T	9	0.5545064	0.64441	D	0.033494	0.55023	D	0.378	0.69612	0.225	0.14960	0.711060249131	0.70853	0.37979973225253116	0.37894	1.11044362943	0.78041	0.729801058769	0.71477	T	0.509996	0.82657	D	0.181751	0.72205	D	0.0232963	0.71844	D	0.942528545856476	0.61679	D	0.924008	0.76101	D	0.27596837	0.50659	0.27944016	0.53912	0.27596837	0.50659	0.27944016	0.53911	-7.11	0.54832	T	.	.	0.655	0.76416	P	.;.;.;.;.;.	.;.;.;.;.;.	3.962216	0.58118	23.9	0.96786854028564873	0.31098	0.98376	0.82147	D	AEFDGBHCI	0.837429	0.75507	D	0.502692620267958	0.67247	5.056462	0.447188424697095	0.64537	4.711048	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.47	5.47	0.80345	7.840000	0.85068	4.926000	0.46086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:1.0:0.0:0.0	19.686	0.95976	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	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	1849.33	35	chr17	67912782	.	C	T	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=781;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.654;SOR=0.612	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1863,0,1795	18	0	1	0
chr17	74372572	74372572	C	T	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon4:c.C1097T:p.P366L,GPR142:NM_001331077:exon4:c.C1097T:p.P366L,GPR142:NM_181790:exon4:c.C1361T:p.P454L	.	431	1072	18	1	0	20	0.00924214	.	.	.	2808330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0173496799223	0.0037	0.00159744	0.0043	0.0018	0.0037	0.0001	0.0008	0.0064	0.0062	0.0017	0.0039456	610	154602	rs140397567	0.0050	0.0049	0.0049	0.0050	0.0057	0.0049	0.0048	0.0055	0.0055	0.0012	0.0045	0.0051	0.0001	0.0010	0.0042	0.0057	0.0054	0.0017	0.0040	0.0040	0.0043	0.0037	0.0057	0.0038	0.0037	0.0053	0.0051	0.0018	0.0307	0.0052	0.0058	0.0002	0.0005	0.0034	0.0057	0.0043	0.0014	0.396	0.10623	T	0.288	0.21144	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.6	0.40776	L	-0.26	0.67187	T	-0.53	0.16393	N	0.081	0.05670	-1.0246	0.22214	T	0.099	0.36957	T	9	0.0063492656	0.00143	T	0.01735	0.39013	T	0.041	0.10877	.	.	0.455909487837	0.45213	0.18651384417242733	0.18569	0.117002942572	0.13191	0.265333026648	0.05543	T	0.006776	0.06208	T	-0.565623	0.00235	T	-0.581529	0.14409	T	0.00308196130042475	0.00032	T	0.447055	0.12542	T	0.013799263	0.00070	0.031015558	0.01634	0.013799263	0.00070	0.031015558	0.01634	-3.986	0.23594	T	.	.	0.065	0.01934	B	.	.	-0.182750	0.03181	0.521	0.40642597587774743	0.02881	0.00903	0.03537	N	AEFBI	0.054018	0.09785	N	-1.35594138810062	0.03064	0.1362827	-1.40841692912964	0.03167	0.1472094	0.0371806132958303	0.14283	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	-2.64	0.05757	-0.539000	0.06202	-2.401000	0.03800	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3702:0.0:0.6298	9.998	0.41081	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	741.33	41	chr17	74372572	.	C	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=775;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=2.18;SOR=0.96	GT:AD:DP:GQ:PL	0/1:31,27:58:99:755,0,766	18	0	1	0
chr17	74930587	74930587	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.G952A:p.G318R	.	426	1014	80	2	0	84	0.0397727	.	.	.	704366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0056	0.00419329	0.0077	0.0014	0.0020	0.0003	0.0005	0.0069	0.0089	0.0259	0.0070633	1092	154602	rs141455683	0.0071	0.0071	0.0063	0.0078	0.0260	0.0070	0.0069	0.0250	0.0247	0.0012	0.0029	0.0123	0.0002	0.0008	0.0260	0.0063	0.0077	0.0259	0.0049	0.0049	0.0049	0.0049	0.0222	0.0046	0.0045	0.0188	0.0175	0.0014	0.0011	0.0030	0.0089	0.0006	0.0005	0.0136	0.0069	0.0066	0.0222	0.524	0.07163	T	0.502	0.11115	T	0.009	0.15093	B	0.008	0.13708	B	0.915206	0.07441	N	1.037460	1	0.08975	N	0.55	0.14455	N	2.0	0.21473	T	1.04	0.01332	N	0.071	0.04426	-0.9554	0.40024	T	0.014	0.05705	T	10	0.003012538	0.00049	T	.	.	.	0.013	0.01715	0.332	0.31843	0.0297737177859	0.01360	0.1529508724129356	0.15217	0.191530735651	0.21486	0.232459336519	0.02155	T	0.008023	0.07382	T	-0.673912	0.00052	T	-0.721208	0.04737	T	0.000571438700328689	0.00005	T	0.342266	0.07430	T	0.028871108	0.02291	0.052443184	0.08640	0.028871108	0.02290	0.052443184	0.08639	-3.992	0.23683	T	.	.	0.073	0.04889	B	.;.	.;.	0.111383	0.05106	1.639	0.49088204705005861	0.04150	0.07585	0.13596	N	AEFGBI	0.122439	0.23758	N	-1.4242460922757	0.02427	0.1071593	-1.40111998355244	0.03241	0.150791	0.719820147298435	0.22918	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.32	-1.72	0.07671	-0.361000	0.07664	-0.207000	0.10889	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4099:0.105:0.4851:0.0	7.43	0.26294	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015609	0.000000	0.005435	0.017544	0.000000	0.008621	0.030488	0.022727	0.05263	7055.83	310	chr17	74930587	.	G	A	7055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.18;DP=1306;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.72;SOR=0.755	GT:AD:DP:GQ:PL	0/1:103,116:219:99:3290,0,2436	17	0	2	0
chr17	74947158	74947158	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.G1249A:p.V417M,OTOP3:NM_178233:exon6:c.G1303A:p.V435M	.	427	1018	75	2	0	79	0.0373522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	0.0015	0.0061901	0.0060	0.0004	0.0020	0	0.0005	0.0021	0.0100	0.0331	0.0052134	806	154602	rs36036654	0.0029	0.0029	0.0020	0.0038	0.0305	0.0028	0.0028	0.0296	0.0292	0.0002	0.0019	0.0160	0.0002	0.0006	0.0175	0.0006	0.0045	0.0305	0.0020	0.0020	0.0013	0.0028	0.0306	0.0019	0.0018	0.0266	0.0251	0.0004	0	0.0017	0.0135	0.0004	0.0002	0.0102	0.0009	0.0024	0.0306	0.099	0.30656	T	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999656	0.48079	D	3.115	0.87836	M	1.8	0.25344	T	-0.87	0.23590	N	.	.	-0.7817	0.56206	T	0.167	0.50632	T	10	0.012928009	0.00276	T	.	.	.	0.325	0.64725	.	.	0.629528454764	0.62650	0.41167949801164166	0.41083	0.222252166983	0.24760	0.715541243553	0.69397	T	0.018344	0.14803	T	-0.331264	0.06016	T	-0.225617	0.52195	T	0.0528079158904391	0.05987	T	0.89491	0.63503	D	0.24908622	0.47901	0.29670504	0.55704	0.24908622	0.47901	0.29670504	0.55703	-7.699	0.59001	D	.	.	0.401	0.59628	A	.;.	.;.	4.544321	0.71454	25.7	0.9990039393200798	0.97199	0.96533	0.69615	D	AEFGBI	0.795704	0.72305	D	0.715737068723012	0.80662	7.344704	0.637523299539449	0.77683	6.727076	0.17361676551724	0.17771	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	6.905000	0.75535	8.674000	0.78019	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.524000	0.29567	0.0878:0.0:0.9122:0.0	10.906	0.46288	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	0.013595	0.005051	0.009511	0.023392	0.000000	0.008621	0.009146	0.007576	0.05263	3488.83	45	chr17	74947158	.	G	A	3488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=912;ExcessHet=0.119;FS=4.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.232;SOR=0.489	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1607,0,1475	17	0	2	0
chr17	75616380	75616380	-	AGGAGGAGG	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon37:c.6064_6065insAGGAGGAGG:p.E2033_Q2034insEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260648085	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	9.443e-05	0.0004	0.0003	0.0002	0.0007	0	0	0	0.0003	0.0001	7.523e-05	2.157e-05	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0001	0.0007	0.0006	0.0003	0	0.0011	0	0	0	0	7.431e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3155.45	39	chr17	75616380	.	C	CAGGAGGAGG	3155.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.214;SOR=0.735	GT:AD:DP:GQ:PL	0/1:39,22:61:99:754,0,1496	18	0	1	0
chr17	76278151	76278151	G	A	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon15:c.C4457T:p.A1486V	.	427	1094	1	0	0	1	0.00045683	.	.	.	3208566	QRICH2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0002	0.00319489	0.0010	0.0004	0.0002	0.0123	0	7.603e-05	0	6.079e-05	0.0009185	142	154602	rs76267026	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0002	0.0058	0.0055	0.0002	8.944e-05	0.0001	0.0064	0	0.0012	8.094e-05	0.0005	4.637e-05	0.0005	0.0005	0.0004	0.0005	0.0098	0.0004	0.0003	0.0077	0.0069	0.0001	0	6.531e-05	0.0003	0.0098	0	0	0.0001	0	0.0002	0.06	0.37326	T	0.076	0.42614	T	0.974	0.57829	D	0.301	0.41090	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	2.67	0.12473	T	-2.3	0.51157	N	0.201	0.22228	-0.9915	0.32218	T	0.060	0.25054	T	9	0.0044852495	0.00092	T	.	.	.	0.126	0.34673	.	.	0.0138822411134	0.00435	0.16588696905673345	0.16508	0.208528588573	0.23325	0.313671112061	0.12462	T	0.007437	0.06846	T	-0.56364	0.00241	T	-0.572018	0.15265	T	0.0452957054030525	0.04655	T	0.626037	0.24205	T	0.051063556	0.09321	0.07612426	0.16827	0.040450286	0.05774	0.086846896	0.20148	-5.52	0.42054	T	.	.	0.091	0.15654	B	.;.	.;.	1.074118	0.14567	11.13	0.92548196962953522	0.21996	0.02028	0.06083	N	AEFDBI	0.032002	0.03534	N	-0.7232188785817	0.15370	0.7740018	-0.838372512825137	0.13567	0.7045432	0.926095186104533	0.26839	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	5.44	-2.1	0.06809	-0.386000	0.07428	.	.	-1.059000	0.01621	0.000000	0.06391	0.053000	0.21875	0.754000	0.35928	0.1662:0.4122:0.2086:0.213	2.183	0.03642	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	680.33	38	chr17	76278151	.	G	A	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.658;DP=696;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.804;SOR=0.31	GT:AD:DP:GQ:PL	0/1:27,29:56:99:694,0,760	18	0	1	0
chr17	77209465	77209465	G	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon12:c.G1498T:p.A500S,SEC14L1:NM_001039573:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143998:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143999:exon14:c.G1600T:p.A534S,SEC14L1:NM_003003:exon14:c.G1600T:p.A534S,SEC14L1:NM_001204408:exon16:c.G1600T:p.A534S,SEC14L1:NM_001204410:exon16:c.G1600T:p.A534S	.	431	1066	25	0	0	25	0.0115902	.	.	.	715736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00139776	0.0047	0.0004	0.0011	0	0.0031	0.0054	0.0045	0.0100	0.0044243	684	154602	rs143320926	0.0042	0.0042	0.0040	0.0043	0.0106	0.0041	0.0040	0.0100	0.0098	0.0008	0.0010	0.0026	0	0.0039	0.0021	0.0041	0.0036	0.0106	0.0030	0.0030	0.0028	0.0032	0.0085	0.0028	0.0027	0.0064	0.0057	0.0007	0	0.0017	0.0023	0	0.0041	0	0.0045	0.0028	0.0085	0.561	0.06691	T	0.531	0.24621	T	0.036	0.20732	B	0.02	0.19048	B	0.000000	0.84330	D	0.049517	0.999973	0.53665	D	2.6	0.76081	M	1.09	0.39223	T	-0.49	0.15578	N	0.392	0.46368	-1.0772	0.07901	T	0.058	0.24167	T	10	0.008954972	0.00203	T	.	.	.	0.080	0.23350	.	.	0.49530441419	0.49164	0.36858062195665303	0.36772	0.539670562832	0.51191	0.556917905807	0.46832	T	0.02022	0.15960	T	-0.393963	0.02536	T	-0.330716	0.41388	T	0.0287421153837563	0.01798	T	0.790321	0.45571	T	0.15130615	0.34402	0.117334686	0.28325	0.15130615	0.34402	0.117334686	0.28324	-6.096	0.47076	T	.	.	0.073	0.15296	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.138675	0.42441	21.5	0.8701665812032916	0.16930	0.90976	0.52619	D	AEFDBHCI	0.779930	0.71198	D	-0.160721858344382	0.34779	1.989405	0.0170941891234989	0.40509	2.418674	0.999999992349364	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.196000	0.72018	9.788000	0.81631	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:0.8421:0.1579	13.318	0.59857	988	0.01987	.;GOLD domain;GOLD domain;GOLD domain;.;.;.;GOLD 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	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.015152	0.02632	958.33	34	chr17	77209465	.	G	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=733;ExcessHet=0;FS=6.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=2.82;SOR=0.297	GT:AD:DP:GQ:PL	0/1:52,40:92:99:972,0,1336	18	0	1	0
chr17	77402692	77402692	G	A	exonic	SEPTIN9	.	nonsynonymous SNV	SEPTIN9:NM_001113493:exon2:c.G689A:p.R230Q,SEPTIN9:NM_001113494:exon2:c.G218A:p.R73Q,SEPTIN9:NM_001293695:exon2:c.G653A:p.R218Q,SEPTIN9:NM_006640:exon2:c.G656A:p.R219Q,SEPTIN9:NM_001113491:exon3:c.G710A:p.R237Q,SEPTIN9:NM_001113492:exon3:c.G218A:p.R73Q	.	1	1511	10	0	0	10	0.00329815	.	.	.	340486	not_provided|SEPTIN9-related_disorder|Amyotrophic_neuralgia|Inborn_genetic_diseases|not_specified	MedGen:C3661900|.|MONDO:MONDO:0008076,MedGen:C1834304,OMIM:162100,Orphanet:2901|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.035546133329	0.0008	0.000599042	0.0008	0.0001	0.0007	0	0.0006	0.0013	0.0013	0	0.0008279	128	154602	rs200031107	0.0013	0.0013	0.0013	0.0012	0.0057	0.0012	0.0012	0.0040	0.0035	0.0005	0.0015	0.0016	0	0.0006	0.0057	0.0014	0.0015	3.583e-05	0.0010	0.0010	0.0011	0.0009	0.0016	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0011	0.0014	0	0.0007	0.0102	0.0016	0.0028	0	0.036	0.45393	D	0.306	0.31833	T	0.065	0.38591	B	0.002	0.31939	B	0.000021	0.00348	N	5.881310	0.999997	0.08975	N	1.735	0.44892	L	1.36	0.77078	T	-0.36	0.13035	N	0.16	0.23632	-0.9937	0.31643	T	0.137	0.45299	T	10	0.011054039	0.00243	T	0.035546	0.56416	D	0.048	0.13305	.	.	0.680950470211	0.67823	0.2124524413882051	0.21161	0.120561991571	0.13576	0.350172877312	0.17947	T	0.024915	0.18734	T	-0.388095	0.02767	T	-0.3758	0.36212	T	0.0164548280003138	0.00411	T	0.926107	0.82903	D	0.038886838	0.05266	0.05927286	0.11097	0.042825956	0.06566	0.05120064	0.08192	-3.315	0.15273	T	0.15105061548730467	0.17790	0.074	0.21125	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.408801	0.30961	18.60	0.9880223569944433	0.46477	0.26754	0.23083	N	AEFDBI	0.086241	0.17485	N	-0.45587986399927	0.23541	1.264915	-0.464506808123158	0.23139	1.260319	0.998380603135267	0.36869	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	1.17	0.19998	1.014000	0.29553	2.483000	0.32949	0.618000	0.50648	0.986000	0.36153	0.997000	0.33255	0.724000	0.34901	0.4476:0.0:0.5524:0.0	7.296	0.25564	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	0.008073	0.005051	0.013587	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1269.33	36	chr17	77402692	.	G	A	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.94;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.102;SOR=0.71	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1283,0,1377	18	0	1	0
chr17	78164134	78164134	A	G	exonic	C17orf99	.	nonsynonymous SNV	C17orf99:NM_001163075:exon4:c.A410G:p.D137G	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00863159596852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.317	0.19304	T	0.172	0.28767	B	0.048	0.24975	B	0.183686	0.17034	N	0.477238	1	0.08975	N	.	.	.	0.89	0.45636	T	-2.42	0.53096	N	0.088	0.06587	-1.0794	0.07465	T	0.050	0.21261	T	10	0.07614595	0.11858	T	0.008632	0.22804	T	0.030	0.07022	0.368	0.37687	0.0297737177859	0.01360	0.3730676105737638	0.37220	.	.	.	.	.	0.048597	0.28064	T	-0.280732	0.10589	T	-0.641028	0.09593	T	0.115266756512661	0.13961	T	0.441756	0.12241	T	0.10608687	0.25085	0.07947635	0.17896	0.10608687	0.25084	0.07947635	0.17895	-3.085	0.11125	T	.	.	0.122	0.28636	B	.;.	.;.	1.178809	0.15691	12.03	0.87681131900547815	0.17404	0.04187	0.09689	N	AEFDBCI	0.129816	0.24813	N	-0.762314895505424	0.14301	0.7112538	-0.73125309661692	0.16183	0.8549351	0.99082051693823	0.32281	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.53	3.21	0.35933	0.707000	0.25379	1.629000	0.27729	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.510000	0.29244	0.8149:0.0:0.1851:0.0	4.588	0.11689	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	34	chr17	78164134	.	A	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.136;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.66;SOR=0.662	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1174,0,1235	18	0	1	0
chr17	78451519	78451519	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon66:c.C10684T:p.L3562F	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0342041138146	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs772270560	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0.0005	8.995e-07	3.313e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	1.34	0.34841	T	.	.	.	0.762	0.76481	0.072	0.83659	D	0.355	0.71766	T	10	0.7836381	0.78062	D	0.034204	0.55518	D	0.434	0.73951	.	.	0.304108284078	0.30024	0.8412484373662918	0.84084	.	.	0.80820775032	0.83218	D	.	.	.	-0.165106	0.25977	T	-0.20064	0.54585	T	0.984633207321167	0.75878	D	0.941406	0.78138	D	0.26197255	0.49257	0.25887418	0.51626	0.26197255	0.49256	0.25887418	0.51625	-12.4	0.86745	D	0.7950933963943959	0.87291	0.890	0.82098	P	.;.	.;.	4.612287	0.73149	25.9	0.99828440159395559	0.91026	0.98019	0.78921	D	AEFDGBI	0.935189	0.92967	D	0.967891929472064	0.94667	12.94143	0.87291634822986	0.94281	12.640	0.999999999999903	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.970000	0.87602	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.739	0.91730	895	0.25842	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	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	1659.33	36	chr17	78451519	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=764;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.565;SOR=0.937	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1673,0,1196	18	0	1	0
chr17	78567150	78567150	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon10:c.C1301T:p.A434V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0123983639916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765133483	4.132e-06	6.156e-06	6.842e-06	1.386e-06	0.0002	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	0	0	0.0002	3.612e-06	0	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	.	.	.	.	.	.	.	.	.	0.997904	0.07946	U	1.001520	0.988325	0.40743	D	1.895	0.50365	L	0.65	0.52642	T	-1.2	0.30555	N	0.632	0.64563	-0.9994	0.30087	T	0.120	0.41950	T	10	0.39358824	0.55066	T	0.012398	0.30939	T	0.228	0.52768	.	.	0.104622674875	0.10061	0.3438574975557102	0.34299	.	.	0.648892760277	0.59829	T	0.005075	0.04506	T	0.0256792	0.55146	T	-0.20089	0.54562	T	0.201623441271936	0.20505	T	0.889211	0.62120	D	0.10280989	0.24296	0.24259435	0.49684	0.10280989	0.24296	0.24259435	0.49683	-4.402	0.29585	T	.	.	0.222	0.45261	B	.;.	.;.	2.860819	0.37796	20.6	0.48526270201016353	0.04057	0.99531	0.97133	D	AEFDBI	0.863062	0.78151	D	-0.231769740798738	0.31837	1.789243	-0.19208357606636	0.31826	1.80481	0.999990148212785	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.62	4.62	0.56946	6.766000	0.74765	6.305000	0.55420	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	15.626	0.76609	887	0.27948	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1783.33	41	chr17	78567150	.	G	A	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.067;DP=789;ExcessHet=0;FS=2.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.552;SOR=0.874	GT:AD:DP:GQ:PL	0/1:80,76:156:99:1797,0,1952	18	0	1	0
chr17	80923510	80923510	G	T	exonic	RPTOR	.	nonsynonymous SNV	RPTOR:NM_001163034:exon19:c.G2171T:p.S724I,RPTOR:NM_020761:exon23:c.G2645T:p.S882I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0120106583633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.29688	T	0.449	0.70582	T	0.468	0.36503	P	0.08	0.28873	B	0.000000	0.84330	D	0.000000	0.999794	0.52935	D	0.805	0.20218	L	0.87	0.46412	T	-1.77	0.41809	N	0.836	0.83167	-1.0402	0.17253	T	0.120	0.41865	T	10	0.33210427	0.50422	T	0.012011	0.30193	T	0.167	0.42761	0.261	0.20473	0.274431252636	0.27063	0.5404935340448753	0.53974	0.926566427974	0.71669	0.573300659657	0.49144	T	0.44598	0.78879	T	0.0592653	0.59521	T	-0.152646	0.59008	T	0.932194411754608	0.59807	D	0.970303	0.90628	D	0.50326675	0.67286	0.1940348	0.43004	0.50326675	0.67287	0.1940348	0.43003	-8.464	0.64191	D	.	.	0.138	0.75665	B	.;.;.	.;.;.	4.118241	0.61538	24.3	0.99687195827452924	0.79641	0.98823	0.87323	D	AEFBI	0.858119	0.77557	D	0.302535149538904	0.56279	3.792314	0.404269234066322	0.61831	4.38879	0.999997338293918	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.02	5.02	0.66742	9.051000	0.93302	11.672000	0.94114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.0:1.0:0.0	18.356	0.90301	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1208.33	34	chr17	80923510	.	G	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.278;DP=722;ExcessHet=0;FS=1.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.83;SOR=0.531	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1222,0,950	18	0	1	0
chr17	81442340	81442340	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G991A:p.G331R,BAHCC1:NM_001377448:exon5:c.G991A:p.G331R	.	396	1103	21	2	0	25	0.0112057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.00419329	0.0177	0.0083	0.0312	0	0	0.0201	0	0.0182	0.0033635	520	154602	rs200635626	0.0073	0.0068	0.0068	0.0076	0.0121	0.0071	0.0070	0.0114	0.0111	0.0012	0.0051	0.0033	3.16e-05	0.0011	0.0055	0.0087	0.0059	0.0121	0.0054	0.0054	0.0058	0.0049	0.0120	0.0051	0.0050	0.0095	0.0087	0.0015	0.0033	0.0054	0.0043	0.0002	0.0011	0	0.0084	0.0090	0.0120	0.011	0.55530	D	0.283	0.21478	T	0.804	0.45171	P	0.084	0.29270	B	.	.	.	.	0.999999	0.08975	N	2.3	0.65703	M	2.79	0.11189	T	-2.2	0.49519	N	0.455	0.56058	-1.0086	0.27354	T	0.016	0.06473	T	9	0.006036341	0.00136	T	.	.	.	0.048	0.13305	0.12	0.02719	0.0806252709748	0.07271	0.12245195582152993	0.12172	0.502331297958	0.48594	0.842930495739	0.88540	D	0.230255	0.59628	T	-0.491739	0.00636	T	-0.468737	0.25653	T	0.0146539307956324	0.00303	T	0.80392	0.45897	T	0.07046136	0.15523	0.14767307	0.34938	0.07046136	0.15523	0.14767307	0.34937	-3.643	0.18481	T	.	.	0.327	0.55011	B	.;.	.;.	4.551593	0.71641	25.7	0.99801142503588558	0.88550	0.06367	0.12368	N	AEFBI	0.063739	0.12337	N	-0.398987019648809	0.25505	1.385015	-0.436542158329562	0.23934	1.30782	0.0064609846732517	0.11222	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.23	1.86	0.24489	1.691000	0.37340	8.301000	0.76932	0.585000	0.30472	0.756000	0.29198	1.000000	0.68203	0.489000	0.28769	0.1289:0.4504:0.4206:0.0	5.753	0.17426	.	.	.;.	RP13-516M14.10	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	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	2290.79	70	chr17	81442340	.	G	A	2290.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.44;DP=949;ExcessHet=0.3672;FS=0.559;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.412;SOR=0.784	GT:AD:DP:GQ:PL	0/1:25,29:54:99:872,0,578	16	0	3	0
chr17	81457557	81457557	A	G	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon17:c.A5006G:p.K1669R,BAHCC1:NM_001291324:exon18:c.A5099G:p.K1700R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0697346959139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.36765	T	0.998	0.73220	D	0.994	0.82059	D	0.014766	0.28435	N	0.220955	0.999263	0.46490	D	.	.	.	2.02	0.21119	T	-2.65	0.56787	D	0.304	0.40264	-0.9067	0.47250	T	0.137	0.45318	T	10	0.25220144	0.42571	T	0.069735	0.70810	D	0.147	0.38986	0.307	0.27806	0.239305524855	0.23518	0.4369747951235004	0.43614	0.419475071108	0.42501	0.814431011677	0.84172	D	0.112699	0.64322	T	-0.155214	0.27500	T	-0.460731	0.26518	T	0.981818795204163	0.74127	D	0.892711	0.65471	D	0.14837775	0.33877	0.20512863	0.44668	0.14837775	0.33877	0.20512863	0.44667	-8.322	0.63244	D	.	.	0.439	0.66029	A	.;.	.;.	4.476124	0.69796	25.4	0.99912012903090131	0.98095	0.92342	0.55490	D	AEFDBI	0.618006	0.60397	D	0.632372829984561	0.75231	6.269857	0.584406599254243	0.73822	6.033718	0.999999941486679	0.74766	0.600919	0.35232	0	0.547309	0.14657	0	0.576033	0.28219	0	0.620204	0.46100	0	.	.	4.85	4.85	0.62375	3.291000	0.51470	11.109000	0.86285	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.411	0.60389	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	912.33	84	chr17	81457557	.	A	G	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=886;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-2.156;SOR=0.86	GT:AD:DP:GQ:PL	0/1:59,39:98:99:926,0,1598	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	0/1:23,17:40:99:423,0,581	17	0	2	0
chr17	82083569	82083569	G	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon31:c.C5289A:p.H1763Q	.	0	1518	4	0	0	4	0.00131579	.	.	.	1507123	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.0410935839337	.	.	1.729e-05	0	0	0	0	1.575e-05	0	6.227e-05	1.29e-05	2	154602	rs778156553	2.602e-05	2.599e-05	2.316e-05	2.891e-05	0.0003	1.934e-05	1.694e-05	7.124e-05	5.482e-05	0	0	0	0	0	0.0003	2.068e-05	3.313e-05	0.0001	3.281e-05	3.28e-05	3.853e-05	2.684e-05	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0009	0	0.005	0.63226	D	0.039	0.51112	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.555	0.39373	L	3.71	0.04046	T	-5.35	0.84742	D	0.545	0.57177	-1.1950	0.00191	T	0.031	0.13242	T	10	0.55691904	0.64569	D	0.041094	0.59740	D	0.281	0.59861	0.534	0.64293	0.599828052619	0.59664	0.7495310205358348	0.74900	.	.	0.764755725861	0.76638	T	0.439385	0.78469	T	-0.278842	0.10791	T	-0.378634	0.35882	T	0.798870921134949	0.46276	D	0.946205	0.79443	D	0.74022925	0.80305	0.6994654	0.82295	0.74022925	0.80307	0.6994654	0.82296	-7.71	0.59077	D	.	.	0.511	0.65087	A	.;.	.;.	1.495230	0.19227	14.16	0.98583756784845966	0.43271	0.95070	0.63328	D	AEFGBHCI	0.319233	0.42269	N	-0.374821210150638	0.26369	1.438609	-0.598986147096943	0.19519	1.047621	0.992360608159961	0.32813	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	-6.83	0.01532	0.089000	0.14843	-7.037000	0.01246	-0.134000	0.12905	0.922000	0.32020	0.000000	0.08366	0.791000	0.37352	0.8046:0.0:0.1954:0.0	15.631	0.76659	.	.	Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2010.33	34	chr17	82083569	.	G	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=807;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.727;SOR=0.585	GT:AD:DP:GQ:PL	0/1:79,72:151:99:2024,0,1974	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:168,60:228:99:140,0,2607	9	0	7	3
chr18	756766	756766	G	A	exonic	YES1	.	nonsynonymous SNV	YES1:NM_005433:exon2:c.C62T:p.T21I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0231117278299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.194	0.28120	T	0.073	0.24078	B	0.015	0.17295	B	0.010838	0.29768	N	0.365001	0.781963	0.29323	N	1.155	0.29575	L	-0.82	0.74053	T	-0.45	0.14782	N	0.488	0.52208	-0.8855	0.49315	T	0.189	0.54005	T	10	0.11974299	0.22666	T	0.023112	0.46051	T	0.080	0.23350	0.123	0.02942	0.652799619513	0.64990	0.306996803715359	0.30612	0.32656759674	0.34803	0.346042335033	0.17338	T	0.104189	0.41352	T	-0.0903062	0.38027	T	-0.367495	0.37182	T	0.0707237952954502	0.08752	T	0.869813	0.57430	D	0.05353366	0.10144	0.04146646	0.04718	0.05353366	0.10144	0.04146646	0.04718	-3.531	0.16869	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	3.002031	0.40112	21.1	0.74099734769287129	0.10570	0.84046	0.43132	D	AEFBI	0.209624	0.33559	N	-0.547674282524739	0.20556	1.084534	-0.470111779524195	0.22982	1.250995	0.962145481235181	0.28602	0.722319	0.85440	0	0.653731	0.59785	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.91	1.87	0.24559	3.159000	0.50430	2.617000	0.33611	0.676000	0.76740	1.000000	0.71638	0.899000	0.27943	0.830000	0.39126	0.1672:0.1427:0.6901:0.0	6.902	0.23471	795	0.45444	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1525.33	41	chr18	756766	.	G	A	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=755;ExcessHet=0;FS=2.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=1.21;SOR=0.51	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1539,0,1762	18	0	1	0
chr18	5890308	5890308	C	T	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.G1756A:p.E586K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0209041014049	.	.	2.502e-05	0	8.657e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs757308256	8.276e-06	1.094e-05	4.112e-06	1.25e-05	0.0003	4.41e-06	3.49e-06	6.107e-05	2.527e-05	0	2.328e-05	0	0	0	0.0003	3.617e-06	0	6.016e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.331	0.18505	T	0.059	0.23051	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	.	.	.	-0.93	0.24898	N	0.062	0.06720	-1.0347	0.18951	T	0.038	0.16333	T	8	0.049239457	0.04484	T	0.020904	0.43593	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.1350898544850593	0.13432	.	.	0.314002662897	0.12512	T	0.005051	0.04483	T	-0.338221	0.05513	T	-0.538964	0.18397	T	0.102285172075058	0.12607	T	0.477752	0.14377	T	0.058473192	0.11766	0.042080365	0.04932	0.058473192	0.11766	0.042080365	0.04931	-3.651	0.18597	T	.	.	0.072	0.04396	B	.;.	.;.	1.529052	0.19621	14.36	0.94156849285531607	0.24360	0.10582	0.16048	N	AEFDBHCI	0.147955	0.27174	N	-1.09072224248344	0.06813	0.3147165	-1.11937822884006	0.07330	0.3561417	0.999530322463461	0.40238	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	4.41	-0.263	0.12314	-0.173000	0.09844	-0.112000	0.11818	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1214:0.2803:0.4509:0.1475	4.172	0.09795	979	0.04160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2282.33	37	chr18	5890308	.	C	T	2282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=891;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.818;SOR=0.849	GT:AD:DP:GQ:PL	0/1:133,93:226:99:2296,0,3137	18	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	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	0/1:185,33:218:99:280,0,4988	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	0/1:18,15:33:99:172,0,348	2	0	16	1
chr18	35977449	35977449	C	G	exonic	C18orf21	.	nonsynonymous SNV	C18orf21:NM_001201474:exon3:c.C76G:p.H26D,C18orf21:NM_001201475:exon3:c.C76G:p.H26D,C18orf21:NM_031446:exon4:c.C340G:p.H114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00726539805912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.12109	T	0.478	0.11968	T	0.002	0.09854	B	0.004	0.10090	B	0.940114	0.07589	N	1.023970	0.999826	0.20203	N	1.65	0.42232	L	1.02	0.41058	T	-3.54	0.68651	D	0.213	0.26475	-0.9963	0.30946	T	0.073	0.29675	T	10	0.079208225	0.12715	T	0.007265	0.19253	T	0.198	0.48105	0.309	0.28128	0.221019684889	0.21715	0.41231839138453236	0.41147	0.190790680271	0.21393	.	.	.	0.052912	0.32640	T	-0.0385222	0.46169	T	-0.293111	0.45447	T	0.0961648653125381	0.11929	T	0.513749	0.17252	T	0.08979752	0.20993	0.10306052	0.24718	0.08979752	0.20993	0.10306052	0.24718	-5.19	0.38840	T	.	.	0.152	0.33732	B	.;.;.;.;.	.;.;.;.;.	1.910059	0.24259	16.33	0.97096931830068212	0.32349	0.22208	0.21668	N	AEFBI	0.056668	0.10495	N	-0.564217537905041	0.20040	1.053501	-0.450026165973804	0.23548	1.284739	0.990050113550264	0.32023	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	1.42	0.21524	-0.109000	0.10810	-0.549000	0.08539	0.599000	0.40250	0.567000	0.27481	0.000000	0.08366	0.996000	0.76049	0.1605:0.4375:0.3121:0.09	3.545	0.07379	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	.	.	.	.	.	.	.	.	0.02632	2124.33	41	chr18	35977449	.	C	G	2124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.115;DP=767;ExcessHet=0;FS=1.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.365;SOR=0.565	GT:AD:DP:GQ:PL	0/1:61,81:142:99:2138,0,1570	18	0	1	0
chr18	45954978	45954978	C	T	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G424A:p.E142K	Vici syndrome, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	YES	647272	Vici_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0103505866416	0.0003	0.000199681	0.0002	0	8.64e-05	0	0	0.0003	0	0.0004	0.0002005	31	154602	rs190673127	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.987e-05	8.946e-05	0.0006	0	0	0.0014	7.554e-05	0.0003	0.0006	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.085e-05	5.743e-05	5.841e-05	4.239e-05	2.405e-05	0	0.0001	0.0012	0	0	0	0.0001	0.0005	0.0002	0.324	0.13392	T	0.694	0.05844	T	0.435	0.35719	B	0.058	0.26451	B	0.921041	0.07476	N	1.035730	1	0.08975	N	0.805	0.20218	L	2.72	0.11947	T	-0.8	0.22078	N	0.2	0.22098	-1.0269	0.21462	T	0.021	0.08917	T	10	0.018651992	0.00408	T	0.010351	0.26785	T	0.077	0.22490	.	.	0.1749357433	0.17121	0.20996486926482202	0.20912	0.165698584947	0.18694	0.315807342529	0.12786	T	0.007766	0.07155	T	-0.53957	0.00337	T	-0.684871	0.06691	T	0.0257833261304664	0.01376	T	0.760524	0.38496	T	0.14425811	0.33121	0.09956993	0.23779	0.14425811	0.33120	0.09956993	0.23779	-3.283	0.13519	T	0.13601412301195825	0.14835	0.067	0.02399	B	.;.	.;.	2.007247	0.25502	16.79	0.98083986902661402	0.38133	0.20748	0.21154	N	AEFBI	0.072065	0.14370	N	-0.863975026498786	0.11708	0.5664812	-0.829244918481494	0.13787	0.7171311	0.99999338597127	0.74766	0.489673	0.17934	0	0.653731	0.59785	0	0.608884	0.39905	0	0.662433	0.64102	0	.	.	5.76	4.89	0.63387	1.242000	0.32358	2.173000	0.31069	0.599000	0.40250	0.004000	0.16614	0.958000	0.29226	0.079000	0.17189	0.0:0.8489:0.0:0.1511	10.246	0.42521	973	0.05605	.;.	.	.	.	.	.	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	1378.33	36	chr18	45954978	.	C	T	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=761;ExcessHet=0;FS=5.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=1.1;SOR=0.528	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1392,0,2048	18	0	1	0
chr18	46507666	46507666	T	G	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.A281C:p.Y94S,LOXHD1:NM_001173129:exon4:c.A281C:p.Y94S,LOXHD1:NM_001308013:exon16:c.A1943C:p.Y648S,LOXHD1:NM_001145472:exon18:c.A2231C:p.Y744S,LOXHD1:NM_144612:exon35:c.A5378C:p.Y1793S,LOXHD1:NM_001384474:exon36:c.A5564C:p.Y1855S	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.0652955721585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.20381	T	0.202	0.65728	T	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.999097	0.46054	D	.	.	.	0.03	0.62183	T	-4.61	0.79998	D	0.833	0.91276	-0.2636	0.75989	T	0.403	0.75381	T	9	0.8319098	0.82353	D	0.065296	0.69535	D	0.604	0.84398	0.706	0.84236	0.466991082792	0.46324	0.8355020187923392	0.83510	.	.	0.693512439728	0.66211	T	0.093429	0.39209	T	0.272752	0.80685	D	0.154013	0.80435	D	0.832259574068187	0.48706	D	0.89531	0.63576	D	0.25125262	0.48132	0.48274934	0.70051	0.25125262	0.48132	0.48274934	0.70052	-9.784	0.80571	D	.	.	0.310	0.68065	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.586726	0.72512	25.8	0.89062665019896536	0.18480	0.96776	0.70878	D	AEFBI	0.859829	0.77758	D	0.653867760410119	0.76621	6.520163	0.628570696565776	0.77024	6.600303	0.987315296109884	0.31235	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	5.978000	0.70187	7.755000	0.68203	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.089	0.71847	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1837.33	36	chr18	46507666	.	T	G	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=794;ExcessHet=0;FS=4.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.151;SOR=1.086	GT:AD:DP:GQ:PL	0/1:80,82:162:99:1851,0,1883	18	0	1	0
chr18	48040675	48040675	C	T	exonic	ZBTB7C	.	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G433A:p.D145N,ZBTB7C:NM_001318841:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371286:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371288:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371285:exon5:c.G433A:p.D145N,ZBTB7C:NM_001371287:exon5:c.G433A:p.D145N,ZBTB7C:NM_001371284:exon6:c.G433A:p.D145N,ZBTB7C:NM_001371291:exon6:c.G433A:p.D145N,ZBTB7C:NM_001371290:exon9:c.G433A:p.D145N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0122209644477	.	0.000199681	1.66e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs539081436	7.527e-06	7.526e-06	0	1.513e-05	8.118e-05	4.04e-06	2.95e-06	3.766e-05	2.662e-05	0	0	0	2.519e-05	1.872e-05	0	8.994e-07	1.657e-05	8.118e-05	1.973e-05	1.971e-05	0	4.036e-05	0.0002	5.25e-06	2.46e-06	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0002	0.014	0.53172	D	0.184	0.29056	T	0.222	0.30359	B	0.022	0.19653	B	0.134820	0.18503	N	0.521312	0.999961	0.52935	D	0.69	0.16971	N	0.97	0.42502	T	-1.19	0.30346	N	0.401	0.45237	-1.0692	0.09590	T	0.060	0.25054	T	10	0.07931158	0.12743	T	0.012221	0.30597	T	0.094	0.27141	0.144	0.04746	0.134007934775	0.12933	0.07977809520318238	0.07912	0.454083579922	0.45095	0.414342522621	0.27057	T	0.016953	0.13915	T	-0.370682	0.03559	T	-0.588707	0.13778	T	0.363802254199982	0.27557	T	0.748325	0.36895	T	0.11989331	0.28221	0.07219329	0.15548	0.11989331	0.28221	0.07219329	0.15547	-6.168	0.47663	T	.	.	0.156	0.34449	B	.;.;.;.	.;.;.;.	2.905055	0.38512	20.8	0.98920590106603445	0.48546	0.98782	0.86783	D	AEFGBI	0.929360	0.91500	D	-0.286425093309001	0.29671	1.647541	-0.196279824855156	0.31673	1.794694	0.99999999999826	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	5.317000	0.65605	7.637000	0.63009	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	17.587	0.87884	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1297.33	34	chr18	48040675	.	C	T	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=745;ExcessHet=0;FS=4.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.687;SOR=1.204	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1311,0,1581	18	0	1	0
chr18	54294241	54294241	A	G	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.A1634G:p.Q545R,POLI:NM_001351610:exon9:c.A1871G:p.Q624R,POLI:NM_001351613:exon9:c.A1760G:p.Q587R,POLI:NM_001351614:exon9:c.A1688G:p.Q563R,POLI:NM_001351615:exon9:c.A1688G:p.Q563R,POLI:NM_001351617:exon9:c.A1454G:p.Q485R,POLI:NM_001351620:exon9:c.A1217G:p.Q406R,POLI:NM_001351611:exon10:c.A1793G:p.Q598R,POLI:NM_001351612:exon10:c.A1793G:p.Q598R,POLI:NM_001351618:exon10:c.A1454G:p.Q485R,POLI:NM_001351619:exon10:c.A1454G:p.Q485R,POLI:NM_001351632:exon10:c.A1922G:p.Q641R,POLI:NM_007195:exon10:c.A1997G:p.Q666R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0133659546673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.131	0.34596	T	0.993	0.65571	D	0.968	0.71741	D	0.017357	0.27746	N	0.346876	0.975992	0.39237	D	2.05	0.56469	M	0.78	0.55945	T	-1.16	0.29727	N	0.119	0.10911	-0.6206	0.63963	T	0.280	0.65179	T	10	0.17119804	0.31825	T	0.013366	0.32721	T	0.153	0.40148	0.243	0.17677	0.703022158834	0.70044	0.249038155212393	0.24817	0.0134552870572	0.01295	0.32847815752	0.14704	T	0.129076	0.45714	T	-0.083719	0.39107	T	-0.358033	0.38281	T	0.502171993255615	0.32709	D	0.69743	0.30707	T	0.07688007	0.17415	0.093614094	0.22120	0.07688007	0.17415	0.093614094	0.22120	-4.005	0.23878	T	.	.	0.074	0.15921	B	.;.;.;.	.;.;.;.	2.638879	0.34336	19.60	0.89360797621652577	0.18730	0.51905	0.29005	D	AEFGBCI	0.195061	0.32211	N	0.219430822454657	0.52141	3.390256	0.127646085829298	0.45968	2.850748	0.999876751896399	0.44625	0.706548	0.73137	0	0.80507	0.99744	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.85	4.85	0.62375	1.901000	0.39469	4.051000	0.41508	0.691000	0.84096	0.407000	0.26226	0.889000	0.27805	0.576000	0.30797	1.0:0.0:0.0:0.0	11.133	0.47584	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	933.33	35	chr18	54294241	.	A	G	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.754;DP=814;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.477;SOR=0.559	GT:AD:DP:GQ:PL	0/1:84,45:129:99:947,0,2201	18	0	1	0
chr18	62716500	62716500	C	T	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C817T:p.P273S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.5	.	.	.	.	.	.	0.5	3.88e-05	6	154602	rs754834443	4.181e-05	8.279e-05	3.434e-05	5.01e-05	0.0019	3.169e-05	2.822e-05	0.0014	0.0013	4.645e-05	0	0	0	0	0	2.213e-06	7.289e-05	0.0019	3.99e-05	3.948e-05	3.896e-05	4.088e-05	0.0008	1.732e-05	1.141e-05	0.0003	0.0002	0	0	6.61e-05	0	0	0	0	1.483e-05	0	0.0008	0.502	0.07695	T	0.754	0.04737	T	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	0	0.06538	N	1.9	0.23486	T	0.09	0.05917	N	0.031	0.00770	-0.9716	0.36862	T	0.021	0.08686	T	7	0.001489222	0.00017	T	.	.	.	0.007	0.00512	0.264	0.20946	0.082315109003	0.07666	0.10887400503243175	0.10816	1.57708980324	0.88325	0.759550869465	0.75862	T	0.04293	0.26341	T	-0.385119	0.02891	T	-0.790973	0.02138	T	0.0204042678299983	0.00740	T	0.454355	0.12956	T	0.017705016	0.00296	0.038808916	0.03831	0.017705016	0.00295	0.038808916	0.03830	-3.588	0.17684	T	.	.	0.072	0.04356	B	.	.	0.639712	0.10083	6.830	0.94335845042581834	0.24673	0.01147	0.04152	N	AEFDBCI	0.029231	0.02722	N	-1.07724868667867	0.07065	0.3270621	-1.2234942582227	0.05534	0.2639546	0.999999997784295	0.74766	0.495885	0.18260	0	0.449817	0.06596	2	0.231153	0.04653	2	0.554799	0.18163	0	.	.	2.14	-3.33	0.04649	-0.688000	0.05251	.	.	0.497000	0.22564	0.000000	0.06391	.	.	0.042000	0.14466	0.2356:0.3407:0.4237:0.0	4.552	0.11517	943	0.12886	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	195.59	6	chr18	62716500	.	C	T	195.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.143;DP=183;ExcessHet=0;FS=0;InbreedingCoeff=-0.0428;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.207;SOR=0.527	GT:AD:DP:GQ:PL	0/1:7,6:13:99:209,0,251	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|1:47,36:83:99:0|1:65824683_C_G:324,0,889:65824683	1	0	18	0
chr18	76868786	76868786	-	GCCTGCAAG	exonic	ZNF236	.	nonframeshift insertion	ZNF236:NM_001306089:exon4:c.465_466insGCCTGCAAG:p.K161_K162insACK,ZNF236:NM_007345:exon4:c.459_460insGCCTGCAAG:p.K159_K160insACK	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1266.29	33	chr18	76868786	.	T	TGCCTGCAAG	1266.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=678;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=1.07;SOR=1.341	GT:AD:DP:GQ:PL	0/1:21,32:53:99:1280,0,766	18	0	1	0
chr19	639942	639942	G	A	exonic	FGF22	.	stopgain	FGF22:NM_001300812:exon1:c.G17A:p.W6X,FGF22:NM_020637:exon1:c.G17A:p.W6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0385	.	.	.	.	0	0	0.0435	3.23e-05	5	154602	rs777555725	4.717e-05	6.567e-05	3.357e-05	6.21e-05	0.0032	3.646e-05	3.295e-05	0.0016	0.0012	0	0	0	0	0	0.0032	9.76e-06	9.336e-05	0.0012	4.614e-05	4.597e-05	0	9.438e-05	0.0010	2.115e-05	1.531e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.949e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.001045	0.00730	U	17.183100	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.53	0.56833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359493	0.87216	D	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.635134	0.99158	42	0.98692242597280422	0.44780	0.14962	0.18675	N	ALL	0.053110	0.09541	N	0.45456103728475	0.64464	4.701364	0.243354047181118	0.52272	3.403175	0.999999999975712	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.42	3.42	0.38259	0.613000	0.23994	5.455000	0.48656	0.494000	0.22454	0.973000	0.34540	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	11.986	0.52440	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	162.34	17	chr19	639942	.	G	A	162.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=295;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.618;SOR=1.445	GT:AD:DP:GQ:PL	0/1:6,6:12:99:176,0,166	18	0	1	0
chr19	760022	760022	A	G	exonic	MISP	.	nonsynonymous SNV	MISP:NM_173481:exon3:c.A1894G:p.R632G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0190022176604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213091669	6.157e-06	6.156e-06	8.168e-06	4.126e-06	6.296e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	3.313e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.073	0.34800	T	0.048	0.48594	D	0.98	0.59353	D	0.744	0.55835	P	0.032948	0.01762	N	2.205680	1	0.08975	N	1.32	0.33002	L	1.39	0.33842	T	-3.23	0.65056	D	0.262	0.29659	-0.9885	0.32978	T	0.137	0.45375	T	10	0.19615108	0.35495	T	0.019002	0.41240	T	0.059	0.16972	0.241	0.17371	0.322510055762	0.31862	0.19562255720783794	0.19479	0.0427295893604	0.04608	0.346655666828	0.17428	T	0.065679	0.32750	T	-0.21039	0.19324	T	-0.524501	0.19839	T	0.590346038341522	0.36020	D	0.386661	0.09517	T	0.1852845	0.39884	0.20768785	0.45038	0.1852845	0.39884	0.20768785	0.45037	-4.683	0.33197	T	.	.	0.110	0.21011	B	.	.	1.993311	0.25328	16.72	0.93528417594158175	0.23349	0.16257	0.19305	N	AEFGBI	0.101247	0.20340	N	-0.174309151102858	0.34207	1.949705	-0.320916905686625	0.27424	1.521612	0.580819723300721	0.21569	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	0.724000	0.25624	2.426000	0.32709	-0.045000	0.17359	0.001000	0.13787	0.045000	0.21693	0.014000	0.10232	1.0:0.0:0.0:0.0	9.989	0.41030	994	0.00715	A-kinase anchor protein 2, C-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	.	.	.	.	.	.	.	.	0.02632	614.33	39	chr19	760022	.	A	G	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.265;DP=720;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.006;SOR=0.529	GT:AD:DP:GQ:PL	0/1:39,29:68:99:628,0,996	18	0	1	0
chr19	1456369	1456369	C	G	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon7:c.C778G:p.P260A,APC2:NM_005883:exon8:c.C781G:p.P261A	.	421	1086	15	0	0	15	0.00685871	.	.	.	756758	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.389	.	0.0002	0.00219649	0.0024	0	0.0001	0.0002	0	0.0004	0.0017	0.0141	0.0014036	217	154602	rs142402932	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	8.996e-05	0.0002	0	5.056e-05	0	0.0049	9.186e-05	0.0012	0.0104	0.0004	0.0004	0.0003	0.0005	0.0083	0.0003	0.0003	0.0063	0.0055	0	0	0	0	0	0	0	0.0002	0.0009	0.0083	0.112	0.28900	T	0.371	0.26714	T	0.999	0.77913	D	0.986	0.76916	D	0.148973	0.18032	N	0.504726	1	0.81001	D	.	.	.	-3.2	0.93231	D	-3.49	0.68056	D	0.306	0.34552	0.379	0.88775	D	0.784	0.92666	D	10	0.0056124926	0.00124	T	.	.	.	0.389	0.70521	.	.	0.714506882058	0.71200	0.23941385464667617	0.23855	1.25408016346	0.81871	0.394693702459	0.24328	T	0.335134	0.70479	T	-0.264932	0.12327	T	-0.145371	0.59651	T	0.047867619714307	0.05119	T	0.767723	0.41282	T	0.122900784	0.28870	0.15135421	0.35656	0.14543363	0.33337	0.14691503	0.34788	-3.863	0.21749	T	.	.	0.067	0.09723	B	.;.;.;.	.;.;.;.	2.533035	0.32752	19.14	0.99580103929640629	0.72921	0.21987	0.21593	N	AEFDGBCI	0.085274	0.17286	N	-0.0377880999054481	0.40150	2.379502	-0.0591180286943421	0.37098	2.167643	0.977823280821432	0.29858	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.620976	0.48614	0	.	.	4.66	2.52	0.29514	0.415000	0.20901	1.025000	0.23435	0.524000	0.24156	0.002000	0.15269	0.355000	0.24491	0.992000	0.67800	0.0:0.7785:0.0:0.2215	6.470	0.21205	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002541	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.015385	0.05263	1055.83	33	chr19	1456369	.	C	G	1055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.757;DP=725;ExcessHet=0.119;FS=1.565;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.35;SOR=0.502	GT:AD:DP:GQ:PL	0/1:34,23:57:99:518,0,817	17	0	2	0
chr19	1819102	1819102	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon8:c.G2680A:p.E894K	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0631728403163	7.7e-05	0.000399361	0.0005	0	0.0004	0.0001	0	0.0003	0.0012	0.0028	0.0004398	68	154602	rs147787015	0.0003	0.0004	0.0002	0.0005	0.0033	0.0003	0.0003	0.0023	0.0022	3.04e-05	0.0003	8e-05	2.537e-05	0	0.0033	0.0002	0.0004	0.0026	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	0.0001	0	0	0	0	0.0001	0	0.0037	0.027	0.46513	D	0.013	0.63109	D	0.99	0.63424	D	0.663	0.52893	P	0.000005	0.62929	U	0.060625	1	0.81001	D	2.755	0.80505	M	2.58	0.13434	T	-2.14	0.48523	N	0.753	0.75192	-1.1244	0.02071	T	0.058	0.24242	T	10	0.012872994	0.00275	T	0.063173	0.68885	D	0.173	0.43840	.	.	0.147330786459	0.14319	0.696508076036932	0.69591	0.363337451299	0.37963	0.745195269585	0.73737	T	0.050	0.28584	T	-0.296286	0.09015	T	-0.203609	0.54304	T	0.128046041092182	0.15199	T	0.906609	0.67839	D	0.27736533	0.50794	0.27472112	0.53402	0.27736533	0.50794	0.27472112	0.53401	-9.831	0.72894	D	.	.	0.683	0.72246	P	.;.	.;.	4.703453	0.75492	26.3	0.99926765818631291	0.99103	0.99295	0.94095	D	AEFDBI	0.769893	0.70501	D	0.418540933804272	0.62442	4.460151	0.421283977371519	0.62891	4.512688	0.9999929792564	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	6.487000	0.73540	5.860000	0.50423	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	13.716	0.62178	952	0.10565	Elongin A binding-protein 1;Elongin A binding-protein 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002725	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	608.33	35	chr19	1819102	.	C	T	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=742;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.764;SOR=0.786	GT:AD:DP:GQ:PL	0/1:25,26:51:99:622,0,520	18	0	1	0
chr19	1825846	1825846	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon3:c.G2009A:p.G670D	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0235652446447	0.0003	0.000798722	0.0007	0.0002	0	0	0	0.0002	0	0.0041	0.0006662	103	154602	rs148840948	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	8.981e-05	8.945e-05	0	0	0	0.0028	0.0003	0.0005	0.0037	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0024	0.0020	7.242e-05	0	0.0001	0	0	0	0	0.0003	0	0.0038	0.004	0.65419	D	0.044	0.49663	D	0.931	0.51899	P	0.36	0.43183	B	0.001436	0.39044	N	0.212741	0.999994	0.58761	D	2.585	0.75554	M	1.93	0.22881	T	-2.63	0.56466	D	0.478	0.51315	-1.0349	0.18888	T	0.071	0.28806	T	10	0.0064382553	0.00146	T	0.023565	0.46536	T	0.105	0.29889	.	.	0.196089822672	0.19227	0.2863395221555701	0.28546	0.40514499607	0.41401	0.55399286747	0.46420	T	0.017612	0.14339	T	-0.367348	0.03731	T	-0.301602	0.44555	T	0.147077196427855	0.16869	T	0.738226	0.35599	T	0.33129314	0.55577	0.40487358	0.64903	0.33129314	0.55577	0.40487358	0.64903	-6.099	0.47100	T	.	.	0.225	0.45678	B	.	.	3.675873	0.52298	23.2	0.99678120929672998	0.79043	0.96080	0.67442	D	AEFDBCI	0.730305	0.67774	D	0.374473197177578	0.60041	4.189006	0.364681195664028	0.59396	4.117171	0.999999999941875	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	4.23	4.23	0.49319	5.880000	0.69443	5.707000	0.49406	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0:1.0:0.0:0.0	13.934	0.63520	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002725	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1159.33	51	chr19	1825846	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.295;SOR=0.702	GT:AD:DP:GQ:PL	0/1:23,42:65:99:1173,0,568	18	0	1	0
chr19	2110896	2110896	T	C	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_003938:exon25:c.A2800G:p.T934A,AP3D1:NM_001261826:exon27:c.A2986G:p.T996A,AP3D1:NM_001374799:exon27:c.A2950G:p.T984A	.	424	1097	1	0	0	1	0.000455581	0.0009	0.08	.	1648593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	.	0.000998403	0.0007	0.0002	0	0	0	0	0.0012	0.0047	0.0005369	83	154602	rs200937321	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0002	0.0042	0.0040	2.988e-05	0	0	0	0	0	2.698e-06	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	9.236e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.345	0.23007	T	0.806	0.04461	T	0.245	0.40609	B	0.098	0.38116	B	0.003822	0.34438	N	0.284783	0.991959	0.41517	D	1.78	0.46185	L	0.78	0.49358	T	-1.8	0.42384	N	0.47	0.50598	-1.0400	0.17313	T	0.097	0.36315	T	10	0.028422326	0.00974	T	0.010047	0.26124	T	0.197	0.47942	0.877	0.96683	0.435911362372	0.43211	0.2604311110473359	0.25956	0.0821195563771	0.09255	0.38582354784	0.23078	T	0.187284	0.54084	T	-0.4502	0.01126	T	-0.418779	0.31216	T	0.0722771461453236	0.08967	T	0.773323	0.45286	T	0.1256952	0.29458	0.09539336	0.22623	0.12550226	0.29419	0.10552167	0.25367	-4.365	0.29188	T	.	.	0.116	0.41648	B	.;.;.;.;.	.;.;.;.;.	2.833276	0.37356	20.5	0.98483785409623581	0.42014	0.81641	0.41004	D	AEFBHCI	0.365512	0.45366	N	-0.210159384126793	0.32718	1.848116	-0.12527859175865	0.34374	1.976557	0.968189317610572	0.29033	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	4.81	0.61401	5.324000	0.65643	6.118000	0.53749	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:0.0:1.0	13.163	0.58975	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	308.33	33	chr19	2110896	.	T	C	308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=716;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.25;SOR=0.999	GT:AD:DP:GQ:PL	0/1:21,15:36:99:322,0,491	18	0	1	0
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007921	0.000000	0.008130	0.000000	0.000000	0.000000	0.010638	0.026316	0.02632	645.33	39	chr19	3543599	.	G	A	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=761;ExcessHet=0;FS=3.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-2.676;SOR=1.14	GT:AD:DP:GQ:PL	0/1:43,30:73:99:659,0,988	18	0	1	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.1053	4201.43	34	chr19	3633475	.	C	T	4201.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.222;DP=936;ExcessHet=0.7564;FS=3.83;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.029;SOR=0.887	GT:AD:DP:GQ:PL	0/1:56,29:85:99:609,0,1350	15	0	4	0
chr19	5220297	5220297	G	T	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130853:exon13:c.C2219A:p.T740N,PTPRS:NM_130855:exon14:c.C2231A:p.T744N,PTPRS:NM_130854:exon17:c.C3446A:p.T1149N,PTPRS:NM_002850:exon21:c.C3512A:p.T1171N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0183159530372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.13557	T	0.0	0.02946	B	0.0	0.08700	B	0.026714	0.25874	U	0.338156	1	0.08975	N	-1.405	0.00592	N	0.72	0.54540	T	.	.	.	0.123	0.12055	-1.0587	0.12083	T	0.043	0.18410	T	10	0.037428975	0.02097	T	0.018316	0.40344	T	0.027	0.05988	0.273	0.22369	0.0675242888579	0.06100	0.7304463360276179	0.72989	.	.	0.419117093086	0.27715	T	0.105491	0.41600	T	-0.213205	0.18929	T	-0.54403	0.17903	T	0.0501653216779232	0.05529	T	0.776822	0.43036	T	0.048543144	0.08476	0.048387446	0.07176	0.048543144	0.08476	0.048387446	0.07175	-5.451	0.41858	T	.	.	0.068	0.11172	B	.;.;.;.;.	.;.;.;.;.	1.253518	0.16507	12.58	0.74295383018418015	0.10642	0.30999	0.24226	N	AEFDGBI	0.076420	0.15372	N	-0.975082648932921	0.09138	0.4312528	-0.845580284123242	0.13394	0.6945807	0.00351060920617483	0.10150	0.706298	0.61202	0	0.633656	0.55848	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.92	-1.46	0.08338	0.438000	0.21277	2.439000	0.32764	-0.148000	0.12190	0.988000	0.36536	0.971000	0.29754	0.711000	0.34484	0.1131:0.131:0.2727:0.4832	2.102	0.03458	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	.	.	.	.	.	.	.	.	0.02632	38.33	33	chr19	5220297	.	G	T	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=764;ExcessHet=0;FS=21.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.771;SOR=4.174	GT:AD:DP:GQ:PL	0/1:83,11:94:52:52,0,2177	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	0/1:71,17:88:34:34,0,1668	6	0	10	3
chr19	7873605	7873605	G	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon2:c.C85A:p.P29T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.592809743175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	2.052e-06	2.855e-06	0	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.729e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.971281	0.25661	N	.	.	.	.	.	.	.	.	.	0.252	0.28498	-0.5860	0.65380	T	0.258	0.62878	T	5	0.26254094	0.43723	T	0.59281	0.96389	D	.	.	.	.	0.0954503805726	0.09146	0.15439885537364906	0.15360	.	.	0.765998363495	0.76824	T	0.022591	0.17389	T	-0.22546	0.17253	T	-0.561634	0.16224	T	0.490972459316254	0.32300	T	0.408059	0.10511	T	0.16775382	0.37192	0.29735035	0.55768	0.16775382	0.37191	0.29735035	0.55767	-3.923	0.22647	T	.	.	0.151	0.33435	B	.	.	1.834796	0.23309	15.97	0.97368237874175134	0.33607	0.29406	0.23813	N	AEFDBI	0.113977	0.22467	N	-0.112128984772	0.36865	2.136681	-0.155983910978178	0.33180	1.895244	0.999970033433398	0.50053	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	3.18	3.18	0.35615	-0.093000	0.11077	2.216000	0.31409	0.514000	0.23422	0.000000	0.06391	0.990000	0.31317	0.123000	0.19290	0.0:0.0:1.0:0.0	10.004	0.41116	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	36	chr19	7873605	.	G	T	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=701;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.91;SOR=0.963	GT:AD:DP:GQ:PL	0/1:26,23:49:99:568,0,678	18	0	1	0
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3381.43	598	chr19	8888763	.	G	A	3381.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.37;DP=10081;ExcessHet=0.7564;FS=19.396;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.97;MQRankSum=-9.973;QD=1.4;ReadPosRankSum=1.4;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:550,43:593:99:0|1:8888763_G_A:150,0,22918:8888763	15	0	4	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1400.79	589	chr19	8888772	.	T	C	1400.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.529;DP=10042;ExcessHet=0.3672;FS=19.338;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.04;MQRankSum=-9.956;QD=0.77;ReadPosRankSum=1.05;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:549,45:594:99:0|1:8888763_G_A:237,0,22917:8888763	16	0	3	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|1:300,88:436:99:0|1:8888826_T_*:2795,0,12330:8888826	2	0	17	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,25:269:99:0|1:8900009_C_T:315,0,10159:8900009	5	0	14	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	477.91	132	chr19	8906329	.	A	G	477.91	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-0.176;DP=1435;ExcessHet=0.3672;FS=9.381;InbreedingCoeff=-0.101;MLEAC=3;MLEAF=0.083;MQ=58.71;MQRankSum=-11.86;QD=1.11;ReadPosRankSum=-1.861;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,10:144:17:0|1:8906315_G_T:17,0,5597:8906315	15	0	3	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:203,15:218:19:19,0,8434	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:201,15:216:25:25,0,8370	11	0	8	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic 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	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/1:99,85:184:99:2005,0,2593	14	0	5	0
chr19	10446256	10446256	G	A	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001111307:exon2:c.G359A:p.R120H,PDE4A:NM_001111308:exon2:c.G281A:p.R94H,PDE4A:NM_001111309:exon2:c.G176A:p.R59H,PDE4A:NM_001243121:exon4:c.G293A:p.R98H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.169901205273	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199602831	8.317e-06	8.209e-06	4.13e-06	1.256e-05	0.0002	4.44e-06	3.5e-06	9.898e-05	7.045e-05	0.0002	0	0	0	0	0	4.532e-06	0	0	5.256e-05	5.254e-05	2.57e-05	8.069e-05	0.0001	2.557e-05	1.83e-05	6.283e-05	4.299e-05	0.0001	0.0011	6.547e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.043	0.52060	D	0.064	0.64738	B	0.035	0.56370	B	0.000824	0.00693	N	3.991490	0.999991	0.58761	D	2.23	0.63091	M	-0.56	0.87512	T	-3.93	0.73267	D	0.324	0.36989	-0.5651	0.66208	T	0.452	0.78562	T	10	0.30179718	0.47720	T	0.169901	0.84760	D	0.365	0.68495	.	.	0.929748030895	0.92902	.	.	.	.	0.841088116169	0.88260	D	0.336291	0.70581	T	0.173492	0.71444	D	0.0468305	0.73375	D	0.978601932525635	0.72409	D	0.972478	0.91282	D	0.19037361	0.40619	0.11382769	0.27474	0.19037361	0.40619	0.11382769	0.27473	-4.236	0.32310	T	.	.	0.097	0.35788	B	.;.;.;.	.;.;.;.	4.058356	0.60212	24.2	0.999435945049993	0.99848	0.96229	0.68129	D	AEFDBI	0.910935	0.86952	D	0.186424460048609	0.50548	3.243697	0.218903781577457	0.50897	3.277035	0.999996379953219	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	4.1	4.1	0.47196	7.952000	0.87328	9.243000	0.79436	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	13.891	0.63238	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	695.33	34	chr19	10446256	.	G	A	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=675;ExcessHet=0;FS=4.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.093;SOR=0.213	GT:AD:DP:GQ:PL	0/1:30,26:56:99:709,0,761	18	0	1	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon4:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_001374457:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	0	1497	24	1	0	26	0.00860927	.	.	.	138990	not_provided|Intellectual_disability,_autosomal_dominant_16|Rhabdoid_tumor_predisposition_syndrome_2|Hereditary_cancer-predisposing_syndrome|Coffin-Siris_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	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	0.004065	0.000000	0.008219	0.000000	0.000000	0.008772	0.000000	0.007576	0.02632	1326.33	33	chr19	10986422	.	C	T	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=811;ExcessHet=0;FS=2.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.587;SOR=0.893	GT:AD:DP:GQ:PL	0/1:94,60:154:99:1340,0,2176	18	0	1	0
chr19	11252958	11252958	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon3:c.G133A:p.V45I,DOCK6:NM_020812:exon3:c.G133A:p.V45I	Adams-Oliver syndrome 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	0.7657	0.554	.	727891	Bone_Paget_disease|DOCK6-related_disorder|not_provided|Intellectual_disability	Human_Phenotype_Ontology:HP:0034159,MONDO:MONDO:0005382,MedGen:C0029401,OMIM:PS167250,Orphanet:280110|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	.	0.0020	0.00119808	0.0025	0.0002	0.0017	0	0.0003	0.0029	0	0.0045	0.0016041	248	154602	rs183060698	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0026	0.0025	0.0002	0.0010	0.0051	2.548e-05	0.0004	0.0002	0.0022	0.0020	0.0029	0.0014	0.0014	0.0016	0.0013	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0004	0.0052	0	0.0006	0.0034	0.0023	0.0019	0.0021	0.373	0.11442	T	0.146	0.32891	T	0.132	0.27209	B	0.05	0.25278	B	0.286628	0.14845	N	0.581626	0.999446	0.47080	D	0.65	0.16133	N	2.61	0.13095	T	-0.33	0.12472	N	0.178	0.19190	-1.0224	0.22932	T	0.019	0.07986	T	10	0.007945746	0.00180	T	0.007689	0.20404	T	0.051	0.14325	.	.	0.252162846088	0.24830	0.13591354136941314	0.13515	0.160741876183	0.18148	0.462928891182	0.33712	T	0.007154	0.06566	T	-0.641458	0.00082	T	-0.697865	0.05943	T	0.0112675946637516	0.00166	T	0.857914	0.54791	D	0.07884022	0.17977	0.06831415	0.14250	0.06645308	0.14300	0.057968765	0.10632	-4.432	0.29988	T	.	.	0.098	0.16187	B	.	.	4.048498	0.59987	24.2	0.9942266448115552	0.63838	0.91579	0.53824	D	AEFBI	0.278391	0.39269	N	-0.23901401373882	0.31545	1.769838	-0.0704514433709557	0.36618	2.133321	0.99999505616032	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	4.65	4.65	0.57626	2.439000	0.44504	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	16.291	0.82583	830	0.39242	.	.	.	.	.	.	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	0.001009	0.000000	0.002717	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	678.33	34	chr19	11252958	.	C	T	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.658;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.295;SOR=0.604	GT:AD:DP:GQ:PL	0/1:19,29:48:99:692,0,443	18	0	1	0
chr19	13208815	13208815	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon46:c.C6724T:p.R2242W,CACNA1A:NM_001127222:exon46:c.C6721T:p.R2241W	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	37	1483	2	0	0	2	0.000673854	.	.	.	647724	Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|CACNA1A-related_disorder|not_provided	MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.467	0.763836811524	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760428308	7.878e-06	8.893e-06	7.086e-06	8.688e-06	2.704e-05	4.23e-06	3.09e-06	3.9e-06	2.82e-06	0	2.704e-05	0	0	0	0	8.278e-06	1.718e-05	0	6.582e-06	6.57e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.022	0.48642	D	0.026	0.56192	D	.	.	.	.	.	.	0.657997	0.05962	U	1.312740	0.995167	0.23357	N	2.32	0.66415	M	-3.88	0.97394	D	-3.67	0.70191	D	0.353	0.39962	0.295	0.87479	D	0.870	0.95677	D	10	0.7006326	0.72421	D	0.763837	0.98127	D	0.467	0.76222	0.304	0.27325	0.887781409754	0.88668	0.28405105164845756	0.28318	0.825720942332	0.67392	0.912779211998	0.97727	D	0.066841	0.33711	T	0.121	0.66471	D	-0.0577053	0.66493	T	0.936755418777466	0.60600	D	0.954605	0.84807	D	0.091813214	0.21525	0.114023216	0.27522	0.091813214	0.21525	0.114023216	0.27521	-6.751	0.52989	T	0.2716427936174184	0.36535	0.237	0.49304	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.552681	0.49947	22.9	0.9947149547208668	0.66365	0.65035	0.32603	D	AEFDGBHCI	0.612890	0.60079	D	0.051676088637897	0.44219	2.700024	-0.0357304530319911	0.38114	2.240936	0.999999984823797	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	3.92	1.52	0.22158	0.242000	0.17862	2.340000	0.32248	-0.423000	0.05224	0.586000	0.27634	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.4675:0.5325	9.006	0.35273	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	302.63	34	chr19	13208815	.	G	A	302.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=954;ExcessHet=0;FS=3.032;InbreedingCoeff=-0.0395;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.975;SOR=1.938	GT:AD:DP:GQ:PL	0/1:17,12:29:99:316,0,343	18	0	1	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R,PALM3:NM_001145028:exon7:c.G1765C:p.G589R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	141.21	42	chr19	14053907	.	C	G	141.21	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.59;DP=2147;ExcessHet=0.3672;FS=118.101;InbreedingCoeff=-0.1673;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.812;SOR=9.087	GT:AD:DP:GQ:PL	0/1:108,29:137:9:9,0,2276	11	0	3	5
chr19	15372993	15372993	G	T	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C719A:p.P240H	.	427	1083	12	0	0	12	0.00550964	.	.	.	727979	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	7.7e-05	0.00299521	0.0021	0.0001	0.0001	0	0	0.0003	0.0089	0.0198	0.0016947	262	154602	rs374389542	0.0009	0.0009	0.0006	0.0013	0.0137	0.0009	0.0009	0.0130	0.0127	0.0002	2.565e-05	0.0003	5.12e-05	7.92e-05	0.0031	0.0001	0.0009	0.0137	0.0004	0.0004	0.0003	0.0005	0.0118	0.0003	0.0003	0.0093	0.0085	2.405e-05	0	6.536e-05	0	0	9.409e-05	0	4.411e-05	0.0009	0.0118	0.003	0.68238	D	0.098	0.39040	T	0.983	0.60381	D	0.533	0.48638	P	0.831388	0.09103	N	0.915529	1	0.20372	N	2.175	0.60977	M	0.86	0.46777	T	0.07	0.06138	N	0.177	0.19055	-0.9828	0.34351	T	0.144	0.46660	T	10	0.0064412057	0.00146	T	.	.	.	0.093	0.26882	.	.	0.260580752073	0.25663	0.31237265752293847	0.31150	0.1727655943	0.19448	0.348351150751	0.17679	T	0.105377	0.41579	T	-0.506549	0.00525	T	-0.488723	0.23524	T	0.0312971576140154	0.02193	T	0.490351	0.15073	T	0.06584637	0.14113	0.07715346	0.17160	0.06584637	0.14112	0.07715346	0.17160	-5.77	0.44312	T	.	.	0.126	0.26638	B	.	.	2.566081	0.33239	19.28	0.99237374116459753	0.56437	0.69904	0.34373	D	AEFDBCI	0.078558	0.15853	N	-0.0249957057307379	0.40727	2.42354	-0.137233861251097	0.33903	1.944346	0.0822063510068192	0.15894	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	2.48	0.29194	1.800000	0.38469	.	.	-0.122000	0.13826	0.991000	0.37257	1.000000	0.68203	0.071000	0.16709	0.0:0.1836:0.6539:0.1625	8.692	0.33435	656	0.62345	.	.	.	.	.	.	Likely benign	0	0	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	0.003543	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	710.33	34	chr19	15372993	.	G	T	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.242;DP=710;ExcessHet=0;FS=12.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.18;SOR=1.945	GT:AD:DP:GQ:PL	0/1:42,36:78:99:724,0,1107	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	0/1:10,4:18:21:.:.:201,0,425:.	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	1/0:0,10:20:99:1781,333,197	4	6	8	1
chr19	17656161	17656161	C	A	exonic	UNC13A	.	nonsynonymous SNV	UNC13A:NM_001080421:exon10:c.G1005T:p.E335D	.	308	1211	3	0	0	3	0.00123711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.016788866317	.	.	0.0002	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs764050434	5.428e-05	5.404e-05	4.087e-05	6.807e-05	0.0007	4.446e-05	4.059e-05	0.0003	0.0002	0	0	0	0	0	0.0007	3.799e-05	3.438e-05	0.0004	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.604	0.05973	T	0.396	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.929249	0.07525	U	1.050960	0.99886	0.21853	N	1.39	0.34934	L	-1.55	0.81815	D	-0.65	0.18877	N	0.238	0.29197	-0.9247	0.44901	T	0.235	0.60209	T	10	0.026242882	0.00796	T	0.016789	0.38210	T	0.167	0.42761	0.178	0.08503	0.401767401478	0.39795	0.12926619417880195	0.12851	0.187802654429	0.21102	0.531611025333	0.43262	T	0.065189	0.32625	T	-0.110385	0.34706	T	-0.396337	0.33812	T	0.0393998242644775	0.03583	T	0.748325	0.36895	T	0.025882788	0.01578	0.029242573	0.01241	0.025882788	0.01578	0.029242573	0.01241	-5.297	0.39913	T	.	.	0.088	0.21578	B	.;.;.;.	.;.;.;.	0.867199	0.12399	8.935	0.95417265840870924	0.26892	0.50734	0.28731	D	AEFDGBHCI	0.368547	0.45560	N	-0.912941910067695	0.10539	0.5040685	-0.822584807848805	0.13949	0.7263263	0.992027874509548	0.32692	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.56	-0.834	0.10234	0.370000	0.20166	-1.525000	0.05244	-0.344000	0.05652	0.005000	0.17040	0.000000	0.08366	0.865000	0.41091	0.0:0.4589:0.1694:0.3717	4.566	0.11584	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1316.33	35	chr19	17656161	.	C	A	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=832;ExcessHet=0;FS=2.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.82;SOR=0.481	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1330,0,1891	18	0	1	0
chr19	23933444	23933444	A	C	exonic	ZNF726	.	nonsynonymous SNV	ZNF726:NM_001244038:exon4:c.A1328C:p.H443P	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.00577239136333	.	0.000798722	0.0014	0.0001	0.0005	0	0.0002	0.0018	0.0011	0.0022	0.0012225	189	154602	rs147413616	0.0014	0.0014	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0006	0	2.521e-05	0.0001	0.0012	0.0016	0.0009	0.0017	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0005	0	0	9.416e-05	0	0.0017	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.995	0.96723	H	-2.18	0.86722	D	-9.42	0.98394	D	0.545	0.57177	-0.2854	0.75393	T	0.546	0.83312	D	6	0.043185294	0.03141	T	0.005772	0.14982	T	0.399	0.71321	.	.	0.440705552886	0.43688	0.08717460043963202	0.08650	.	.	0.499027192593	0.38692	T	.	.	.	-0.1831	0.23276	T	-0.0490174	0.67090	D	0.224702542605646	0.21696	T	0.0331967	0.00358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.71480	P	.;.	.;.	2.688986	0.35092	19.81	0.93381099623030384	0.23130	0.84744	0.43832	D	AEFBCI	0.555410	0.56586	D	-0.111559715402916	0.36889	2.138448	-0.207937247619632	0.31250	1.766778	0.00151474126328039	0.08604	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	0.814	0.814	0.17897	6.491000	0.73556	.	.	0.264000	0.18430	0.999000	0.42656	0.057000	0.21958	0.016000	0.10718	1.0:0.0:0.0:0.0	5.434	0.15768	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	.	.	.	.	.	.	.	.	0.02632	1307.33	33	chr19	23933444	.	A	C	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=728;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.159;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,44:93:99:0|1:23933444_A_C:1321,0,1694:23933444	18	0	1	0
chr19	35511519	35511519	A	0	exonic	DMKN	.	.	.	.	467	923	28	1	103	133	0.0159915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1193.29	48	chr19	35511519	.	A	*	1193.29	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.49;DP=796;ExcessHet=0.3672;FS=1.325;InbreedingCoeff=-0.1143;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.131;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,35:60:99:.:.:1311,0,945:.	16	0	2	1
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,31:112:99:0|1:37887093_A_G:476,0,2591:37887093	10	0	8	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,31:112:99:0|1:37887093_A_G:477,0,2563:37887093	4	0	11	4
chr19	38385530	38385530	G	C	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon3:c.C1732G:p.R578G	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0187253998177	0.0005	0.000798722	0.0010	0.0002	0.0011	0	0.0003	0.0010	0.0023	0.0019	0.0008344	129	154602	rs148338405	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	8.962e-05	0.0006	7.658e-05	0	0.0001	0.0017	0.0007	0.0008	0.0025	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0008	0.0006	0.0001	0	0.0005	0	0	0	0.0068	0.0007	0.0009	0.0017	1.0	0.00964	T	0.377	0.16134	T	0.0	0.02946	B	0.0	0.01387	B	0.265860	0.15223	N	0.485676	1	0.08975	N	-0.895	0.01383	N	.	.	.	-0.38	0.13418	N	0.064	0.03613	-0.9675	0.37713	T	0.019	0.07800	T	9	0.005235046	0.00114	T	0.018725	0.40888	T	0.047	0.12962	.	.	0.229924730088	0.22615	0.1561007211257281	0.15531	0.401460243881	0.41128	0.438708156347	0.30400	T	0.00375	0.03161	T	-0.551767	0.00285	T	-0.570278	0.15424	T	0.0122056076163717	0.00196	T	0.407159	0.10452	T	0.06075785	0.12503	0.05806986	0.10667	0.06075785	0.12503	0.05806986	0.10667	-2.796	0.08147	T	.	.	0.055	0.00368	B	.	.	0.363569	0.07360	3.981	0.85796995377976326	0.16118	0.00682	0.02924	N	AEFDBHCI	0.036751	0.04948	N	-1.4922867451348	0.01904	0.08355226	-1.413968683784	0.03112	0.1445218	0.999966187034908	0.48965	0.205752	0.04085	2	0.379588	0.06130	0	0.459711	0.06710	0	0.508809	0.08732	0	.	.	3.46	-0.564	0.11185	-1.493000	0.02403	-0.716000	0.07727	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.4065:0.4591:0.1343	5.31	0.15133	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05263	3315.83	33	chr19	38385530	.	G	C	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=887;ExcessHet=0.119;FS=0.432;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.072;SOR=0.664	GT:AD:DP:GQ:PL	0/1:82,84:166:99:1962,0,1827	17	0	2	0
chr19	38566986	38566986	G	C	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon91:c.G13498C:p.D4500H,RYR1:NM_000540:exon92:c.G13513C:p.D4505H	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.0023	0.02	.	99159	not_specified|Malignant_hyperthermia_of_anesthesia|Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|RYR1-related_disorder|EMG:_myopathic_abnormalities|Generalized_muscle_weakness|Congenital_hip_dislocation|Congenital_muscular_dystrophy|not_provided|Myopathy,_progressive_axial_with_cataracts	MedGen:CN169374|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|MedGen:CN239331|Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726|Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674|Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555|Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242|MedGen:C3661900|MedGen:CN221568	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.663	0.349568962691	0.0033	0.00179712	0.0061	0.0016	0.0021	0	0.0024	0.0097	0.0030	0.0030	0.0032406	501	154602	rs150396398	0.0056	0.0055	0.0057	0.0055	0.0066	0.0055	0.0054	0.0064	0.0064	0.0009	0.0015	0.0047	0	0.0016	0.0005	0.0066	0.0045	0.0027	0.0033	0.0033	0.0034	0.0032	0.0056	0.0031	0.0030	0.0052	0.0050	0.0012	0	0.0019	0.0049	0	0.0012	0	0.0056	0.0014	0.0021	0.005	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.92359	D	0.000003	0.62929	U	0.000000	0.995788	0.42855	D	2.535	0.73915	M	-3.79	0.95663	D	-4.0	0.74051	D	0.773	0.77039	0.856	0.95107	D	0.884	0.96159	D	10	0.028258473	0.00960	T	0.349569	0.92232	D	0.663	0.87430	.	.	0.98892223866	0.98879	0.5731486778994425	0.57242	0.678197850904	0.59866	0.658598899841	0.61208	T	0.850588	0.96597	D	-0.0124184	0.49926	T	0.213111	0.83823	D	0.0525013663598184	0.05934	T	0.938806	0.76978	D	0.5693835	0.71026	0.47030425	0.69283	0.61485875	0.73489	0.4457878	0.67715	-7.162	0.55208	T	.	.	0.715	0.73595	P	.;.	.;.	3.359262	0.46366	22.3	0.46110370674987167	0.03669	0.79803	0.39617	D	AEFDBI	0.520208	0.54516	D	0.475060204841849	0.65638	4.847722	0.352072574367908	0.58631	4.034945	0.999884147794457	0.44867	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.93	3.93	0.44666	2.971000	0.48940	11.415000	0.92701	0.614000	0.49286	0.996000	0.39380	1.000000	0.68203	0.070000	0.16646	0.0:0.0:1.0:0.0	15.916	0.79304	659	0.61982	.;Ryanodine Receptor TM 4-6	.	.	.	.	.	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	0.002064	0.000000	0.001362	0.000000	0.000000	0.000000	0.003185	0.003906	0.05263	1907.83	34	chr19	38566986	.	G	C	1907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=715;ExcessHet=0.119;FS=3.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.807;SOR=0.993	GT:AD:DP:GQ:PL	0/1:31,29:60:99:735,0,706	17	0	2	0
chr19	39423868	39423868	C	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon19:c.C2558T:p.P853L,PLEKHG2:NM_022835:exon19:c.C2735T:p.P912L	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00582969969954	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs773461401	2.189e-05	2.189e-05	1.497e-05	2.888e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	0	0	5.038e-05	0	0.0009	2.698e-06	3.311e-05	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	1.0	0.00964	T	0.193	0.28210	T	0.0	0.07471	B	0.0	0.01387	B	0.315736	0.04043	N	1.586680	1	0.08975	N	-0.76	0.01693	N	0.18	0.60361	T	-0.81	0.22294	N	0.056	0.02759	-1.0202	0.23649	T	0.033	0.13986	T	10	0.024253994	0.00661	T	0.00583	0.15161	T	0.153	0.40148	0.131	0.03577	0.139678290688	0.13603	0.05144324159354775	0.05086	.	.	0.216956108809	0.01141	T	0.005115	0.04549	T	-0.35828	0.04228	T	-0.441902	0.28596	T	0.0232427604652559	0.01052	T	0.677732	0.28733	T	0.016985962	0.00237	0.029103825	0.01212	0.016985962	0.00237	0.029103825	0.01212	-2.612	0.06595	T	.	.	0.061	0.01810	B	.;.	.;.	-0.525423	0.01788	0.138	0.29732933997882566	0.01592	0.01309	0.04537	N	AEFBCI	0.032417	0.03657	N	-1.19120991678054	0.05133	0.2332453	-1.30369535964429	0.04382	0.2065773	0.999804056597766	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.94	-2.8	0.05477	-0.554000	0.06097	.	.	-1.698000	0.00761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1481:0.2909:0.3038:0.2572	1.236	0.01834	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1524.33	138	chr19	39423868	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1694;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.58;SOR=0.739	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1538,0,1908	18	0	1	0
chr19	40215212	40215212	C	T	exonic	MAP3K10	.	nonsynonymous SNV	MAP3K10:NM_002446:exon10:c.C2785T:p.P929S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.112463994066	.	.	3.404e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs755460900	6.327e-06	6.156e-06	6.963e-06	5.678e-06	4.905e-05	2.98e-06	2.16e-06	1.645e-05	9.72e-06	0	0	0	0	0	0	3.659e-06	1.697e-05	4.905e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.253	0.23501	T	0.651	0.40707	P	0.165	0.35019	B	0.005222	0.32979	N	0.269005	0.953783	0.26392	N	2.605	0.76211	M	-0.89	0.74793	T	-2.88	0.60507	D	0.305	0.34444	-0.7986	0.55227	T	0.200	0.55555	T	10	0.256607	0.43067	T	0.112464	0.79062	D	0.156	0.40720	0.253	0.19223	0.805336479385	0.80351	0.25838586455091433	0.25752	0.273693074295	0.29866	0.423796355724	0.28359	T	0.219917	0.58305	T	-0.207413	0.19744	T	-0.310009	0.43657	T	0.401141166687012	0.28985	T	0.740526	0.35940	T	0.10011449	0.23636	0.12473541	0.30063	0.10011449	0.23636	0.12473541	0.30062	-3.831	0.21268	T	.	.	0.104	0.18705	B	.	.	3.390819	0.46947	22.4	0.9938671305714688	0.62157	0.95317	0.64251	D	AEFDI	0.362186	0.45153	N	-0.149077235604641	0.35274	2.023996	-0.10548865973641	0.35169	2.031448	0.100330732797303	0.16351	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	3.42	0.38259	4.308000	0.58922	.	.	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.359000	0.25863	0.0:0.6314:0.3686:0.0	10.965	0.46619	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1204.33	35	chr19	40215212	.	C	T	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.178;SOR=0.733	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1218,0,1179	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|1:0,44:44:99:1|1:40667975_C_T:1872,132,0:40667975	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|1:0,44:44:99:1|1:40667975_C_T:1872,132,0:40667975	1	7	11	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.07895	4577.79	75	chr19	40749800	.	T	C	4577.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.415;DP=1652;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1300,0,1687	16	0	3	0
chr19	41717460	41717460	C	T	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon5:c.C964T:p.P322S,CEACAM5:NM_001308398:exon5:c.C961T:p.P321S,CEACAM5:NM_004363:exon5:c.C964T:p.P322S	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0147912560774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.42e-06	4.087e-06	2.753e-06	3.599e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.273	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.8	0.80474	T	-4.51	0.78222	D	0.073	0.08506	-0.8826	0.49553	T	0.260	0.63033	T	9	0.059197932	0.09945	T	0.014791	0.35134	T	0.035	0.08770	0.338	0.32816	0.469907520169	0.46616	0.2625777536705109	0.26170	0.202852445016	0.22704	0.329460084438	0.14853	T	0.011251	0.10776	T	-0.184446	0.23077	T	-0.502721	0.22065	T	0.108651562974924	0.13283	T	0.844516	0.52185	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.25364	B	.;.;.;.;.	.;.;.;.;.	0.229872	0.06111	2.557	0.33568789118485859	0.02006	0.00063	0.00458	N	AEFGBI	0.028788	0.02600	N	-1.30951473319206	0.03566	0.159496	-1.38800061060622	0.03379	0.1574972	5.43523482069967E-5	0.04171	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.77	-0.859	0.10143	-1.436000	0.02527	-12.830000	0.00497	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5364:0.0:0.4636	5.885	0.18123	835	0.38313	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1898.33	33	chr19	41717460	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.781;DP=787;ExcessHet=0;FS=0.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.05;SOR=0.605	GT:AD:DP:GQ:PL	0/1:90,73:163:99:1912,0,2558	18	0	1	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	0/1:70,11:81:1:.:.:1,0,1507:.	13	0	6	0
chr19	49890587	49890587	C	A	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G676T:p.V226L,IL4I1:NM_152899:exon8:c.G787T:p.V263L,IL4I1:NM_001258017:exon10:c.G853T:p.V285L,IL4I1:NM_001258018:exon10:c.G853T:p.V285L,IL4I1:NM_172374:exon10:c.G853T:p.V285L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.775152926553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.067e-07	1.368e-06	0	1.429e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.33753	T	0.315	0.19421	T	0.006	0.13644	B	0.009	0.14300	B	0.587976	0.05575	N	1.263030	1	0.08975	N	1.475	0.37068	L	-2.95	0.91903	D	-1.47	0.35991	N	0.04	0.01347	-0.3239	0.74313	T	0.624	0.86771	D	10	0.3286972	0.50134	T	0.775153	0.98225	D	0.251	0.56024	0.693	0.83032	0.428747304603	0.42495	0.6683682615884012	0.66774	0.472386944088	0.46475	0.680229008198	0.64301	T	0.597837	0.87066	D	-0.106663	0.35320	T	-0.39099	0.34435	T	0.294416040182114	0.24773	T	0.623338	0.24021	T	0.2664247	0.49713	0.16485003	0.38166	0.2664247	0.49712	0.16485003	0.38165	-5.323	0.41265	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	2.196359	0.28006	17.65	0.96488268192611604	0.29998	0.24270	0.22341	N	ALL	0.103926	0.20808	N	-0.466959564034017	0.23169	1.24231	-0.374838755330969	0.25750	1.417972	0.999999999904994	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.06	2.96	0.33383	0.299000	0.18892	1.001000	0.23261	0.446000	0.21189	0.004000	0.16614	0.045000	0.21693	0.893000	0.43066	0.0:0.7448:0.2552:0.0	8.787	0.33985	632	0.64850	Amine oxidase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	664.33	35	chr19	49890587	.	C	A	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=672;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.11;SOR=0.307	GT:AD:DP:GQ:PL	0/1:20,24:44:99:678,0,443	18	0	1	0
chr19	50293278	50293278	C	T	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon36:c.C5179T:p.R1727W,MYH14:NM_001077186:exon37:c.C5203T:p.R1735W,MYH14:NM_001145809:exon38:c.C5302T:p.R1768W	Deafness, autosomal dominant 4A, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	797903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.451	0.290767804427	.	.	2.737e-05	0	0	0	0	4.861e-05	0	0	1.29e-05	2	154602	rs766866459	1.921e-05	2.121e-05	1.774e-05	2.07e-05	5.055e-05	1.332e-05	1.147e-05	1.462e-05	1.229e-05	0	0	0	5.055e-05	0	0	2.161e-05	1.661e-05	1.172e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.025	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.591764	0.32462	D	2.475	0.71894	M	-1.24	0.78967	T	-7.15	0.94096	D	0.64	0.77319	0.236	0.86509	D	0.597	0.85609	D	9	0.6592406	0.70056	D	0.290768	0.90556	D	0.451	0.75143	0.533	0.64148	0.794785988198	0.79287	0.554681748226215	0.55395	0.673678565086	0.59604	0.730019748211	0.71509	T	0.813293	0.95357	D	-0.00324544	0.51206	T	-0.1726	0.57206	T	0.906743228435516	0.56084	D	0.995834	0.98556	D	0.14890827	0.33973	0.13700691	0.32760	0.14890827	0.33973	0.13700691	0.32759	-12.124	0.85450	D	0.730619312750258	0.81227	0.420	0.67195	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.526253	0.71015	25.6	0.99894714580174981	0.96819	0.66855	0.33224	D	AEFDBI	0.691816	0.65168	D	0.157220278498115	0.49155	3.11904	-0.030745534756881	0.38334	2.256971	0.0302185532208346	0.13930	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	3.51	-0.185	0.12624	-0.099000	0.10976	-0.464000	0.09021	0.580000	0.29708	0.266000	0.25007	0.000000	0.08366	0.990000	0.65344	0.5169:0.4831:0.0:0.0	10.437	0.43625	698	0.58074	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	960.33	38	chr19	50293278	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.18;DP=722;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=1.41;SOR=0.537	GT:AD:DP:GQ:PL	0/1:54,43:97:99:974,0,1283	18	0	1	0
chr19	50725114	50725114	-	G	exonic	CLEC11A	.	frameshift insertion	CLEC11A:NM_002975:exon4:c.620dupG:p.G209Rfs*94	.	419	1098	4	1	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00139776	0.0059	0	0	0	0	0.0085	0	0.0056	0.0003074	8	26028	rs562569155	0.0043	0.0041	0.0042	0.0043	0.0047	0.0042	0.0041	0.0046	0.0046	0.0007	0.0012	0.0066	0	0.0028	0.0009	0.0047	0.0041	0.0032	0.0032	0.0032	0.0032	0.0031	0.0048	0.0029	0.0028	0.0044	0.0042	0.0008	0	0.0018	0.0078	0	0.0037	0	0.0048	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001092	0.000000	0.000000	0.000000	0.000000	0.000000	0.006849	0.000000	0.02632	895.29	35	chr19	50725114	.	C	CG	895.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.765;DP=745;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.19;SOR=0.484	GT:AD:DP:GQ:PL	0/1:54,37:91:99:909,0,1479	18	0	1	0
chr19	51354520	51354520	T	G	exonic	ETFB	.	nonsynonymous SNV	ETFB:NM_001014763:exon1:c.A119C:p.E40A	Glutaric acidemia IIB, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	140929	Multiple_acyl-CoA_dehydrogenase_deficiency|not_specified|ETFB-related_disorder|not_provided	MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	0.0527105367646	0.0026	0.000798722	0.0023	0.0006	0.0012	0	0.0057	0.0033	0.0022	0	0.0023997	371	154602	rs143144671	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0051	0.0050	0.0006	0.0012	0.0002	2.519e-05	0.0051	0	0.0052	0.0040	1.159e-05	0.0028	0.0029	0.0027	0.0030	0.0044	0.0026	0.0025	0.0039	0.0038	0.0008	0	0.0028	0.0006	0	0.0056	0	0.0044	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.03	0.07444	N	0.068	0.04072	-0.8814	0.49650	T	0.300	0.67120	T	7	0.0035980046	0.00065	T	0.052711	0.65181	D	0.115	0.32236	.	.	0.285316908763	0.28143	0.2277933875513649	0.22694	0.461824951567	0.45723	0.268920212984	0.06001	T	.	.	.	-0.522517	0.00425	T	-0.521832	0.20110	T	0.00819110162031581	0.00098	T	0.386661	0.09517	T	.	.	.	.	.	.	.	.	-2.661	0.06981	T	.	.	0.106	0.19679	B	.	.	0.580941	0.09496	6.272	0.94220893165826891	0.24470	0.02312	0.06635	N	AEFDBHCI	.	.	.	-1.34724873685732	0.03154	0.1404045	-1.49200437831533	0.02409	0.1107612	0.999999885822986	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.567892	0.33627	0	.	.	2.49	-3.88	0.03927	-0.713000	0.05110	.	.	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0:0.1914:0.3562:0.4524	4.122	0.09582	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1364.33	37	chr19	51354520	.	T	G	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.978;SOR=0.767	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1378,0,1429	18	0	1	0
chr19	52929375	52929375	G	A	exonic	ZNF816-ZNF321P	.	nonsynonymous SNV	ZNF816-ZNF321P:NM_001202473:exon4:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00224166844007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.71	0.00734	T	-5.25	0.84035	D	0.084	0.06059	-0.9298	0.44168	T	0.008	0.02760	T	9	0.100819826	0.18384	T	0.002242	0.04260	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.047750249510487924	0.04718	0.0223998894145	0.02255	.	.	.	.	.	.	-0.346072	0.04979	T	-0.734885	0.04109	T	0.241982221603394	0.22510	T	0.139386	0.01113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27998	B	.	.	0.156458	0.05477	1.944	0.94270423292361316	0.24557	0.00411	0.02041	N	AEFBI	0.021536	0.00969	N	-1.06654605888304	0.07267	0.3370535	-1.19598358634758	0.05976	0.2863228	9.35738495920128E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	1.5	0.371	0.15400	-1.211000	0.03106	.	.	-0.333000	0.05756	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.57:0.4299	5.971	0.18590	994	0.00715	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	.	.	.	.	.	.	.	.	0.02632	5489.33	33	chr19	52929375	.	G	A	5489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=1094;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.773;SOR=0.525	GT:AD:DP:GQ:PL	0/1:167,213:380:99:5503,0,4370	18	0	1	0
chr19	53115309	53115309	T	C	exonic;splicing	ZNF415;ZNF415	NM_001330766:exon6:c.183-2A>G;NM_001352134:exon5:c.183-2A>G;NM_001352133:exon5:c.183-2A>G;NM_001352140:exon4:c.75-2A>G;NM_001352132:exon5:c.183-2A>G;NM_001352138:exon4:c.75-2A>G;NM_001352139:exon4:c.75-2A>G;NM_001352141:exon4:c.75-2A>G	nonsynonymous SNV	ZNF415:NM_001352130:exon5:c.A268G:p.R90G,ZNF415:NM_001352131:exon5:c.A268G:p.R90G	.	0	225	1	0	0	1	0.00221729	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920890528	7.719e-05	5.243e-05	0.0002	0	0.0006	2.046e-05	1.067e-05	.	.	0	0.0003	0.0013	0	0	0.0006	0	0	0	2.645e-05	2.629e-05	3.879e-05	1.353e-05	1.472e-05	8.18e-06	5.17e-06	.	.	0	0	0	0.0003	0	0	0.0034	1.472e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19238	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.737903	0.00021	T	-0.931281	0.00327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	1.479345	0.19046	14.06	0.42301123561080878	0.03109	0.01044	0.03898	N	AEFBI	.	.	.	-0.784990059100999	0.13700	0.6768185	-1.03076985916515	0.09112	0.4515575	8.93015013126976E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.057018	0.00518	0	0.046875	0.06002	0.158	0.158	0.14233	0.401000	0.20673	.	.	0.266000	0.18458	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	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	723.33	33	chr19	53115309	.	T	C	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=726;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.732;SOR=0.564	GT:AD:DP:GQ:PL	0/1:25,32:57:99:737,0,572	18	0	1	0
chr19	53237198	53237198	G	C	exonic	ZNF677	.	nonsynonymous SNV	ZNF677:NM_001317998:exon5:c.C1529G:p.T510S,ZNF677:NM_001385608:exon5:c.C1529G:p.T510S,ZNF677:NM_182609:exon5:c.C1529G:p.T510S	.	.	.	.	.	.	.	.	.	.	.	3646004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000743118494315	.	.	2.474e-05	0	8.643e-05	0	0	3e-05	0	0	2.59e-05	4	154602	rs760429806	6.846e-06	6.845e-06	8.175e-06	5.505e-06	4.476e-05	3.46e-06	2.52e-06	7.42e-06	2.78e-06	2.988e-05	4.476e-05	0	0	0	0	5.4e-06	0	1.16e-05	6.576e-06	6.572e-06	1.286e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.18	0.21968	T	0.032	0.53426	D	0.763	0.43659	P	0.419	0.45047	B	0.002676	0.36137	N	0.000000	0.923712	0.27232	N	0.95	0.23787	L	1.87	0.24085	T	-2.48	0.54059	N	0.136	0.13484	-1.0709	0.09216	T	0.054	0.22770	T	10	0.19580975	0.35448	T	7.43E-4	0.00510	T	0.038	0.09825	0.398	0.42590	0.516604699598	0.51303	0.014861411201078503	0.01443	0.0565012851679	0.06243	0.343764781952	0.17000	T	0.159253	0.50262	T	-0.320021	0.06895	T	-0.521618	0.20132	T	0.28437939286232	0.24355	T	0.00589941	0.00022	T	0.14942104	0.34066	0.14812087	0.35026	0.14942104	0.34066	0.14812087	0.35025	-5.822	0.44766	T	.	.	0.187	0.41249	B	.;.	.;.	1.507050	0.19364	14.23	0.9868674071801562	0.44695	0.04395	0.09978	N	AEFBHCI	0.402098	0.47632	N	0.0183544251293541	0.42690	2.576953	-0.0131213099145411	0.39122	2.314833	0.725683121836022	0.22984	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.21	2.21	0.27042	3.095000	0.49927	.	.	0.582000	0.30178	0.934000	0.32416	0.000000	0.08366	0.709000	0.34421	0.0:0.0:1.0:0.0	10.521	0.44107	994	0.00715	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	1194.33	35	chr19	53237198	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=710;ExcessHet=0;FS=2.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.886;SOR=0.527	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1208,0,1203	18	0	1	0
chr19	54333598	54333598	C	-	exonic	LILRA4	.	frameshift deletion	LILRA4:NM_012276:exon8:c.1474delG:p.V492Wfs*52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4303.29	37	chr19	54333597	.	AC	A	4303.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=937;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.457;SOR=0.573	GT:AD:DP:GQ:PL	0/1:171,131:302:99:4317,0,5981	18	0	1	0
chr19	54939889	54939889	C	A	exonic	NLRP7	.	nonsynonymous SNV	NLRP7:NM_001127255:exon4:c.G930T:p.Q310H,NLRP7:NM_139176:exon4:c.G930T:p.Q310H,NLRP7:NM_206828:exon4:c.G930T:p.Q310H	Hydatidiform mole, recurrent, 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	882527	Hydatidiform_mole,_recurrent,_1|not_provided	MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0177949299396	0.0027	0.00119808	0.0016	0.0003	0.0012	0	0.0003	0.0025	0.0011	0.0007	0.00152	235	154602	rs145973556	0.0032	0.0032	0.0033	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0005	0.0013	0	0	0.0003	0.0009	0.0039	0.0024	0.0008	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0017	0.0033	0.0032	0.0004	0	0.0014	0	0	0.0002	0.0034	0.0037	0.0014	0.0012	0.04	0.42487	D	0.009	0.66756	D	0.971	0.57185	D	0.775	0.57058	P	.	.	.	.	1	0.08975	N	0.325	0.10370	N	-1.42	0.80645	T	-0.64	0.25770	N	0.083	0.09349	-0.6951	0.60670	T	0.324	0.69281	T	9	0.0080657005	0.00183	T	0.017795	0.39638	T	0.177	0.44549	.	.	0.688082040798	0.68541	0.22487454794169442	0.22402	0.724652031395	0.62407	0.227592587471	0.01794	T	0.046	0.27413	T	-0.472776	0.00817	T	-0.452725	0.27396	T	0.0118575157356891	0.00184	T	.	.	.	0.13222423	0.30795	0.11062518	0.26677	0.13222423	0.30795	0.11062518	0.26676	-2.41	0.06797	T	.	.	0.168	0.39151	B	.;.;.;.;.	.;.;.;.;.	0.585194	0.09539	6.313	0.99188373032274202	0.54906	0.07550	0.13563	N	AEFDBI	0.076177	0.15318	N	-0.540121754866793	0.20795	1.098878	-0.783873777804265	0.14890	0.780386	0.00325331271741938	0.10018	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	1.77	0.721	0.17373	0.011000	0.13162	.	.	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.8286:0.0:0.1714	6.292	0.20274	912	0.21483	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2252.33	176	chr19	54939889	.	C	A	2252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.93;DP=1994;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.51;MQRankSum=-1.192;QD=16.81;ReadPosRankSum=-0.869;SOR=0.637	GT:AD:DP:GQ:PL	0/1:56,78:134:99:2266,0,1651	18	0	1	0
chr19	55056679	55056679	C	A	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon3:c.G314T:p.R105L,RDH13:NM_138412:exon4:c.G101T:p.R34L	.	.	.	.	.	.	.	.	.	.	.	2363526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.155883926499	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs144942284	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0002	2.282e-05	2.032e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	0	0	0	2.428e-05	8.279e-05	0	7.886e-05	7.875e-05	6.427e-05	9.413e-05	0.0002	4.497e-05	3.513e-05	4.732e-05	3.049e-05	0.0001	0	0.0001	0	0.0002	0	0.0068	2.941e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.911	0.50336	P	0.488	0.47288	P	0.003361	0.35069	N	0.203527	0.801548	0.34518	D	1.805	0.47535	L	-2.32	0.87830	D	-6.61	0.92086	D	0.711	0.71410	0.244	0.86653	D	0.585	0.85118	D	10	0.6766619	0.71031	D	0.155884	0.83674	D	0.453	0.75279	0.617	0.75116	0.898635335558	0.89762	0.6702900507608593	0.66967	0.321015986197	0.34303	0.362669289112	0.19775	T	0.509608	0.82636	D	-0.0863088	0.38685	T	-0.0770396	0.65121	T	0.440810024738312	0.30459	T	.	.	.	0.550502	0.69984	0.5022767	0.71228	0.550502	0.69985	0.5022767	0.71229	-11.937	0.87498	D	.	.	0.532	0.67969	A	.;.;.;.	.;.;.;.	4.385368	0.67628	25.1	0.99720714895713092	0.82054	0.89584	0.50142	D	AEFDBCI	0.515785	0.54260	D	0.232941281649984	0.52800	3.452113	0.147884273798393	0.47030	2.939469	0.556106249080649	0.21375	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.42	2.26	0.27418	4.748000	0.61842	.	.	0.583000	0.30283	1.000000	0.71638	0.994000	0.32194	0.227000	0.22653	0.0:0.6795:0.0:0.3205	5.754	0.17432	982	0.03397	.;.;.;.	.	.	.	.	.	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	1964.33	33	chr19	55056679	.	C	A	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=1066;ExcessHet=0;FS=3.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.224;SOR=0.486	GT:AD:DP:GQ:PL	0/1:124,95:219:99:1978,0,2869	18	0	1	0
chr19	55202293	55202293	C	G	exonic	PTPRH	.	nonsynonymous SNV	PTPRH:NM_001161440:exon4:c.G382C:p.E128Q,PTPRH:NM_002842:exon6:c.G916C:p.E306Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2386951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00666893478217	0.0003	0.000199681	0.0003	0.0002	0.0006	0	0	0.0004	0	0	0.0002975	46	154602	rs140788530	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0007	5.974e-05	0.0006	0.0051	0	0	0.0017	0.0002	0.0011	0	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	9.62e-05	0	0.0008	0.0069	0	0	0.0068	0.0002	0.0014	0	0.204	0.20078	T	0.494	0.17064	T	0.599	0.39298	P	0.472	0.46817	P	.	.	.	.	1	0.08975	N	2.36	0.67893	M	0.36	0.57880	T	-1.26	0.33998	N	0.034	0.01068	-0.9792	0.35186	T	0.150	0.47717	T	9	0.005674422	0.00126	T	0.006669	0.17614	T	0.090	0.26093	.	.	0.115124310173	0.11017	0.13223295698840476	0.13148	0.307902338181	0.33085	0.354240685701	0.18544	T	0.003832	0.03242	T	-0.533459	0.00366	T	-0.663504	0.08032	T	0.0408886828360323	0.03853	T	0.39686	0.13745	T	0.049129955	0.08673	0.09028834	0.21163	0.049129955	0.08673	0.09028834	0.21163	-8.071	0.61553	D	.	.	0.136	0.29697	B	.;.	.;.	-0.071030	0.03818	0.813	0.96212672084771622	0.29060	0.06160	0.12142	N	AEFDGBHCI	0.085337	0.17298	N	-0.62072511544085	0.18322	0.9503258	-0.801890464118261	0.14450	0.7550523	0.968432650099959	0.29052	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	3.89	0.33	0.15169	-0.662000	0.05404	-5.295000	0.01772	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4392:0.4431:0.1177	6.019	0.18847	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002643	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3738.33	40	chr19	55202293	.	C	G	3738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.21;DP=1106;ExcessHet=0;FS=0.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0.94;QD=13.64;ReadPosRankSum=1.84;SOR=0.756	GT:AD:DP:GQ:PL	0/1:141,133:274:99:3752,0,3827	18	0	1	0
chr19	55228701	55228701	C	A	exonic	TMEM86B	.	nonsynonymous SNV	TMEM86B:NM_173804:exon1:c.G41T:p.C14F	.	328	1175	17	2	0	21	0.00885702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00639173730554	0.0037	0.00159744	0.0035	0.0018	0.0014	0	0.0055	0.0047	0.0050	0.0021	0.00326	504	154602	rs149958597	0.0050	0.0050	0.0050	0.0049	0.0057	0.0049	0.0048	0.0056	0.0056	0.0008	0.0023	0.0005	0	0.0041	0.0033	0.0057	0.0039	0.0030	0.0035	0.0035	0.0036	0.0035	0.0056	0.0033	0.0032	0.0051	0.0050	0.0012	0	0.0031	0	0	0.0041	0	0.0056	0.0024	0.0012	0.758	0.03502	T	0.802	0.04041	T	0.0	0.02946	B	0.0	0.01387	B	0.088901	0.02434	N	1.970240	1	0.08975	N	-0.28	0.03718	N	2.06	0.20523	T	0.32	0.03955	N	0.079	0.05414	-1.0348	0.18920	T	0.013	0.04985	T	10	0.0042171776	0.00084	T	0.006392	0.16812	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.16901857114886204	0.16821	0.00619719198121	0.00543	0.278465747833	0.07279	T	0.009489	0.08636	T	-0.675384	0.00051	T	-0.739612	0.03907	T	3.0249240399248e-05	0.00000	T	0.272073	0.04599	T	0.030362817	0.02687	0.06251903	0.12243	0.030362817	0.02687	0.06251903	0.12242	-3.731	0.19776	T	.	.	0.065	0.02012	B	.	.	-0.527777	0.01779	0.137	0.7645789105506291	0.11476	0.02220	0.06460	N	AEFDGBHCI	0.032668	0.03732	N	-1.36970078342611	0.02926	0.1299374	-1.36720479510511	0.03607	0.1686091	0.999999999971008	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.39	-2.03	0.06959	-0.563000	0.06034	-0.031000	0.12795	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3614:0.1536:0.3614:0.1236	2.220	0.03727	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006061	0.010204	0.001362	0.008772	0.000000	0.008621	0.015337	0.003788	0.02632	548.33	47	chr19	55228701	.	C	A	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=731;ExcessHet=0;FS=2.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.366;SOR=0.384	GT:AD:DP:GQ:PL	0/1:30,24:54:99:562,0,718	18	0	1	0
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	1/1:0,77:77:99:.:.:3427,238,0:.	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	1/1:0,77:77:99:.:.:3427,238,0:.	0	15	4	0
chr19	57874346	57874346	T	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.A1044C:p.E348D	.	428	1091	2	0	1	3	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000842017374802	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1170651881	1.178e-05	1.71e-05	8.265e-06	1.535e-05	0.0002	7.18e-06	5.87e-06	5.81e-06	4.59e-06	0	2.39e-05	0	2.569e-05	1.907e-05	0.0002	1.089e-05	0	1.19e-05	6.585e-05	0.0001	6.438e-05	6.74e-05	0.0002	3.524e-05	2.622e-05	3.254e-05	1.918e-05	9.671e-05	0	6.558e-05	0	0.0002	0.0002	0	2.943e-05	0	0	0.046	0.40573	D	0.003	0.76473	D	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999954	0.19072	N	0.99	0.25021	L	2.21	0.18414	T	0.26	0.04380	N	0.091	0.06990	-0.9971	0.30728	T	0.023	0.09923	T	9	0.053892136	0.05653	T	8.42E-4	0.00713	T	0.019	0.03383	0.479	0.55823	0.0482279557977	0.04254	0.004196378476831598	0.00393	0.0281334713111	0.02891	0.329949259758	0.14926	T	0.019974	0.15809	T	-0.383135	0.02976	T	-0.788123	0.02216	T	0.0824611163883359	0.10300	T	0.0463954	0.00329	T	0.056400675	0.11092	0.050185557	0.07825	0.056400675	0.11092	0.050185557	0.07825	-0.6	0.00648	T	.	.	0.322	0.54631	B	.	.	0.931693	0.13072	9.573	0.97490465022443085	0.34240	0.17345	0.19797	N	AEBHCI	0.135837	0.25630	N	-1.1335400649987	0.06055	0.2777207	-1.18340189432112	0.06186	0.2970036	1.52089203290548E-4	0.05650	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	2.01	0.932	0.18591	-1.172000	0.03220	.	.	-0.571000	0.04782	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.152:0.0:0.848	5.802	0.17682	982	0.03397	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	2349.33	74	chr19	57874346	.	T	G	2349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=1595;ExcessHet=0;FS=8.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.14;MQRankSum=2.21;QD=6.45;ReadPosRankSum=4.52;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,110:364:99:0|1:57874346_T_G:2363,0,7414:57874346	18	0	1	0
chr20	2655369	2655369	A	G	exonic	NOP56	.	nonsynonymous SNV	NOP56:NM_006392:exon6:c.A614G:p.N205S	Spinocerebellar ataxia 36, Autosomal dominant	0	1500	22	0	0	22	0.00727995	.	.	.	2827047	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0114594390754	0.0002	0.000998403	0.0009	0	0.0002	0	0	0.0005	0	0.0047	0.000815	126	154602	rs138832466	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0044	0.0001	0.0002	0.0056	5.038e-05	0	0.0042	7.914e-05	0.0010	0.0049	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0004	0.0043	0.0037	2.407e-05	0	0.0002	0.0040	0.0002	0	0.0068	0.0003	0.0009	0.0060	0.614	0.05404	T	1.0	0.04686	T	0.015	0.17086	B	0.048	0.24975	B	0.017468	0.27716	N	0.410849	0.999673	0.20721	N	0.315	0.10303	N	-1.56	0.81815	D	0.0	0.07008	N	0.089	0.06720	-0.9382	0.42900	T	0.252	0.62131	T	10	0.010513991	0.00234	T	0.011459	0.29107	T	0.130	0.35528	.	.	0.258436476835	0.25460	0.18245670462505426	0.18164	0.197761165216	0.22142	0.428429752588	0.28994	T	0.056473	0.30297	T	-0.486148	0.00682	T	-0.470553	0.25457	T	0.0145655771288582	0.00298	T	0.931607	0.74555	D	0.037675794	0.04875	0.0235069	0.00364	0.035200875	0.04098	0.024641378	0.00487	-1.086	0.01099	T	.	.	0.044	0.02927	B	.;.	.;.	1.857764	0.23599	16.08	0.7672857164349618	0.11585	0.73387	0.35898	D	AEFDBHCI	0.251288	0.37118	N	-0.498447047202411	0.22132	1.179593	-0.316511520986136	0.27565	1.530454	0.999999163192992	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.69	2.27	0.27501	1.913000	0.39587	2.658000	0.33861	0.756000	0.94297	0.792000	0.29619	0.909000	0.28100	0.945000	0.48827	0.6084:0.163:0.2286:0.0	4.508	0.11304	764	0.49969	Nop domain|NOSIC;Nop domain|NOSIC	.	.	.	.	.	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	0.005051	0.002717	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2108.33	37	chr20	2655369	.	A	G	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=811;ExcessHet=0;FS=7.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.267;SOR=0.784	GT:AD:DP:GQ:PL	0/1:71,77:148:99:2122,0,1836	18	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V,SLC4A11:NM_001174089:exon8:c.C893T:p.A298V,SLC4A11:NM_001174090:exon8:c.C1022T:p.A341V,SLC4A11:NM_001363745:exon8:c.C893T:p.A298V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	350834	Corneal_dystrophy|not_specified|not_provided|Corneal_dystrophy-perceptive_deafness_syndrome	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05263	4521.83	220	chr20	3231385	.	G	A	4521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.579;DP=1079;ExcessHet=0.119;FS=5.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.174;SOR=0.699	GT:AD:DP:GQ:PL	0/1:69,87:156:99:2184,0,1537	17	0	2	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:88,36:143:52:52,0,1472	3	0	14	2
chr20	21136493	21136493	C	T	exonic	KIZ	.	nonsynonymous SNV	KIZ:NM_001352434:exon3:c.C256T:p.R86C,KIZ:NM_018474:exon3:c.C256T:p.R86C	Retinitis pigmentosa 69, Autosomal recessive	448	1067	5	2	0	9	0.00419972	.	.	.	742282	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0005	0.000399361	0.0007	0.0002	0.0006	0	0	0.0009	0.0067	0.0009	0.0003687	57	154602	rs199937464	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	0.0004	0.0006	0.0050	0	0	0.0040	0.0001	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0.0001	0	0.0005	0.0055	0	0	0.0068	0.0001	0.0005	0.0015	.	.	.	0.101	0.38596	T	0.025	0.19245	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.003368169	0.00059	T	.	.	.	.	.	.	.	0.275641507738	0.27180	0.04894602974604036	0.04837	.	.	0.190180450678	0.00228	T	0.074629	0.34984	T	-0.394685	0.02508	T	-0.446133	0.28124	T	.	.	.	0.232977	0.03169	T	0.07974816	0.18237	0.075108886	0.16502	0.08777786	0.20452	0.0722114	0.15551	-5.925	0.45647	T	.	.	0.104	0.18869	B	.	.	-0.163469	0.03281	0.563	0.80190317401827749	0.13086	0.05661	0.11576	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99998864965147	0.51787	0.262962	0.04601	0	0.266259	0.04867	1	0.292756	0.05521	0	0.330827	0.05736	0	0.385818	0.37277	5.53	1.36	0.21139	-2.301000	0.01218	-0.529000	0.08646	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.109000	0.18697	0.0:0.4738:0.2405:0.2857	5.686	0.17075	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.006793	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1358.33	33	chr20	21136493	.	C	T	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=747;ExcessHet=0;FS=3.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.584;SOR=0.93	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1372,0,1605	18	0	1	0
chr20	31908595	31908595	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001008409:exon5:c.G211A:p.G71R	.	428	1035	57	2	0	61	0.0286251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0053	0.0081869	0.0086	0.0010	0.0063	0.0001	0.0011	0.0086	0.0159	0.0214	0.0083375	1289	154602	rs184016363	0.0079	0.0080	0.0073	0.0085	0.0354	0.0078	0.0077	0.0315	0.0299	0.0018	0.0083	0.0189	5.04e-05	0.0012	0.0354	0.0071	0.0093	0.0219	0.0078	0.0079	0.0074	0.0083	0.0211	0.0075	0.0073	0.0192	0.0185	0.0015	0.0450	0.0211	0.0181	0	0.0007	0.0238	0.0086	0.0114	0.0176	0.487	0.08067	T	0.483	0.11795	T	0.923	0.51194	P	0.718	0.54779	P	0.086298	0.20595	U	0.329934	0.998888	0.45620	D	1.65	0.42232	L	3.88	0.03570	T	-2.21	0.49684	N	0.455	0.52829	-1.1231	0.02144	T	0.021	0.08686	T	10	0.0056295395	0.00125	T	.	.	.	0.140	0.37593	0.441	0.49648	0.395143324098	0.39128	0.5826443019191341	0.58193	0.448885401441	0.44700	0.709771215916	0.68561	T	0.028686	0.20722	T	-0.455574	0.01047	T	-0.410257	0.32195	T	0.0197168962272677	0.00673	T	0.936106	0.76057	D	0.16107745	0.36092	0.1941582	0.43024	0.16107745	0.36091	0.1941582	0.43023	-13.923	0.92804	D	.	.	0.523	0.65607	A	.;.	.;.	4.893081	0.80360	27.3	0.99869920406664692	0.94726	0.98532	0.83788	D	AEFDBI	0.916601	0.88303	D	0.525809447681056	0.68622	5.242455	0.570445247355899	0.72829	5.872178	0.999999999912735	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.307000	0.89885	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	15.387	0.74430	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.020202	0.029891	0.032164	0.100000	0.017241	0.012195	0.018939	0.02632	1044.33	33	chr20	31908595	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.566;SOR=0.77	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1058,0,912	18	0	1	0
chr20	34105446	34105446	A	G	exonic	EIF2S2	.	nonsynonymous SNV	EIF2S2:NM_001316363:exon2:c.T115C:p.S39P,EIF2S2:NM_001316364:exon2:c.T115C:p.S39P,EIF2S2:NM_003908:exon2:c.T115C:p.S39P	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00384290618151	0.0005	0.000998403	0.0009	0	8.651e-05	0	0	0.0003	0.0022	0.0053	0.0007374	114	154602	rs202098007	0.0004	0.0004	0.0003	0.0005	0.0051	0.0004	0.0004	0.0047	0.0046	5.975e-05	0	0	0	0	0.0031	7.374e-05	0.0007	0.0051	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0060	0.299	0.14546	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.01387	B	0.005289	0.32928	N	0.299259	0.931606	0.27042	N	1.56	0.39490	L	0.89	0.45636	T	-0.15	0.09297	N	0.153	0.15749	-1.0535	0.13440	T	0.028	0.11971	T	10	0.005823344	0.00130	T	0.003843	0.08992	T	0.056	0.15993	.	.	0.318133320967	0.31420	0.04148595741450811	0.04093	0.903404305947	0.70735	0.531164109707	0.43198	T	0.065608	0.32732	T	-0.552839	0.00280	T	-0.565249	0.15888	T	0.0436916384449157	0.04364	T	0.689731	0.29897	T	0.17726885	0.38684	0.17549285	0.40019	0.17726885	0.38684	0.17549285	0.40019	-3.811	0.20969	T	.	.	0.071	0.03849	B	.	.	3.308750	0.45458	22.1	0.98887998199525562	0.47948	0.91818	0.54329	D	AEFBI	0.406841	0.47917	N	-0.436782436614691	0.24191	1.304431	-0.119855395727795	0.34591	1.991429	0.999998982778834	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	3.257000	0.51201	7.924000	0.74674	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9262:0.0:0.0738:0.0	10.321	0.42946	144	0.94257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1633.33	35	chr20	34105446	.	A	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.925;DP=793;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-1.552;QD=9.72;ReadPosRankSum=-1.232;SOR=0.779	GT:AD:DP:GQ:PL	0/1:92,76:168:99:1647,0,2272	18	0	1	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	0/1:98,44:149:99:150,0,1637	2	0	17	0
chr20	35490691	35490691	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon19:c.G745A:p.E249K,CEP250:NM_007186:exon21:c.G2641A:p.E881K	.	.	.	.	.	.	.	.	.	.	.	705449	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	.	0.0058	0.00299521	0.0045	0.0014	0.0042	0	0.0023	0.0067	0.0044	0.0013	0.0051487	796	154602	rs140439099	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0084	0.0084	0.0012	0.0062	0.0029	5.038e-05	0.0030	0.0014	0.0086	0.0070	0.0015	0.0059	0.0059	0.0061	0.0056	0.0101	0.0056	0.0054	0.0088	0.0083	0.0020	0.0088	0.0101	0.0043	0.0002	0.0026	0	0.0085	0.0076	0.0010	0.31	0.14017	T	0.345	0.17750	T	0.006	0.13644	B	0.009	0.14300	B	0.006884	0.31732	N	0.218246	1	0.08975	N	1.24	0.30952	L	2.75	0.11622	T	-1.44	0.35399	N	0.129	0.12341	-1.0156	0.25143	T	0.015	0.05946	T	10	0.0032546818	0.00056	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	0.2123187521856353	0.21147	0.161212236741	0.18198	0.312664866447	0.12310	T	0.046262	0.27370	T	-0.672853	0.00053	T	-0.728252	0.04407	T	0.00222352129367201	0.00023	T	0.737326	0.35372	T	0.03092015	0.02840	0.056623075	0.10151	0.03092015	0.02840	0.056623075	0.10151	-4.781	0.34369	T	.	.	0.070	0.03625	B	.	.	1.302749	0.17048	12.93	0.97533180136302278	0.34469	0.09396	0.15160	N	AEFDGBHCI	0.023930	0.01404	N	-0.942631973974886	0.09859	0.4684862	-0.955995994695565	0.10783	0.5453933	0.999999951128063	0.74766	0.706548	0.73137	0	0.484254	0.07192	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	4.47	0.39	0.15500	-0.027000	0.12319	2.709000	0.34221	-0.105000	0.15698	0.001000	0.13787	0.662000	0.26021	0.908000	0.44358	0.4146:0.0:0.5854:0.0	6.350	0.20574	553	0.71930	.	.	.	.	.	rs140439099	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	0.001515	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1534.33	35	chr20	35490691	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=735;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.84;SOR=1.131	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1548,0,1593	18	0	1	0
chr20	35504385	35504385	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.G4120A:p.D1374N,CEP250:NM_007186:exon30:c.G6016A:p.D2006N	.	.	.	.	.	.	.	.	.	.	.	705452	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0058	0.00299521	0.0072	0.0019	0.0083	0	0.0047	0.0103	0.0063	0.0020	0.005097	788	154602	rs61729988	0.0074	0.0074	0.0076	0.0073	0.0087	0.0073	0.0073	0.0085	0.0085	0.0013	0.0069	0.0029	5.106e-05	0.0031	0.0030	0.0087	0.0073	0.0015	0.0060	0.0060	0.0062	0.0058	0.0105	0.0057	0.0055	0.0092	0.0087	0.0022	0.0088	0.0105	0.0043	0.0002	0.0028	0.0034	0.0086	0.0076	0.0010	0.081	0.33418	T	0.15	0.56640	T	0.117	0.26519	B	0.043	0.24256	B	0.326539	0.14184	N	0.658158	0.996073	0.23122	N	1.14	0.29013	L	2.89	0.47130	T	-1.05	0.42191	N	0.209	0.23253	-1.0365	0.18388	T	0.073	0.29707	T	10	0.0037613213	0.00070	T	.	.	.	0.050	0.13987	.	.	0.505946769237	0.50232	0.16266600672197243	0.16186	0.168499253549	0.19000	0.421003639698	0.27974	T	0.031265	0.24611	T	-0.63691	0.00087	T	-0.675977	0.07231	T	0.00570501337630532	0.00062	T	0.815518	0.47040	T	0.04157345	0.06149	0.03967923	0.04115	0.030423123	0.02703	0.03967923	0.04114	-5.726	0.43924	T	.	.	0.116	0.31228	B	.;.	.;.	1.968404	0.25002	16.60	0.99603177741504267	0.74338	0.72367	0.35423	D	AEFDBIJ	0.046972	0.07860	N	-0.358405885310734	0.26965	1.475754	-0.297047835924146	0.28196	1.57013	0.816836390291296	0.24453	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.08	4.1	0.47196	1.051000	0.30027	7.212000	0.57825	0.676000	0.76740	0.824000	0.30046	1.000000	0.68203	0.017000	0.10941	0.2803:0.0:0.7197:0.0	5.963	0.18545	542	0.72843	.;.	.	.	.	.	rs61729988	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	0.002525	0.015464	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1130.33	40	chr20	35504385	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.11;SOR=0.741	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1144,0,690	18	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	198.74	34	chr20	37007453	.	C	G	198.74	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.541;DP=1201;ExcessHet=0.7564;FS=109.594;InbreedingCoeff=-0.1229;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.19;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,22:119:99:.:.:133,0,2257:.	15	0	4	0
chr20	38304245	38304245	G	A	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon1:c.G22A:p.A8T	.	406	1102	14	0	0	14	0.00631199	.	.	.	716963	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0081	0.00698882	0.0069	0.0054	0.0038	0.0005	0.0011	0.0084	0.0089	0.0101	0.0069857	1080	154602	rs5743497	0.0077	0.0077	0.0076	0.0079	0.0102	0.0076	0.0076	0.0097	0.0094	0.0045	0.0042	0.0216	0.0007	0.0013	0.0092	0.0080	0.0088	0.0102	0.0063	0.0063	0.0070	0.0056	0.0097	0.0060	0.0058	0.0075	0.0072	0.0039	0.0011	0.0060	0.0222	0.0017	0.0008	0.0102	0.0080	0.0071	0.0097	0.545	0.06691	T	0.537	0.09863	T	0.062	0.23277	B	0.003	0.08700	B	0.061062	0.02140	N	2.211740	1	0.08975	N	0.55	0.14455	N	3.39	0.05710	T	0.0	0.07008	N	0.076	0.05037	-1.0360	0.18544	T	0.016	0.06377	T	10	0.002578646	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.1504349732716615	0.14965	0.0492439977467	0.05390	0.307105183601	0.11470	T	0.00367	0.03081	T	-0.579439	0.00194	T	-0.597566	0.13015	T	0.00162650966282225	0.00016	T	0.327667	0.06803	T	0.019394329	0.00469	0.036609415	0.03143	0.019394329	0.00469	0.036609415	0.03142	-4.186	0.26548	T	.	.	0.077	0.06571	B	.	.	-0.762796	0.01182	0.057	0.83290036584568072	0.14644	0.01710	0.05428	N	ALL	0.023529	0.01325	N	-1.59225000752572	0.01303	0.05676632	-1.6906482049565	0.01179	0.05306746	0.999999999946618	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	3.16	-5.03	0.02751	-0.692000	0.05228	-1.127000	0.06250	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6495:0.0:0.3505:0.0	9.680	0.39230	857	0.34089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013595	0.005051	0.027174	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	793.33	63	chr20	38304245	.	G	A	793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1059;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.145;SOR=0.48	GT:AD:DP:GQ:PL	0/1:38,31:69:99:807,0,842	18	0	1	0
chr20	43702793	43702793	G	A	exonic	MYBL2	.	nonsynonymous SNV	MYBL2:NM_001278610:exon7:c.G1183A:p.A395T,MYBL2:NM_002466:exon8:c.G1255A:p.A419T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00379637737055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.644	0.07316	T	0.022	0.18677	B	0.01	0.14941	B	0.001018	0.40652	N	0.279063	0.891905	0.35971	D	-1.245	0.00777	N	2.53	0.14038	T	-0.61	0.18042	N	0.047	0.01911	-0.9934	0.31722	T	0.013	0.04843	T	10	0.04217893	0.02942	T	0.003796	0.08837	T	0.029	0.06676	0.284	0.24121	0.117191471859	0.11215	0.329660111865418	0.32879	0.265635106217	0.29118	0.476504296064	0.35576	T	0.119955	0.44186	T	-0.32935	0.06161	T	-0.710865	0.05250	T	0.421204596757889	0.29734	T	0.765223	0.40183	T	0.03325931	0.03508	0.043986235	0.05596	0.03325931	0.03508	0.043986235	0.05595	-3.225	0.13776	T	.	.	0.073	0.04640	B	.;.	.;.	2.660260	0.34655	19.69	0.98843815044169459	0.47169	0.77078	0.37859	D	AEFDGBCI	0.174247	0.30136	N	-0.556930206968242	0.20267	1.067151	-0.362393598084514	0.26129	1.441221	0.00122397220565416	0.08353	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.99	2.65	0.30588	1.743000	0.37883	4.812000	0.45049	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.905000	0.44082	0.4182:0.0:0.5818:0.0	4.802	0.12668	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2602.33	51	chr20	43702793	.	G	A	2602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.149;DP=840;ExcessHet=0;FS=2.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=2.61;SOR=0.511	GT:AD:DP:GQ:PL	0/1:86,110:196:99:2616,0,1993	18	0	1	0
chr20	47238856	47238856	T	C	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281784:exon14:c.A2351G:p.K784R,ZMYND8:NM_001281775:exon15:c.A2567G:p.K856R,ZMYND8:NM_001281778:exon15:c.A2492G:p.K831R,ZMYND8:NM_001281783:exon15:c.A2567G:p.K856R,ZMYND8:NM_001363714:exon15:c.A2588G:p.K863R,ZMYND8:NM_001281773:exon16:c.A2507G:p.K836R,ZMYND8:NM_001363741:exon16:c.A2507G:p.K836R,ZMYND8:NM_001281772:exon17:c.A2507G:p.K836R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.137403765003	.	.	8.544e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs764584368	5.475e-06	5.472e-06	6.809e-06	4.127e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.006	0.61437	D	0.022	0.57587	D	0.997	0.77913	D	0.985	0.84481	D	0.000001	0.84330	U	0.000000	1	0.81001	D	1.1	0.28011	L	-2.23	0.87830	D	-1.63	0.39119	N	0.233	0.28849	0.658	0.92648	D	0.783	0.92624	D	9	0.29241216	0.46818	T	0.137404	0.81990	D	0.367	0.68670	0.208	0.12497	0.881380982873	0.88022	0.38487671329915346	0.38402	.	.	.	.	.	0.043359	0.26478	T	0.151748	0.69431	D	-0.0198012	0.69042	D	0.676302850246429	0.39620	D	0.926207	0.74231	D	0.26471376	0.49538	0.29487088	0.55518	0.26471376	0.49538	0.29487088	0.55517	-3.366	0.14602	T	.	.	0.131	0.39681	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106680	0.61274	24.3	0.99856427080554278	0.93548	0.95541	0.65132	D	AEFBCI	0.672606	0.63895	D	0.603998518882334	0.73426	5.964376	0.604238031960578	0.75246	6.27697	0.999955992720115	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.71	5.71	0.89031	5.043000	0.64012	2.300000	0.32012	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.657	0.76905	782	0.47442	.;.;.;.;.;.;.	.	.	.	.	.	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	2112.33	39	chr20	47238856	.	T	C	2112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.799;DP=792;ExcessHet=0;FS=2.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.359;SOR=0.494	GT:AD:DP:GQ:PL	0/1:80,81:161:99:2126,0,2329	18	0	1	0
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	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	0.005848	0.000000	0.008621	0.033537	0.015152	0.02632	1154.33	42	chr20	49096393	.	G	T	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.925;DP=747;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.348;SOR=0.588	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1168,0,1689	18	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	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	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.02632	2601.33	35	chr20	49257526	.	T	C	2601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.391;DP=1053;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.724;SOR=0.693	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2615,0,2712	18	0	1	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	0/1:45,28:73:99:.:.:136,0,611:.	4	0	11	4
chr20	53953467	53953467	G	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001366297:exon8:c.C1369T:p.R457W,BCAS1:NM_001316361:exon9:c.C1411T:p.R471W,BCAS1:NM_001323347:exon9:c.C1411T:p.R471W,BCAS1:NM_001366295:exon10:c.C1603T:p.R535W,BCAS1:NM_001366296:exon10:c.C1579T:p.R527W,BCAS1:NM_003657:exon11:c.C1645T:p.R549W,BCAS1:NM_001366298:exon12:c.C1780T:p.R594W	.	412	1090	20	0	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0002	0.00399361	0.0025	0.0003	0.0005	0.0001	0	0.0004	0	0.0162	0.0021992	340	154602	rs188012448	0.0012	0.0012	0.0007	0.0017	0.0157	0.0012	0.0012	0.0150	0.0147	0.0001	0.0006	0.0005	7.557e-05	1.872e-05	0.0071	0.0002	0.0016	0.0157	0.0010	0.0010	0.0005	0.0015	0.0210	0.0009	0.0008	0.0177	0.0165	0.0002	0	0.0004	0.0009	0.0002	0	0.0034	0.0004	0.0028	0.0210	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.97372	D	0.002761	0.36001	N	0.222730	0.670929	0.33141	D	2.28	0.64929	M	1.21	0.37230	T	-6.94	0.93440	D	0.388	0.42931	-0.5742	0.65848	T	0.261	0.63230	T	10	0.005350113	0.00117	T	.	.	.	0.210	0.50028	.	.	0.82854224837	0.82691	0.1716294766568985	0.17082	0.199979703506	0.22402	0.339065551758	0.16298	T	0.14164	0.47680	T	-0.298894	0.08764	T	-0.189143	0.55671	T	0.0607446879401988	0.07285	T	0.946905	0.79612	D	0.5574415	0.70368	0.4632254	0.68838	0.5574415	0.70369	0.4632254	0.68839	-11.287	0.81209	D	.	.	0.139	0.45036	B	.;.;.	.;.;.	4.133385	0.61874	24.4	0.99920841866352461	0.98721	0.68083	0.33669	D	AEFBI	0.655364	0.62773	D	0.456268054002504	0.64560	4.713242	0.401661854413652	0.61669	4.370221	0.999350946669149	0.39259	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.17	4.21	0.48984	0.858000	0.27500	2.821000	0.34963	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.646:0.354	11.189	0.47902	943	0.12886	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1887.33	34	chr20	53953467	.	G	A	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.6;SOR=0.733	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1901,0,1770	18	0	1	0
chr20	57659684	57659684	A	C	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon2:c.T39G:p.F13L,PMEPA1:NM_020182:exon2:c.T123G:p.F41L,PMEPA1:NM_199169:exon2:c.T18G:p.F6L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0483179926639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47320	D	0.074	0.44702	T	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.975749	0.81001	D	2.305	0.65957	M	0.35	0.58029	T	-3.86	0.83899	D	0.889	0.93370	-0.6246	0.63798	T	0.229	0.59484	T	10	0.32764465	0.50045	T	0.048318	0.63318	D	0.346	0.66769	0.277	0.23004	0.26547132957	0.26150	0.09641927489829885	0.09573	1.64433334347	0.89410	0.823511123657	0.85566	D	0.360389	0.72664	T	0.179751	0.72020	D	0.020423	0.71657	D	0.982915163040161	0.74780	D	0.887811	0.69058	D	0.32543778	0.55094	0.2581674	0.51545	0.32543778	0.55094	0.2581674	0.51544	-4.621	0.32435	T	0.2888779298514452	0.38519	0.973	0.91726	P	.;.;.;.	.;.;.;.	3.158508	0.42787	21.6	0.96506706976997692	0.30062	0.76101	0.37299	D	AEFDGBCI	0.285979	0.39848	N	-0.633794852901726	0.17936	0.9271826	-0.884982278081543	0.12450	0.6404417	0.999857459658131	0.44174	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	-6.17	0.01912	0.888000	0.27904	-0.847000	0.07194	-0.956000	0.02005	1.000000	0.71638	0.000000	0.08366	0.901000	0.43729	0.6107:0.0:0.282:0.1073	8.291	0.31119	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	34	chr20	57659684	.	A	C	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.451;SOR=0.744	GT:AD:DP:GQ:PL	0/1:46,40:86:99:1017,0,1109	18	0	1	0
chr20	62193563	62193563	G	A	exonic	MTG2	.	nonsynonymous SNV	MTG2:NM_001384347:exon2:c.G143A:p.R48H,MTG2:NM_001384348:exon2:c.G143A:p.R48H,MTG2:NM_015666:exon2:c.G143A:p.R48H	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0023	9.728e-05	8.741e-05	0.0001	0.0002	1.517e-05	0	0.0163	0.0019469	301	154602	rs557922648	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0139	0.0136	2.988e-05	2.237e-05	0	7.557e-05	1.874e-05	0.0004	1.259e-05	0.0011	0.0145	0.0004	0.0004	0.0002	0.0006	0.0133	0.0004	0.0003	0.0107	0.0097	0	0	6.534e-05	0	0	0.0002	0	0	0	0.0133	0.012	0.68238	D	0.255	0.24264	T	0.045	0.21781	B	0.002	0.06944	B	0.864000	0.08874	N	0.944907	1	0.08975	N	0.805	0.20218	L	2.76	0.17596	T	-0.47	0.15178	N	0.132	0.12770	-1.0083	0.27448	T	0.022	0.09467	T	10	0.0046619475	0.00098	T	.	.	.	0.089	0.25827	0.543	0.65589	0.0954503805726	0.09146	0.19073484525887935	0.18991	0.260024050309	0.28572	0.298047691584	0.10112	T	0.001984	0.01394	T	-0.590283	0.00167	T	-0.607704	0.12172	T	0.0194396315537178	0.00648	T	0.442956	0.12306	T	0.029123012	0.02357	0.028049622	0.01006	0.029123012	0.02357	0.028049622	0.01006	-5.111	0.38023	T	.	.	0.074	0.04975	B	.;.	.;.	0.526836	0.08954	5.737	0.98862823415330647	0.47493	0.06146	0.12126	N	AEFDGBI	0.071579	0.14255	N	-0.933899440234844	0.10056	0.4787814	-0.944856985311645	0.11042	0.5601414	0.998599918025851	0.37268	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.17	0.696	0.17237	0.547000	0.23007	-1.686000	0.04916	-0.108000	0.15293	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0817:0.2675:0.5043:0.1465	4.472	0.11136	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1076.33	37	chr20	62193563	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.551;DP=742;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.04;SOR=0.536	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1090,0,994	18	0	1	0
chr20	62412708	62412708	C	T	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon13:c.G1792A:p.E598K	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.00339457	0.0023	9.835e-05	8.679e-05	0	0	0	0	0.0163	0.0019275	298	154602	rs374974562	0.0010	0.0010	0.0005	0.0014	0.0153	0.0009	0.0009	0.0146	0.0144	5.974e-05	0	0	0	0	0.0005	1.169e-05	0.0012	0.0153	0.0005	0.0005	0.0003	0.0007	0.0164	0.0004	0.0004	0.0135	0.0124	2.404e-05	0	0	0	0	0	0	0	0	0.0164	0.027	0.46513	D	0.447	0.13066	T	0.798	0.44840	P	0.221	0.37837	B	0.756024	0.09661	N	0.858966	1	0.08975	N	1.895	0.50365	L	1.84	0.24656	T	-1.98	0.45769	N	0.263	0.29774	-1.0841	0.06572	T	0.041	0.17700	T	10	0.003327012	0.00057	T	.	.	.	0.023	0.04649	0.185	0.09388	0.126345400529	0.12197	0.06739805915997847	0.06677	0.126919247447	0.14302	0.329344391823	0.14834	T	0.008869	0.08111	T	-0.606831	0.00132	T	-0.631474	0.10304	T	0.0161181464263504	0.00389	T	0.627737	0.24333	T	0.087395534	0.20350	0.08618613	0.19951	0.087395534	0.20349	0.08618613	0.19950	-4.372	0.29174	T	.	.	0.067	0.02488	B	.	.	1.251144	0.16477	12.57	0.99353565555249679	0.60697	0.16870	0.19586	N	ALL	0.061640	0.11797	N	-0.695739161130348	0.16142	0.8198456	-0.82093840436444	0.13988	0.7286109	0.999999999497592	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.52	2.56	0.29842	0.179000	0.16653	0.874000	0.22338	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.8668:0.0:0.1332	7.293	0.25550	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1224.33	33	chr20	62412708	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.693;DP=736;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.027;SOR=0.627	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1238,0,1166	18	0	1	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	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	0.024267	0.020408	0.029973	0.026316	0.000000	0.000000	0.015432	0.022727	0.02632	1107.33	34	chr20	62754880	.	G	A	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.141;SOR=0.846	GT:AD:DP:GQ:PL	0/1:31,35:66:99:1121,0,922	18	0	1	0
chr20	63862838	63862838	G	C	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.G1298C:p.R433P	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.00319489	0.0075	0	0.0039	0	0	0.0002	0.0076	0.0142	0.0012031	186	154602	rs369855711	0.0009	0.0010	0.0005	0.0014	0.0156	0.0009	0.0009	0.0148	0.0146	0	0	0	2.806e-05	0	0.0009	2.785e-06	0.0011	0.0156	0.0004	0.0004	0.0003	0.0006	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	1.471e-05	0	0.0139	0.091	0.31834	T	0.134	0.34241	T	0.785	0.44430	P	0.359	0.43123	B	0.020207	0.27088	N	0.335796	1	0.08975	N	2.44	0.70756	M	0.92	0.44461	T	-1.65	0.39503	N	0.451	0.48872	-1.0069	0.27881	T	0.089	0.34243	T	10	0.0059812367	0.00134	T	.	.	.	0.084	0.24469	0.367	0.37524	0.429666569261	0.42586	0.7136727065230333	0.71310	1.27094808875	0.82264	0.471149116755	0.34839	T	0.005659	0.05109	T	-0.428049	0.01523	T	-0.375315	0.36270	T	0.0545993516631287	0.06291	T	0.590841	0.21745	T	0.38560924	0.59718	0.31247407	0.57249	0.38560924	0.59719	0.31247407	0.57248	-3.561	0.17296	T	.	.	0.143	0.31355	B	.	.	2.289391	0.29282	18.07	0.93043341493089127	0.22648	0.41649	0.26704	N	AEFDGBCI	0.253995	0.37340	N	-0.109571450985956	0.36974	2.144665	-0.183010448051174	0.32160	1.826952	0.99999819068356	0.74766	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.41	3.36	0.37579	2.715000	0.46879	3.309000	0.37448	0.676000	0.76740	0.058000	0.21700	0.998000	0.33993	0.065000	0.16320	0.0855:0.1556:0.7589:0.0	8.647	0.33175	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.000000	0.000000	0.003125	0.000000	0.000000	0.000000	0.015873	0.05263	918.83	40	chr20	63862838	.	G	C	918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.268;DP=749;ExcessHet=0.119;FS=6.599;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.92;SOR=1.516	GT:AD:DP:GQ:PL	0/1:23,21:44:99:520,0,571	17	0	2	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	0/1:130,134:264:99:3400,0,3189	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	0/1:109,98:207:99:2292,0,3109	3	3	13	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5675.79	35	chr21	13615163	.	G	A	5675.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.085;DP=1039;ExcessHet=0.3672;FS=3.219;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=50.27;MQRankSum=0.711;QD=11.8;ReadPosRankSum=0.232;SOR=0.488	GT:AD:DP:GQ:PL	0/1:89,82:171:99:1993,0,2179	16	0	3	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	0/1:65,82:147:99:1885,0,1570	3	5	11	0
chr21	32274848	32274848	C	T	exonic	MIS18A	.	nonsynonymous SNV	MIS18A:NM_018944:exon2:c.G383A:p.R128H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00498472664904	.	0.000199681	1.748e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs557962061	1.027e-05	1.094e-05	4.089e-06	1.652e-05	5.81e-05	6.17e-06	4.89e-06	2.198e-05	1.433e-05	0	0	0	0	0	0	7.202e-06	3.315e-05	5.81e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.148	0.24857	T	0.067	0.44302	T	1.0	0.90584	D	0.897	0.63631	P	0.053827	0.22775	N	0.458006	0.952965	0.26420	N	1.735	0.44892	L	.	.	.	-1.25	0.31576	N	0.146	0.14763	-0.9758	0.35948	T	0.141	0.46202	T	9	0.10653967	0.19747	T	0.004985	0.12566	T	0.133	0.36157	0.279	0.23323	0.643704198215	0.64075	0.2616165216939375	0.26074	0.878278040654	0.69661	0.305462121964	0.11221	T	0.040913	0.25685	T	-0.17976	0.23772	T	-0.270288	0.47790	T	0.656301676768359	0.38734	D	0.832417	0.50060	T	0.047262456	0.08048	0.026244637	0.00704	0.047262456	0.08048	0.026244637	0.00704	-3.842	0.21433	T	.	.	0.107	0.20235	B	.	.	3.747887	0.53700	23.4	0.99884911577814517	0.96049	0.68875	0.33968	D	AEFBI	0.152484	0.27717	N	0.459590358353382	0.64747	4.736603	0.503397864006258	0.68219	5.189877	0.999991507049411	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	1.414000	0.34344	2.488000	0.32971	0.599000	0.40250	0.544000	0.27298	0.989000	0.31174	0.994000	0.71098	0.0:0.9161:0.0:0.0839	11.034	0.47008	916	0.20744	Yippee/Mis18/Cereblon|Mis18 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	0.000505	0.005155	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	827.33	37	chr21	32274848	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.795;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.767;SOR=0.706	GT:AD:DP:GQ:PL	0/1:53,39:92:99:841,0,1171	18	0	1	0
chr21	32514918	32514918	C	T	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon6:c.C733T:p.R245C,EVA1C:NM_001286556:exon8:c.C1045T:p.R349C,EVA1C:NM_001320745:exon8:c.C769T:p.R257C,EVA1C:NM_058187:exon8:c.C1054T:p.R352C	.	414	1088	20	0	0	20	0.00910747	.	.	.	2824686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.059310702192	0.0004	0.00139776	0.0013	0.0002	0.0003	0	0	0.0002	0.0044	0.0079	0.0010673	165	154602	rs140738179	0.0006	0.0006	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	5.974e-05	8.944e-05	0	0	1.873e-05	0.0056	0.0001	0.0008	0.0078	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0002	0.0047	0.0041	9.632e-05	0	0.0002	0	0	9.427e-05	0	0.0002	0	0.0064	0.003	0.68238	D	0.004	0.76473	D	0.972	0.57405	D	0.386	0.44011	B	0.833929	0.09085	N	0.932365	1	0.08975	N	2.455	0.71248	M	0.72	0.50976	T	-2.69	0.60348	D	0.162	0.24010	-0.9615	0.38897	T	0.133	0.44622	T	10	0.003971368	0.00077	T	0.059311	0.67621	D	0.125	0.34456	.	.	0.348764635752	0.34483	0.1997479735440801	0.19891	0.624057549516	0.56626	0.227707535028	0.01802	T	0.062609	0.34113	T	-0.422678	0.01645	T	-0.374234	0.36395	T	0.0331481682805986	0.02497	T	0.868713	0.57175	D	0.2716026	0.50231	0.1502797	0.35449	0.2716026	0.50231	0.1502797	0.35449	-8.344	0.63391	D	.	.	0.116	0.23465	B	.;.;.	.;.;.	2.350888	0.30139	18.34	0.99776970401835641	0.86433	0.07127	0.13153	N	AEFDBI	0.096577	0.19493	N	-0.274995800252365	0.30118	1.676358	-0.422410300280141	0.24340	1.33237	0.999979703514277	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.61	2.65	0.30588	0.670000	0.24838	1.514000	0.27045	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.039000	0.14166	0.3919:0.413:0.1266:0.0684	4.888	0.13072	840	0.37365	EVA1 domain;EVA1 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	0.003539	0.005051	0.004087	0.002924	0.000000	0.000000	0.006135	0.000000	0.05263	3361.83	42	chr21	32514918	.	C	T	3361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.61;DP=921;ExcessHet=0.119;FS=0.449;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.09;SOR=0.729	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1493,0,1774	17	0	2	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	0/1:32,14:46:99:.:.:404,0,931:.	12	0	5	2
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C,SLC37A1:NM_018964:exon16:c.A1243T:p.S415C	.	415	1060	45	2	0	49	0.0225911	.	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033233	0.005051	0.038043	0.052632	0.050000	0.077586	0.030488	0.015152	0.02632	2422.33	42	chr21	42565848	.	A	T	2422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.513;DP=876;ExcessHet=0;FS=2.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.674;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,96:156:99:1|0:42565845_G_A:2436,0,2231:42565845	18	0	1	0
chr21	44293832	44293832	C	T	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon11:c.C1322T:p.T441M	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	1	1506	13	2	0	17	0.00561241	.	.	.	44325	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.448799035718	0.0012	0.000599042	0.0013	0.0003	0.0004	0.0001	0.0003	0.0016	0.0059	0.0024	0.0012031	186	154602	rs72650677	0.0017	0.0016	0.0016	0.0017	0.0033	0.0016	0.0016	0.0023	0.0022	0.0003	0.0007	0.0034	0	0.0002	0.0033	0.0017	0.0022	0.0026	0.0010	0.0010	0.0010	0.0011	0.0021	0.0009	0.0008	0.0013	0.0013	0.0004	0	0.0003	0.0029	0.0002	0	0	0.0016	0.0024	0.0021	0.078	0.33923	T	0.085	0.41074	T	0.974	0.57829	D	0.244	0.38795	B	0.057582	0.02099	N	2.129690	1	0.08975	N	1.24	0.30952	L	-2.29	0.87591	D	-1.79	0.42191	N	0.731	0.73195	-0.4053	0.71860	T	0.573	0.84554	D	10	0.116511256	0.21980	T	0.448799	0.94303	D	0.568	0.82403	.	.	0.972967316669	0.97267	0.31284631225330395	0.31197	0.252325852844	0.27803	0.81677043438	0.84532	D	0.434379	0.78148	T	-0.234179	0.16101	T	-0.113774	0.62309	T	0.0125261264536654	0.00207	T	0.551245	0.19007	T	0.038074777	0.05002	0.050381333	0.07897	0.044162896	0.07010	0.055548817	0.09764	-6.959	0.53734	T	.	.	0.095	0.14706	B	.	.	1.585793	0.20285	14.68	0.85568066308072865	0.15974	0.03957	0.09362	N	AEFDBI	0.092281	0.18685	N	-0.452088636365121	0.23668	1.272677	-0.650087452300313	0.18214	0.9720385	0.999943444260049	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.88	0.633	0.16883	-0.620000	0.05661	0.402000	0.18011	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.399:0.4058:0.1952:0.0	5.437	0.15786	929	0.16858	Zinc finger, PHD-type, conserved site|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004087	0.002959	0.000000	0.008621	0.009146	0.000000	0.02632	636.33	34	chr21	44293832	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.825;SOR=0.723	GT:AD:DP:GQ:PL	0/1:49,27:76:99:650,0,1201	18	0	1	0
chr21	44591533	44591533	C	T	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.G952A:p.V318M	.	385	1133	4	0	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00127366169408	0.0011	0.00139776	0.0012	0.0003	0.0030	0.0001	0	0.0015	0.0011	0.0005	0.0011578	179	154602	rs201469997	0.0013	0.0013	0.0013	0.0013	0.0038	0.0012	0.0012	0.0034	0.0032	0.0003	0.0038	0.0010	0.0001	5.617e-05	0.0037	0.0014	0.0015	0.0005	0.0015	0.0016	0.0014	0.0016	0.0056	0.0014	0.0013	0.0047	0.0043	0.0003	0	0.0056	0.0006	0.0002	9.418e-05	0.0034	0.0018	0.0028	0.0002	0.062	0.36912	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.997035	0.22815	N	.	.	.	4.85	0.01470	T	-2.05	0.47008	N	0.199	0.21969	-1.0167	0.24787	T	0.018	0.07282	T	9	0.008776188	0.00199	T	0.001274	0.01733	T	0.023	0.04649	.	.	0.165133752707	0.16062	0.050189127256008735	0.04961	1.37515071505	0.84646	.	.	.	.	.	.	-0.641187	0.00082	T	-0.688106	0.06499	T	0.0220971756142035	0.00919	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24088	B	.	.	1.534801	0.19691	14.39	0.99376316066452286	0.61671	0.04868	0.10607	N	AEFBCI	0.039670	0.05794	N	-0.306909036483904	0.28885	1.597018	-0.561187763317025	0.20508	1.105288	0.0206657111120347	0.13279	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	2.8	1.84	0.24348	-0.117000	0.10681	-3.906000	0.02460	-0.686000	0.04175	0.062000	0.21832	0.000000	0.08366	0.000000	0.00833	0.0:0.5355:0.4645:0.0	8.673	0.33323	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	0.005285	0.000000	0.004076	0.008197	0.000000	0.017241	0.006098	0.000000	0.02632	3025.33	39	chr21	44591533	.	C	T	3025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=1150;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0.243;QD=12.61;ReadPosRankSum=-0.335;SOR=0.932	GT:AD:DP:GQ:PL	0/1:127,113:240:99:3039,0,3342	18	0	1	0
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	0/1:0,175:337:99:13345,5326,4720	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	1/1:0,175:337:99:.:.:8625,606,0:.	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	1/1:0,175:337:99:.:.:8625,606,0:.	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	1/1:0,175:337:99:.:.:8625,606,0:.	12	2	3	2
chr21	44697895	44697895	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G694A:p.G232R	.	397	1124	1	0	0	1	0.000444642	.	.	.	3269619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0129800052903	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200760388	1.447e-05	1.575e-05	1.507e-05	1.387e-05	0.0002	9.3e-06	7.89e-06	2.422e-05	1.271e-05	9.14e-05	0	0.0002	5.085e-05	0	0.0002	7.23e-06	0	2.383e-05	1.315e-05	1.314e-05	0	2.693e-05	6.552e-05	2.19e-06	8.2e-07	.	.	0	0	6.552e-05	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.336	0.18232	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-0.46	0.02758	N	6.17	0.00578	T	0.23	0.04613	N	0.189	0.20660	-0.9341	0.43530	T	0.001	0.00408	T	9	0.025420725	0.00737	T	0.01298	0.32017	T	0.023	0.04649	0.265	0.21103	0.0920862733494	0.08535	0.07497492363479404	0.07433	0.320741903816	0.34277	0.225873976946	0.01676	T	1.65E-4	0.00025	T	-0.508924	0.00509	T	-0.743109	0.03761	T	0.0545329925446061	0.06279	T	0.0879912	0.00649	T	0.07165214	0.15878	0.080286875	0.18149	0.07165214	0.15878	0.080286875	0.18149	-3.798	0.20775	T	.	.	0.092	0.13456	B	.	.	1.133863	0.15208	11.67	0.8898438296722786	0.18415	0.08253	0.14206	N	AEFDBCI	0.051638	0.09141	N	-1.21371969037689	0.04800	0.217414	-1.14974041126702	0.06772	0.3271366	0.999758745447376	0.42595	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	3.58	1.72	0.23498	-3.031000	0.00701	-7.563000	0.01131	-2.955000	0.00150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2284:0.1898:0.5818:0.0	4.236	0.10079	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1741.33	38	chr21	44697895	.	G	A	1741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=1105;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.299;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,60:128:99:0|1:44697877_G_A:1755,0,1765:44697877	18	0	1	0
chr22	18126520	18126520	T	C	exonic	TUBA8	.	nonsynonymous SNV	TUBA8:NM_001193414:exon4:c.T344C:p.V115A,TUBA8:NM_018943:exon4:c.T542C:p.V181A	Polymicrogyria with optic nerve hypoplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.0927790149313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.048	0.50809	D	0.977	0.68779	D	0.953	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.36	0.98503	H	-0.5	0.70480	T	-2.72	0.58085	D	0.927	0.93135	0.654	0.92590	D	0.678	0.88862	D	10	0.91774225	0.91133	D	0.092779	0.75953	D	0.758	0.91753	0.749	0.87988	0.948175029837	0.94762	0.6416607862054335	0.64101	0.979402607938	0.73684	0.808398425579	0.83247	D	0.619739	0.88063	D	0.389947	0.89323	D	0.322355	0.89189	D	0.972470700740814	0.69713	D	0.715628	0.32820	T	0.6588933	0.75840	0.67685664	0.81022	0.6588933	0.75841	0.67685664	0.81023	-10.753	0.79899	D	.	.	0.938	0.85722	P	.;.;.	.;.;.	4.120311	0.61586	24.4	0.94851081048853303	0.25651	0.97684	0.76395	D	AEFBI	0.862638	0.78097	D	0.823946036019	0.87578	9.267169	0.679333858932609	0.80814	7.382935	0.999999599158222	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	8.017000	0.88732	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.0:1.0	15.385	0.74410	803	0.44167	.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	2478.33	33	chr22	18126520	.	T	C	2478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.586;DP=880;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.097;SOR=0.775	GT:AD:DP:GQ:PL	0/1:87,101:188:99:2492,0,2150	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	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	1/1:0,148:148:99:.:.:4604,444,0:.	2	12	5	0
chr22	20150198	20150198	C	T	exonic	CCDC188	.	nonsynonymous SNV	CCDC188:NM_001365892:exon2:c.G572A:p.G191E	.	414	1097	10	1	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00159744	0.0011	0	0	0	0	0.0025	0.0066	0.0004	0.0002199	34	154602	rs191736748	0.0006	0.0006	0.0006	0.0006	0.0037	0.0006	0.0006	0.0025	0.0021	9.501e-05	0.0008	0.0050	0	0	0.0037	0.0005	0.0009	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0004	0.0037	0	9.489e-05	0.0034	0.0007	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.40364	-0.9345	0.43470	T	0.060	0.25018	T	5	0.007802248	0.00177	T	.	.	.	.	.	.	.	0.270447802918	0.26645	0.1748343406523719	0.17402	.	.	.	.	.	0.119055	0.44032	T	-0.394972	0.02497	T	-0.428073	0.30153	T	0.0549845062196255	0.06354	T	0.562944	0.19809	T	0.09846028	0.23224	0.20199275	0.44206	0.09846028	0.23224	0.20199275	0.44205	-3.982	0.23533	T	.	.	0.327	0.55039	B	.	.	4.266667	0.64883	24.8	0.99718349505690695	0.81843	0.16819	0.19563	N	AEFDBCI	0.210961	0.33680	N	-0.119583706249933	0.36539	2.113507	-0.18910531417305	0.31936	1.812043	0.926200754932012	0.26843	0.646311	0.45356	0	0.588066	0.40923	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.47	3.47	0.38831	1.914000	0.39597	7.020000	0.57263	0.583000	0.30283	0.915000	0.31815	0.999000	0.35428	0.126000	0.19410	0.0:1.0:0.0:0.0	10.738	0.45334	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	484.33	45	chr22	20150198	.	C	T	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.962;DP=802;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.21;SOR=1.051	GT:AD:DP:GQ:PL	0/1:38,22:60:99:498,0,922	18	0	1	0
chr22	20976529	20976529	G	A	exonic	AIFM3	.	nonsynonymous SNV	AIFM3:NM_001018060:exon11:c.G1021A:p.G341S,AIFM3:NM_001146288:exon11:c.G1039A:p.G347S,AIFM3:NM_144704:exon11:c.G1021A:p.G341S	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0419417636169	0.0018	0.000399361	0.0018	0.0003	0.0019	0	0.0013	0.0027	0	0.0003	0.0016947	262	154602	rs140466618	0.0018	0.0018	0.0018	0.0017	0.0107	0.0017	0.0017	0.0086	0.0078	0.0004	0.0023	0.0088	0.0001	0.0013	0.0107	0.0017	0.0027	0.0005	0.0021	0.0021	0.0022	0.0020	0.0052	0.0019	0.0018	0.0042	0.0039	0.0003	0	0.0052	0.0115	0	0.0009	0.0238	0.0023	0.0043	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.035	0.20614	B	0.007	0.12992	B	0.000051	0.53742	D	0.128968	0.924949	0.36790	D	-0.965	0.01239	N	-1.71	0.83157	D	2.57	0.00217	N	0.403	0.46742	-0.7828	0.56144	T	0.172	0.51484	T	10	0.016161144	0.00340	T	0.041942	0.60201	D	0.297	0.61730	.	.	0.878934931939	0.87775	0.9259876992162601	0.92575	0.343672920833	0.36295	.	.	.	0.06706	0.33103	T	-0.333041	0.05884	T	-0.256714	0.49151	T	0.0109654386377297	0.00158	T	0.931507	0.77188	D	0.05989498	0.12228	0.083156005	0.19034	0.05989498	0.12228	0.083156005	0.19034	2.188	0.00043	T	.	.	0.084	0.14888	B	.;.;.;.	.;.;.;.	2.780189	0.36519	20.3	0.79921803699726912	0.12962	0.96005	0.67103	D	AEFGBI	0.843069	0.76012	D	-0.390227866624166	0.25816	1.40425	-0.181392470116568	0.32221	1.830995	0.989929584582022	0.31978	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	4.7	3.61	0.40494	6.229000	0.72245	8.480000	0.77297	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:0.0:0.6553:0.3447	9.408	0.37638	934	0.15400	FAD/NAD(P)-binding domain;.;.;FAD/NAD(P)-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	0.012588	0.000000	0.012262	0.014620	0.000000	0.017241	0.018293	0.007576	0.02632	2193.33	114	chr22	20976529	.	G	A	2193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=932;ExcessHet=0;FS=2.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.855;SOR=0.493	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2207,0,2168	18	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:99,15:114:99:332,0,4051	3	0	16	0
chr22	23894887	23894887	C	T	exonic	MIF	.	nonsynonymous SNV	MIF:NM_002415:exon2:c.C224T:p.S75F	.	0	1512	8	2	0	12	0.00395257	.	.	.	3204905	MIF-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0128166596525	0.0006	0.000399361	0.0032	0.0021	0.0039	0	0	0.0047	0.0074	0.0025	0.0006921	107	154602	rs182012324	0.0016	0.0015	0.0015	0.0016	0.0053	0.0015	0.0015	0.0038	0.0033	0.0003	0.0006	0.0005	0	0.0019	0.0053	0.0017	0.0010	0.0020	0.0013	0.0013	0.0013	0.0013	0.0020	0.0011	0.0011	0.0018	0.0016	0.0004	0	0.0005	0	0	0.0020	0.0034	0.0020	0.0014	0.0017	0.019	0.50132	D	0.045	0.49390	D	0.302	0.32608	B	0.091	0.29943	B	0.483326	0.12140	N	0.780131	0.999996	0.08975	N	2.195	0.61839	M	.	.	.	-3.05	0.62976	D	0.405	0.44570	-0.9856	0.33687	T	0.090	0.34655	T	9	0.016176522	0.00340	T	0.012817	0.31723	T	0.026	0.05648	.	.	0.380564188046	0.37663	0.4896539457470267	0.48885	1.08941836619	0.77391	0.646210491657	0.59447	T	0.759062	0.93459	D	-0.312453	0.07534	T	-0.227141	0.52049	T	0.0365827873708679	0.03083	T	0.886111	0.61235	D	0.29892302	0.52808	0.18277554	0.41226	0.29892302	0.52808	0.18277554	0.41225	-8.703	0.65765	D	.	.	0.202	0.42706	B	.	.	3.629203	0.51397	23.1	0.98603555641228913	0.43546	0.42073	0.26797	N	ALL	0.527731	0.54955	D	-0.353367447720328	0.27148	1.487204	-0.338778218081487	0.26859	1.486314	0.999999999999976	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.96	2.76	0.31527	0.658000	0.24662	3.676000	0.39452	0.537000	0.25018	0.001000	0.13787	0.727000	0.26391	0.995000	0.73285	0.1511:0.6297:0.1378:0.0814	5.354	0.15357	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003627	0.000000	0.002786	0.015060	0.000000	0.000000	0.000000	0.000000	0.05263	2389.83	46	chr22	23894887	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.723;DP=777;ExcessHet=0.119;FS=5.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.481;SOR=0.406	GT:AD:DP:GQ:PL	0/1:36,33:69:99:719,0,957	17	0	2	0
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,25:121:99:.:.:437,0,1926:.	3	0	6	10
chr22	27983498	27983498	C	T	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6169A:p.E2057K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0430936533174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.164e-07	6.84e-07	0	1.452e-06	9.276e-07	0	0	.	.	0	0	0	0	0	0	9.276e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.856	0.03610	T	0.376	0.34240	B	0.073	0.28123	B	0.001741	0.38106	N	0.255201	0.999925	0.51308	D	1.955	0.52871	M	-2.74	0.90735	D	-1.23	0.31170	N	0.386	0.42737	0.024	0.82739	D	0.533	0.82699	D	10	0.2179769	0.38426	T	0.043094	0.60807	D	0.409	0.72099	0.146	0.04941	0.47185959272	0.46814	0.4833423914607688	0.48254	.	.	0.612065076828	0.54608	T	0.031913	0.22254	T	0.122	0.66573	D	-0.0625321	0.66155	T	0.79408186674118	0.45957	D	0.964603	0.86885	D	0.16349837	0.36495	0.12567413	0.30277	0.16349837	0.36495	0.12567413	0.30277	-5.766	0.44277	T	.	.	0.135	0.29422	B	.;.	.;.	3.495695	0.48878	22.7	0.99788987289798847	0.87484	0.98723	0.86031	D	AEFDBI	0.726267	0.67499	D	-0.0599922872554122	0.39158	2.304669	0.0308910044784763	0.41158	2.468003	0.999902893327491	0.45458	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.62	2.26	0.27418	4.609000	0.60854	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.0:0.7066:0.2934:0.0	13.743	0.62343	958	0.09170	.;.	.	.	.	.	.	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	541.85	54	chr22	27983498	.	C	T	541.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.248;DP=1036;ExcessHet=0.119;FS=188.626;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=1.48;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,23:127:99:.:.:207,0,3931:.	18	0	1	0
chr22	30370855	30370855	C	T	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon5:c.C950T:p.A317V,CCDC157:NM_001318334:exon5:c.C950T:p.A317V	.	370	1148	3	1	0	5	0.00217297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0193088133658	.	0.000199681	2.662e-05	0.0001	0	0.0001	0	1.618e-05	0	0	2.59e-05	4	154602	rs546033949	1.164e-05	1.163e-05	8.177e-06	1.514e-05	0.0004	7.09e-06	5.8e-06	6.746e-05	3.274e-05	0	0	0	0	0	0.0004	3.597e-06	4.973e-05	9.281e-05	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.811e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.279	0.15561	T	0.222	0.25748	T	0.239	0.30839	B	0.038	0.23361	B	0.167215	0.17482	N	0.576604	1	0.08975	N	2.48	0.72069	M	1.09	0.39223	T	-1.02	0.26843	N	0.121	0.11197	-1.0755	0.08246	T	0.060	0.25273	T	10	0.02668956	0.00829	T	0.019309	0.41638	T	0.116	0.32463	.	.	0.124217242631	0.12060	0.1175032244188644	0.11678	0.150935704758	0.17036	0.30754750967	0.11537	T	0.002283	0.01681	T	-0.291043	0.09531	T	-0.472449	0.25253	T	0.0586722493171692	0.06957	T	0.762324	0.38756	T	0.033732396	0.03651	0.046223067	0.06395	0.033732396	0.03650	0.046223067	0.06395	-6.068	0.46844	T	.	.	0.100	0.17317	B	.;.	.;.	2.280214	0.29155	18.03	0.99484468000770643	0.67069	0.11664	0.16782	N	AEFDBCI	0.076144	0.15311	N	-0.524206453479251	0.21298	1.129329	-0.486766421460147	0.22517	1.223421	0.998550781949711	0.37186	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.93	1.14	0.19817	0.093000	0.14925	1.239000	0.25094	0.599000	0.40250	0.000000	0.06391	0.571000	0.25572	0.734000	0.35233	0.3981:0.2768:0.1048:0.2203	1.182	0.01734	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1223.33	33	chr22	30370855	.	C	T	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=703;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.102;SOR=0.864	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1237,0,708	18	0	1	0
chr22	36288923	36288923	T	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon33:c.A4574G:p.K1525R	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	1	1517	4	0	0	4	0.00131666	.	.	.	3727115	Autosomal_dominant_nonsyndromic_hearing_loss_17|Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss	MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635|MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.478	0.172413985787	.	.	2.472e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs747362893	2.737e-05	2.736e-05	1.906e-05	3.576e-05	0.0007	2.063e-05	1.816e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0007	5.396e-06	4.968e-05	0.0003	1.972e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.308	0.14111	T	0.3	0.20357	T	0.366	0.34016	B	0.278	0.40236	B	0.000000	0.84330	D	0.048244	0.999994	0.58761	D	1.17	0.29769	L	-1.87	0.84415	D	-1.28	0.32185	N	0.349	0.39052	-0.0030	0.82194	T	0.504	0.81305	D	10	0.25647336	0.43052	T	0.172414	0.84940	D	0.478	0.76946	0.473	0.54859	0.756673208091	0.75446	0.42452496747763646	0.42369	0.462158744156	0.45747	0.764038681984	0.76532	T	0.410581	0.76528	T	-0.184134	0.23124	T	-0.242593	0.50545	T	0.174324005842209	0.18869	T	0.924508	0.72366	D	0.2265724	0.45341	0.1918895	0.42672	0.2265724	0.45341	0.1918895	0.42671	-9.789	0.72638	D	0.14390640753625822	0.16397	0.121	0.25000	B	.	.	3.535447	0.49623	22.8	0.99540258660426395	0.70461	0.91882	0.54467	D	AEFDBCI	0.709379	0.66348	D	0.206304469157306	0.51504	3.331126	0.336138841805646	0.57675	3.934326	0.999998651192628	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	5.25	0.73169	5.084000	0.64294	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.456	0.75046	492	0.76569	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	969.33	34	chr22	36288923	.	T	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.14;SOR=0.718	GT:AD:DP:GQ:PL	0/1:41,37:78:99:983,0,1095	18	0	1	0
chr22	38126374	38126374	C	T	exonic	PLA2G6	.	nonsynonymous SNV	PLA2G6:NM_001004426:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001199562:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349865:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349866:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349868:exon9:c.G746A:p.R249Q,PLA2G6:NM_001349864:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349869:exon10:c.G728A:p.R243Q,PLA2G6:NM_003560:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349867:exon11:c.G890A:p.R297Q	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	413616	not_provided|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0471182130819	0.0004	.	0.0002	0.0003	0	0	0	0.0004	0	0	0.0002329	36	154602	rs139184008	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0016	2.519e-05	1.881e-05	0.0002	0.0004	0.0003	0	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.657e-05	0	0	0.0020	0	0	0	0.0004	0.0010	0	0.253	0.28026	T	0.364	0.32783	T	0.994	0.73220	D	0.787	0.76916	P	0.000958	0.40932	D	0.268963	0.990258	0.46701	D	1.635	0.41844	L	-0.02	0.62918	T	-1.06	0.31778	N	0.608	0.63204	-0.7337	0.58776	T	0.264	0.63490	T	10	0.35130855	0.51983	T	0.047118	0.62773	D	0.258	0.56959	.	.	0.829008885576	0.82739	0.3869740418479153	0.38612	0.308083265394	0.33115	0.385754734278	0.23070	T	0.135549	0.46742	T	-0.204773	0.20121	T	-0.213845	0.53327	T	0.0734766447353229	0.09130	T	0.913509	0.69206	D	0.1078109	0.25493	0.06211176	0.12101	0.1078109	0.25493	0.06211176	0.12100	-6.26	0.48405	T	0.2494021049023694	0.33764	0.093	0.13876	B	.;.;.	.;.;.	4.476773	0.69809	25.4	0.99894829766801296	0.96819	0.76964	0.37792	D	AEFBI	0.107051	0.21341	N	0.229078871002549	0.52614	3.434358	0.21365506149261	0.50604	3.250754	0.999921227522668	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	3.696000	0.54489	7.331000	0.58204	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	13.528	0.61063	364	0.84707	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1456.33	34	chr22	38126374	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=765;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.28;SOR=0.987	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1470,0,1602	18	0	1	0
chr22	40261873	40261873	G	A	exonic	TNRC6B	.	nonsynonymous SNV	TNRC6B:NM_001162501:exon4:c.G157A:p.A53T,TNRC6B:NM_015088:exon4:c.G157A:p.A53T,TNRC6B:NM_001024843:exon7:c.G265A:p.A89T	.	.	.	.	.	.	.	.	.	.	.	2414163	Global_developmental_delay_with_speech_and_behavioral_abnormalities	MONDO:MONDO:0030995,MedGen:C5543226,OMIM:619243	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.00445318458012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765835653	9.769e-06	1.779e-05	5.519e-06	1.412e-05	6.041e-05	5.67e-06	4.44e-06	1e-05	3.74e-06	6.041e-05	0	0	5.128e-05	0	0	8.266e-06	0	1.175e-05	6.572e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.152	0.43708	T	0.576	0.39340	T	0.988	0.62325	D	0.668	0.53048	P	0.000001	0.62929	D	0.056280	0.999023	0.45899	D	1.79	0.46772	L	2.56	0.13673	T	-0.16	0.22727	N	0.562	0.76666	-1.2030	0.00128	T	0.064	0.26667	T	10	0.34540975	0.51515	T	0.004453	0.10906	T	0.201	0.48592	0.123	0.02942	0.292174397486	0.28832	0.17834275956052	0.17753	0.62463084654	0.56666	0.616139173508	0.55182	T	0.016269	0.13483	T	-0.0959723	0.37090	T	-0.375634	0.36232	T	0.670507322091221	0.39360	D	0.907509	0.67274	D	0.14077714	0.32465	0.21697196	0.46345	0.14077714	0.32465	0.21697196	0.46344	-3.571	0.17438	T	.	.	0.081	0.09917	B	.;.;.;.	.;.;.;.	5.712454	0.93179	33	0.99942888784504647	0.99848	0.93771	0.59144	D	AEFDBI	0.350878	0.44417	N	0.608872817161754	0.73734	6.014947	0.670826375410627	0.80168	7.239673	0.999993684615369	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	6.526000	0.73708	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.321	0.98679	636	0.64483	.;.;.;.	.	.	.	.	.	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	1533.33	34	chr22	40261873	.	G	A	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.272;SOR=0.651	GT:AD:DP:GQ:PL	0/1:50,68:118:99:1547,0,1040	18	0	1	0
chr22	40401643	40401643	T	C	exonic	SGSM3	.	nonsynonymous SNV	SGSM3:NM_001350039:exon3:c.T58C:p.W20R,SGSM3:NM_001350040:exon3:c.T58C:p.W20R,SGSM3:NM_001350041:exon3:c.T58C:p.W20R,SGSM3:NM_015705:exon3:c.T58C:p.W20R	.	421	1090	11	0	0	11	0.00502054	.	.	.	717468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0081	0.00199681	0.0057	0.0013	0.0024	0	0.0036	0.0085	0.0033	0.0031	0.006106	944	154602	rs9611338	0.0099	0.0099	0.0101	0.0098	0.0119	0.0098	0.0097	0.0117	0.0116	0.0018	0.0026	0.0018	2.522e-05	0.0039	0.0014	0.0119	0.0095	0.0036	0.0066	0.0066	0.0075	0.0055	0.0117	0.0062	0.0061	0.0110	0.0107	0.0022	0.0011	0.0029	0.0020	0	0.0025	0.0034	0.0117	0.0066	0.0039	0.011	0.55530	D	0.165	0.30926	T	0.945	0.53279	P	0.655	0.52639	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.62	0.12988	T	-6.75	0.92692	D	0.479	0.51405	-1.1243	0.02076	T	0.060	0.25163	T	10	0.005639255	0.00125	T	.	.	.	0.195	0.47612	0.455	0.51938	0.337135696972	0.33324	0.8847486013655412	0.88442	0.735908187759	0.62974	0.790959715843	0.80589	T	0.282473	0.65522	T	-0.494434	0.00614	T	-0.471966	0.25304	T	0.0472787048177141	0.05015	T	0.59724	0.22223	T	0.7775979	0.82506	0.6529703	0.79689	0.7775979	0.82508	0.6529703	0.79690	-1.866	0.02713	T	.	.	0.741	0.74676	P	.	.	4.100340	0.61129	24.3	0.99088807285813152	0.52149	0.92541	0.55954	D	AEFGBHCI	0.715042	0.66733	D	0.525838648123911	0.68622	5.24269	0.504887910845567	0.68318	5.203652	0.999999999974548	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.45	4.42	0.52775	5.453000	0.66386	4.174000	0.42293	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.071:0.0:0.929	11.358	0.48867	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	939.33	34	chr22	40401643	.	T	C	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.745;DP=686;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.685;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,38:73:99:953,0,935	18	0	1	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|1:155,29:184:99:0|1:42128812_A_G:751,0,6402:42128812	12	0	6	1
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R,SERHL2:NM_014509:exon12:c.A827G:p.Q276R	.	428	1066	25	2	1	30	0.0134197	.	.	.	3886735	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	Likely benign	0	0	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	0.001586	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.000000	0.02632	63.33	105	chr22	42573937	.	A	G	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.468;DP=1345;ExcessHet=0;FS=3.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.51;MQRankSum=-6.851;QD=1.01;ReadPosRankSum=-3.325;SOR=1.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,8:63:77:0|1:42573913_C_T:77,0,2131:42573913	18	0	1	0
chr22	43669029	43669029	G	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.C1201G:p.Q401E,EFCAB6:NM_022785:exon16:c.C1657G:p.Q553E	.	435	1064	21	2	0	25	0.0116117	.	.	.	3547055	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00600643665542	0.0015	0.00119808	0.0021	0.0006	0.0011	0	0	0.0019	0.0044	0.0068	0.0019599	303	154602	rs142603983	0.0017	0.0017	0.0014	0.0019	0.0096	0.0016	0.0016	0.0075	0.0068	0.0003	0.0011	0.0040	5.073e-05	1.877e-05	0.0096	0.0013	0.0019	0.0075	0.0013	0.0013	0.0013	0.0012	0.0060	0.0011	0.0011	0.0043	0.0037	0.0004	0	0.0007	0.0035	0.0002	0	0.0034	0.0018	0.0009	0.0060	0.43	0.09543	T	0.022	0.57587	D	0.102	0.25827	B	0.03	0.21741	B	0.359028	0.13698	N	0.695852	0.987798	0.24480	N	2.455	0.71248	M	1.04	0.40218	T	-0.84	0.22944	N	0.259	0.36884	-1.0483	0.14875	T	0.108	0.39221	T	10	0.0059239566	0.00133	T	0.006006	0.15668	T	0.088	0.25558	.	.	0.588714669503	0.58547	0.22755316562618697	0.22670	0.117441942622	0.13232	0.344939410686	0.17173	T	0.003435	0.02839	T	-0.558226	0.00260	T	-0.570764	0.15379	T	0.013569507946063	0.00250	T	0.679332	0.28809	T	0.096601725	0.22757	0.089775704	0.21013	0.096601725	0.22756	0.089775704	0.21012	-5.902	0.45453	T	.	.	0.085	0.10111	B	.;.	.;.	2.170900	0.27664	17.54	0.81263561073229329	0.13599	0.82853	0.42026	D	AEFI	0.171727	0.29872	N	-0.29548272239765	0.29323	1.625038	-0.235397199423039	0.30278	1.703392	3.41392403691261E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	3.94	0.44807	1.815000	0.38620	4.647000	0.44180	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.763000	0.36255	0.0:0.0:0.8073:0.1927	10.540	0.44215	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	0.008056	0.015152	0.002717	0.000000	0.000000	0.017241	0.009146	0.018939	0.02632	566.33	33	chr22	43669029	.	G	C	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=658;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=0.308;SOR=0.42	GT:AD:DP:GQ:PL	0/1:10,20:30:99:580,0,260	18	0	1	0
chr22	46666871	46666871	G	A	exonic	GRAMD4	.	nonsynonymous SNV	GRAMD4:NM_001366660:exon10:c.G934A:p.V312M,GRAMD4:NM_015124:exon10:c.G856A:p.V286M	.	419	1099	4	0	0	4	0.00181653	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00968416266399	.	0.000199681	0.0001	0	0	0	0	0	0	0.0011	0.00011	17	154602	rs564241063	5.686e-05	6.225e-05	3.999e-05	7.393e-05	0.0008	4.673e-05	4.294e-05	0.0006	0.0006	3.067e-05	0	0	2.59e-05	0	0.0002	7.259e-06	8.401e-05	0.0008	3.282e-05	3.28e-05	1.284e-05	5.368e-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	0.132	0.26519	T	0.36	0.16964	T	0.109	0.26142	B	0.022	0.19653	B	0.001300	0.39521	N	0.162143	0.987732	0.40641	D	1.14	0.29013	L	0.88	0.46028	T	-0.45	0.14782	N	0.22	0.24634	-1.0821	0.06946	T	0.054	0.22959	T	10	0.014816016	0.00311	T	0.009684	0.25290	T	0.045	0.12272	0.158	0.06178	0.082315109003	0.07666	0.2992128366532497	0.29834	0.592652672428	0.54645	0.321973741055	0.13721	T	0.034383	0.23298	T	-0.470375	0.00845	T	-0.51726	0.20572	T	0.0443734971137247	0.04488	T	0.875013	0.58582	D	0.035678625	0.04245	0.04834932	0.07162	0.035678625	0.04245	0.04834932	0.07161	-4.919	0.35948	T	.	.	0.075	0.05317	B	.;.	.;.	1.691974	0.21554	15.25	0.96420348976778536	0.29754	0.17852	0.20015	N	AEFDBI	0.157738	0.28329	N	-0.81628063832497	0.12895	0.6315379	-0.736570874549606	0.16054	0.847395	0.992484742868517	0.32856	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.699875	0.68795	0	.	.	4.79	3.78	0.42629	0.533000	0.22791	6.323000	0.55448	-0.104000	0.15758	0.148000	0.23625	1.000000	0.68203	0.046000	0.14843	0.1829:0.0:0.8171:0.0	8.473	0.32158	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	36	chr22	46666871	.	G	A	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=751;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.025;SOR=0.569	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1807,0,1388	18	0	1	0
chr22	50108204	50108204	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon4:c.G511A:p.E171K,MOV10L1:NM_001164105:exon4:c.G451A:p.E151K,MOV10L1:NM_018995:exon4:c.G511A:p.E171K	.	429	1086	7	0	0	7	0.00321248	.	.	.	2367252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0113951479358	0.0002	.	0.0006	9.929e-05	0.0008	0	0.0002	0.0009	0.0023	6.2e-05	0.0005304	82	154602	rs147590689	0.0005	0.0005	0.0005	0.0005	0.0184	0.0004	0.0004	0.0155	0.0145	0.0002	0.0007	0.0008	2.519e-05	0.0005	0.0184	0.0004	0.0007	6.958e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0.0006	0.0034	0.0003	0	0	0.338	0.14743	T	0.628	0.12351	T	0.209	0.29944	B	0.028	0.21332	B	0.000432	0.44522	D	0.230390	0.999943	0.51968	D	1.495	0.37439	L	1.5	0.31205	T	-1.91	0.44471	N	0.376	0.41754	-1.0882	0.05839	T	0.049	0.20789	T	10	0.04287961	0.03081	T	0.011395	0.28966	T	0.052	0.14661	.	.	0.417586769301	0.41374	0.48113192009285644	0.48033	0.113003848232	0.12758	0.551841974258	0.46117	T	0.068948	0.33586	T	-0.411469	0.01944	T	-0.463524	0.26216	T	0.0378089366859491	0.03299	T	0.824018	0.48536	T	0.10496916	0.24816	0.106903814	0.25727	0.10496916	0.24816	0.106903814	0.25726	-8.566	0.66551	D	.	.	0.130	0.37445	B	.;.;.;.	.;.;.;.	2.646161	0.34442	19.63	0.99012786510645634	0.50399	0.55225	0.29811	D	AEFBI	0.142052	0.26439	N	-0.497832587276915	0.22151	1.180802	-0.500824956574363	0.22131	1.200569	0.00758309322979938	0.11500	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.28	2.01	0.25568	3.545000	0.53401	7.611000	0.61914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1643:0.1467:0.689:0.0	6.750	0.22671	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	0.009567	0.005051	0.013587	0.029240	0.000000	0.017241	0.000000	0.000000	0.02632	1711.33	40	chr22	50108204	.	G	A	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=768;ExcessHet=0;FS=5.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.825;SOR=1.204	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1725,0,1471	18	0	1	0
chr22	50579775	50579775	T	C	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon9:c.A983G:p.Q328R	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	134179	not_provided|Megaconial_type_congenital_muscular_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.00535585406914	0.0046	0.00199681	0.0041	0.0006	0.0030	0	0.0005	0.0051	0.0088	0.0061	0.0039974	618	154602	rs141381896	0.0049	0.0049	0.0047	0.0050	0.0088	0.0048	0.0047	0.0069	0.0062	0.0010	0.0031	0.0026	7.557e-05	0.0014	0.0088	0.0053	0.0054	0.0062	0.0033	0.0034	0.0036	0.0031	0.0066	0.0031	0.0030	0.0049	0.0047	0.0008	0	0.0025	0.0026	0.0002	0.0012	0.0204	0.0054	0.0052	0.0066	0.526	0.07116	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.393601	0.04492	N	1.372900	1	0.08975	N	1.3	0.32576	L	0.43	0.56772	T	-0.62	0.18248	N	0.139	0.13769	-1.0399	0.17343	T	0.071	0.28806	T	10	0.0036141276	0.00066	T	0.005356	0.13710	T	0.042	0.11227	.	.	0.293147016451	0.28931	0.21814341777740848	0.21730	.	.	0.189679294825	0.00219	T	0.100072	0.40551	T	-0.63138	0.00094	T	-0.676959	0.07171	T	0.000577618257265074	0.00005	T	0.113289	0.00862	T	0.09625146	0.22669	0.10601321	0.25496	0.13090196	0.30530	0.094691224	0.22425	-5.268	0.39625	T	.	.	0.060	0.00919	B	.	.	0.435510	0.08059	4.781	0.69638809155130055	0.09037	0.10516	0.16001	N	AEFDBI	0.137658	0.25871	N	-1.16186174551854	0.05588	0.2551048	-1.15432138866421	0.06691	0.3229024	0.999999684092136	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	-3.32	0.04663	-0.178000	0.09775	-1.307000	0.05758	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.1536:0.5007:0.3456	8.625	0.33045	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017098	0.020202	0.013587	0.010490	0.050000	0.017241	0.030488	0.011364	0.05263	2925.83	40	chr22	50579775	.	T	C	2925.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.009;DP=954;ExcessHet=0.119;FS=4.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.204;SOR=0.949	GT:AD:DP:GQ:PL	0/1:75,58:133:99:1516,0,2056	17	0	2	0
chrX	2789667	2789667	C	T	exonic	XG	.	nonsynonymous SNV	XG:NM_001141919:exon5:c.C214T:p.R72C,XG:NM_001141920:exon5:c.C214T:p.R72C,XG:NM_175569:exon5:c.C214T:p.R72C	.	444	1075	1	2	0	5	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0229425816329	0.0028	0.0015894	0.0014	0.0068	0.0006	0	0	0.0003	0	0.0016	0.0005239	81	154602	rs147774141	0.0002	0.0003	0.0002	0.0003	0.0075	0.0002	0.0002	0.0066	0.0063	0.0075	0.0002	0	3.609e-05	0	0.0017	1.101e-05	0.0004	0.0008	0.0021	0.0022	0.0023	0.0018	0.0074	0.0019	0.0018	0.0066	0.0063	0.0074	0	0.0003	0	0	0	0	9.4e-05	0.0013	0.0004	0.027	0.46513	D	0.059	0.47581	T	0.356	0.33761	B	0.227	0.38084	B	0.971534	0.07782	U	1.015150	1	0.08975	N	1.245	0.31408	L	1.76	0.25996	T	-3.02	0.62630	D	0.16	0.16725	-0.9987	0.30283	T	0.037	0.16160	T	10	0.0047019124	0.00099	T	0.022943	0.45870	T	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10154422045795686	0.10085	0.183458669708	0.20635	0.284022599459	0.08060	T	0.10985	0.42407	T	-0.682491	0.00046	T	-0.750377	0.03471	T	0.0159813815381822	0.00380	T	0.789521	0.44603	T	0.13525632	0.31397	0.14052792	0.33494	0.13525632	0.31397	0.14052792	0.33493	-10.082	0.74597	D	.	.	0.287	0.51934	B	.;.;.;.	.;.;.;.	2.079392	0.26445	17.12	0.94029277955321378	0.24143	0.02292	0.06597	N	AEFI	.	.	.	.	.	.	.	.	.	0.998301846636807	0.36726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.26	2.26	0.27418	1.389000	0.34060	0.944000	0.22874	0.436000	0.21017	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	7.536	0.26881	1000	0.00083	.;.;.;.	.	.	.	.	.	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	0.002080	0.006803	0.000000	0.004000	0.000000	0.000000	0.004505	0.000000	0.02632	493.33	33	chrX	2789667	.	C	T	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.024;DP=583;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.769;SOR=0.483	GT:AD:DP:GQ:PL	0/1:13,22:35:99:507,0,246	18	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1176	5637.54	723	chrX	6533750	.	C	T	5637.54	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.19;DP=3635;ExcessHet=0.7564;FS=9.728;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.118;MQ=51.79;MQRankSum=-5.382;QD=3.53;ReadPosRankSum=-3.114;SOR=1.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:496,64:560:99:0|1:6533736_G_C:1111,0,20602:6533736	13	0	4	2
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	15349.3	541	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	15349.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.553;DP=3391;ExcessHet=1.3;FS=51.291;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=50.75;MQRankSum=-0.745;QD=16.7;ReadPosRankSum=3.74;SOR=1.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,149:326:99:.:.:3674,0,6737:.	14	0	5	0
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E	.	543	966	2	0	11	13	0.00103413	.	.	.	215626	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	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	0.014630	0.025974	0.005780	0.006135	0.000000	0.024691	0.030864	0.025316	0.02632	1015.34	161	chrX	6533921	.	G	C	1015.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.055;DP=1206;ExcessHet=0;FS=26.281;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=37.55;MQRankSum=0.609;QD=5.03;ReadPosRankSum=-1.419;SOR=2.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,43:202:99:0|1:6533883_T_C:1029,0,5997:6533883	18	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,20:135:68:0|1:10469688_G_A:68,0,4372:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,20:135:68:0|1:10469688_G_A:68,0,4372:10469688	8	0	10	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,20:132:77:0|1:10469688_G_A:77,0,4285:10469688	13	0	5	1
chrX	23000153	23000153	G	C	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.G96C:p.W32C	.	428	1092	1	1	0	3	0.00137174	.	.	.	2367891	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.0243229800747	.	.	0.0002	0	0.0001	0	0	0.0003	0	0.0002	0.0001811	28	154602	rs756605669	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0	8.877e-05	5.315e-05	0	0	0.0002	0.0003	0.0004	0.0011	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.176e-05	0.0002	0.0002	3.24e-05	0	0	0	0	0	0	0.0003	0	0	0.077	0.34095	T	0.174	0.30045	T	0.008	0.14655	B	0.009	0.14300	B	0.350943	0.04245	N	1.505790	1	0.08975	N	1.3	0.32576	L	2.1	0.19990	T	-1.94	0.45042	N	0.061	0.03283	-1.0122	0.26228	T	0.045	0.19478	T	10	0.045151383	0.03552	T	0.024323	0.47307	T	0.034	0.08419	0.295	0.25881	0.043077524339	0.03247	0.36709121572427394	0.36623	0.146239069055	0.16512	0.508037209511	0.39948	T	0.036452	0.24107	T	-0.575977	0.00204	T	-0.75087	0.03452	T	0.0160830980324717	0.00386	T	0.363764	0.08432	T	0.18973404	0.40527	0.1594316	0.37183	0.18973404	0.40527	0.1594316	0.37182	-3.594	0.17770	T	.	.	0.258	0.49226	B	.	.	0.375295	0.07474	4.113	0.69147008826613254	0.08880	0.05427	0.11300	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.801667796644747	0.24197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.37	-2.84	0.05408	0.112000	0.15312	-0.131000	0.11618	0.654000	0.53741	0.019000	0.19563	0.000000	0.08366	0.018000	0.11154	0.1116:0.4397:0.2384:0.2104	2.911	0.05384	974	0.05496	.	.	.	.	.	.	Uncertain significance	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	504.33	33	chrX	23000153	.	G	C	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=673;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-1.224;SOR=0.941	GT:AD:DP:GQ:PL	0/1:49,21:70:99:518,0,1326	18	0	1	0
chrX	23001675	23001675	T	C	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.T1618C:p.Y540H	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0753923207566	.	.	0.0002	0	0.0001	0	0	0.0003	0	0.0004	0.0002264	35	154602	rs201459158	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0010	0.0009	0	8.525e-05	5.161e-05	0	0	0.0002	0.0003	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.199e-05	0.0002	0.0002	3.251e-05	0	0	0	0	0	0	0.0003	0	0	0.002	0.72154	D	0.001	0.83351	D	0.994	0.66517	D	0.958	0.70027	D	0.000009	0.62929	D	0.112129	0.819716	0.28898	N	1.28	0.32218	L	-0.9	0.74896	T	-4.02	0.74269	D	0.159	0.16586	-0.2413	0.76592	T	0.465	0.79345	T	10	0.4227704	0.56975	T	0.075392	0.72277	D	0.473	0.76619	.	.	0.2419029386	0.23804	0.7790933002182185	0.77860	0.539779440403	0.51195	0.57244759798	0.49024	T	0.452842	0.79301	T	-0.270861	0.11661	T	-0.259257	0.48899	T	0.247933569009857	0.22780	T	0.962554	0.86020	D	0.77599	0.82408	0.6241414	0.78095	0.77599	0.82410	0.6241414	0.78096	-10.064	0.74294	D	.	.	0.425	0.60915	A	.	.	2.634125	0.34263	19.58	0.99638001462402292	0.76449	0.98014	0.78880	D	AEGBI	.	.	.	.	.	.	.	.	.	0.915948586917329	0.26498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	4.32	0.50899	2.331000	0.43552	4.064000	0.41610	0.644000	0.52426	0.263000	0.24978	0.627000	0.25846	0.010000	0.09038	0.0:0.0:0.0:1.0	10.885	0.46168	974	0.05496	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2562.33	33	chrX	23001675	.	T	C	2562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-1.026;SOR=0.659	GT:AD:DP:GQ:PL	0/1:70,93:163:99:2576,0,1985	18	0	1	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:42:99:1|0:24364308_TG_T:943,0,2028:24364308	9	4	1	5
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V,GAGE2A:NM_001127212:exon3:c.A122T:p.E41V,GAGE2C:NM_001472:exon3:c.A122T:p.E41V	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	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	0.006565	0.000000	0.002475	0.000000	0.000000	0.016667	0.008000	0.024194	0.05263	3185.95	36	chrX	49591237	.	A	T	3185.95	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.056;DP=1179;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0874;MLEAC=2;MLEAF=0.053;MQ=36.39;MQRankSum=1.12;QD=5.27;ReadPosRankSum=0.932;SOR=0.72	GT:AD:DP:GQ:PL	0/1:309,81:390:99:996,0,8110	17	0	2	0
chrX	54022333	54022333	A	T	exonic	PHF8	.	nonsynonymous SNV	PHF8:NM_001184896:exon4:c.T327A:p.D109E,PHF8:NM_001184897:exon4:c.T219A:p.D73E,PHF8:NM_001184898:exon4:c.T219A:p.D73E,PHF8:NM_015107:exon4:c.T219A:p.D73E	Mental retardation syndrome, X-linked, Siderius type, X-linked recessive	1	1496	17	8	0	33	0.0109091	.	.	.	508176	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0309951132734	0.0013	0.0015894	0.0022	0.0002	0.0025	0	0	0.0019	0.0079	0.0068	0.002044	316	154602	rs148664730	0.0017	0.0017	0.0015	0.0020	0.0189	0.0016	0.0016	0.0155	0.0143	0.0006	0.0021	0.0028	0	4.935e-05	0.0189	0.0014	0.0021	0.0065	0.0014	0.0015	0.0014	0.0014	0.0052	0.0012	0.0012	0.0032	0.0025	0.0002	0	0.0019	0.0038	0	0	0.0276	0.0019	0.0013	0.0052	0.088	0.32610	T	0.088	0.46182	T	0.001	0.07471	B	0.0	0.01387	B	0.491888	0.12048	N	0.794394	0.993666	0.24335	N	0.255	0.09829	N	2.21	0.23884	T	-1.66	0.44471	N	0.131	0.19325	-1.0419	0.16741	T	0.042	0.18202	T	10	0.0040727854	0.00080	T	0.030995	0.53184	D	0.074	0.21613	0.199	0.11247	0.322865848456	0.31899	0.580946209430498	0.58023	1.37391022726	0.84599	0.502101838589	0.39121	T	0.038782	0.24963	T	-0.711656	0.00031	T	-0.792271	0.02103	T	0.00737353544595738	0.00085	T	0.712229	0.32360	T	0.14701474	0.33627	0.16386506	0.37991	0.17927712	0.38990	0.19029267	0.42424	-3.694	0.19703	T	.	.	0.089	0.19478	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.129206	0.15156	11.63	0.98894565646247645	0.48073	0.23747	0.22175	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.00162234012841231	0.08719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	3.01	0.33872	-0.105000	0.10876	1.732000	0.28335	0.756000	0.94297	0.002000	0.15269	0.059000	0.21998	0.998000	0.85391	0.5629:0.34:0.0971:0.0	5.103	0.14105	17	0.98681	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.016586	0.000000	0.024119	0.015810	0.000000	0.035294	0.008850	0.010526	0.02632	2038.33	33	chrX	54022333	.	A	T	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=836;ExcessHet=0;FS=1.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.178;SOR=0.805	GT:AD:DP:GQ:PL	0/1:130,86:216:99:2052,0,3257	18	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:598,95:693:99:982,0,19555	13	0	6	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	0/1:115,592:707:99:19524,0,1391	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	0/1:667,83:750:99:291,0,20907	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	0/1:629,102:731:99:.:.:1793,0,21138:.	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	0/1:551,88:639:99:.:.:1643,0,19077:.	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	0/1:155,434:589:99:13556,0,2839	0	0	19	0
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|1:390,53:443:99:0|1:55146247_G_C:865,0,15777:55146247	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|1:370,53:423:99:0|1:55146247_G_C:925,0,15221:55146247	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	0/1:191,216:407:99:5893,0,5313	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|1:358,50:408:99:0|1:55146247_G_C:919,0,14850:55146247	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	0/1:121,186:307:99:5531,0,2769	0	0	19	0
chrX	70352640	70352640	C	T	exonic	KIF4A	.	nonsynonymous SNV	KIF4A:NM_012310:exon14:c.C1472T:p.A491V	.	11	1492	15	4	0	23	0.00764882	.	.	.	706302	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0008	0.0225166	0.0088	0.0001	0.0003	0.0874	0.0057	0.0017	0.0147	0.0066	0.0077877	1204	154602	rs2297871	0.0050	0.0050	0.0049	0.0052	0.1020	0.0049	0.0048	0.0990	0.0977	0.0003	0.0003	0.0044	0.1020	0.0064	0.0012	0.0015	0.0076	0.0074	0.0051	0.0052	0.0049	0.0055	0.0924	0.0047	0.0046	0.0842	0.0810	0.0002	0.0073	0.0058	0.0023	0.0924	0.0076	0	0.0016	0.0092	0.0070	0.362	0.11844	T	0.278	0.21812	T	0.02	0.18235	B	0.003	0.08700	B	0.123171	0.18928	N	0.480088	1	0.08975	P	1.555	0.39373	L	-0.34	0.68474	T	-0.06	0.07882	N	0.015	0.00181	-0.9869	0.33371	T	0.040	0.17149	T	9	0.0017415881	0.00022	T	.	.	.	0.088	0.25558	.	.	0.268702046668	0.26493	0.2006873508889602	0.19985	0.347339441576	0.36622	0.269424051046	0.06066	T	0.07914	0.36057	T	-0.748416	0.00018	T	-0.78188	0.02397	T	0.00545688427672883	0.00059	T	0.219778	0.02813	T	0.039525516	0.05473	0.070023075	0.14827	0.039525516	0.05472	0.070023075	0.14827	-4.387	0.29381	T	0.11158149000149556	0.09556	0.075	0.05623	B	.	.	-0.096514	0.03663	0.735	0.87098185768093639	0.16986	0.06705	0.12726	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.097319066126405	0.16276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	3.58	0.40133	-0.270000	0.08614	.	.	-1.845000	0.00577	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.0:0.7985:0.0:0.2015	7.234	0.25234	55	0.97548	.	.	.	.	.	.	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	0.004831	0.000000	0.005566	0.007905	0.071429	0.011765	0.000000	0.000000	0.02632	1088.33	33	chrX	70352640	.	C	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.039;DP=714;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.651;SOR=0.54	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1102,0,1013	18	0	1	0
chrX	91436095	91436095	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G518A:p.R173H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.226169684822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.106e-07	9.105e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.055	0.51737	T	0.997	0.70673	D	0.654	0.52604	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.955	0.52871	M	1.94	0.22678	T	-2.9	0.61722	D	0.365	0.54234	-1.0444	0.16000	T	0.084	0.32929	T	10	0.49091274	0.60986	T	0.22617	0.88032	D	0.298	0.61843	0.702	0.83869	0.83955497876	0.83802	0.7690775166847788	0.76856	1.52672906676	0.87513	0.682373046875	0.64609	T	0.140502	0.47507	T	0.0541665	0.58878	T	-0.15997	0.58354	T	0.987833738327026	0.78258	D	0.963204	0.93081	D	0.62151736	0.73844	0.35916895	0.61380	0.62151736	0.73846	0.35916895	0.61379	-7.403	0.56926	T	.	.	0.178	0.38800	B	.;.	.;.	4.872886	0.79845	27.2	0.99837039810359474	0.91800	0.97365	0.74289	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999797819	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.29	4.29	0.50359	7.850000	0.85220	10.976000	0.84567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.619	0.61593	949	0.11373	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	38	chrX	91436095	.	G	A	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=756;ExcessHet=0;FS=1.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.597;SOR=0.559	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1798,0,1309	18	0	1	0
chrX	103500108	103500108	T	C	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.A649G:p.T217A	.	0	1520	1	1	0	3	0.000985869	.	.	.	2327667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.000749242658125	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201466501	0.0006	0.0010	0.0004	0.0010	0.0046	0.0006	0.0005	0.0030	0.0025	0.0002	0.0001	0	0.0003	0.0003	0.0046	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0003	0.0007	0.0004	0.0003	0.0006	0.0005	0.0003	0	0	0	0.0003	0.0003	0	0.0007	0	0	1.0	0.00964	T	0.732	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.040445	0.24057	N	0.157981	0.999938	0.19363	N	-0.035	0.05024	N	1.04	0.40218	T	0.15	0.05310	N	0.055	0.02658	-1.0106	0.26729	T	0.028	0.11882	T	10	0.052396297	0.05268	T	7.49E-4	0.00529	T	0.045	0.12272	.	.	0.701518117412	0.69893	0.07523847369235283	0.07459	0.790129032098	0.65737	0.325451135635	0.14246	T	0.00107	0.00595	T	-0.740552	0.00020	T	-1.00938	0.00122	T	0.00820716696809511	0.00098	T	0.561944	0.19701	T	0.02895921	0.02314	0.051735375	0.08386	0.02895921	0.02313	0.051735375	0.08385	-3.439	0.15587	T	.	.	0.054	0.00382	B	.;.	.;.	-0.370680	0.02325	0.248	0.24587499384108685	0.01094	0.06076	0.12049	N	AEFGI	.	.	.	.	.	.	.	.	.	0.020826391137973	0.13294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	1.049000	0.30001	0.575000	0.19646	-0.685000	0.04181	0.969000	0.34210	0.481000	0.25102	0.082000	0.17360	0.0:0.6754:0.0:0.3246	4.462	0.11088	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2441.33	37	chrX	103500108	.	T	C	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.64;DP=808;ExcessHet=0;FS=10.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.98;MQRankSum=-12.33;QD=13.79;ReadPosRankSum=-1.946;SOR=1.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,67:177:99:0|1:103500108_T_C:2455,0,4287:103500108	18	0	1	0
chrX	103500110	103500110	C	A	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.G647T:p.S216I	.	0	1520	1	1	0	3	0.000985869	.	.	.	2318063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00113995960731	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs200647197	0.0006	0.0010	0.0004	0.0010	0.0048	0.0006	0.0005	0.0032	0.0027	0.0002	0.0001	0	0.0003	0.0003	0.0048	0.0007	0.0003	0.0005	0.0004	0.0005	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0	0	0.0003	0.0002	0	0.0007	0	0	0.377	0.11298	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	0.135365	0.02842	N	10.000100	0.999992	0.08975	N	-0.69	0.01958	N	0.84	0.47477	T	0.44	0.03243	N	0.067	0.03956	-1.0211	0.23357	T	0.058	0.24167	T	10	0.05337599	0.05519	T	0.00114	0.01410	T	0.110	0.31079	.	.	0.584859779323	0.58159	0.08681265634083288	0.08615	0.943704141384	0.72318	0.35770714283	0.19050	T	0.001953	0.01365	T	-0.684735	0.00045	T	-0.929202	0.00335	T	0.0127723858185158	0.00217	T	0.050295	0.00357	T	0.05126436	0.09387	0.06071687	0.11608	0.05126436	0.09386	0.06071687	0.11608	-5.785	0.44443	T	.	.	0.082	0.08512	B	.;.	.;.	-0.639942	0.01466	0.090	0.38936727241777819	0.02656	0.02828	0.07569	N	AEFGI	.	.	.	.	.	.	.	.	.	0.959111409780341	0.28405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	2.233000	0.42672	-1.185000	0.06085	-2.838000	0.00176	0.943000	0.32764	0.000000	0.08366	0.035000	0.13729	0.5906:0.2044:0.0:0.205	3.335	0.06682	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2441.33	37	chrX	103500110	.	C	A	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.66;DP=809;ExcessHet=0;FS=10.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.16;MQRankSum=-12.33;QD=13.79;ReadPosRankSum=-2.126;SOR=1.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,67:177:99:0|1:103500108_T_C:2455,0,4287:103500108	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	0/1:50,33:83:96:96,0,622	2	0	17	0
chrX	136345708	136345708	A	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.A2002G:p.M668V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0344652083408	9.5e-05	.	1.143e-05	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs376744701	2.732e-06	2.732e-06	4.084e-06	0	0.0005	7.3e-07	2e-07	8.525e-05	3.55e-05	0	0	0	0	0	0.0005	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.47745	D	0.414	0.14369	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.28391	T	-0.8	0.22078	N	0.039	0.11626	-1.0173	0.24592	T	0.040	0.17234	T	9	0.049836367	0.04629	T	0.034465	0.55696	D	0.016	0.02506	.	.	0.167679373172	0.16340	0.17634226892610416	0.17553	0.0346634919227	0.03646	0.313748300076	0.12473	T	0.011416	0.10189	T	-0.617641	0.00114	T	-0.932639	0.00321	T	0.0489575796277499	0.05315	T	0.487551	0.14930	T	0.20160194	0.42176	0.2163135	0.46253	0.20160194	0.42176	0.2163135	0.46252	-2.632	0.09233	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	-0.481830	0.01927	0.162	0.32364156020033141	0.01871	0.00585	0.02632	N	AEFI	.	.	.	.	.	.	.	.	.	0.989885600737135	0.31965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	-0.978	0.09754	0.228000	0.17594	0.690000	0.20754	-0.109000	0.15193	0.002000	0.15269	0.034000	0.21380	0.054000	0.15518	0.335:0.0:0.665:0.0	6.463	0.21168	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4116.33	137	chrX	136345708	.	A	G	4116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=1825;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.085;SOR=0.64	GT:AD:DP:GQ:PL	0/1:145,156:301:99:4130,0,4066	18	0	1	0
chrX	141906120	141906120	C	0	exonic	MAGEC1	.	.	.	.	500	967	15	0	40	55	0.00769625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	299.41	240	chrX	141906120	.	C	*	299.41	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.14;DP=3133;ExcessHet=0;FS=0;InbreedingCoeff=0.7378;MLEAC=1;MLEAF=0.029;MQ=55.07;MQRankSum=1.19;QD=0.77;ReadPosRankSum=1.1;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,345:388:99:1|0:141906098_CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT_C:12913,1240,296:141906098	16	0	1	2
chrX	141906120	141906120	C	G	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C716G:p.P239R	.	500	967	15	0	40	55	0.00769625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0333775	0.0110	0.0112	0.0069	0.0029	0.0063	0.0087	0.0119	0.0342	0.0010931	169	154602	rs146816736	0.0030	0.0055	0.0037	0.0015	0.0081	0.0029	0.0029	0.0074	0.0070	0.0018	0.0006	0.0007	0.0026	0.0008	0.0023	0.0032	0.0021	0.0081	0.0011	0.0026	0.0015	0.0003	0.0049	0.0010	0.0009	0.0024	0.0018	0.0012	0	0.0009	0	0.0013	0.0004	0	0.0011	0.0016	0.0049	0.004	0.65419	D	0.003	0.76473	D	0.012	0.16265	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.29	0.02462	T	-0.06	0.07882	N	0.048	0.01999	-0.9780	0.35458	T	0.015	0.06234	T	8	0.002475053	0.00037	T	.	.	.	0.031	0.07369	.	.	.	.	0.011133454461516335	0.01073	.	.	0.4584004879	0.33090	T	0.00581	0.05258	T	-0.744358	0.00019	T	-0.8326	0.01217	T	0.0024389201786882	0.00025	T	0.243776	0.03556	T	0.06806868	0.14799	0.10707688	0.25773	0.06806868	0.14799	0.10707688	0.25772	-4.954	0.36336	T	.	.	0.285	0.51746	B	.	.	0.925584	0.13005	9.511	0.83700579037824874	0.14871	0.01975	0.05977	N	AEFBCI	.	.	.	.	.	.	.	.	.	8.80099150649657E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.601000	0.05783	.	.	-2.951000	0.00151	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5025:0.0:0.4974	2.669	0.04749	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	0.131083	0.109589	0.104869	0.130435	0.071429	0.129412	0.130631	0.159574	0.02941	299.41	240	chrX	141906120	.	C	G	299.41	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.14;DP=3133;ExcessHet=0;FS=0;InbreedingCoeff=0.7378;MLEAC=1;MLEAF=0.029;MQ=55.07;MQRankSum=1.19;QD=0.77;ReadPosRankSum=1.1;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,40:388:99:1|0:141906098_CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT_C:12913,10888,10997:141906098	16	0	1	2
chrX	141906126	141906126	C	0	exonic	MAGEC1	.	.	.	.	64	97	38	6	21	71	0.204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	366.75	230	chrX	141906126	.	C	*	366.75	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.626;DP=3466;ExcessHet=0;FS=0;InbreedingCoeff=0.4804;MLEAC=2;MLEAF=0.125;MQ=55.85;MQRankSum=1.19;QD=0.95;ReadPosRankSum=1.68;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,345:388:99:1|0:141906098_CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT_C:13372,1475,360:141906098	7	0	1	11
chrX	141906803	141906803	-	AGAGT	exonic	MAGEC1	.	frameshift insertion	MAGEC1:NM_005462:exon4:c.1399_1400insAGAGT:p.H467Qfs*18	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491074505	4.771e-05	4.749e-05	2.886e-05	8.558e-05	0.0007	3.704e-05	3.354e-05	0.0002	0.0001	3.832e-05	2.889e-05	0.0004	0	0	0.0007	2.512e-05	0.0001	0.0002	2.742e-05	2.623e-05	3.867e-05	0	3.812e-05	7.29e-06	3.02e-06	6.32e-06	2.37e-06	0	0	0	0.0004	0	0	0	3.812e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2417.67	247	chrX	141906803	.	C	CAGAGT	2417.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.55;DP=2836;ExcessHet=0;FS=10.598;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.84;MQRankSum=-6.069;QD=10.79;ReadPosRankSum=2.25;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,75:224:99:0|1:141906803_C_CAGAGT:2431,0,5158:141906803	17	0	1	1
chrX	141906805	141906805	-	TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	exonic	MAGEC1	.	stopgain	MAGEC1:NM_005462:exon4:c.1401_1402insTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG:p.S468Ffs*2	.	1	164	40	20	1	81	0.196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.952e-05	0.0001	4.778e-05	0.0001	0.0007	5.693e-05	5.197e-05	0.0002	0.0001	7.643e-05	2.85e-05	0.0007	0	0	0.0007	4.41e-05	0.0002	0.0002	2.958e-05	2.716e-05	4.04e-05	0	4.013e-05	7.86e-06	4.18e-06	6.65e-06	2.49e-06	0	0	0	0.0004	0	0	0	4.013e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	37150.6	278	chrX	141906805	.	C	CTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	37150.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=3118;ExcessHet=0.0524;FS=0;InbreedingCoeff=0.3603;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-0.647;QD=18.53;ReadPosRankSum=-0.517;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,161:311:99:0|1:141906803_C_CAGAGT:5473,0,4901:141906803	18	0	1	0
chrX	151181273	151181273	G	A	exonic	GPR50	.	nonsynonymous SNV	GPR50:NM_004224:exon2:c.G1690A:p.A564T	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0141425427828	.	.	9.255e-05	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs751220560	3.644e-05	3.642e-05	2.859e-05	5.235e-05	0.0007	2.747e-05	2.418e-05	0.0005	0.0004	0	0	0	0	0	0	0	6.511e-05	0.0007	0	8.711e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.223	0.25670	T	0.01	0.15535	B	0.005	0.11217	B	0.444352	0.04778	N	1.467820	1	0.08975	N	0.55	0.14455	N	-0.8	0.73845	T	-0.1	0.08495	N	0.027	0.00571	-0.9949	0.31326	T	0.153	0.48326	T	10	0.029416174	0.01069	T	0.014143	0.34055	T	0.031	0.07369	0.195	0.10705	0.838579434231	0.83703	0.05917016903091	0.05857	0.139645380596	0.15743	0.233031019568	0.02200	T	0.040769	0.25635	T	-0.675792	0.00051	T	-0.846594	0.01004	T	0.0190763190674567	0.00615	T	0.633437	0.24778	T	0.046939902	0.07941	0.08966582	0.20981	0.046939902	0.07941	0.08966582	0.20980	-4.113	0.25481	T	.	.	0.068	0.02927	B	.	.	0.051071	0.04644	1.303	0.95216891170039242	0.26432	0.03904	0.09283	N	AEFBI	.	.	.	.	.	.	.	.	.	0.322586553721097	0.19399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.07	0.209	0.14503	-0.683000	0.05280	0.001000	0.13291	-0.389000	0.05354	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.244:0.0:0.5631:0.1929	3.771	0.08162	924	0.18029	.	.	.	.	.	.	Uncertain significance	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	0.001377	0.006803	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.02632	1781.33	39	chrX	151181273	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=1039;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.7;SOR=0.945	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1795,0,1972	18	0	1	0