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	NSWES974	WT	HH	HZ	NC
chr1	979327	979327	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1703T:p.T568M,PERM1:NM_001291366:exon2:c.C1703T:p.T568M,PERM1:NM_001369897:exon2:c.C1703T:p.T568M,PERM1:NM_001291367:exon3:c.C1361T:p.T454M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00532094477834	.	.	0.0004	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs757477287	7.914e-05	7.525e-05	5.424e-05	0.0001	0.0008	6.702e-05	6.233e-05	0.0006	0.0005	0	5.932e-05	0	0	0	0	4.31e-05	5.263e-05	0.0008	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.156	0.24090	T	0.167	0.34009	T	.	.	.	.	.	.	0.397018	0.04511	N	1.531100	1	0.08975	N	.	.	.	.	.	.	-0.71	0.20145	N	0.041	0.02759	-1.0520	0.13845	T	0.051	0.21806	T	9	0.023302764	0.00606	T	0.005321	0.13618	T	0.008	0.00669	.	.	0.0551355673512	0.04727	0.08644473561307668	0.08578	.	.	.	.	.	0.012954	0.11294	T	-0.52088	0.00435	T	-0.604016	0.12476	T	0.0878680078273102	0.10963	T	0.342666	0.08539	T	0.018268332	0.00348	0.02851552	0.01096	0.018268332	0.00348	0.02851552	0.01095	-5.333	0.43318	T	.	.	0.097	0.15921	B	.;.	.;.	-0.397952	0.02220	0.223	0.88947297739650311	0.18384	0.02512	0.07007	N	AEFDBCI	0.052499	0.09376	N	-1.95809656469967	0.00260	0.01114816	-2.11177602556695	0.00176	0.007733274	0.999999680613741	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.13	-10.3	0.00281	-1.990000	0.01568	.	.	-1.826000	0.00595	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.36:0.2907:0.2129:0.1364	2.082	0.03416	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1786.33	53	chr1	979327	.	G	A	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=1283;ExcessHet=0;FS=10.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.35;SOR=1.477	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1800,0,1563	18	0	1	0
chr1	1043594	1043594	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon9:c.G1660A:p.V554M	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	249315	Congenital_myasthenic_syndrome_8|not_provided|not_specified	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.571	.	0.0030	0.0113818	0.0088	0.0007	0.0008	0.0334	0.0296	0.0077	0.0198	0.0022	0.0079236	1225	154602	rs79016973	0.0059	0.0060	0.0059	0.0060	0.0291	0.0058	0.0058	0.0277	0.0271	0.0005	0.0017	0.0021	0.0291	0.0261	0.0016	0.0050	0.0061	0.0025	0.0072	0.0072	0.0062	0.0083	0.0328	0.0069	0.0067	0.0288	0.0272	0.0008	0.0176	0.0059	0.0023	0.0328	0.0286	0	0.0066	0.0057	0.0035	0.011	0.55530	D	0.024	0.56640	D	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	1	0.81001	D	2.05	0.56469	M	-1.22	0.78752	T	-1.87	0.43717	N	0.559	0.58373	-0.1946	0.77810	T	0.232	0.59769	T	10	0.017632931	0.00378	T	.	.	.	0.571	0.82573	.	.	0.809329034948	0.80754	0.4693898272211653	0.46857	0.496083062219	0.48129	0.591021478176	0.51638	T	.	.	.	-0.252933	0.13742	T	-0.111722	0.62474	T	0.0130821755371329	0.00229	T	0.985001	0.94819	D	.	.	.	.	.	.	.	.	-9.196	0.68949	D	.	.	0.29	0.52921	B	.;.	.;.	4.026730	0.59515	24.1	0.99877600304416003	0.95410	0.99168	0.92232	D	AEFBHI	0.883150	0.81183	D	0.720955150174758	0.81007	7.422195	0.646309942305833	0.78337	6.856	0.999999999986268	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	7.442000	0.79626	7.420000	0.58709	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0:1.0:0.0	16.849	0.85852	940	0.13648	.;Kazal domain|Factor I / membrane attack complex|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1616.33	46	chr1	1043594	.	G	A	1616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.402;DP=973;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.697;SOR=0.671	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1630,0,1235	18	0	1	0
chr1	1046562	1046562	C	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon18:c.C3077A:p.T1026N	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	249328	not_provided|not_specified|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	.	0.0028	0.0113818	0.0087	0.0008	0.0008	0.0325	0.0317	0.0076	0.0188	0.0022	0.0075937	1174	154602	rs3813188	0.0058	0.0059	0.0059	0.0058	0.0293	0.0057	0.0057	0.0279	0.0274	0.0005	0.0016	0.0021	0.0293	0.0263	0.0014	0.0048	0.0059	0.0025	0.0070	0.0071	0.0060	0.0081	0.0325	0.0067	0.0065	0.0285	0.0269	0.0007	0.0175	0.0059	0.0023	0.0325	0.0285	0	0.0063	0.0057	0.0035	0.295	0.14743	T	0.088	0.40586	T	.	.	.	.	.	.	0.822485	0.09167	N	0.898927	0.987126	0.24549	N	2.14	0.59869	M	-1.02	0.76300	T	-1.59	0.38345	N	0.272	0.38541	-0.7571	0.57562	T	0.149	0.47540	T	10	0.0045595467	0.00095	T	.	.	.	0.173	0.43840	.	.	0.84366985224	0.84217	0.20904011675854195	0.20820	0.29056830254	0.31466	0.410622000694	0.26543	T	.	.	.	-0.391647	0.02625	T	-0.311665	0.43478	T	0.0122262273158558	0.00197	T	0.816718	0.47282	T	.	.	.	.	.	.	.	.	-8.151	0.62094	D	.	.	0.130	0.27762	B	.;.	.;.	2.290118	0.29290	18.08	0.94868883354520628	0.25687	0.53594	0.29410	D	AEFBI	0.148509	0.27242	N	0.118763658584642	0.47338	2.960939	0.0122287490492074	0.40282	2.401497	0.908829381016051	0.26295	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	1.297000	0.33005	3.203000	0.36761	0.599000	0.40250	0.745000	0.29079	0.998000	0.33993	0.015000	0.10482	0.0:0.9043:0.0:0.0957	11.438	0.49327	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	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1613.33	37	chr1	1046562	.	C	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=892;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.8;SOR=0.754	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1627,0,1705	18	0	1	0
chr1	1217740	1217740	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016547:exon7:c.C956T:p.A319V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0007874129525	.	.	5.923e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs766571987	3.98e-05	3.967e-05	4.232e-05	3.726e-05	0.0005	3.123e-05	2.856e-05	0.0003	0.0003	0.0005	8.99e-05	0	2.533e-05	0	0.0003	2.071e-05	9.956e-05	4.652e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.173e-05	6.728e-05	0.0002	0.0001	0.0003	0	0.0003	0	0	0	0	2.941e-05	0	0	0.197	0.20607	T	0.209	0.26798	T	0.106	0.26037	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	2.66	0.12575	T	-0.7	0.19933	N	0.113	0.10056	-0.9780	0.35458	T	0.019	0.08173	T	8	0.032751292	0.01433	T	7.87E-4	0.00608	T	0.037	0.09474	.	.	0.21279746466	0.20884	.	.	.	.	.	.	.	.	.	.	-0.603208	0.00139	T	-0.730792	0.04292	T	0.00276323448003589	0.00029	T	0.384762	0.09420	T	.	.	.	.	.	.	.	.	-3.867	0.21809	T	.	.	.	.	.	.	.	0.347954	0.07210	3.805	0.90413320231706129	0.19674	0.02252	0.06522	N	AEFBI	0.031381	0.03347	N	-1.08371436518202	0.06943	0.3210774	-1.2540711922205	0.05071	0.2407664	0.855739796737966	0.25129	0.646311	0.45356	0	0.552637	0.17590	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.37	-2.34	0.06321	-0.234000	0.09044	-0.472000	0.08972	-0.273000	0.06669	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2768:0.3284:0.3948:0.0	2.351	0.04022	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	977.33	35	chr1	1217740	.	G	A	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=813;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.605;SOR=0.792	GT:AD:DP:GQ:PL	0/1:75,47:122:99:991,0,1879	18	0	1	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R,ATAD3A:NM_001170536:exon7:c.T493C:p.W165R,ATAD3A:NM_018188:exon7:c.T874C:p.W292R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	415	1085	22	0	0	22	0.0100365	.	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	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	0.002160	0.000000	0.004087	0.004167	0.111111	0.008621	0.003165	0.000000	0.02632	63.33	38	chr1	1520597	.	T	C	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.316;DP=958;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-14.24;QD=0.24;ReadPosRankSum=4.1;SOR=0.801	GT:AD:DP:GQ:PL	0/1:230,34:264:77:77,0,6161	18	0	1	0
chr1	1626889	1626889	G	A	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon9:c.G1280A:p.R427H,MIB2:NM_001170689:exon9:c.G935A:p.R312H,MIB2:NM_001170686:exon10:c.G1292A:p.R431H,MIB2:NM_001170687:exon10:c.G1262A:p.R421H,MIB2:NM_080875:exon10:c.G1304A:p.R435H	.	.	.	.	.	.	.	.	.	.	.	3992983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.371	0.115846093797	.	0.000399361	0.0003	0	0	0.0001	0	0	0	0.0023	0.0002523	39	154602	rs578020266	0.0001	0.0001	9.17e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	2.988e-05	0	0	0.0002	4.275e-05	0	4.498e-06	0.0002	0.0017	7.877e-05	7.873e-05	0.0001	5.37e-05	0.0008	4.492e-05	3.509e-05	0.0003	0.0002	2.405e-05	0	0	0	0.0004	0	0	1.47e-05	0.0019	0.0008	0.003	0.78490	D	0.001	0.92824	D	0.994	0.66517	D	0.863	0.61398	P	0.000004	0.62929	D	0.062767	0.999998	0.58761	D	.	.	.	1.19	0.68030	T	-4.3	0.77061	D	0.315	0.39254	0.160	0.85225	D	0.508	0.81493	D	10	0.04305017	0.03115	T	0.115846	0.79515	D	0.371	0.69016	.	.	0.776052718102	0.77399	0.6757008279118377	0.67508	0.438772722317	0.43904	0.452605366707	0.32300	T	.	.	.	-0.291618	0.09475	T	-0.19845	0.54794	T	0.148520651758167	0.16985	T	0.977802	0.94093	D	.	.	.	.	.	.	.	.	-11.861	0.85911	D	.	.	0.139	0.37596	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.503684	0.70462	25.5	0.9994617029386933	0.99901	0.98633	0.84938	D	AEFGBI	0.860576	0.77846	D	0.623442644688321	0.74659	6.170547	0.534738297534631	0.70343	5.491246	0.99999999997885	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.59	4.59	0.56297	6.367000	0.73038	7.454000	0.58989	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:0.0:1.0:0.0	16.387	0.83343	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	.	.	.	.	.	.	.	.	0.02632	2079.33	44	chr1	1626889	.	G	A	2079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=902;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.721;SOR=0.834	GT:AD:DP:GQ:PL	0/1:107,91:198:99:2093,0,2454	18	0	1	0
chr1	2321570	2321570	A	G	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_024848:exon14:c.T1307C:p.V436A	.	.	.	.	.	.	.	.	.	.	.	3563921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.206919049345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.475e-06	1.368e-06	0	3.008e-06	1.891e-06	2.5e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.891e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.002142	0.37138	N	0.000000	0.983367	0.24890	N	2.08	0.57402	M	0.08	0.61559	T	-1.45	0.35597	N	0.206	0.22870	-0.4863	0.69140	T	0.301	0.67242	T	10	0.2650335	0.43996	T	0.206919	0.87065	D	0.175	0.44197	0.181	0.08877	0.640196300337	0.63723	0.3266985269647734	0.32582	0.191660985735	0.21496	0.797603547573	0.81598	T	0.07223	0.34403	T	-0.048836	0.44625	T	-0.307926	0.43882	T	0.743178237963226	0.42909	D	0.433057	0.11799	T	.	.	.	.	.	.	.	.	-6.949	0.53661	T	.	.	0.714	0.73525	P	.	.	2.891447	0.38292	20.7	0.99206848211221932	0.55472	0.03189	0.08176	N	AEFDBI	0.056710	0.10505	N	0.0457252797090504	0.43946	2.677748	-0.144420298386231	0.33623	1.925283	0.999941494383221	0.47345	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.39	3.39	0.37919	0.249000	0.17989	6.361000	0.55508	0.731000	0.85647	0.001000	0.13787	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	8.468	0.32130	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	.	.	.	.	.	.	.	.	0.02632	797.33	38	chr1	2321570	.	A	G	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=750;ExcessHet=0;FS=2.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.736;SOR=0.408	GT:AD:DP:GQ:PL	0/1:36,31:67:99:811,0,934	18	0	1	0
chr1	2514009	2514009	T	A	exonic	PANK4	.	nonsynonymous SNV	PANK4:NM_018216:exon12:c.A1568T:p.Y523F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0436401638855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.699	0.70351	-1.0098	0.26981	T	0.025	0.10821	T	10	0.45999593	0.59225	T	0.04364	0.61084	D	0.311	0.63269	.	.	0.377143385212	0.37329	.	.	0.873868921749	0.69494	0.661674499512	0.61649	T	.	.	.	-0.086432	0.38663	T	-0.36193	0.37828	T	0.940825402736664	0.61351	D	0.971903	0.89805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.968914	0.58269	24.0	0.97950396746026569	0.37100	0.92367	0.55547	D	AEFBCI	0.668689	0.63638	D	0.406425593717526	0.61776	4.383257	0.385241269064624	0.60654	4.25543	0.999999997306136	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	5.590000	0.67223	7.666000	0.64515	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	13.724	0.62229	834	0.38640	.;Domain of unknown function DUF89	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	801.33	40	chr1	2514009	.	T	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.017;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.73;SOR=0.62	GT:AD:DP:GQ:PL	0/1:52,39:91:99:815,0,1269	18	0	1	0
chr1	7663985	7663985	A	G	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349608:exon8:c.A1348G:p.T450A,CAMTA1:NM_001349612:exon8:c.A1348G:p.T450A,CAMTA1:NM_001349609:exon9:c.A1438G:p.T480A,CAMTA1:NM_001349610:exon9:c.A1438G:p.T480A,CAMTA1:NM_015215:exon9:c.A1438G:p.T480A	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3077057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.00356458728332	.	0.00199681	0.0006	0	0	0.0086	0	1.501e-05	0	6.057e-05	0.0005757	89	154602	rs138123146	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0054	0.0052	2.987e-05	0	0	0.0061	0	0	4.496e-06	0.0003	0.0002	0.0004	0.0004	0.0003	0.0004	0.0105	0.0003	0.0003	0.0083	0.0075	2.407e-05	0	0	0	0.0105	0	0	2.941e-05	0	0.0002	0.257	0.16738	T	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000098	0.51296	N	0.173169	0.98597	0.24661	N	0	0.06538	N	0.99	0.41750	T	-1.21	0.30762	N	0.18	0.19459	-1.0554	0.12934	T	0.040	0.17234	T	10	0.0050860345	0.00110	T	0.003565	0.08123	T	0.098	0.28162	.	.	0.307279486299	0.30330	0.3192035588319111	0.31833	0.475333967589	0.46711	0.619276165962	0.55626	T	0.023031	0.17650	T	-0.63495	0.00089	T	-0.67445	0.07326	T	0.0455934127705799	0.04710	T	0.820318	0.47908	T	0.0551138	0.10667	0.05566608	0.09807	0.0551138	0.10667	0.05566608	0.09807	-3.731	0.19776	T	0.15718647448082046	0.18965	0.063	0.01428	B	.	.	2.379905	0.30549	18.47	0.92125835700244307	0.21482	0.95637	0.65522	D	AEFBI	0.477845	0.52066	N	-0.336753669694051	0.27761	1.525774	-0.171492437285394	0.32592	1.855695	0.00440468175936787	0.10539	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.633917	0.49826	0	.	.	5.02	2.66	0.30672	5.259000	0.65304	3.053000	0.36128	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6851:0.0:0.1633:0.1516	4.066	0.09339	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2049.33	33	chr1	7663985	.	A	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.089;DP=953;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.189;SOR=0.858	GT:AD:DP:GQ:PL	0/1:115,92:207:99:2063,0,2891	18	0	1	0
chr1	7786748	7786748	G	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.G302C:p.S101T,PER3:NM_001289862:exon4:c.G302C:p.S101T,PER3:NM_001289863:exon4:c.G302C:p.S101T,PER3:NM_001377275:exon4:c.G302C:p.S101T,PER3:NM_001377276:exon4:c.G302C:p.S101T,PER3:NM_016831:exon4:c.G302C:p.S101T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0109695128164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016978300	1.166e-05	1.163e-05	1.093e-05	1.241e-05	0.0003	7.11e-06	5.81e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	1.173e-05	3.32e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.353	0.12187	T	0.793	0.04155	T	0.983	0.60381	D	0.721	0.54900	P	0.114955	0.19254	U	0.484283	1	0.08975	N	1.03	0.25572	L	1.48	0.31731	T	-1.12	0.32991	N	0.191	0.27197	-1.0551	0.13013	T	0.076	0.30553	T	10	0.090088636	0.15664	T	0.01097	0.28104	T	0.066	0.19193	0.345	0.33950	0.468586609112	0.46487	0.20581028587758657	0.20498	0.219265997047	0.24462	0.369256496429	0.20725	T	0.02847	0.34869	T	-0.453769	0.01073	T	-0.697901	0.05940	T	0.0756987705826759	0.09429	T	0.651335	0.26282	T	0.047539983	0.08141	0.042481598	0.05069	0.047539983	0.08140	0.042481598	0.05069	-6.654	0.52291	T	0.4712745994848644	0.55168	0.107	0.25331	B	.;.;.;.;.	.;.;.;.;.	2.856706	0.37735	20.6	0.85892052917204209	0.16179	0.15076	0.18732	N	AEFBI	0.076221	0.15327	N	-0.621207167378068	0.18307	0.9494574	-0.762533724339042	0.15414	0.8105999	0.995266953923062	0.34034	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.32	2.43	0.28797	1.001000	0.29384	2.727000	0.34358	-0.106000	0.15538	0.010000	0.18352	0.137000	0.23056	0.123000	0.19290	0.2897:0.0:0.7103:0.0	8.083	0.29918	726	0.54788	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	957.33	35	chr1	7786748	.	G	C	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=723;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=1.89;SOR=0.572	GT:AD:DP:GQ:PL	0/1:60,40:100:99:971,0,1484	18	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,11:36:59:.:.:59,0,482:.	5	0	11	3
chr1	10433932	10433945	GCGGCCATTTCGGA	-	exonic	CENPS;CENPS-CORT	.	frameshift deletion	CENPS-CORT:NM_001270517:exon2:c.142_155del:p.A49Dfs*6,CENPS-CORT:NM_198544:exon2:c.142_155del:p.A49Dfs*6,CENPS-CORT:NM_199006:exon2:c.142_155del:p.A49Dfs*6,CENPS:NM_199294:exon2:c.142_155del:p.A49Dfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1777.29	33	chr1	10433931	.	TGCGGCCATTTCGGA	T	1777.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=1.89;SOR=0.712	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1791,0,2398	18	0	1	0
chr1	11926174	11926174	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon1:c.C64T:p.L22F	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	.	.	0.00519169	0.0019	0.0106	0.0106	0	0	0.0060	0	0.0002	0.0007633	118	154602	rs552116013	0.0016	0.0016	0.0017	0.0015	0.0225	0.0016	0.0015	0.0209	0.0203	0.0225	0.0059	0.0082	0	0	0.0081	0.0009	0.0044	5.712e-05	0.0077	0.0076	0.0075	0.0079	0.0207	0.0073	0.0072	0.0195	0.0191	0.0207	0	0.0109	0.0073	0	0	0.0274	0.0012	0.0116	0	0.168	0.25873	T	0.032	0.54159	D	0.954	0.62824	P	0.812	0.61127	P	0.013323	0.28875	U	0.221922	0.835158	0.28707	N	1.1	0.28011	L	.	.	.	-1.27	0.31981	N	0.267	0.30233	-1.0711	0.09173	T	0.080	0.31795	T	9	0.010978609	0.00242	T	.	.	.	0.185	0.45933	.	.	0.0986583533028	0.09354	0.6570483473202517	0.65641	.	.	0.883800983429	0.94467	D	0.014329	0.12216	T	-0.387318	0.02800	T	-0.311547	0.43493	T	0.012001472375234	0.00189	T	0.834817	0.50404	T	0.078720696	0.17943	0.09588927	0.22761	0.078720696	0.17942	0.09588927	0.22760	-6.427	0.49976	T	.	.	0.216	0.48998	B	.;.;.	.;.;.	4.525571	0.71002	25.6	0.9973177433673841	0.82833	0.48785	0.28285	N	AEFDBCI	0.087111	0.17662	N	0.0940217877704556	0.46185	2.862727	0.0518959859818533	0.42164	2.545533	0.999999286979526	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.55	1.47	0.21832	0.523000	0.22632	8.296000	0.76925	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.4455:0.5544:0.0	7.584	0.27150	774	0.48577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013366	0.042683	0.015723	0.008130	0.000000	0.011905	0.000000	0.000000	0.02632	232.33	31	chr1	11926174	.	G	A	232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=533;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-2.511;SOR=0.665	GT:AD:DP:GQ:PL	0/1:9,11:20:99:246,0,163	18	0	1	0
chr1	12775757	12775757	T	G	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.T502G:p.W168G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00509343087345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.001626	0.38439	N	0.233290	1	0.08975	N	3.355	0.91145	M	2.22	0.18248	T	-10.37	0.98995	D	0.481	0.51583	-1.0456	0.15650	T	0.096	0.36238	T	10	0.90115213	0.89476	D	0.005093	0.12908	T	0.095	0.27398	0.862	0.95885	0.144782658237	0.14088	0.5834960128586208	0.58278	0.267415043772	0.29287	0.454578965902	0.32570	T	0.257782	0.62886	T	-0.142735	0.29456	T	-0.442805	0.28494	T	0.859391689300537	0.50996	D	0.481352	0.14557	T	0.1267406	0.29678	0.110442616	0.26629	0.1267406	0.29677	0.110442616	0.26629	-9.511	0.70927	D	.	.	0.402	0.59705	A	.	.	2.514803	0.32483	19.06	0.87222255320216624	0.17074	0.01903	0.05831	N	AEFBI	0.022275	0.01093	N	-0.250200641360425	0.31096	1.740228	-0.582900336884127	0.19938	1.072037	1.58172178623832E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.8	-1.53	0.08156	0.041000	0.13813	-5.031000	0.01878	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.4129:0.0:0.2115:0.3756	3.375	0.06813	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	.	.	.	.	.	.	.	.	0.02632	3124.33	33	chr1	12775757	.	T	G	3124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=898;ExcessHet=0;FS=2.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.341;SOR=0.874	GT:AD:DP:GQ:PL	0/1:120,120:240:99:3138,0,3101	18	0	1	0
chr1	13371846	13371846	T	C	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon1:c.A55G:p.R19G	.	442	1078	1	1	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00193392650548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400720118	0.0003	0.0017	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	3.055e-05	9.116e-05	0	5.052e-05	1.889e-05	0.0002	7.764e-05	0.0002	0.0038	0.0001	0.0003	0.0001	0.0001	0.0023	9.863e-05	8.359e-05	0.0013	0.0010	4.892e-05	0	6.664e-05	0	0.0002	0	0	7.41e-05	0.0010	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.279892	0.14965	N	0.652569	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8345	0.53009	T	0.158	0.49128	T	10	0.078886956	0.12627	T	0.002458	0.04868	T	.	.	0.518	0.61915	.	.	0.3191771873009139	0.31830	.	.	0.613052248955	0.54747	T	0.184227	0.53682	T	.	.	.	.	.	.	.	.	.	0.0638936	0.00465	T	0.15734927	0.35460	0.10878459	0.26209	0.15734927	0.35459	0.10878459	0.26208	-7.742	0.59299	D	.	.	0.108	0.20547	B	.	.	1.481006	0.19065	14.07	0.80219062071296932	0.13100	0.00480	0.02286	N	AEFI	0.035448	0.04564	N	-0.874140333807253	0.11460	0.5531669	-1.07606447539476	0.08172	0.4007081	1.10222198371035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-0.189	0.12608	-0.024000	0.12382	-0.389000	0.09488	0.468000	0.21784	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3864:0.0:0.0:0.6136	3.113	0.05980	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	.	.	.	.	.	.	.	.	0.02632	2059.33	62	chr1	13371846	.	T	C	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1008;ExcessHet=0;FS=4.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.76;MQRankSum=0.315;QD=14.3;ReadPosRankSum=-0.056;SOR=0.44	GT:AD:DP:GQ:PL	0/1:67,77:144:99:2073,0,1682	18	0	1	0
chr1	16023922	16023922	G	T	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001042704:exon3:c.G223T:p.V75F,CLCNKA:NM_001257139:exon3:c.G223T:p.V75F,CLCNKA:NM_004070:exon3:c.G223T:p.V75F	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1505	17	0	0	17	0.00561612	.	.	.	2805829	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.420	.	0.0002	0.00379393	0.0020	0	0.0002	0	0	0.0002	0.0011	0.0137	0.0017594	272	154602	rs200509489	0.0008	0.0008	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0	0.0002	0.0008	0	0	0.0023	6.835e-05	0.0010	0.0120	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0082	0.0074	0	0	0	0.0009	0	0	0	0.0001	0	0.0106	0.299	0.56456	T	0.498	0.50809	T	0.401	0.34877	B	0.211	0.37346	B	0.346608	0.13881	N	0.688144	0.999883	0.19853	N	2.105	0.58435	M	-3.11	0.94114	D	-1.5	0.36586	N	0.629	0.67045	-0.1407	0.79147	T	0.694	0.89430	D	10	0.01260379	0.00270	T	.	.	.	0.420	0.72930	.	.	0.853538057988	0.85212	0.45529462260659076	0.45447	0.471130030195	0.46381	0.35739594698	0.19005	T	0.115178	0.43357	T	-0.191541	0.22032	T	-0.0368813	0.67911	D	0.0617978158064845	0.07450	T	0.533147	0.17760	T	0.10060977	0.23757	0.0817704	0.18610	0.09987057	0.23575	0.106501006	0.25621	-4.093	0.25187	T	0.1606331514926354	0.19610	0.114	0.32541	B	.;.;.	.;.;.	2.287373	0.29252	18.06	0.89978184302987896	0.19272	0.06806	0.12830	N	AEFGBI	0.064424	0.12507	N	-0.728649471011165	0.15220	0.7651172	-0.868236933851735	0.12851	0.6633935	0.786373433937458	0.23937	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.586402	0.36253	0	.	.	3.37	1.37	0.21200	2.517000	0.45189	3.249000	0.37015	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.2419:0.2108:0.5473:0.0	3.645	0.07719	438	0.80235	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3512.83	36	chr1	16023922	.	G	T	3512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.189;DP=929;ExcessHet=0.119;FS=0.873;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.34;SOR=0.762	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1458,0,1740	17	0	2	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	0/1:408,189:597:99:.:.:3996,0,11329:.	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	0/1:519,249:768:99:.:.:5439,0,13867:.	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	0/1:573,218:791:99:5698,0,17241	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	0/1:692,95:787:99:683,0,26638	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	0/1:474,159:633:99:.:.:3280,0,18609:.	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	0/1:287,338:625:99:8336,0,9289	0	0	19	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:385,48:433:99:260,0,10136	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|1:52,20:72:99:0|1:16579293_A_G:667,0,2113:16579293	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|1:52,20:72:99:0|1:16579293_A_G:667,0,2113:16579293	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	0/1:49,14:63:99:.:.:361,0,1425:.	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,6:62:49:.:.:49,0,2275:.	8	0	11	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:254,67:321:99:1276,0,7090	10	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	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	1/1:0,30:30:90:1044,90,0	1	7	11	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6483.37	502	chr1	16760964	.	A	G	6483.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.242;DP=11036;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.29;MQRankSum=-1.517;QD=2.3;ReadPosRankSum=0.031;SOR=0.697	GT:AD:DP:GQ:PL	0/1:394,76:470:99:835,0,12034	14	0	5	0
chr1	16988356	16988356	T	C	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141974:exon23:c.A2596G:p.M866V,ATP13A2:NM_001141973:exon24:c.A2713G:p.M905V,ATP13A2:NM_022089:exon24:c.A2728G:p.M910V	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0979173572665	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769961390	8.209e-06	8.209e-06	8.168e-06	8.251e-06	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	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	0.151	0.25560	T	0.288	0.21144	T	0.0	0.02946	B	0.0	0.01387	B	0.361394	0.13664	N	0.735663	0.988883	0.24360	N	-1.825	0.00279	N	0.45	0.98969	T	0.05	0.08809	N	0.111	0.12627	0.291	0.87409	D	0.658	0.88114	D	10	0.03594303	0.01867	T	0.097917	0.76854	D	0.129	0.35316	0.399	0.42753	0.720694500034	0.71823	0.09046174636602368	0.08979	0.329208167022	0.35030	0.305052518845	0.11160	T	0.055368	0.29985	T	-0.204595	0.20144	T	-0.329009	0.41581	T	0.013703083011805	0.00256	T	0.274073	0.36981	T	0.039863177	0.05583	0.06973458	0.14731	0.039863177	0.05582	0.06973458	0.14730	-4.507	0.31123	T	0.07193603384025365	0.02907	0.051	0.00297	B	.;.;.;.	.;.;.;.	0.038106	0.04550	1.240	0.66200255110484429	0.07989	0.16161	0.19259	N	AEFBCI	0.240898	0.36261	N	-1.24503061177502	0.04365	0.1968807	-1.09786560595181	0.07742	0.3778036	0.962705227953934	0.28640	0.712529	0.81865	0	0.709663	0.81188	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.74	-0.786	0.10394	-0.269000	0.08626	-2.545000	0.03625	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.845000	0.39915	0.0:0.1998:0.1407:0.6595	5.779	0.17559	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2148.33	35	chr1	16988356	.	T	C	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.459;DP=963;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.49;SOR=0.683	GT:AD:DP:GQ:PL	0/1:75,93:168:99:2162,0,1862	18	0	1	0
chr1	21872628	21872628	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon32:c.C4024T:p.R1342C,HSPG2:NM_005529:exon32:c.C4021T:p.R1341C	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.0768079569125	.	.	4.341e-05	0.0002	0	0	0	3.957e-05	0	0	3.23e-05	5	154602	rs746028887	2.717e-05	3.352e-05	3.177e-05	2.249e-05	6.028e-05	2.034e-05	1.786e-05	1.933e-05	1.678e-05	6.028e-05	0	0	0	0	0	2.725e-05	5.043e-05	4.87e-05	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	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.854	0.60866	P	0.001640	0.38439	N	0.000000	1	0.81001	D	2.42	0.70002	M	-1.14	0.77843	T	-4.77	0.80425	D	0.732	0.73285	0.119	0.84510	D	0.520	0.82091	D	10	0.82899946	0.82068	D	0.076808	0.72621	D	0.612	0.84826	0.568	0.69034	0.817755219532	0.81603	0.6961079310885316	0.69551	0.910207131385	0.71029	0.57468444109	0.49339	T	0.836113	0.96134	D	0.210049	0.74835	D	0.0639441	0.74507	D	0.862087249755859	0.51242	D	0.89671	0.63922	D	0.29252493	0.52227	0.2466558	0.50180	0.29252493	0.52227	0.2466558	0.50179	-10.755	0.78297	D	.	.	0.670	0.71754	P	.	.	5.286826	0.88766	29.7	0.99914993017814835	0.98309	0.91434	0.53526	D	AEFDBHCI	0.701603	0.65824	D	0.358862150098487	0.59208	4.098455	0.255472846279264	0.52962	3.467603	0.999999699695357	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.97	3.97	0.45241	3.380000	0.52180	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.0:0.0:1.0:0.0	13.581	0.61365	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2054.33	67	chr1	21872628	.	G	A	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=1646;ExcessHet=0;FS=5.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.058;SOR=1.17	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2068,0,2045	18	0	1	0
chr1	22593677	22593677	G	C	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon7:c.G1594C:p.G532R	.	367	1151	2	0	2	4	0.000868056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	.	0.00219649	0.0017	0.0002	0.0002	0	0	0	0	0.0102	0.0007309	113	154602	rs560791662	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.571e-05	0	0.0005	5.441e-06	0.0003	0.0060	0.0002	0.0002	7.708e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0054	0.345	0.12511	T	0.299	0.20422	T	0.997	0.70673	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.6	0.40776	L	0.64	0.52867	T	-1.12	0.28906	N	0.581	0.60241	-0.8985	0.48145	T	0.184	0.53331	T	10	0.010440618	0.00232	T	.	.	.	0.143	0.38195	0.238	0.16912	0.667442060384	0.66464	0.5189263176118889	0.51815	0.859423846609	0.68894	0.741804242134	0.73238	T	0.107205	0.41921	T	-0.262443	0.12615	T	-0.146451	0.59557	T	0.149225145578384	0.17041	T	0.887511	0.61533	D	0.23022957	0.45774	0.29166397	0.55191	0.23022957	0.45775	0.29166397	0.55190	-5.45	0.41397	T	.	.	0.189	0.40730	B	.	.	5.282428	0.88695	29.7	0.99847015919422166	0.92663	0.98575	0.84269	D	AEFDBI	0.791381	0.71999	D	0.499246071565566	0.67048	5.029747	0.460742085471275	0.65411	4.820231	0.991986082272509	0.32678	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	3.85	3.85	0.43556	5.006000	0.63731	11.691000	0.94356	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1066:0.0:0.8934:0.0	8.800	0.34062	883	0.28872	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	0.002028	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	810.33	40	chr1	22593677	.	G	C	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.132;DP=767;ExcessHet=0;FS=6.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.57;SOR=1.528	GT:AD:DP:GQ:PL	0/1:57,38:95:99:824,0,1454	18	0	1	0
chr1	22644031	22644031	T	C	exonic	C1QC	.	nonsynonymous SNV	C1QC:NM_001114101:exon2:c.T8C:p.V3A,C1QC:NM_001347619:exon2:c.T8C:p.V3A,C1QC:NM_172369:exon2:c.T8C:p.V3A	C1q deficiency, Autosomal recessive	3	1511	8	0	0	8	0.00264026	.	.	.	1153517	C1Q_deficiency|not_provided	MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.7e-05	0.00219649	0.0018	0.0002	0.0003	0	0	0.0002	0	0.0099	0.0008603	133	154602	rs367838299	0.0005	0.0005	0.0003	0.0007	0.0076	0.0005	0.0005	0.0071	0.0069	6e-05	9.765e-05	0	0	1.948e-05	0.0040	3.9e-05	0.0005	0.0076	0.0003	0.0003	0.0001	0.0004	0.0054	0.0002	0.0002	0.0038	0.0033	2.414e-05	0	0	0	0	0	0.0102	8.838e-05	0.0014	0.0054	0.078	0.33923	T	0.126	0.35205	T	0.015	0.17086	B	0.005	0.11217	B	0.043748	0.23708	N	0.382295	1	0.08975	N	1.39	0.34934	L	-2.6	0.89888	D	-0.11	0.08653	N	0.1	0.08227	-0.7330	0.58812	T	0.335	0.70231	T	10	0.0068438947	0.00156	T	.	.	.	0.133	0.36157	.	.	0.735126212529	0.73275	0.4847854581621789	0.48398	0.377929830366	0.39216	0.277425676584	0.07136	T	0.077818	0.35745	T	-0.395926	0.02462	T	-0.335947	0.40802	T	0.0173005646323902	0.00470	T	0.174883	0.01686	T	0.033251967	0.03508	0.028905407	0.01172	0.027269388	0.01894	0.026691655	0.00773	-2.432	0.05333	T	.	.	0.063	0.01555	B	.;.;.	.;.;.	-0.009353	0.04217	1.033	0.77771944876763832	0.12015	0.06708	0.12729	N	AEFDBI	0.637315	0.61614	D	-1.07118584662743	0.07178	0.3326841	-1.06561953850982	0.08384	0.4120255	0.00217703085293898	0.09210	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	0.554	0.16430	-0.080000	0.11303	-0.541000	0.08582	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1343:0.1539:0.1398:0.5721	1.795	0.02874	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	0	0	0	1	0	0	0	0.002556	0.000000	0.001366	0.008982	0.000000	0.000000	0.000000	0.000000	0.02632	573.33	34	chr1	22644031	.	T	C	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=678;ExcessHet=0;FS=1.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.179;SOR=1.022	GT:AD:DP:GQ:PL	0/1:27,24:51:99:587,0,631	18	0	1	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9511.94	43	chr1	26282334	.	TGGGGCCG	*	9511.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.55;DP=897;ExcessHet=0.233;FS=18.578;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.394;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,17:24:72:.:.:708,0,72:.	15	0	4	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9447.43	43	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	9447.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.65;DP=928;ExcessHet=0.233;FS=19.632;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.91;MQRankSum=0;QD=18.78;ReadPosRankSum=-1.19;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,17:24:72:.:.:708,0,72:.	15	0	4	0
chr1	33541162	33541162	C	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_052896:exon58:c.G8993T:p.R2998L,CSMD2:NM_001281956:exon59:c.G9425T:p.R3142L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.058765451606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.038	0.53072	D	0.953	0.54283	P	0.866	0.61580	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.48	0.37141	L	-0.04	0.63240	T	-3.33	0.66206	D	0.694	0.76573	-0.3909	0.72313	T	0.346	0.71115	T	10	0.80928886	0.80231	D	0.058765	0.67431	D	0.354	0.67510	0.728	0.86198	0.732157991247	0.72977	0.709647157728719	0.70906	.	.	0.786902725697	0.79971	T	0.175676	0.52535	T	0.0959252	0.63848	D	-0.0999865	0.63398	T	0.988506436347961	0.78827	D	0.883312	0.81989	D	0.46464747	0.64960	0.34935662	0.60562	0.46464747	0.64961	0.34935662	0.60561	-6.849	0.52923	T	.	.	0.464	0.62874	A	.;.;.	.;.;.	3.401289	0.47136	22.4	0.99724220622975512	0.82266	0.98779	0.86744	D	AEFDBI	0.787044	0.71695	D	0.613380364723348	0.74021	6.062259	0.634783297416898	0.77482	6.687848	0.99999999994832	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	4.979000	0.63525	4.877000	0.45627	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.558	0.91046	416	0.81733	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	33	chr1	33541162	.	C	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.346;DP=715;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.565;SOR=0.862	GT:AD:DP:GQ:PL	0/1:49,42:91:99:941,0,1137	18	0	1	0
chr1	35114549	35114549	G	A	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.G2494A:p.V832I,ZMYM1:NM_001289089:exon10:c.G2662A:p.V888I,ZMYM1:NM_024772:exon10:c.G2719A:p.V907I,ZMYM1:NM_001289088:exon11:c.G2719A:p.V907I,ZMYM1:NM_001289090:exon11:c.G2719A:p.V907I,ZMYM1:NM_001289091:exon11:c.G1639A:p.V547I	.	455	1066	1	0	0	1	0.000468823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00566718286559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005014934	1.029e-05	1.026e-05	8.187e-06	1.241e-05	6e-05	6.18e-06	4.9e-06	9.94e-06	3.89e-06	6e-05	0	0	2.525e-05	0	0	9.906e-06	0	1.169e-05	5.26e-05	5.254e-05	3.856e-05	6.73e-05	0.0002	2.558e-05	1.831e-05	3.25e-05	1.915e-05	9.653e-05	0	0	0	0.0002	0	0	4.413e-05	0	0	0.212	0.19500	T	0.314	0.19480	T	0.003	0.11197	B	0.001	0.04355	B	0.294221	0.03914	N	1.531840	0.999998	0.08975	N	1.01	0.25309	L	1.9	0.23486	T	-0.29	0.11728	N	0.036	0.01203	-1.0127	0.26070	T	0.033	0.14247	T	9	0.029463947	0.01073	T	0.005667	0.14681	T	0.012	0.01476	0.319	0.29741	0.0401082797425	0.02173	0.040881615567085826	0.04033	0.127677448216	0.14390	0.30205732584	0.10708	T	0.002865	0.02258	T	-0.467705	0.00879	T	-0.737144	0.04012	T	0.052282128483057	0.05896	T	0.467453	0.13767	T	0.02810516	0.02097	0.03572496	0.02878	0.02810516	0.02097	0.03572496	0.02878	-3.601	0.17871	T	.	.	0.065	0.02091	B	.;.;.;.	.;.;.;.	0.242004	0.06222	2.673	0.55473132173801809	0.05349	0.03869	0.09232	N	AEFGBI	0.035786	0.04663	N	-1.01932077326099	0.08203	0.3838047	-0.99219059716536	0.09959	0.4986504	0.36885737074988	0.19850	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.755437	0.99637	0	.	.	4.74	1.67	0.23149	-0.572000	0.05973	0.220000	0.16063	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.3483:0.0:0.6517:0.0	6.662	0.22213	886	0.28090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	818.33	34	chr1	35114549	.	G	A	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.396;DP=706;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.203;SOR=0.572	GT:AD:DP:GQ:PL	0/1:47,37:84:99:832,0,1185	18	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	532.47	67	chr1	38018559	.	G	C	532.47	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.46;DP=1141;ExcessHet=0.119;FS=189.283;InbreedingCoeff=-0.1256;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=2.31;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,23:133:44:.:.:44,0,3695:.	13	0	2	4
chr1	41581647	41581647	G	C	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C3151G:p.L1051V,HIVEP3:NM_024503:exon4:c.C3151G:p.L1051V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00961983002617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.032	0.53426	D	0.999	0.77913	D	0.962	0.70672	D	0.001960	0.37596	N	0.000000	0.994841	0.42439	D	2.24	0.63355	M	0.92	0.44461	T	-1.79	0.42191	N	0.482	0.61002	-0.7102	0.59942	T	0.229	0.59447	T	10	0.35429668	0.52217	T	0.00962	0.25153	T	0.125	0.34456	0.155	0.05858	0.571554507246	0.56821	0.2152372199773753	0.21439	0.746002477667	0.63520	0.687279939651	0.65314	T	0.215717	0.57768	T	-0.0957794	0.37124	T	-0.375357	0.36265	T	0.915600001811981	0.57269	D	0.919208	0.70896	D	0.24244663	0.47172	0.22200981	0.47031	0.24244663	0.47172	0.22200981	0.47030	-10.427	0.76426	D	.	.	0.278	0.51165	B	.;.;.	.;.;.	3.828171	0.55313	23.6	0.99754391554614574	0.84537	0.98152	0.80048	D	AEFBI	0.678118	0.64259	D	0.59435325380405	0.72821	5.866475	0.573988309062858	0.73079	5.912446	0.999830742925687	0.43792	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	3.967000	0.56509	8.678000	0.78033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.847	0.88646	486	0.77016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1291.33	50	chr1	41581647	.	G	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=1311;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.561;SOR=0.593	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1305,0,2173	18	0	1	0
chr1	42831028	42831028	G	A	exonic	ERMAP	.	nonsynonymous SNV	ERMAP:NM_018538:exon3:c.G346A:p.V116M,ERMAP:NM_001017922:exon4:c.G346A:p.V116M	.	0	1520	2	0	0	2	0.000657462	.	.	.	3442137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.381	0.025979220294	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs563298024	1.3e-05	1.3e-05	1.225e-05	1.375e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	0	0	0	2.519e-05	0	0	8.093e-06	3.311e-05	8.115e-05	6.564e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	0.002	0.79402	D	0.998	0.73220	D	0.862	0.61339	P	0.005759	0.32538	N	0.133082	1	0.08975	N	3.84	0.95699	H	-0.34	0.68474	T	-1.99	0.45949	N	0.53	0.56058	-0.1796	0.78190	T	0.572	0.84531	D	10	0.55627185	0.64535	D	0.025979	0.48919	D	0.381	0.69863	0.517	0.61763	0.819228050113	0.81752	0.6316082064679078	0.63094	0.600074570013	0.55104	0.465600669384	0.34077	T	0.159595	0.50310	T	-0.0158324	0.49444	T	-0.0789907	0.64978	T	0.950393259525299	0.63326	D	0.820318	0.47908	T	0.37261027	0.58777	0.3410961	0.59853	0.37261027	0.58777	0.3410961	0.59853	-7.558	0.58017	D	.	.	0.558	0.67136	A	.;.	.;.	2.889587	0.38266	20.7	0.99806930673473393	0.89085	0.18391	0.20241	N	AEFBHI	0.056715	0.10505	N	0.393755748253412	0.61082	4.304783	0.210373674744319	0.50423	3.234427	0.999999583565506	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.584781	0.30282	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	0.790000	0.26562	5.043000	0.46929	0.676000	0.76740	0.214000	0.24469	1.000000	0.68203	0.047000	0.14932	0.0:0.0:1.0:0.0	13.556	0.61223	696	0.58299	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2499.33	36	chr1	42831028	.	G	A	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.389;SOR=0.721	GT:AD:DP:GQ:PL	0/1:107,104:211:99:2513,0,2500	18	0	1	0
chr1	45457733	45457733	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G53A:p.R18H	.	430	1069	22	1	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0014	0.00419329	0.0037	0.0002	0.0008	0	0	0.0014	0.0056	0.0205	0.0032276	499	154602	rs149714069	0.0026	0.0026	0.0019	0.0032	0.0209	0.0025	0.0025	0.0201	0.0198	0.0001	0.0007	0.0024	0	0	0.0064	0.0015	0.0020	0.0209	0.0016	0.0016	0.0014	0.0019	0.0199	0.0014	0.0014	0.0167	0.0155	0.0003	0.0121	0.0003	0.0046	0	0	0	0.0015	0.0019	0.0199	0.086	0.32769	T	0.031	0.54541	D	0.445	0.35971	B	0.058	0.26451	B	0.000007	0.62929	D	0.000000	0.983889	0.81001	D	1.04	0.26193	L	-0.77	0.73523	T	-1.64	0.39314	N	0.484	0.58287	-0.5083	0.68349	T	0.256	0.62609	T	10	0.0052828193	0.00115	T	.	.	.	0.183	0.45592	.	.	0.710673150413	0.70814	0.5013606746022161	0.50058	0.330047145895	0.35094	0.605308651924	0.53654	T	0.033276	0.22847	T	-0.318118	0.07053	T	-0.213474	0.53362	T	0.0204128717601628	0.00741	T	0.869413	0.57379	D	0.14839143	0.33879	0.09107235	0.21393	0.14839143	0.33879	0.09107235	0.21393	-4.474	0.30547	T	.	.	0.202	0.42578	B	.;.	.;.	4.217921	0.63779	24.6	0.99756414762243828	0.84694	0.93110	0.57353	D	AEFI	0.557622	0.56718	D	0.0284518771519918	0.43151	2.613788	0.188611535922757	0.49223	3.128045	0.00402280051686408	0.10385	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	3.311000	0.51629	5.787000	0.49843	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.418	0.90522	153	0.93993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.030303	0.02632	741.33	35	chr1	45457733	.	C	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=740;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.18;SOR=0.91	GT:AD:DP:GQ:PL	0/1:64,37:101:99:755,0,1442	18	0	1	0
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	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	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.02632	1870.33	143	chr1	46673263	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.474;DP=1392;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.03;SOR=0.908	GT:AD:DP:GQ:PL	0/1:73,77:150:99:1884,0,2039	18	0	1	0
chr1	47082450	47082450	C	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon4:c.C481T:p.R161W	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00998749889768	7.7e-05	.	0.0003	0	0	0	0	0.0001	0	0.0017	0.0002135	33	154602	rs375669698	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	4.511e-05	0	2.522e-05	0	0.0007	4.861e-05	0.0002	0.0016	7.881e-05	7.874e-05	6.425e-05	9.403e-05	0.0008	4.495e-05	3.511e-05	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	7.35e-05	0.0009	0.0008	0.003	0.68238	D	0.01	0.65728	D	0.999	0.77913	D	0.918	0.65394	D	0.787291	0.06690	U	1.314060	1	0.08975	N	1.965	0.53209	M	-0.5	0.70480	T	-4.64	0.79316	D	0.183	0.19861	-0.4754	0.69534	T	0.401	0.75252	T	10	0.03959623	0.02461	T	0.009987	0.25990	T	0.191	0.46948	.	.	0.713184890557	0.71067	0.2630129872147237	0.26214	1.70680105471	0.90386	0.693136453629	0.66157	T	0.177184	0.52739	T	-0.44043	0.01286	T	-0.440802	0.28718	T	0.176639470034052	0.19021	T	0.607939	0.22935	T	0.2256838	0.45234	0.27344483	0.53263	0.2256838	0.45234	0.27344483	0.53262	-7.269	0.55975	T	.	.	0.142	0.31177	B	.	.	0.153849	0.05455	1.925	0.99080296334182405	0.51954	0.00300	0.01598	N	AEFI	0.040317	0.05980	N	-0.569253177714703	0.19884	1.044131	-0.918758243901703	0.11652	0.5949118	5.92829220640263E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.562822	0.20929	0	.	.	2.4	-4.81	0.02948	-0.444000	0.06926	-2.639000	0.03520	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.738:0.151:0.0:0.1111	7.861	0.28670	536	0.73233	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001592	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1775.33	33	chr1	47082450	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.21;MQRankSum=-1.597;QD=11.17;ReadPosRankSum=1.65;SOR=0.704	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1789,0,1946	18	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	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	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.1053	12346.4	33	chr1	47148753	.	C	T	12346.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.19;DP=1681;ExcessHet=0.0101;FS=3.342;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=57.02;MQRankSum=-3.75;QD=17.61;ReadPosRankSum=0.773;SOR=0.964	GT:AD:DP:GQ:PL	1/1:0,205:205:99:6267,615,0	16	1	2	0
chr1	47439162	47439162	-	CGGGCC	exonic	FOXD2	.	nonframeshift insertion	FOXD2:NM_004474:exon1:c.1027_1028insCGGGCC:p.P349_A350insGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486092771	8.801e-05	8.483e-05	6.844e-05	0.0001	0.0007	7.448e-05	6.931e-05	0.0005	0.0004	0	0	0	3.604e-05	0	0.0003	6.156e-05	5.599e-05	0.0007	7.935e-05	7.886e-05	5.173e-05	0.0001	0.0006	4.524e-05	3.533e-05	0.0002	9.036e-05	7.265e-05	0	0.0002	0	0	0	0	4.436e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	75.29	42	chr1	47439162	.	T	TCGGGCC	75.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=659;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=0.217;SOR=1.034	GT:AD:DP:GQ:PL	0/1:12,3:15:89:89,0,495	18	0	1	0
chr1	52881538	52881538	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.A791G:p.N264S,ZYG11A:NM_001004339:exon11:c.A1817G:p.N606S	.	426	1060	35	1	0	37	0.0171535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00371419927087	0.0018	0.00299521	0.0039	0.0004	0.0048	0.0032	0.0006	0.0077	0.0081	0.0011	0.0011255	174	154602	rs74990705	0.0027	0.0026	0.0027	0.0028	0.0405	0.0027	0.0026	0.0363	0.0346	0.0015	0.0073	0.0180	0.0144	4.046e-05	0.0405	0.0017	0.0057	0.0013	0.0033	0.0033	0.0033	0.0033	0.0094	0.0031	0.0030	0.0082	0.0077	0.0008	0	0.0094	0.0196	0.0046	0	0.0714	0.0028	0.0090	0.0006	0.682	0.04404	T	0.548	0.10317	T	0.0	0.02946	B	0.001	0.04355	B	0.000544	0.43413	N	0.255590	0.999947	0.19238	N	-2.26	0.00106	N	0.86	0.46777	T	0.42	0.04380	N	0.119	0.10911	-1.0037	0.28844	T	0.017	0.06855	T	10	0.0032631755	0.00056	T	0.003714	0.08589	T	0.089	0.25827	.	.	0.0401082797425	0.02173	0.03835971225478573	0.03781	.	.	0.25982233882	0.04869	T	9.34E-4	0.00486	T	-0.68568	0.00044	T	-0.754957	0.03297	T	0.00477553847960825	0.00051	T	0.577542	0.26116	T	0.017094184	0.00246	0.02259496	0.00281	0.017094184	0.00245	0.02259496	0.00281	-0.424	0.00539	T	.	.	0.051	0.00158	B	.;.;.	.;.;.	0.763070	0.11331	7.949	0.42575992168650695	0.03148	0.20857	0.21194	N	AEFBI	0.042008	0.06462	N	-1.38617335773232	0.02767	0.1226422	-1.23648374870167	0.05335	0.2539068	3.74918051257091E-5	0.03775	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.56	1.51	0.22094	4.256000	0.58601	3.624000	0.39294	-0.991000	0.01849	1.000000	0.71638	0.772000	0.26708	0.385000	0.26447	0.1551:0.0:0.7126:0.1323	8.391	0.31689	154	0.93967	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041565	0.053191	0.059701	0.061947	0.000000	0.041667	0.005882	0.025000	0.07895	3743.79	35	chr1	52881538	.	A	G	3743.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.157;SOR=0.671	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1212,0,1316	16	0	3	0
chr1	54653905	54653905	A	G	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001039464:exon3:c.A979G:p.M327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0033434283439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.121	0.35840	T	0.0	0.07471	B	0.001	0.04355	B	0.051372	0.22988	N	0.313394	1	0.08975	N	0.895	0.22405	L	3.62	0.04399	T	-0.71	0.23372	N	0.157	0.16308	-0.9616	0.38877	T	0.009	0.03359	T	10	0.060512662	0.07446	T	0.003343	0.07451	T	0.029	0.06676	0.349	0.34598	0.0297737177859	0.01360	0.21301494683292785	0.21217	0.0719892692725	0.08073	0.318403810263	0.13179	T	0.002628	0.02014	T	-0.276427	0.11050	T	-0.634845	0.10050	T	0.244250506162643	0.22613	T	0.554844	0.19218	T	0.2594641	0.49000	0.16624033	0.38415	0.2594641	0.48999	0.16624033	0.38414	-2.364	0.04917	T	.	.	0.118	0.26731	B	.;.;.	.;.;.	0.629129	0.09975	6.731	0.50609729885465438	0.04414	0.18361	0.20229	N	AEFDBI	0.091554	0.18544	N	-0.950193773437446	0.09687	0.45961	-0.943096890629215	0.11084	0.5624913	0.966329566568906	0.28895	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.49	1.04	0.19220	-0.220000	0.09220	0.405000	0.18046	-0.177000	0.10537	0.463000	0.26667	0.011000	0.20116	0.085000	0.17524	0.6612:0.0:0.1219:0.217	2.863	0.05251	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	36	chr1	54653905	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=895;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.101;SOR=0.585	GT:AD:DP:GQ:PL	0/1:91,73:164:99:1709,0,2323	18	0	1	0
chr1	55007117	55007117	G	T	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon3:c.G393T:p.L131F	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	864625	Bartter_disease_type_4A|not_specified|Bartter_syndrome|not_provided	MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112|MedGen:CN169374|MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.310	0.120271694042	0.0002	0.000199681	0.0003	0.0004	0.0003	0	0	0.0003	0.0011	6.057e-05	0.0002264	35	154602	rs201387711	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	5.974e-05	0.0002	0.0004	0	0	0.0019	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0.0002	0	0.0002	0.0020	0	0	0	0.0002	0.0005	0.0004	0.013	0.53900	D	0.03	0.54159	D	0.999	0.77913	D	0.998	0.88582	D	0.000417	0.44736	D	0.000000	0.511307	0.31821	D	1.83	0.48079	L	-0.65	0.72237	T	-3.07	0.63207	D	0.443	0.48134	0.072	0.83667	D	0.472	0.79727	T	10	0.4357782	0.57783	T	0.120272	0.80078	D	0.310	0.63162	0.202	0.11659	0.647759520205	0.64484	0.1024461268180623	0.10174	0.41821122849	0.42420	0.353514373302	0.18438	T	0.717329	0.91983	D	-0.23285	0.16274	T	-0.266273	0.48196	T	0.0782609067059531	0.09763	T	0.538446	0.18153	T	0.15548502	0.35138	0.20191044	0.44194	0.15548502	0.35138	0.20191044	0.44193	-5.037	0.37239	T	.	.	.	.	.	.	.	2.016551	0.25627	16.83	0.99842362224839254	0.92229	0.18516	0.20292	N	AEFBI	0.122146	0.23715	N	0.0676736526120363	0.44960	2.760623	-0.112377161855368	0.34890	2.012137	0.0329143549428007	0.14079	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	3.89	1.98	0.25351	0.273000	0.18425	0.120000	0.14904	0.606000	0.46413	0.000000	0.06391	0.022000	0.20871	0.016000	0.10718	0.0:0.3601:0.6399:0.0	11.820	0.51504	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1820.33	35	chr1	55007117	.	G	T	1820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.735;DP=801;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.679;SOR=0.819	GT:AD:DP:GQ:PL	0/1:80,76:156:99:1834,0,1860	18	0	1	0
chr1	83917619	83917619	C	A	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon13:c.G1491T:p.K497N,TTLL7:NM_024686:exon14:c.G1572T:p.K524N,TTLL7:NM_001350214:exon15:c.G1572T:p.K524N	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0108380874614	0.0005	0.000399361	0.0012	9.621e-05	0.0003	0	0.0076	0.0012	0.0078	0.0003	0.0009832	152	154602	rs138340708	0.0008	0.0008	0.0008	0.0008	0.0033	0.0007	0.0007	0.0022	0.0018	0.0002	0.0008	0	0	0.0104	0.0033	0.0004	0.0011	0.0003	0.0012	0.0012	0.0008	0.0016	0.0016	0.0010	0.0010	0.0011	0.0010	9.626e-05	0	0.0016	0	0	0.0103	0	0.0005	0.0019	0	0.147	0.24955	T	0.361	0.22828	T	0.005	0.12996	B	0.003	0.08700	B	0.001124	0.40136	N	0.267769	1	0.08975	N	0.345	0.11182	N	3.77	0.03863	T	-1.24	0.31375	N	0.187	0.27554	-0.9032	0.47650	T	0.003	0.00929	T	10	0.0043030083	0.00087	T	0.010838	0.27831	T	0.028	0.06331	0.198	0.11110	0.12205267543	0.11705	0.13438143115916332	0.13362	0.593760985979	0.54712	0.388342618942	0.23436	T	0.036591	0.24160	T	-0.651319	0.00071	T	-0.779837	0.02458	T	0.0274144757480459	0.01603	T	0.947505	0.79737	D	0.058165114	0.11667	0.04003341	0.04233	0.058165114	0.11667	0.04003341	0.04233	-6.504	0.50317	T	.	.	0.426	0.60973	A	.;.	.;.	1.519347	0.19508	14.30	0.98557547741273144	0.42935	0.23087	0.21961	N	AEFBI	0.258244	0.37682	N	-1.02548241219461	0.08078	0.3774841	-0.958665794858943	0.10722	0.5418767	0.138528252528327	0.17228	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.82	1.4	0.21393	0.269000	0.18354	-0.341000	0.09816	-0.313000	0.06017	0.047000	0.21291	0.000000	0.08366	0.222000	0.22517	0.0:0.5157:0.0:0.4843	8.110	0.30067	944	0.12746	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	876.33	39	chr1	83917619	.	C	A	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.409;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=2.72;SOR=0.62	GT:AD:DP:GQ:PL	0/1:40,36:76:99:890,0,1094	18	0	1	0
chr1	84532908	84532908	T	C	exonic	SPATA1	.	nonsynonymous SNV	SPATA1:NM_001310156:exon7:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946256060	3.572e-05	3.625e-05	3.665e-05	3.476e-05	0.0014	2.748e-05	2.48e-05	0.0007	0.0005	0.0003	0	0	0	0	0.0014	2.316e-05	0.0001	1.262e-05	1.972e-05	1.971e-05	2.571e-05	1.346e-05	4.828e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0787746	0.12596	T	.	.	.	.	.	.	.	.	.	0.07311407128983613	0.07248	.	.	0.37598529458	0.21687	T	.	.	.	.	.	.	.	.	.	.	.	.	0.531147	0.17633	T	0.031139975	0.02900	0.099782385	0.23836	0.031139975	0.02900	0.099782385	0.23835	-2.55	0.06132	T	.	.	0.050	0.00127	B	.	.	-0.118604	0.03533	0.674	0.80998638127832168	0.13470	0.00906	0.03544	N	AEFI	.	.	.	.	.	.	.	.	.	2.76938924200201E-5	0.03498	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0862078	0.19583	4.63	-3.1	0.04991	-0.566000	0.06013	-0.664000	0.07966	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1577:0.405:0.1617:0.2756	1.965	0.03187	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr1	84532908	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.945;DP=706;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.533;SOR=0.821	GT:AD:DP:GQ:PL	0/1:50,42:92:99:882,0,1243	18	0	1	0
chr1	84563286	84563286	C	A	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon6:c.G928T:p.D310Y	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0003	0.0091853	0.0028	0.0004	8.694e-05	0.0361	0	1.509e-05	0.0011	0.0010	0.0027878	431	154602	rs3768249	0.0010	0.0011	0.0011	0.0010	0.0295	0.0010	0.0010	0.0281	0.0275	0.0002	0.0002	0	0.0295	0	0	1.371e-05	0.0037	0.0015	0.0017	0.0018	0.0018	0.0017	0.0411	0.0016	0.0015	0.0366	0.0348	0.0002	0	0.0012	0	0.0411	0	0	4.41e-05	0.0028	0.0035	0.035	0.43708	D	0.039	0.51112	D	0.608	0.39540	P	0.332	0.42135	B	0.476859	0.12212	N	0.786268	1	0.08975	N	1.7	0.43825	L	3.37	0.05847	T	-1.64	0.39314	N	0.341	0.38232	-0.9761	0.35882	T	0.009	0.03054	T	10	0.0049431026	0.00106	T	.	.	.	0.082	0.23913	.	.	0.44143026662	0.43763	0.582159272314302	0.58144	0.0845940308932	0.09560	0.263608008623	0.05328	T	0.107899	0.42048	T	-0.564628	0.00238	T	-0.554549	0.16892	T	0.0212813050440759	0.00830	T	0.655934	0.26583	T	0.08124756	0.18660	0.0684666	0.14300	0.08124756	0.18659	0.0684666	0.14300	-6.275	0.48524	T	.	.	0.073	0.04477	B	.	.	2.373872	0.30465	18.44	0.9799744598131731	0.37453	0.15986	0.19176	N	AEFBI	0.192335	0.31950	N	-0.439909643807143	0.24084	1.297916	-0.481160574120429	0.22672	1.232666	0.530703181633578	0.21173	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.5	-0.422	0.11714	0.124000	0.15557	0.030000	0.13718	-0.220000	0.07995	0.000000	0.06391	0.002000	0.18203	0.977000	0.56843	0.0:0.5353:0.2117:0.253	7.628	0.27393	660	0.61921	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	526.33	45	chr1	84563286	.	C	A	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.841;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.528;SOR=0.713	GT:AD:DP:GQ:PL	0/1:43,29:72:99:540,0,953	18	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,27:92:99:.:.:252,0,750:.	4	0	11	4
chr1	88983825	88983825	-	TTTTTTTTTTT	exonic	RBMXL1	.	startloss	RBMXL1:NM_019610:exon2:c.1_2insAAAAAAAAAAA:p.M1?,RBMXL1:NM_001162536:exon3:c.1_2insAAAAAAAAAAA:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0006	0.0002	0.0006	0.0006	0.0002	0	0.0001	3.84e-05	1	26028	rs772008437	5.336e-06	0.0017	3.565e-06	7.1e-06	3.931e-05	1.92e-06	1.26e-06	1.11e-06	7.5e-07	3.931e-05	2.77e-05	0	0	0	0	4.73e-06	0	0	5.196e-05	0.0002	2.881e-05	7.656e-05	0.0002	2.356e-05	1.685e-05	5.405e-05	3.53e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	766.48	114	chr1	88983825	.	A	ATTTTTTTTTTT	766.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.337;DP=1931;ExcessHet=0.3672;FS=4.551;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-8.05;QD=2.27;ReadPosRankSum=-0.246;SOR=1.204	GT:AD:DP:GQ:PL	0/1:91,4:99:99:348,0,3768	17	0	2	0
chr1	89935425	89935425	G	C	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G2357C:p.C786S,LRRC8D:NM_018103:exon3:c.G2357C:p.C786S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0248015727498	0.0015	0.000998403	0.0004	0.0044	0.0004	0	0	0	0	0	0.0003622	56	154602	rs151217773	0.0001	0.0001	0.0001	0.0001	0.0041	9.401e-05	8.883e-05	0.0035	0.0033	0.0041	0.0002	0	0	0	0.0002	8.993e-07	0.0002	0	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0005	0	0	0	0	0	0.0009	0	1.0	0.00964	T	0.923	0.02845	T	0.004	0.12183	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1	0.01172	N	0.67	0.52187	T	2.48	0.00239	N	0.874	0.87157	-0.9712	0.36946	T	0.025	0.10464	T	9	0.021673977	0.00524	T	0.024802	0.47786	T	0.308	0.62947	0.462	0.53079	0.440540251273	0.43675	0.39029140142391944	0.38944	0.814884222991	0.66894	0.724075734615	0.70641	T	0.017011	0.13954	T	-0.101385	0.36194	T	0.0821323	0.75720	D	0.159571748909114	0.17840	T	0.670133	0.27879	T	0.7305344	0.79754	0.4775988	0.69736	0.7305344	0.79755	0.4775988	0.69736	-2.842	0.08576	T	.	.	0.137	0.29914	B	.;.	.;.	2.595267	0.33679	19.41	0.86704296183674978	0.16716	0.99551	0.97351	D	AEFDBI	0.964927	0.98715	D	-0.0367671549572968	0.40197	2.382978	0.278894195831323	0.54308	3.596257	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	10.003000	0.99689	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	20.644	0.99572	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2170.33	33	chr1	89935425	.	G	C	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=801;ExcessHet=0;FS=7.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.999;SOR=1.096	GT:AD:DP:GQ:PL	0/1:83,84:167:99:2184,0,1987	18	0	1	0
chr1	92481068	92481068	G	C	exonic	GFI1	.	nonsynonymous SNV	GFI1:NM_001127215:exon4:c.C319G:p.P107A,GFI1:NM_001127216:exon4:c.C319G:p.P107A,GFI1:NM_005263:exon4:c.C319G:p.P107A	.	0	1517	5	0	0	5	0.00164528	.	.	.	250023	not_specified|Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided	MedGen:CN169374|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.00638007341911	0.0017	0.00119808	0.0026	0.0007	0.0038	0	0.0009	0.0036	0	0.0009	0.002238	346	154602	rs149914857	0.0039	0.0040	0.0040	0.0039	0.0047	0.0039	0.0038	0.0046	0.0045	0.0008	0.0024	0.0022	0	0.0010	0.0035	0.0047	0.0039	0.0009	0.0026	0.0026	0.0027	0.0025	0.0045	0.0024	0.0023	0.0041	0.0040	0.0011	0.0033	0.0012	0.0012	0	0.0009	0.0034	0.0045	0.0019	0.0002	0.134	0.26300	T	0.068	0.44106	T	0.009	0.15093	B	0.005	0.11217	B	0.002080	0.37317	N	0.267267	0.989966	0.41059	D	2.14	0.59869	M	2.7	0.12162	T	-2.88	0.60507	D	0.242	0.27910	-1.0984	0.04290	T	0.025	0.10910	T	10	0.008533537	0.00193	T	0.00638	0.16783	T	0.107	0.30369	.	.	0.789066735824	0.78710	0.15824017526891318	0.15745	1.42110148924	0.85611	0.436769783497	0.30135	T	0.566782	0.85590	D	-0.58419	0.00182	T	-0.610971	0.11906	T	0.0263316863820734	0.01451	T	0.811219	0.46271	T	0.08659842	0.20133	0.082841314	0.18938	0.108980656	0.25765	0.07057042	0.15008	-3.708	0.19437	T	0.2324507763104613	0.31463	0.076	0.05845	B	.;.;.	.;.;.	3.336901	0.45964	22.2	0.99093200135936799	0.52272	0.97978	0.78588	D	AEFDBCI	0.800907	0.72676	D	0.110239998590133	0.46940	2.926782	0.22428650294991	0.51197	3.304468	0.999999975172228	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.37	4.37	0.51830	7.360000	0.78747	8.274000	0.76893	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	17.463	0.87518	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005556	0.010309	0.008152	0.005848	0.000000	0.000000	0.003067	0.000000	0.02632	870.33	37	chr1	92481068	.	G	C	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.55;SOR=0.659	GT:AD:DP:GQ:PL	0/1:55,44:99:99:884,0,1396	18	0	1	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	335.28	35	chr1	93239851	.	T	G	335.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.706;DP=810;ExcessHet=0.4139;FS=553.302;InbreedingCoeff=-0.3127;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.642;SOR=8.813	GT:AD:DP:GQ:PL	0/1:56,22:78:99:143,0,827	4	0	3	12
chr1	93877105	93877105	A	G	exonic	DNTTIP2	.	nonsynonymous SNV	DNTTIP2:NM_014597:exon2:c.T830C:p.I277T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00477757307581	.	.	1.664e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs762134971	3.426e-06	3.42e-06	4.092e-06	2.755e-06	7.56e-05	1e-06	7.3e-07	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	8.995e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.676	0.06186	T	0.016	0.17332	B	0.015	0.17295	B	0.780934	0.06654	N	1.117470	1	0.08975	N	0.755	0.19153	N	2.57	0.13552	T	0.19	0.04947	N	0.029	0.00666	-0.9202	0.45527	T	0.004	0.01125	T	10	0.03514713	0.01750	T	0.004778	0.11941	T	0.029	0.06676	0.269	0.21735	0.0846915920261	0.08053	0.054129997959408115	0.05354	0.077331380461	0.08693	0.345233798027	0.17218	T	0.006019	0.05459	T	-0.436374	0.01358	T	-0.638895	0.09749	T	0.0260104600406426	0.01408	T	0.469553	0.13876	T	0.06467497	0.13746	0.07141977	0.15291	0.06467497	0.13746	0.07141977	0.15290	-3.205	0.12542	T	.	.	0.098	0.16275	B	.	.	-0.347832	0.02414	0.271	0.55155276790365304	0.05284	0.16131	0.19245	N	AEBCI	0.059028	0.11117	N	-1.56396333905693	0.01455	0.06347697	-1.53735528506862	0.02064	0.09438551	0.999734206932483	0.42341	0.722319	0.85440	0	0.662677	0.63036	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.13	-1.96	0.07113	-0.103000	0.10909	.	.	-0.067000	0.16409	0.000000	0.06391	0.000000	0.08366	0.424000	0.27317	0.3651:0.0:0.0:0.6349	10.566	0.44360	427	0.81056	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2748.33	117	chr1	93877105	.	A	G	2748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=2432;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.4;SOR=0.858	GT:AD:DP:GQ:PL	0/1:103,103:206:99:2762,0,2524	18	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.05263	3652.81	33	chr1	94008251	.	C	T	3652.81	.	AC=2;AF=0.053;AN=38;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.94;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3680,366,0	18	1	0	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	0/1:94,23:117:99:.:.:181,0,2054:.	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,21:113:99:.:.:170,0,2206:.	11	0	8	0
chr1	100148310	100148310	G	C	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon10:c.G1234C:p.A412P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00528842248857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.246	0.23984	T	0.001	0.07471	B	0.003	0.08700	B	0.422321	0.12854	N	0.762388	1	0.08975	N	-0.085	0.04774	N	0.88	0.46028	T	0.24	0.04533	N	0.08	0.05542	-0.9737	0.36409	T	0.008	0.02638	T	10	0.045522988	0.03634	T	0.005288	0.13525	T	0.044	0.11924	0.515	0.61459	0.146414634003	0.14194	0.28426906089504617	0.28339	0.225039149249	0.25044	0.264206111431	0.05402	T	0.007325	0.06742	T	-0.3487	0.04810	T	-0.73866	0.03947	T	0.0550227239727974	0.06361	T	0.50095	0.15685	T	0.0481619	0.08350	0.05249793	0.08661	0.0481619	0.08349	0.05249793	0.08660	-4.035	0.24326	T	.	.	0.084	0.09627	B	.	.	-1.372289	0.00380	0.007	0.52460883964750504	0.04752	0.01587	0.05162	N	AEFBI	0.034813	0.04376	N	-1.7506546714819	0.00677	0.02922423	-1.7898991033341	0.00792	0.035341	0.999996009241885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.731467	0.93227	0	0.635551	0.53088	0	.	.	5.51	-8.81	0.00702	-3.041000	0.00696	-3.751000	0.02561	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3543:0.2034:0.1107:0.3316	0.664	0.00794	615	0.66512	Methyltransferase TRM13	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1481.33	33	chr1	100148310	.	G	C	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=743;ExcessHet=0;FS=5.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.918;SOR=1.264	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1495,0,1137	18	0	1	0
chr1	108759994	108759994	A	G	exonic	STXBP3	.	nonsynonymous SNV	STXBP3:NM_007269:exon6:c.A347G:p.D116G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.126012500825	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385065116	3.535e-06	5.473e-06	4.218e-06	2.844e-06	5.889e-05	1.04e-06	7.5e-07	9.75e-06	3.65e-06	0	5.889e-05	0	0	0	0	2.744e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.049529	0.999995	0.58761	D	2.14	0.59869	M	-1.18	0.78314	T	-5.27	0.84175	D	0.559	0.58373	0.310	0.87722	D	0.606	0.85995	D	10	0.74634826	0.75316	D	0.126013	0.80761	D	0.734	0.90721	0.548	0.66296	0.942405098619	0.94180	0.7910615272468318	0.79058	1.22315291198	0.81134	0.522309184074	0.41951	T	0.709782	0.91713	D	0.171284	0.71240	D	0.00826177	0.70870	D	0.994547490612751	0.85897	D	0.980402	0.93314	D	0.89589804	0.91019	0.8921022	0.94416	0.89589804	0.91020	0.8921022	0.94416	-9.503	0.70878	D	.	.	0.627	0.69987	P	.	.	4.896332	0.80441	27.3	0.998634784915022	0.94184	0.97101	0.72695	D	AEGBI	0.803519	0.72864	D	0.821286019918852	0.87419	9.211115	0.778709821455907	0.88275	9.522028	0.999993591454684	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.55	5.55	0.83298	7.428000	0.79479	11.171000	0.87970	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.352	0.74110	851	0.35303	.	.	.	.	.	.	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	1273.33	40	chr1	108759994	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=749;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.19;SOR=0.78	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1287,0,1203	18	0	1	0
chr1	108914398	108914398	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon11:c.C1253T:p.T418I,GPSM2:NM_001321039:exon11:c.C1253T:p.T418I,GPSM2:NM_013296:exon11:c.C1253T:p.T418I	Chudley-McCullough syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.162188824977	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330009114	6.183e-06	6.157e-06	6.839e-06	5.521e-06	6.711e-05	2.91e-06	2.11e-06	1.78e-05	8.93e-06	0	6.711e-05	0	0	0	0	4.518e-06	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.033	0.53072	D	0.899	0.49514	P	0.459	0.46380	P	0.000000	0.84330	D	0.051514	1	0.81001	D	2.32	0.66415	M	-3.38	0.94161	D	-4.51	0.78222	D	0.845	0.91852	0.695	0.93114	D	0.787	0.92772	D	10	0.6987003	0.72306	D	0.162189	0.84182	D	0.712	0.89741	0.291	0.25241	0.990285500119	0.99017	0.463996236321197	0.46318	0.868651874649	0.69322	0.696943700314	0.66703	T	0.437334	0.78339	T	0.276006	0.80970	D	0.241553	0.85220	D	0.961563408374786	0.66118	D	0.965703	0.87317	D	0.44176173	0.63516	0.44609007	0.67735	0.44176173	0.63516	0.44609007	0.67735	-4.526	0.31227	T	0.22955936997142865	0.31054	0.699	0.77941	P	.;.;.	.;.;.	4.684488	0.74992	26.3	0.99882940221615368	0.95892	0.99213	0.92899	D	AEFBI	0.745762	0.68834	D	0.680378300888972	0.78347	6.85317	0.721386786406012	0.84004	8.172445	0.999999999736624	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	6.397000	0.73165	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.583	0.99411	860	0.33753	.;.;.	.	.	.	.	.	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	2008.33	37	chr1	108914398	.	C	T	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.497;DP=870;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.637;SOR=0.606	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2022,0,1908	18	0	1	0
chr1	109367478	109367478	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon3:c.A370G:p.I124V	.	428	1080	12	2	0	16	0.00735294	.	.	.	2809059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	.	0.0043	0.00219649	0.0031	0.0009	0.0027	0	0	0.0043	0.0077	0.0025	0.0030142	466	154602	rs61797119	0.0038	0.0040	0.0038	0.0039	0.0252	0.0038	0.0037	0.0218	0.0206	0.0010	0.0032	0.0167	0	0.0006	0.0252	0.0039	0.0049	0.0021	0.0033	0.0034	0.0035	0.0031	0.0065	0.0031	0.0030	0.0055	0.0051	0.0011	0	0.0065	0.0184	0	0.0007	0.0306	0.0039	0.0052	0.0010	0.156	0.24090	T	0.16	0.31427	T	0.242	0.30930	B	0.071	0.27960	B	0.000073	0.52346	D	0.128203	0.994734	0.81001	D	1.32	0.33002	L	1.14	0.38397	T	-0.65	0.18877	N	0.144	0.14480	-1.0891	0.05684	T	0.030	0.12717	T	10	0.010013223	0.00224	T	.	.	.	0.020	0.03691	.	.	0.441323511866	0.43749	0.4379122996076935	0.43708	1.75258816871	0.91011	0.548451066017	0.45639	T	0.180169	0.53142	T	-0.494548	0.00613	T	-0.483168	0.24111	T	0.00511788713177906	0.00055	T	0.808919	0.45897	T	0.09460486	0.22247	0.056598093	0.10141	0.09460486	0.22246	0.056598093	0.10140	-5.427	0.41178	T	.	.	0.142	0.31304	B	.	.	2.412754	0.31014	18.61	0.99502179040847538	0.68089	0.75384	0.36907	D	AEFBI	0.200022	0.32678	N	-0.152309713924512	0.35136	2.014404	-0.0114272979051385	0.39198	2.320491	0.999592207771268	0.40745	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.41	4.29	0.50359	2.432000	0.44442	6.202000	0.54905	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0919:0.0:0.9081	8.027	0.29605	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.040404	0.019022	0.055556	0.000000	0.017241	0.000000	0.003788	0.02632	1326.33	44	chr1	109367478	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.541;SOR=0.722	GT:AD:DP:GQ:PL	0/1:31,60:91:99:1340,0,625	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,39:138:99:.:.:246,0,2285:.	7	0	10	2
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	0/1:84,17:101:25:.:.:25,0,1883:.	5	0	14	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2186.94	114	chr1	113590590	.	G	C	2186.94	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.133;DP=1393;ExcessHet=0.7564;FS=347.698;InbreedingCoeff=-0.3104;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.845;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,18:91:99:.:.:165,0,1985:.	5	0	4	10
chr1	114425560	114425560	A	C	exonic	TRIM33	.	nonsynonymous SNV	TRIM33:NM_015906:exon9:c.T1584G:p.H528Q,TRIM33:NM_033020:exon9:c.T1584G:p.H528Q	.	.	.	.	.	.	.	.	.	.	.	2264777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00648553813192	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs753197271	4.104e-06	4.104e-06	1.361e-06	6.875e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.02116	T	1.0	0.01155	T	0.002	0.12183	B	0.002	0.11217	B	0.002194	0.37053	N	0.318460	0.925301	0.42106	D	-0.295	0.03650	N	-0.65	0.72237	T	-0.34	0.12661	N	0.179	0.19325	-1.0808	0.07194	T	0.024	0.10148	T	10	0.05027309	0.04736	T	0.006486	0.17072	T	0.044	0.11924	0.303	0.27164	0.264728329957	0.26087	0.16907665737222827	0.16827	0.527645820895	0.50370	0.691351652145	0.65900	T	0.05217	0.29085	T	-0.114328	0.34056	T	-0.402	0.33151	T	0.0283241757056803	0.01735	T	0.786321	0.42853	T	0.034720384	0.03949	0.046891928	0.06637	0.034720384	0.03949	0.046891928	0.06636	-3.631	0.18306	T	.	.	0.086	0.16843	B	.;.	.;.	1.493067	0.19202	14.14	0.5955356411642585	0.06251	0.76453	0.37497	D	AEFBHI	0.127104	0.24432	N	-0.167380687406795	0.34498	1.969808	-0.0678696569203094	0.36726	2.141088	0.935364457585209	0.27210	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.36	0.28258	0.618000	0.24068	0.794000	0.21595	0.756000	0.94297	0.996000	0.39380	0.976000	0.30059	0.999000	0.91618	0.6018:0.1458:0.2523:0.0	5.405	0.15616	217	0.91564	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1795.33	46	chr1	114425560	.	A	C	1795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=856;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=1.04;SOR=0.877	GT:AD:DP:GQ:PL	0/1:87,71:158:99:1809,0,2163	18	0	1	0
chr1	116403930	116403930	G	A	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon22:c.G2998A:p.V1000I,ATP1A1:NM_001160233:exon22:c.G2998A:p.V1000I,ATP1A1:NM_001160234:exon22:c.G2905A:p.V969I	.	.	.	.	.	.	.	.	.	.	.	3137176	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.287	0.0162778777097	.	.	4.12e-05	0	8.637e-05	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs753827120	1.095e-05	1.094e-05	9.529e-06	1.238e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0.0007	8.993e-06	0	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	0.516	0.07354	T	0.62	0.07444	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	D	0.061993	0.998066	0.44470	D	0.025	0.08010	N	-3.76	0.95561	D	-0.17	0.09627	N	0.116	0.10483	-0.1945	0.77813	T	0.523	0.82206	D	10	0.18740433	0.34249	T	0.016278	0.37459	T	0.287	0.60574	0.412	0.44887	0.554237320764	0.55083	0.5570981241014228	0.55636	1.11663288113	0.78184	0.698992192745	0.66997	T	0.51112	0.82718	D	-0.121213	0.32925	T	-0.242763	0.50528	T	0.0699920795778073	0.08650	T	0.836816	0.50885	T	0.017211301	0.00254	0.042977434	0.05241	0.017211301	0.00254	0.042977434	0.05241	-2.746	0.07697	T	.	.	0.067	0.04396	B	.;.;.	.;.;.	2.592362	0.33630	19.40	0.97164411636495118	0.32647	0.85685	0.44845	D	AEFBCI	0.726582	0.67520	D	-0.274118814854026	0.30151	1.678545	-0.0524779490592832	0.37383	2.188103	0.999999922028258	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	1.052000	0.30039	7.549000	0.60236	-0.111000	0.15049	0.575000	0.27546	1.000000	0.68203	0.985000	0.61073	0.0795:0.0:0.9205:0.0	12.110	0.53133	793	0.45818	Cation-transporting P-type ATPase, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2192.33	33	chr1	116403930	.	G	A	2192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=843;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.702;SOR=0.863	GT:AD:DP:GQ:PL	0/1:106,104:210:99:2206,0,2352	18	0	1	0
chr1	119896204	119896204	T	C	exonic	ADAM30	.	nonsynonymous SNV	ADAM30:NM_021794:exon1:c.A133G:p.I45V	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0077	0.00339457	0.0077	0.0013	0.0092	0	0.0051	0.0113	0.0100	0.0013	0.0075808	1172	154602	rs41276636	0.0093	0.0093	0.0094	0.0091	0.0276	0.0091	0.0091	0.0241	0.0227	0.0018	0.0084	0.0065	0	0.0069	0.0276	0.0105	0.0095	0.0017	0.0069	0.0069	0.0071	0.0067	0.0105	0.0066	0.0064	0.0099	0.0096	0.0022	0.0055	0.0082	0.0046	0	0.0072	0.0204	0.0105	0.0071	0.0008	0.108	0.29420	T	0.416	0.14284	T	0.03	0.20002	B	0.118	0.32088	B	0.020639	0.26999	N	0.174153	1	0.08975	N	1.715	0.44382	L	3.29	0.06445	T	-0.57	0.17210	N	0.078	0.05287	-0.9430	0.42137	T	0.006	0.02055	T	10	0.009279966	0.00210	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.2646337002607105	0.26376	0.0985929584545	0.11141	0.307027518749	0.11458	T	0.019023	0.15229	T	-0.699267	0.00037	T	-0.764251	0.02962	T	0.00330747424112044	0.00035	T	0.428457	0.11587	T	0.048251387	0.08380	0.08230745	0.18774	0.048251387	0.08379	0.08230745	0.18773	-3.643	0.18481	T	.	.	0.084	0.09772	B	.	.	0.420978	0.07917	4.622	0.54091860532895053	0.05069	0.13818	0.18068	N	AEFDBCI	0.053553	0.09658	N	-1.0001240393164	0.08602	0.4039119	-1.010777633341	0.09547	0.4756418	0.999335932626452	0.39185	0.59774	0.34471	0	0.563428	0.19063	0	0.600433	0.31921	0	0.63947	0.58350	0	.	.	4.75	2.42	0.28720	0.167000	0.16419	-0.350000	0.09751	-0.204000	0.08590	0.004000	0.16614	0.000000	0.08366	0.018000	0.11154	0.0:0.1942:0.0:0.8058	6.497	0.21343	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	0.026687	0.045455	0.027174	0.032164	0.000000	0.034483	0.018293	0.007576	0.02632	1663.33	33	chr1	119896204	.	T	C	1663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.098;DP=799;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.55;SOR=0.897	GT:AD:DP:GQ:PL	0/1:67,76:143:99:1677,0,1607	18	0	1	0
chr1	120816630	120816630	A	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1388C:p.Q463P	.	523	990	9	0	0	9	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00103900310276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782021014	0.0005	0.0050	0.0004	0.0006	0.0023	0.0004	0.0004	0.0020	0.0018	0.0022	0.0015	0.0001	0.0003	0.0006	0	0.0003	0.0004	0.0023	0.0012	0.0087	0.0010	0.0015	0.0019	0.0010	0.0010	0.0010	0.0009	0.0014	0	0.0009	0.0008	0.0019	0.0013	0	0.0013	0.0026	0	.	.	.	0.204	0.62352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.359	0.40063	-1.0422	0.16651	T	0.021	0.08778	T	9	0.09983155	0.18143	T	3.87E-4	0.00065	T	.	.	.	.	0.0297737177859	0.01360	0.22769245963978335	0.22684	.	.	.	.	.	.	.	.	-0.0299573	0.47423	T	-0.280808	0.46722	T	0.0504873322125521	0.05584	T	0.615438	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.23255	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.863480	0.12360	8.898	0.91136521014520167	0.20390	0.00796	0.03248	N	AEFBI	0.135307	0.25560	N	-0.744164548179835	0.14792	0.7398978	-0.942789091635799	0.11091	0.5629054	0.0177842938130526	0.12989	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.811	0.811	0.17881	0.559000	0.23190	-4.145000	0.02317	0.101000	0.17621	0.150000	0.23655	0.000000	0.08366	0.433000	0.27516	1.0:0.0:0.0:0.0	3.935	0.08801	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	92.54	34	chr1	120816630	.	A	C	92.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.419;DP=507;ExcessHet=0.3892;FS=64.783;InbreedingCoeff=-0.1259;MLEAC=3;MLEAF=0.088;MQ=33.23;MQRankSum=-2.237;QD=1.71;ReadPosRankSum=1.75;SOR=4.97	GT:AD:DP:GQ:PL	0/1:2,2:4:37:38,0,37	14	0	3	2
chr1	120890245	120890245	T	C	exonic	PPIAL4A	.	nonsynonymous SNV	PPIAL4A:NM_001143883:exon1:c.T425C:p.M142T	.	472	1025	22	3	0	28	0.0134745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.00126325255168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386502682	4.894e-05	0.0006	1.5e-05	8.314e-05	0.0002	3.935e-05	3.585e-05	4.014e-05	3.582e-05	0	4.791e-05	0	0	7.641e-05	0.0002	5.096e-05	0	8.718e-05	7.958e-05	0.0003	6.832e-05	9.165e-05	0.0001	4.135e-05	3.003e-05	6.943e-05	5.061e-05	4.418e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.5466494	0.64021	D	.	.	.	.	.	.	.	.	.	0.5366552024640897	0.53590	.	.	.	.	.	0.042551	0.26220	T	.	.	.	.	.	.	.	.	.	0.340966	0.07383	T	.	.	.	.	.	.	.	.	-7.814	0.59795	D	.	.	0.181	0.39339	B	.	.	2.101660	0.26743	17.22	.	.	.	.	.	.	0.313368	0.41854	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.619000	0.67408	0.624000	0.20160	0.390000	0.20482	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	.	.	.	964	0.07719	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	173.92	36	chr1	120890245	.	T	C	173.92	.	AC=2;AF=0.053;AN=38;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.053;MQ=24;QD=24.85;SOR=4.174	GT:AD:DP:GQ:PL	1/1:0,7:7:21:201,21,0	18	1	0	0
chr1	145847674	145847674	C	T	exonic	NUDT17	.	nonsynonymous SNV	NUDT17:NM_001012758:exon6:c.C686T:p.T229I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00612171487142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.172	0.30241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.56	0.37759	N	0.273	0.30914	.	.	.	.	.	.	.	0.18109113	0.33324	T	.	.	.	.	.	.	.	.	.	0.7452700834494392	0.74473	.	.	.	.	.	0.018784	0.15081	T	.	.	.	.	.	.	.	.	.	0.692831	0.30243	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.142	0.31151	B	.	.	1.813414	0.23047	15.86	.	.	.	.	.	.	0.280132	0.39403	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.014000	0.49278	0.937000	0.22823	-0.175000	0.10903	0.926000	0.32145	0.000000	0.08366	0.757000	0.36037	.	.	.	.	.	NUDIX hydrolase domain|Nudix motif 17 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	914.33	36	chr1	145847674	.	C	T	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.393;DP=755;ExcessHet=0;FS=2.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.209;SOR=0.432	GT:AD:DP:GQ:PL	0/1:57,40:97:99:928,0,1379	18	0	1	0
chr1	146114488	146114488	-	GTCTTC	exonic	NBPF10	.	nonframeshift insertion	NBPF10:NM_001039703:exon29:c.3747_3748insGAAGAC:p.D1249_Q1250insED,NBPF10:NM_001302371:exon29:c.3747_3748insGAAGAC:p.D1249_Q1250insED	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204907619	0.0026	0.0017	0.0029	0.0023	0.0046	0.0023	0.0022	0.0030	0.0028	0.0029	0.0046	0	0	0.0004	0	0.0035	0.0030	0.0003	0.0015	0.0034	0.0028	0	0.0027	0.0003	0.0001	.	.	0.0015	.	0	0	0	0	0	0.0027	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	82.59	1	chr1	146114488	.	G	GGTCTTC	82.59	.	AC=2;AF=0.111;AN=18;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.167;MQ=21;QD=32.46;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:146114488_G_GGTCTTC:90,6,0:146114488	8	1	0	10
chr1	146114506	146114506	C	G	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon29:c.G3730C:p.E1244Q,NBPF10:NM_001302371:exon29:c.G3730C:p.E1244Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229394566	0.0026	0.0016	0.0029	0.0023	0.0039	0.0023	0.0022	0.0026	0.0024	0.0030	0.0039	0.0042	0.0020	0.0004	0	0.0030	0.0034	0.0007	0.0019	0.0041	0.0035	0	0.0038	0.0005	0.0003	0.0010	0.0006	0.0038	0	0	0	0	0	0	0	0	0	.	.	.	0.56	0.09113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.088457644	0.15232	T	.	.	.	.	.	.	.	.	.	0.0025566889453544146	0.00237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631037	0.24617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14431	B	.	.	-0.165060	0.03273	0.559	.	.	.	.	.	.	0.029905	0.02908	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069000	0.14419	-2.483000	0.03699	-1.662000	0.00812	0.348000	0.25742	0.000000	0.08366	0.148000	0.20235	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	44.27	2	chr1	146114506	.	C	G	44.27	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=21;QD=22.13;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:146114488_G_GGTCTTC:51,6,0:146114488	7	1	0	11
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	0/1:492,136:628:99:2147,0,13144	8	0	11	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	378.35	9	chr1	149488149	.	G	C	378.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=37.49;MQRankSum=-1.723;QD=12.2;ReadPosRankSum=-0.281;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,13:31:99:392,0,550	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,26:291:99:1|0:152214800_C_T:264,0,10945:152214800	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,26:291:99:1|0:152214800_C_T:264,0,10945:152214800	9	0	10	0
chr1	152216246	152216246	G	-	exonic	HRNR	.	frameshift deletion	HRNR:NM_001009931:exon3:c.5383delC:p.Q1795Rfs*196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409459370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.686e-06	6.596e-06	0	1.371e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	558.29	118	chr1	152216245	.	TG	T	558.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.748;DP=6502;ExcessHet=0;FS=49.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.18;MQRankSum=-0.366;QD=2.53;ReadPosRankSum=0.908;SOR=5.654	GT:AD:DP:GQ:PL	0/1:188,33:221:99:572,0,6355	18	0	1	0
chr1	152355180	152355180	G	A	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.C2606T:p.S869F	.	460	1018	6	37	1	81	0.0378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.0421326	3.471e-05	0	9.814e-05	0	0	3.074e-05	0	6.602e-05	0.0014165	219	154602	rs34309186	0.0003	0.0011	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	3.035e-05	0.0003	0.0012	0.0009	0.0004	0	0.0001	0.0004	0.0018	0.0002	0.0008	0.0002	0.0001	0.0007	0.0001	9.462e-05	0.0001	6.591e-05	0.0001	0	0	0.0005	0.0005	0.0004	0	0.0002	0	0.0007	0.042	0.41637	D	0.049	0.48336	D	0.999	0.77913	D	0.921	0.65636	D	.	.	.	.	1	0.08975	N	1.775	0.45938	L	2.76	0.11515	T	-3.97	0.73684	D	0.114	0.10198	-1.1202	0.02319	T	0.037	0.15986	T	9	0.0054998696	0.00121	T	.	.	.	0.069	0.20116	.	.	0.315314060047	0.31143	0.15468526534841695	0.15389	0.0269450213889	0.02755	0.60628849268	0.53792	T	0.024721	0.18622	T	-0.251896	0.13867	T	-0.599607	0.12845	T	0.395372569561005	0.28767	T	0.332367	0.07003	T	0.14700648	0.33625	0.16856183	0.38825	0.14700648	0.33625	0.16856183	0.38824	-6.683	0.51682	T	.	.	0.399	0.59499	A	.	.	2.138798	0.27237	17.39	0.96483086211757407	0.29977	0.07754	0.13754	N	AEFGBI	0.075315	0.15122	N	-0.0215131862612841	0.40883	2.435619	-0.245400858022868	0.29930	1.680899	4.77048163708572E-4	0.07095	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	3.46	3.46	0.38718	1.665000	0.37066	.	.	0.569000	0.28856	0.089000	0.22556	0.001000	0.17328	0.004000	0.06068	0.0:0.0:1.0:0.0	12.503	0.55309	562	0.71143	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.04545	1443.41	617	chr1	152355180	.	G	A	1443.41	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.43;DP=4963;ExcessHet=0;FS=33.054;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.091;MQ=59.04;MQRankSum=-14.03;QD=3.05;ReadPosRankSum=-7.842;SOR=3.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:410,64:474:99:0|1:152355176_G_T:1453,0,16984:152355176	10	0	1	8
chr1	152787513	152787513	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G214A:p.G72R	.	413	1066	39	4	0	47	0.0215695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00207463516295	0.0036	0.00159744	0.0048	0.0012	0.0038	0.0001	0.0032	0.0069	0.0089	0.0019	0.0042237	653	154602	rs148840667	0.0042	0.0042	0.0042	0.0043	0.0339	0.0042	0.0041	0.0300	0.0285	0.0010	0.0051	0.0285	2.519e-05	0.0040	0.0339	0.0037	0.0071	0.0030	0.0043	0.0043	0.0040	0.0046	0.0084	0.0040	0.0039	0.0072	0.0067	0.0007	0.0022	0.0084	0.0279	0.0002	0.0039	0.0238	0.0046	0.0099	0.0015	.	.	.	0.051	0.57587	T	0.997	0.70673	D	0.938	0.67350	D	0.052066	0.22926	N	0.222152	0.969984	0.25727	N	2.25	0.63811	M	3.68	0.04151	T	-1.88	0.43906	N	0.436	0.52029	-1.0889	0.05718	T	0.020	0.08500	T	10	0.008031726	0.00182	T	0.002075	0.03801	T	0.043	0.11576	0.175	0.08135	0.481321013822	0.47762	0.013290108626746108	0.01287	0.00415157904713	0.00368	0.458572030067	0.33115	T	0.008196	0.07540	T	-0.495427	0.00607	T	-0.482781	0.24152	T	0.0218803990945803	0.00896	T	0.291471	0.05330	T	0.5777508	0.71485	0.5177344	0.72136	0.5777508	0.71486	0.5177344	0.72136	-9.404	0.70260	D	.	.	0.223	0.46733	B	.;.;.	.;.;.	1.835216	0.23315	15.97	0.90672521180524235	0.19923	0.80367	0.40024	D	AEFBI	0.092124	0.18654	N	0.333941297055397	0.57897	3.959134	0.223333107658521	0.51145	3.29961	0.00429983819074504	0.10491	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	3.12	0.34986	2.012000	0.40551	.	.	0.563000	0.28513	0.996000	0.39380	0.003000	0.18671	0.648000	0.32638	0.0:0.0:0.779:0.221	9.013	0.35317	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027630	0.020202	0.035422	0.065574	0.000000	0.017241	0.018519	0.003788	0.02632	1246.33	80	chr1	152787513	.	G	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=1087;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-4.68;QD=14;ReadPosRankSum=-0.418;SOR=0.557	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1260,0,1081	18	0	1	0
chr1	153347932	153347932	T	A	exonic	PGLYRP4	.	startloss	PGLYRP4:NM_020393:exon2:c.A1T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023429425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-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	0.96	0.55278	D	0.924	0.65913	D	0.209952	0.16390	N	0.490245	1	0.81001	D	.	.	.	3.48	0.05130	T	-0.85	0.23372	N	0.735	0.74918	-1.1575	0.00818	T	0.028	0.12147	T	9	0.9721509	0.96850	D	0.160647	0.84060	D	0.249	0.55752	0.903	0.97901	0.442466506703	0.43865	0.3059679146464674	0.30509	.	.	.	.	.	0.132492	0.46260	T	0.163416	0.70517	D	-0.00304099	0.70139	D	0.988653719425201	0.78959	D	0.9	0.65058	D	0.9300895	0.94246	0.7241401	0.83707	0.9300895	0.94247	0.7241401	0.83708	-7.089	0.54681	T	.	.	.	.	.	.;.	.;.	1.995372	0.25349	16.73	0.96536245455976655	0.30168	0.67812	0.33569	D	AEFBI	0.019285	0.00656	N	0.123418340542721	0.47556	2.979742	0.0954159337662976	0.44319	2.715843	0.946600180555488	0.27714	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	1.551000	0.35841	2.869000	0.35254	0.665000	0.62972	0.963000	0.33788	0.999000	0.35428	0.067000	0.16453	0.0:0.0:0.0:1.0	8.499	0.32308	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	831.33	36	chr1	153347932	.	T	A	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-1.248;SOR=0.763	GT:AD:DP:GQ:PL	0/1:44,37:81:99:845,0,1688	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:101,61:169:99:325,0,1339	7	0	10	2
chr1	155282579	155282579	C	-	exonic	HCN3	.	frameshift deletion	HCN3:NM_020897:exon2:c.447delC:p.I149Mfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3478.29	33	chr1	155282578	.	TC	T	3478.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.698;DP=872;ExcessHet=0;FS=0.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.723;SOR=0.633	GT:AD:DP:GQ:PL	0/1:121,103:224:99:3492,0,4216	18	0	1	0
chr1	161074349	161074349	T	A	exonic	NECTIN4	.	nonsynonymous SNV	NECTIN4:NM_030916:exon6:c.A1025T:p.Q342L	Ectodermal dysplasia-syndactyly syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0234997288902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.149	0.32568	T	0.011	0.15914	B	0.01	0.14941	B	0.325115	0.14206	N	0.622655	0.643317	0.31572	N	.	.	.	1.14	0.38397	T	-2.1	0.47852	N	0.343	0.38438	-1.0215	0.23227	T	0.019	0.07893	T	10	0.14189649	0.26957	T	0.024	0.46463	T	0.035	0.08770	0.338	0.32816	0.50466331119	0.50103	0.4609312171806985	0.46011	0.483913800364	0.47323	0.407595574856	0.26123	T	0.011471	0.10227	T	-0.195286	0.21487	T	-0.518291	0.20469	T	0.155314415550279	0.17519	T	0.747125	0.36767	T	0.11654812	0.27487	0.081719846	0.18595	0.11654812	0.27487	0.081719846	0.18594	-4.191	0.26621	T	0.3203630950212392	0.41848	0.133	0.28693	B	.	.	2.832759	0.37348	20.5	0.97834243423398459	0.36285	0.75611	0.37029	D	AEFBCI	0.300509	0.40928	N	-0.398326017109196	0.25529	1.386469	-0.195085953234825	0.31717	1.797577	0.999955044946054	0.48110	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.79	3.57	0.40014	1.149000	0.31238	1.688000	0.28053	0.651000	0.53179	0.995000	0.38783	0.999000	0.35428	0.991000	0.66497	0.0:0.0:0.2057:0.7943	8.065	0.29818	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	896.33	34	chr1	161074349	.	T	A	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=707;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.86;SOR=0.928	GT:AD:DP:GQ:PL	0/1:43,33:76:99:910,0,962	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	0/1:65,26:99:57:57,0,987	14	0	3	2
chr1	173909585	173909585	C	T	exonic	SERPINC1	.	nonsynonymous SNV	SERPINC1:NM_000488:exon5:c.G1120A:p.D374N,SERPINC1:NM_001365052:exon6:c.G976A:p.D326N	Thrombophilia due to antithrombin III deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.076090894266	.	.	8.275e-06	0	8.658e-05	0	0	0	0	0	6.5e-06	1	154602	rs775413132	1.231e-05	1.231e-05	1.089e-05	1.375e-05	6.708e-05	7.7e-06	6.35e-06	1.779e-05	8.93e-06	0	6.708e-05	3.826e-05	0	0	0	1.169e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.041	0.50514	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.285	0.65182	M	-1.82	0.84047	D	-4.36	0.76980	D	0.765	0.76296	0.554	0.91287	D	0.740	0.91105	D	10	0.95698786	0.95068	D	0.076091	0.72447	D	0.618	0.85144	0.819	0.93262	0.851064378852	0.84963	0.7740523855108556	0.77355	0.828958284525	0.67545	0.550216257572	0.45888	T	0.85115	0.96614	D	0.000473715	0.51719	T	-0.237096	0.51083	T	0.989082932472229	0.79345	D	0.939006	0.77019	D	0.8974274	0.91154	0.69146323	0.81843	0.8974274	0.91156	0.69146323	0.81844	-7.063	0.54493	T	0.4297956168391957	0.51712	0.128	0.27343	B	.	.	4.958564	0.81967	27.7	0.99920305520986286	0.98721	0.99300	0.94167	D	AEFGI	0.909335	0.86584	D	0.707066558173561	0.80096	7.219159	0.634462958577888	0.77459	6.683333	0.999999997138741	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	5.718000	0.68103	7.709000	0.66702	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:1.0:0.0:0.0	18.688	0.91532	164	0.93620	Serpin domain|Serpin domain|Antithrombin serpin 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	845.33	33	chr1	173909585	.	C	T	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=738;ExcessHet=0;FS=3.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-2.169;SOR=1.156	GT:AD:DP:GQ:PL	0/1:56,34:90:99:859,0,1375	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|1:0,30:67:99:1|0:175160809_TC_T:2485,1129,1462:175160809	9	2	8	0
chr1	179445199	179445199	A	G	exonic	AXDND1	.	nonsynonymous SNV	AXDND1:NM_144696:exon16:c.A1793G:p.D598G	.	1	224	1	0	0	1	0.00222717	.	.	.	3294345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0084189837111	0.0002	0.000199681	4.735e-05	0.0003	0	0	0	4.312e-05	0	0	3.23e-05	5	154602	rs145068225	5.741e-05	5.612e-05	4.708e-05	6.786e-05	0.0039	4.696e-05	4.35e-05	0.0027	0.0023	0.0010	5.025e-05	0	0	0	0.0039	1.313e-05	0.0002	2.567e-05	8.541e-05	8.531e-05	7.713e-05	9.405e-05	0.0002	4.956e-05	3.962e-05	0.0001	9.917e-05	0.0002	0	0	0	0	0	0	4.414e-05	0	0	0.007	0.59928	D	0.011	0.64786	D	0.999	0.77913	D	0.941	0.67658	D	0.006566	0.31942	N	0.351085	0.999997	0.08975	N	2.215	0.62545	M	2.17	0.19166	T	-3.99	0.73893	D	0.666	0.67477	-0.9823	0.34468	T	0.119	0.41648	T	10	0.22601306	0.39446	T	0.008419	0.22282	T	0.174	0.44019	.	.	0.390374949789	0.38653	0.21080033038364202	0.20996	0.0486109836522	0.05311	0.529408931732	0.42951	T	0.080204	0.36309	T	-0.32852	0.06224	T	-0.419529	0.31129	T	0.684593856334686	0.39999	D	0.763824	0.39073	T	0.30771142	0.53587	0.34869105	0.60505	0.30771142	0.53587	0.34869105	0.60505	-5.103	0.37939	T	.	.	0.445	0.61973	A	.;.	.;.	4.506743	0.70541	25.5	0.99688228620229713	0.79775	0.91340	0.53336	D	AEFI	0.526264	0.54869	D	0.297202066087977	0.56005	3.764871	0.280925086985247	0.54428	3.607658	0.0138725845800846	0.12522	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	5.163000	0.64791	11.058000	0.85397	0.743000	0.86499	0.998000	0.41325	1.000000	0.68203	0.384000	0.26424	1.0:0.0:0.0:0.0	12.558	0.55613	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003532	0.000000	0.006812	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	512.33	29	chr1	179445199	.	A	G	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=617;ExcessHet=0;FS=1.231;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.825;SOR=0.941	GT:AD:DP:GQ:PL	0/1:28,19:47:99:526,0,734	18	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	114.16	65	chr1	180014239	.	G	C	114.16	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.228;DP=1733;ExcessHet=0.3672;FS=234.926;InbreedingCoeff=-0.1582;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.066;SOR=11.592	GT:AD:DP:GQ:PL	0/1:68,18:94:73:73,0,1392	13	0	3	3
chr1	180182310	180182310	G	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon6:c.G743A:p.R248Q,QSOX1:NM_002826:exon6:c.G743A:p.R248Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0158967385131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968998313	6.841e-06	6.84e-06	2.722e-06	1.1e-05	8.961e-05	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	1.872e-05	0	5.396e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.198	0.20532	T	0.185	0.28958	T	0.188	0.48618	B	0.034	0.35644	B	0.000004	0.62929	D	0.102688	0.999026	0.45899	D	2.015	0.55033	M	3.57	0.16640	T	-1.92	0.44657	N	0.546	0.57263	-1.0611	0.11483	T	0.032	0.13723	T	10	0.18493035	0.33890	T	0.015897	0.36884	T	0.108	0.30607	0.411	0.44723	0.206339911435	0.20273	0.5299405699990908	0.52918	0.229058174001	0.25467	0.388530611992	0.23463	T	0.02968	0.21214	T	-0.315502	0.07272	T	-0.509445	0.21372	T	0.699597656726837	0.40700	D	0.814918	0.46941	T	0.19268267	0.40947	0.14373492	0.34149	0.19268267	0.40947	0.14373492	0.34148	-6.31	0.48801	T	.	.	0.127	0.26917	B	.;.	.;.	2.841665	0.37494	20.5	0.98280810206770663	0.39852	0.96134	0.67688	D	AEFBI	0.470942	0.51669	N	-0.353050241088467	0.27161	1.487937	-0.337631383984807	0.26895	1.488554	0.998281758775479	0.36695	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	3.726000	0.54704	2.630000	0.33687	-0.128000	0.13240	0.987000	0.36337	0.971000	0.29754	0.109000	0.18697	0.0806:0.0:0.9194:0.0	12.165	0.53433	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	.	.	.	.	.	.	.	.	0.02632	1963.33	34	chr1	180182310	.	G	A	1963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.22;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.475;SOR=0.746	GT:AD:DP:GQ:PL	0/1:64,80:144:99:1977,0,1440	18	0	1	0
chr1	203503694	203503694	C	T	exonic	OPTC	.	nonsynonymous SNV	OPTC:NM_014359:exon7:c.C973T:p.R325W	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	.	0.0051	0.00319489	0.0065	0.0017	0.0021	0.0046	0.0148	0.0083	0.0080	0.0029	0.0061772	955	154602	rs56219555	0.0066	0.0066	0.0067	0.0065	0.0072	0.0065	0.0065	0.0071	0.0070	0.0008	0.0020	0.0015	0.0034	0.0147	0.0010	0.0072	0.0049	0.0033	0.0049	0.0049	0.0048	0.0051	0.0075	0.0046	0.0045	0.0069	0.0067	0.0010	0	0.0010	0.0006	0.0050	0.0135	0	0.0075	0.0038	0.0019	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999971	0.53665	D	2.345	0.67358	M	0.29	0.58897	T	-6.25	0.90568	D	0.648	0.65930	-0.3637	0.73153	T	0.289	0.66123	T	10	0.012722611	0.00272	T	.	.	.	0.354	0.67510	.	.	0.827114277101	0.82548	0.6630259677918089	0.66239	0.486860026487	0.47529	0.353271991014	0.18402	T	0.331323	0.70141	T	-0.103863	0.35785	T	0.0849958	0.75911	D	0.0360213098906597	0.02985	T	0.991934	0.97468	D	0.7049123	0.78326	0.5455676	0.73732	0.7049123	0.78328	0.5455676	0.73732	-11.789	0.83807	D	.	.	0.345	0.56278	A	.	.	4.229351	0.64035	24.7	0.999158959674734	0.98379	0.96471	0.69303	D	AEFGBI	0.553805	0.56491	D	0.462054239714377	0.64889	4.754066	0.364844521834238	0.59406	4.11823	0.9999937499124	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.25	3.32	0.37134	2.063000	0.41049	0.261000	0.16544	0.580000	0.29708	0.924000	0.32081	0.012000	0.20211	0.973000	0.55318	0.1739:0.8261:0.0:0.0	12.067	0.52892	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1211.33	33	chr1	203503694	.	C	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.377;DP=736;ExcessHet=0;FS=3.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.643;SOR=0.386	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1225,0,1290	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	0/1:108,48:156:99:.:.:548,0,2438:.	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,31:157:37:.:.:37,0,3978:.	9	0	10	0
chr1	204618860	204618860	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1133A:p.R378H,LRRN2:NM_006338:exon3:c.G1133A:p.R378H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00792511533439	.	.	4.126e-05	9.649e-05	0.0002	0	0	3.004e-05	0	0	3.23e-05	5	154602	rs746694908	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.31e-05	3.001e-05	8.861e-05	6.427e-05	5.974e-05	0.0002	0	0	1.874e-05	0	4.227e-05	1.656e-05	2.319e-05	4.599e-05	4.597e-05	3.854e-05	5.38e-05	9.65e-05	2.109e-05	1.527e-05	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	4.41e-05	0	0	0.279	0.15561	T	0.091	0.40110	T	0.986	0.61523	D	0.557	0.49454	P	0.000506	0.43753	D	0.000000	0.999976	0.53665	D	1.31	0.32734	L	1.8	0.25344	T	-2.05	0.47008	N	0.164	0.19861	-1.1554	0.00873	T	0.069	0.28180	T	10	0.281725	0.45750	T	0.007925	0.21007	T	0.146	0.38789	0.606	0.73825	0.449572021084	0.44577	0.5659225341303383	0.56520	0.695304082111	0.60807	0.720228552818	0.70080	T	0.067673	0.33262	T	-0.296961	0.08950	T	-0.379627	0.35766	T	0.142566427588463	0.16493	T	0.913209	0.69058	D	0.1124052	0.26555	0.07395611	0.16127	0.1124052	0.26554	0.07395611	0.16127	-5.236	0.39305	T	.	.	0.151	0.33664	B	.;.;.	.;.;.	5.174544	0.86744	29.0	0.99523354807942532	0.69407	0.89418	0.49870	D	AEFDBI	0.396314	0.47283	N	0.430268344245058	0.63094	4.536664	0.492840094339157	0.67515	5.094	0.999999995693268	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	3.280000	0.51382	7.695000	0.65987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9242:0.0:0.0758	12.743	0.56635	768	0.49510	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	170	chr1	204618860	.	C	T	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.411;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.04;SOR=0.682	GT:AD:DP:GQ:PL	0/1:98,102:200:99:2369,0,2416	18	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G,FAM72A:NM_001385243:exon2:c.A49G:p.R17G,FAM72A:NM_001385244:exon2:c.A49G:p.R17G,FAM72A:NM_001385245:exon2:c.A49G:p.R17G	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	104.36	20	chr1	206203947	.	T	C	104.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=248;ExcessHet=0;FS=0;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.026;MQ=29.61;MQRankSum=0.293;QD=6.52;ReadPosRankSum=0.511;SOR=1.445	GT:AD:DP:GQ:PL	0/1:11,5:16:99:118,0,264	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|1:71,16:87:99:0|1:212100360_A_G:128,0,2848:212100360	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|1:71,16:87:99:0|1:212100360_A_G:128,0,2848:212100360	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|1:71,16:87:99:0|1:212100360_A_G:128,0,2848:212100360	12	0	7	0
chr1	219609841	219609841	G	A	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.C2222T:p.P741L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227394738	3.831e-05	5.267e-05	3.404e-05	4.264e-05	0.0010	3.026e-05	2.72e-05	0.0008	0.0007	0	4.473e-05	0	0.0010	0	0	6.296e-06	8.282e-05	1.159e-05	9.841e-05	0.0001	0.0001	6.708e-05	0.0025	5.998e-05	4.873e-05	0.0015	0.0012	0	0	6.531e-05	0	0.0025	0	0	1.47e-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	.	.	.	.	.	.	.	.	0.05263	4530.83	33	chr1	219609841	.	G	A	4530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.88;DP=2571;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=48.27;MQRankSum=4.13;QD=4.09;ReadPosRankSum=1.65;SOR=0.691	GT:AD:DP:GQ:PL	0/1:409,113:522:99:1816,0,9855	17	0	2	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	0/1:77,29:115:11:11,0,1180	8	0	11	0
chr1	220661955	220661955	A	T	exonic	MARK1	.	nonsynonymous SNV	MARK1:NM_001286128:exon16:c.A2066T:p.D689V,MARK1:NM_001286126:exon17:c.A2132T:p.D711V,MARK1:NM_001286124:exon18:c.A2180T:p.D727V,MARK1:NM_018650:exon18:c.A2177T:p.D726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0427935980584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.19	0.60236	T	-7.84	0.96032	D	0.725	0.80180	-0.0783	0.80591	T	0.435	0.77549	T	10	0.8325881	0.82420	D	0.042794	0.60651	D	0.593	0.83802	0.515	0.61459	0.796667531515	0.79477	0.8498338097789934	0.84945	2.34469087129	0.96774	0.816968083382	0.84563	D	0.133203	0.65542	T	0.321696	0.84590	D	0.224318	0.84389	D	0.997808396816254	0.92464	D	0.992817	0.97631	D	0.91174763	0.92458	0.8717731	0.92989	0.91174763	0.92459	0.8717731	0.92989	-13.224	0.90264	D	.	.	0.905	0.84980	P	.;.;.;.	.;.;.;.	4.807357	0.78165	26.8	0.99420472891736111	0.63742	0.98985	0.89557	D	AEFGBI	0.896029	0.83668	D	0.937202747926658	0.93459	12.05367	0.922425219049642	0.96477	14.74518	0.999999882168978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.16	6.16	0.99302	9.325000	0.96006	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.806	0.85530	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33	chr1	220661955	.	A	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.071;DP=789;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.56;SOR=0.645	GT:AD:DP:GQ:PL	0/1:85,78:163:99:1904,0,2102	18	0	1	0
chr1	226736288	226736288	T	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.A1171G:p.K391E	.	414	1100	7	1	0	9	0.00407424	.	.	.	2393870	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00264702403801	.	0.000399361	0.0002	0	8.693e-05	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs569859868	6.69e-05	6.909e-05	4.938e-05	8.462e-05	0.0006	5.607e-05	5.195e-05	0.0005	0.0004	0	9.457e-05	0	5.048e-05	0	0.0004	2.709e-05	0.0001	0.0006	5.25e-05	5.249e-05	0	0.0001	0.0010	2.554e-05	1.828e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.41e-05	0	0.0010	0.757	0.05214	T	1.0	0.03286	T	0.0	0.02946	B	0.0	0.01387	B	0.311020	0.04015	N	1.449680	1	0.08975	N	-0.55	0.02420	N	1.96	0.23082	T	0.01	0.13611	N	0.014	0.00825	-1.0138	0.25720	T	0.021	0.08824	T	10	0.00960806	0.00216	T	0.002647	0.05406	T	0.011	0.01250	0.306	0.27646	0.260580752073	0.25663	0.07987637907614702	0.07922	0.273909488683	0.29889	0.26229763031	0.05166	T	0.031555	0.22093	T	-0.676178	0.00051	T	-0.844897	0.01028	T	0.0213337987040435	0.00836	T	0.390061	0.09662	T	0.045435708	0.07435	0.050167084	0.07818	0.045435708	0.07434	0.050167084	0.07817	-2.833	0.09153	T	.	.	0.065	0.17953	B	.;.;.	.;.;.	-1.747579	0.00176	0.003	0.63055404475333732	0.07123	0.00869	0.03447	N	AEFDBHCIJ	0.038723	0.05520	N	-1.94687670467179	0.00274	0.01176996	-2.01773183684792	0.00281	0.01239709	0.999999999885092	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.8	-9.6	0.00464	-6.125000	0.00097	-5.452000	0.01713	-0.252000	0.07121	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.0:0.1701:0.2059:0.624	8.983	0.35136	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	550.33	78	chr1	226736288	.	T	C	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=1221;ExcessHet=0;FS=3.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-1.792;SOR=0.81	GT:AD:DP:GQ:PL	0/1:51,25:76:99:564,0,1277	18	0	1	0
chr1	228365001	228365001	C	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon81:c.C18862G:p.Q6288E,OBSCN:NM_001271223:exon92:c.C21733G:p.Q7245E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0107266972215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.042e-07	6.84e-07	0	1.423e-06	9.162e-07	0	0	.	.	0	0	0	0	0	0	9.162e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.489	0.12351	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	0.08	0.61559	T	-1.21	0.30762	N	0.189	0.22357	-1.0094	0.27105	T	0.057	0.24092	T	9	0.0825524	0.13637	T	0.010727	0.27599	T	0.038	0.09825	0.236	0.16608	0.567821670524	0.56447	0.1330185531914331	0.13225	0.111295359822	0.12556	0.342922329903	0.16874	T	0.021592	0.16786	T	-0.183664	0.23193	T	-0.501597	0.22181	T	0.0624157500403294	0.07544	T	0.683732	0.29211	T	0.15032248	0.34226	0.077020645	0.17116	0.15032248	0.34226	0.077020645	0.17116	-3.056	0.10798	T	.	.	0.075	0.05623	B	.;.;.;.	.;.;.;.	0.552632	0.09211	5.995	0.39353592455408437	0.02710	0.03942	0.09338	N	AEFDBI	0.038608	0.05489	N	-0.71983029662454	0.15466	0.7795887	-0.864269158284977	0.12944	0.6688342	0.496366904048156	0.20906	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.95	0.96	0.18753	1.290000	0.32925	0.896000	0.22511	0.549000	0.26987	0.001000	0.13787	0.002000	0.18203	0.081000	0.17303	0.0:0.548:0.452:0.0	8.883	0.34546	428	0.80967	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1489.33	33	chr1	228365001	.	C	G	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=770;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.949;SOR=0.727	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1503,0,1555	18	0	1	0
chr1	236017204	236017204	G	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.C2198A:p.T733N	.	423	1092	7	0	0	7	0.00319489	.	.	.	732285	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.488	0.142580581109	0.0020	0.000199681	0.0026	0.0004	0.0010	0	0.0048	0.0035	0.0066	0.0019	0.0024838	384	154602	rs141204959	0.0028	0.0028	0.0029	0.0028	0.0031	0.0028	0.0027	0.0030	0.0030	0.0005	0.0008	3.826e-05	2.519e-05	0.0063	0.0017	0.0031	0.0022	0.0020	0.0023	0.0023	0.0022	0.0025	0.0039	0.0021	0.0021	0.0035	0.0034	0.0004	0.0175	0.0004	0	0	0.0041	0	0.0039	0.0009	0.0019	0.01	0.56456	D	0.025	0.56192	D	0.979	0.59044	D	0.875	0.62107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-3.09	0.92613	D	-1.76	0.41618	N	0.605	0.62273	0.610	0.92032	D	0.737	0.91019	D	10	0.023621142	0.00624	T	0.142581	0.82495	D	0.488	0.77592	.	.	0.925069995079	0.92430	0.7210160555664545	0.72044	0.852806470828	0.68627	0.449434041977	0.31867	T	0.35152	0.71908	T	-0.180027	0.23730	T	-0.0295913	0.68395	D	0.0360478000499672	0.02990	T	0.923508	0.72088	D	0.37735185	0.59124	0.36034432	0.61477	0.35765234	0.57657	0.36087397	0.61521	-9.619	0.71597	D	0.4640943000248189	0.54576	0.189	0.40650	B	.	.	4.497421	0.70306	25.5	0.9946751821160964	0.66154	0.95739	0.65948	D	AEFBCI	0.930212	0.91717	D	0.583722486438857	0.72159	5.762016	0.664978981035636	0.79731	7.144608	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.308000	0.65557	8.515000	0.77403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	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	0.003049	0.000000	0.02632	952.33	33	chr1	236017204	.	G	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.456;DP=859;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.38;SOR=0.81	GT:AD:DP:GQ:PL	0/1:76,45:121:99:966,0,1886	18	0	1	0
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A	.	431	954	137	0	0	137	0.0669927	.	.	.	3567362	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	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	.	.	.	.	.	.	.	.	0.05263	672.83	301	chr1	247949492	.	G	C	672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.47;DP=4311;ExcessHet=0.119;FS=27.988;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.69;MQRankSum=-0.117;QD=1.38;ReadPosRankSum=-6.163;SOR=3.321	GT:AD:DP:GQ:PL	0/1:213,24:237:99:145,0,6249	17	0	2	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	429	980	106	7	0	120	0.0576923	.	.	.	250315	not_specified|Anterior_segment_dysgenesis_7|not_provided	MedGen:CN169374|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase 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	0.055388	0.030303	0.054348	0.093567	0.000000	0.094828	0.057927	0.030303	0.1053	6848.43	177	chr2	1643470	.	C	A	6848.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.192;DP=1214;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.474;SOR=0.73	GT:AD:DP:GQ:PL	0/1:87,64:151:99:1465,0,2232	15	0	4	0
chr2	10080109	10080109	G	A	exonic	CYS1	.	nonsynonymous SNV	CYS1:NM_001037160:exon1:c.C115T:p.P39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00421334204261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371700952	1.137e-06	6.91e-05	2.136e-06	0	0.0003	0	0	.	.	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.399	0.15059	T	0.84	0.46486	P	0.184	0.35999	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.79	0.21860	N	0.032	0.00825	-1.0356	0.18668	T	0.035	0.14857	T	8	0.13852185	0.26344	T	0.004213	0.10153	T	0.017	0.02790	0.342	0.33464	0.0611884634855	0.05136	0.04306581180124222	0.04251	0.1364358858	0.15394	0.650595545769	0.60070	T	0.529366	0.83685	D	-0.262853	0.12569	T	-0.615346	0.11554	T	0.0463097532928028	0.04841	T	0.30127	0.05674	T	0.045678508	0.07518	0.059973694	0.11346	0.045678508	0.07518	0.059973694	0.11346	-4.05	0.24549	T	.	.	0.079	0.07507	B	.	.	0.007734	0.04336	1.103	0.87950059278364734	0.17603	0.00115	0.00727	N	AEFDBHCI	0.028579	0.02542	N	-0.81269255193085	0.12985	0.6366258	-0.998186377630273	0.09825	0.4911229	0.999999920222225	0.74766	0.495885	0.18260	0	0.166054	0.03914	2	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.27	-0.104	0.12943	-1.095000	0.03466	0.150000	0.15280	-0.334000	0.05750	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.0:0.4225:0.5774:0.0	4.501	0.11275	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	86.18	2	chr2	10080109	.	G	A	86.18	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=112;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.067;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-1.383;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:10080091_C_G:78,0,78:10080091	17	0	2	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	0/1:46,21:67:36:.:.:36,0,529:.	2	0	17	0
chr2	23895852	23895852	C	A	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon2:c.G335T:p.R112L,ATAD2B:NM_001354107:exon2:c.G335T:p.R112L,ATAD2B:NM_017552:exon2:c.G335T:p.R112L	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.200259960182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.227	0.25362	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.99964	0.48019	D	.	.	.	-3.47	0.94546	D	-2.24	0.56945	N	0.741	0.74098	0.604	0.91953	D	0.789	0.92850	D	9	0.5552719	0.64482	D	0.20026	0.86699	D	0.524	0.79825	0.312	0.28612	0.81083135892	0.80905	0.5130897125332361	0.51230	1.23477500827	0.81440	0.669710457325	0.62796	T	0.06447	0.32442	T	0.326032	0.84894	D	0.230546	0.84697	D	0.922131173265663	0.58213	D	0.910509	0.68253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.55173	B	.;.	.;.	4.232399	0.64109	24.7	0.998737746250554	0.95076	0.95483	0.64900	D	AEFDI	0.596082	0.59039	D	0.427572636125908	0.62944	4.518894	0.491010174226825	0.67392	5.07799	0.999994292382983	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.03	5.03	0.67015	4.146000	0.57840	7.606000	0.61733	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.750	0.91772	497	0.76227	.;.	.	.	.	.	.	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	1194.33	33	chr2	23895852	.	C	A	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-2.112;SOR=0.671	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1208,0,1503	18	0	1	0
chr2	26464893	26464893	G	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon21:c.C2866A:p.P956T,OTOF:NM_004802:exon22:c.C2635A:p.P879T,OTOF:NM_194323:exon22:c.C2635A:p.P879T,OTOF:NM_001287489:exon39:c.C4936A:p.P1646T,OTOF:NM_194248:exon39:c.C4936A:p.P1646T	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1376	132	12	2	158	0.0536451	.	.	.	3078394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	0.0318956791272	.	.	0.0001	0	0.0003	0	0	6.082e-05	0	0.0006	0.0001035	16	154602	rs17005371	9.387e-05	9.508e-05	6.312e-05	0.0001	0.0010	8.097e-05	7.585e-05	0.0009	0.0008	0	4.569e-05	0	0	0	0.0005	3.347e-05	0.0001	0.0010	5.258e-05	5.249e-05	2.572e-05	8.066e-05	0.0012	2.558e-05	1.831e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.942e-05	0	0.0012	0.132	0.26965	T	0.193	0.34716	T	0.004	0.21002	B	0.012	0.25116	B	0.000000	0.84330	D	0.000000	1.54143e-06	0.58761	P	1.935	0.51832	L	0.45	0.56446	T	-1.6	0.45587	N	0.427	0.49146	-0.9401	0.42600	T	0.124	0.42862	T	9	0.21998471	0.38682	T	0.031896	0.53866	D	0.085	0.24743	0.304	0.27325	0.812953928322	0.81120	0.5587085226425965	0.55797	0.185846097654	0.20895	0.61885291338	0.55566	T	0.184434	0.53709	T	-0.305713	0.08131	T	-0.287325	0.46049	T	0.0743180207036648	0.09245	T	0.930507	0.74278	D	0.17838651	0.38854	0.18434414	0.41481	0.20353404	0.42434	0.18744835	0.41977	-8.532	0.64641	D	0.18295323847856027	0.23662	0.086	0.11461	B	.;.;.;.;.;.	.;.;.;.;.;.	3.728312	0.53317	23.3	0.97535584947788367	0.34485	0.97149	0.72977	D	AEFBI	0.862291	0.78055	D	-0.148847199597606	0.35283	2.024684	0.0186403754598639	0.40579	2.424115	0.999913889226275	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.91	4.91	0.63897	6.623000	0.74104	11.734000	0.95055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	17.712	0.88233	417	0.81662	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1441.33	37	chr2	26464893	.	G	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.046;DP=773;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.96;SOR=0.781	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1455,0,1260	18	0	1	0
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014675	0.010989	0.011142	0.029762	0.000000	0.046296	0.009677	0.007812	0.02632	992.33	42	chr2	27212400	.	C	T	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.129;DP=779;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.327;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1006,0,1010	18	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	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	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.02632	1696.33	34	chr2	27470935	.	G	C	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.507;SOR=0.73	GT:AD:DP:GQ:PL	0/1:50,68:118:99:1710,0,1181	18	0	1	0
chr2	38748123	38748123	T	G	exonic	SRSF7	.	nonsynonymous SNV	SRSF7:NM_001031684:exon5:c.A496C:p.I166L,SRSF7:NM_001195446:exon5:c.A496C:p.I166L,SRSF7:NM_001363802:exon5:c.A496C:p.I166L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00529678837023	.	0.000399361	0.0005	9.641e-05	0.0003	0.0001	0.0002	0.0002	0	0.0021	0.000414	64	154602	rs539664765	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	0.0003	0.0009	0	0.0002	3.744e-05	0.0026	0.0002	0.0004	0.0029	0.0006	0.0006	0.0004	0.0008	0.0034	0.0005	0.0005	0.0027	0.0024	0.0001	0	0.0034	0	0	0	0	0.0003	0.0009	0.0027	0.269	0.16091	T	0.753	0.15206	T	0.0	0.02946	B	0.0	0.01387	B	0.375819	0.13460	N	0.659472	0.997392	0.22676	N	0.69	0.16971	N	2.52	0.14160	T	0.06	0.06253	N	0.222	0.26111	-1.0254	0.21952	T	0.047	0.19998	T	10	0.0055072904	0.00122	T	0.005297	0.13556	T	0.092	0.26621	0.332	0.31843	0.165150595986	0.16160	0.33724423367539574	0.33637	0.472962302528	0.46531	0.46339225769	0.33776	T	0.021058	0.16467	T	-0.572082	0.00215	T	-0.598524	0.12935	T	0.0124918923685489	0.00206	T	0.686731	0.29555	T	0.10462176	0.24733	0.07331182	0.15918	0.10462176	0.24732	0.07331182	0.15917	-3.551	0.18422	T	.	.	0.078	0.14155	B	.;.;.	.;.;.	2.602611	0.33784	19.44	0.9405799049145338	0.24191	0.43476	0.27106	N	AEFDBCI	0.180444	0.30775	N	-0.425564088730779	0.24577	1.327958	-0.357556821388924	0.26275	1.450307	0.999999945444375	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.96	4.07	0.46726	0.657000	0.24647	4.050000	0.41500	-0.201000	0.08892	0.007000	0.17678	0.879000	0.27682	0.995000	0.73285	0.0:0.7701:0.1474:0.0825	9.118	0.35930	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1343.33	45	chr2	38748123	.	T	G	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.414;SOR=0.729	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1357,0,1395	18	0	1	0
chr2	43224865	43224873	GGAGGCCGC	-	exonic	ZFP36L2	.	nonframeshift deletion	ZFP36L2:NM_006887:exon2:c.931_939del:p.A311_S313del	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.236e-05	0	0	0	0	0.0002	0	0	3.84e-05	1	26028	rs779543125	2.912e-05	3.147e-05	2.811e-05	3.016e-05	0.0002	2.18e-05	1.915e-05	0.0001	7.092e-05	0	0.0002	0	0	0	0.0002	1.968e-05	3.603e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	672.29	22	chr2	43224864	.	TGGAGGCCGC	T	672.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.021;DP=554;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=-2.008;SOR=0.765	GT:AD:DP:GQ:PL	0/1:10,18:28:99:686,0,366	18	0	1	0
chr2	46480673	46480673	-	GCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA	exonic	TMEM247	.	nonframeshift insertion	TMEM247:NM_001145051:exon2:c.386_387insGCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA:p.V133_V134insAMEQLQREQQHEV	.	416	1056	38	3	9	53	0.0204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0016	0.0026	0.0019	0.0027	0.0075	0.0044	0.0014	0.0004995	13	26028	rs775332040	0.0063	0.0061	0.0064	0.0062	0.0072	0.0062	0.0062	0.0071	0.0070	0.0014	0.0061	0.0041	2.841e-05	0.0039	0.0035	0.0072	0.0066	0.0012	0.0069	0.0069	0.0077	0.0061	0.0104	0.0065	0.0064	0.0098	0.0095	0.0020	0.0465	0.0099	0.0026	0	0.0027	0.0034	0.0104	0.0081	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3864.47	33	chr2	46480673	.	G	GGCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA	3864.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.823;DP=1175;ExcessHet=0.3672;FS=1.693;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=18.32;ReadPosRankSum=-1.039;SOR=0.592	GT:AD:DP:GQ:PL	0/1:32,54:86:99:1882,0,1076	18	0	1	0
chr2	61083247	61083247	C	T	exonic	KIAA1841	.	nonsynonymous SNV	KIAA1841:NM_001330432:exon7:c.C385T:p.R129C,KIAA1841:NM_001129993:exon8:c.C823T:p.R275C,KIAA1841:NM_001330433:exon8:c.C823T:p.R275C,KIAA1841:NM_001330434:exon8:c.C823T:p.R275C,KIAA1841:NM_001330435:exon8:c.C823T:p.R275C,KIAA1841:NM_001330436:exon8:c.C823T:p.R275C,KIAA1841:NM_032506:exon8:c.C823T:p.R275C	.	439	1069	12	2	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0435212788134	0.0008	0.00159744	0.0011	9.808e-05	0.0004	0.0001	0	0.0003	0.0022	0.0059	0.0008861	137	154602	rs140620846	0.0008	0.0008	0.0006	0.0010	0.0067	0.0008	0.0007	0.0062	0.0060	0.0003	0.0002	0	0.0008	1.872e-05	0.0031	0.0004	0.0007	0.0067	0.0008	0.0008	0.0007	0.0008	0.0085	0.0007	0.0006	0.0064	0.0057	0.0003	0	0.0005	0	0.0004	0	0	0.0008	0.0009	0.0085	0.0	0.91255	D	0.001	0.83351	D	0.403	0.90584	B	0.08	0.67658	B	0.000006	0.62929	D	0.109289	0.99999	0.58761	D	2.005	0.54552	M	.	.	.	-7.0	0.93697	D	0.517	0.55453	-0.5897	0.65233	T	0.310	0.68085	T	9	0.016627222	0.00351	T	0.043521	0.61028	D	0.427	0.73445	.	.	0.620138186352	0.61706	0.6383828255590289	0.63772	0.118335029965	0.13327	0.531667590141	0.43270	T	0.35427	0.72144	T	-0.313216	0.07467	T	-0.219661	0.52770	T	0.129381190369104	0.15324	T	0.873813	0.58316	D	0.7603953	0.81476	0.47367552	0.69493	0.7603953	0.81478	0.47367552	0.69493	-9.549	0.71163	D	.	.	0.112	0.25364	B	.;.;.;.;.	.;.;.;.;.	3.976757	0.58430	24.0	0.97388331696376018	0.33711	0.90578	0.51870	D	AEFBI	0.246862	0.36755	N	0.00858502247680668	0.42246	2.54175	-0.0406254711371744	0.37899	2.225322	1.74965175825222E-5	0.02871	0.744818	0.98587	0	0.588066	0.40923	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.48	-0.618	0.10995	3.943000	0.56332	3.279000	0.37216	-0.173000	0.11020	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.1151:0.5612:0.0:0.3237	6.016	0.18832	383	0.83590	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2999.83	33	chr2	61083247	.	C	T	2999.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.33;DP=830;ExcessHet=0.119;FS=1.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.427;SOR=0.816	GT:AD:DP:GQ:PL	0/1:60,71:131:99:1686,0,1344	17	0	2	0
chr2	71660585	71660585	T	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon43:c.T4778C:p.I1593T,DYSF:NM_001130986:exon43:c.T4781C:p.I1594T,DYSF:NM_001130455:exon44:c.T4823C:p.I1608T,DYSF:NM_001130977:exon44:c.T4841C:p.I1614T,DYSF:NM_001130980:exon44:c.T4871C:p.I1624T,DYSF:NM_001130984:exon44:c.T4844C:p.I1615T,DYSF:NM_001130985:exon44:c.T4874C:p.I1625T,DYSF:NM_003494:exon44:c.T4820C:p.I1607T,DYSF:NM_001130978:exon45:c.T4883C:p.I1628T,DYSF:NM_001130979:exon45:c.T4913C:p.I1638T,DYSF:NM_001130981:exon45:c.T4934C:p.I1645T,DYSF:NM_001130982:exon45:c.T4916C:p.I1639T,DYSF:NM_001130983:exon45:c.T4886C:p.I1629T,DYSF:NM_001130987:exon45:c.T4937C:p.I1646T	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	2	1484	36	0	0	36	0.011984	.	.	YES	194665	Qualitative_or_quantitative_defects_of_dysferlin|not_specified|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.363	.	0.0012	0.00319489	0.0033	9.61e-05	0.0010	0.0002	0.0005	0.0026	0.0044	0.0127	0.0029172	451	154602	rs146384562	0.0021	0.0021	0.0017	0.0024	0.0136	0.0020	0.0020	0.0129	0.0126	0.0002	0.0010	0.0017	0	0.0014	0.0064	0.0013	0.0025	0.0136	0.0017	0.0017	0.0015	0.0019	0.0151	0.0015	0.0015	0.0124	0.0113	9.622e-05	0	0.0037	0.0023	0	0.0006	0.0034	0.0016	0.0009	0.0151	0.001	0.78490	D	0.038	0.51421	D	0.0	0.17989	B	0.003	0.30579	B	0.004116	0.34102	N	0.313928	0.69987	0.33410	D	1.27	0.32069	L	-0.58	0.71425	T	-3.38	0.66780	D	0.624	0.64223	-0.4479	0.70469	T	0.221	0.58447	T	10	0.012410134	0.00267	T	.	.	.	0.363	0.68319	.	.	0.760002136387	0.75782	0.6077555353843563	0.60707	0.208774122506	0.23348	0.392420083284	0.24010	T	0.752	0.93211	D	-0.293494	0.09288	T	-0.183329	0.56213	T	0.0465958301588332	0.04891	T	0.964204	0.86724	D	0.32428068	0.54999	0.49371374	0.70717	0.46025723	0.64687	0.4232503	0.66202	-10.4	0.76271	D	0.3412174310421623	0.43894	0.139	0.33755	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.520026	0.70858	25.6	0.9956121916625863	0.71769	0.96820	0.71115	D	AEFBI	0.737569	0.68272	D	0.0548768012775958	0.44368	2.712078	0.242070305115118	0.52198	3.396399	0.999999998182358	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.135000	0.64617	.	.	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.122	0.64726	418	0.81602	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 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	0.007064	0.000000	0.004076	0.020588	0.000000	0.008621	0.012346	0.000000	0.02632	1066.33	34	chr2	71660585	.	T	C	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.915;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=0.727;SOR=0.669	GT:AD:DP:GQ:PL	0/1:81,50:131:99:1080,0,1943	18	0	1	0
chr2	84552940	84552942	AAG	-	exonic	DNAH6	.	nonframeshift deletion	DNAH6:NM_001370:exon10:c.1508_1510del:p.E505del	.	427	1092	3	0	0	3	0.00137174	.	.	.	697678	not_provided|DNAH6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00319489	0.0016	0.0059	0.0029	0	0	0.0013	0.0078	0.0001	0.0004226	11	26028	rs143228855	0.0011	0.0012	0.0012	0.0011	0.0083	0.0011	0.0011	0.0065	0.0058	0.0061	0.0030	0.0038	2.533e-05	0	0.0083	0.0009	0.0027	0.0002	0.0025	0.0024	0.0024	0.0025	0.0053	0.0022	0.0022	0.0048	0.0045	0.0053	0	0.0033	0.0026	0	0	0.0136	0.0011	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017641	0.020408	0.024457	0.026316	0.050000	0.017241	0.003049	0.003788	0.02632	2361.29	37	chr2	84552939	.	CAAG	C	2361.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=766;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.172;SOR=0.833	GT:AD:DP:GQ:PL	0/1:86,63:149:99:2375,0,3405	18	0	1	0
chr2	84704121	84704121	A	G	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon51:c.A8284G:p.T2762A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0321064411709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.18434	T	.	.	.	0.173	0.28803	B	0.124	0.32546	B	.	.	.	.	0.999584	0.47691	D	0.665	0.16292	N	-0.78	0.73631	T	-3.91	0.73042	D	0.485	0.51940	-0.8163	0.54165	T	0.209	0.56826	T	9	0.22451293	0.39256	T	0.032106	0.54021	D	0.354	0.67510	0.325	0.30711	0.672464597322	0.66969	0.7696921730370141	0.76918	0.108456008198	0.12232	0.66061091423	0.61498	T	0.274802	0.64731	T	0.0114537	0.53223	T	-0.221324	0.52610	T	0.537930428981781	0.34027	D	0.860814	0.55431	D	0.27403966	0.50471	0.3308871	0.58954	0.27403966	0.50471	0.3308871	0.58953	-4.338	0.28706	T	.	.	0.224	0.45581	B	.;.	.;.	3.158290	0.42778	21.6	0.99700725456612438	0.80591	0.94121	0.60176	D	AEFBI	0.690072	0.65052	D	-0.128521416840119	0.36153	2.085979	0.0711596127703251	0.43107	2.619292	0.999916520768063	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.024000	0.63865	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.140	0.64844	599	0.68140	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1196.33	35	chr2	84704121	.	A	G	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.276;DP=743;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.625;SOR=0.886	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1210,0,1634	18	0	1	0
chr2	86987000	86987000	A	T	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon20:c.A4077T:p.K1359N,RGPD2:NM_001078170:exon20:c.A4101T:p.K1367N,RGPD1:NM_001382344:exon20:c.A4101T:p.K1367N	.	140	1342	38	2	0	42	0.0154072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	.	0.0046	0.00319489	0.0257	0.0063	0.0236	0	0.0714	0.0294	0.0185	0.0464	0.0032535	503	154602	rs200614914	0.0085	0.0084	0.0083	0.0086	0.0129	0.0083	0.0083	0.0110	0.0108	0.0013	0.0041	0.0080	0	0.0050	0.0129	0.0091	0.0081	0.0116	0.0059	0.0058	0.0058	0.0059	0.0102	0.0055	0.0054	0.0079	0.0071	0.0019	0	0.0067	0.0078	0	0.0054	0.0068	0.0077	0.0035	0.0102	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.740104	0.33813	D	3.48	0.92553	M	0.56	0.54540	T	-3.94	0.73378	D	0.63	0.65930	-0.3505	0.73539	T	0.272	0.64318	T	9	0.013425499	0.00285	T	.	.	.	0.275	0.59130	0.695	0.83219	0.202086224978	0.19791	0.028640529261616688	0.02814	.	.	0.781320095062	0.79126	T	0.403098	0.75994	T	-0.306874	0.08026	T	-0.202549	0.54404	T	0.053325045628606	0.06074	T	0.985001	0.94819	D	0.62276155	0.73911	0.563675	0.74749	0.62276155	0.73912	0.563675	0.74750	-11.857	0.84147	D	.	.	0.859	0.80277	P	.;.;.;.	.;.;.;.	2.950365	0.39262	20.9	0.99837476353400023	0.91800	0.72485	0.35477	D	AEFI	0.369293	0.45608	N	0.314513138487155	0.56894	3.854849	0.115960413105428	0.45364	2.800929	2.12320490887038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.35	1.19	0.20120	1.054000	0.30064	1.076000	0.23848	0.359000	0.20063	1.000000	0.71638	0.992000	0.31684	0.915000	0.45038	0.8335:0.0:0.1665:0.0	5.292	0.15045	544	0.72685	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran 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	0.005442	0.000000	0.007205	0.006329	0.000000	0.000000	0.004386	0.000000	0.02632	3642.33	33	chr2	86987000	.	A	T	3642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.411;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.85;MQRankSum=-1.204;QD=10.81;ReadPosRankSum=-1.239;SOR=0.713	GT:AD:DP:GQ:PL	0/1:163,174:337:99:3656,0,3305	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|1:209,33:242:99:0|1:94876587_C_A:757,0,8600:94876587	7	0	12	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	1153.43	347	chr2	94876599	.	C	T	1153.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.864;DP=4199;ExcessHet=0.7564;FS=4.755;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=57.82;MQRankSum=-14.46;QD=1;ReadPosRankSum=-2.48;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:252,32:284:99:.:.:106,0,10331:.	15	0	4	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,78:332:99:0|1:94876587_C_A:2511,0,10431:94876587	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|1:276,94:370:99:0|1:94876587_C_A:3036,0,11203:94876587	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|1:340,112:452:99:0|1:94876671_A_G:3659,0,13819:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,112:454:99:0|1:94876671_A_G:3653,0,13891:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:333,77:410:99:.:.:1945,0,8168:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,61:412:99:0|1:94876737_C_A:1495,0,14404:94876737	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,61:407:99:0|1:94876737_C_A:1510,0,14248:94876737	12	0	7	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:197,56:253:99:1110,0,5243	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	0/1:264,35:299:99:114,0,7648	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	0/1:179,177:356:99:3934,0,4513	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	0/1:169,111:280:99:3086,0,4482	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	0/1:234,39:273:99:480,0,9056	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	0/1:187,79:266:99:2055,0,5050	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|1:132,53:185:99:0|1:95859969_A_AT:1828,0,5329:95859969	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|1:132,53:185:99:0|1:95859969_A_AT:1828,0,5329:95859969	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|1:132,53:185:99:0|1:95859969_A_AT:1828,0,5315:95859969	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	0/1:129,54:183:99:1880,0,3256	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|1:124,50:174:99:0|1:95860002_T_A:1726,0,5024:95860002	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|1:125,47:172:99:0|1:95860002_T_A:1597,0,5065:95860002	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|1:119,43:162:99:0|1:95860020_G_A:1447,0,4862:95860020	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|1:119,42:161:99:0|1:95860020_G_A:1405,0,4865:95860020	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	0/1:99,29:128:99:921,0,2667	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,40:176:99:0|1:95927222_G_GAT:1270,0,5590:95927222	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|1:141,51:192:99:0|1:95927222_G_GAT:1717,0,5767:95927222	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|1:145,66:211:99:0|1:95927222_G_GAT:2335,0,5890:95927222	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|1:173,114:287:99:0|1:95927222_G_GAT:4266,0,6921:95927222	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|1:190,160:350:99:0|1:95927222_G_GAT:5944,0,7471:95927222	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|1:200,164:364:99:0|1:95927222_G_GAT:6021,0,7776:95927222	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|1:167,69:236:99:0|1:95929092_T_C:2298,0,6733:95929092	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|1:193,76:269:99:0|1:95929092_T_C:2601,0,7871:95929092	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|1:217,97:314:99:0|1:95929092_T_C:3420,0,8820:95929092	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|1:223,108:331:99:0|1:95929092_T_C:3864,0,9039:95929092	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|1:227,114:341:99:0|1:95929092_T_C:4077,0,9150:95929092	0	0	19	0
chr2	96284585	96284585	C	T	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I	Retinitis pigmentosa 33, Autosomal dominant	0	1411	103	8	0	119	0.0404624	0.9982	0.89	.	101450	not_specified|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0038	0.00419329	0.0053	0.0003	0.0040	0	0.0017	0.0065	0.0055	0.0092	0.0051746	800	154602	rs143898031	0.0045	0.0046	0.0043	0.0048	0.0495	0.0045	0.0044	0.0448	0.0430	0.0010	0.0045	0.0198	0	0.0007	0.0495	0.0039	0.0068	0.0101	0.0036	0.0036	0.0034	0.0039	0.0083	0.0034	0.0033	0.0063	0.0058	0.0007	0.0044	0.0073	0.0205	0.0002	0.0007	0.0476	0.0037	0.0104	0.0083	0.141	0.25560	T	0.159	0.31527	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	1.34	0.34841	T	-0.28	0.11547	N	0.291	0.32921	-1.1047	0.03567	T	0.026	0.11264	T	10	0.008113712	0.00184	T	0.008952	0.23583	T	0.062	0.17934	.	.	0.174091166621	0.17034	0.5685495379776625	0.56782	0.810597044278	0.66712	0.613193273544	0.54767	T	0.094437	0.39416	T	-0.457552	0.01018	T	-0.422057	0.30840	T	0.00818022676011606	0.00098	T	0.905909	0.66829	D	0.13796365	0.31925	0.070453815	0.14972	0.13796365	0.31925	0.070453815	0.14972	-6.034	0.46563	T	0.26735886023795424	0.36023	0.077	0.06295	B	.	.	3.656982	0.51934	23.2	0.99634088163219547	0.76203	0.96016	0.67153	D	AEFDBCI	0.560424	0.56884	D	-0.0620636731460172	0.39066	2.297824	0.168667584025889	0.48139	3.033977	0.999997737677715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.801000	0.68775	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.92:0.0:0.08	12.526	0.55431	291	0.88420	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038771	0.005051	0.039402	0.084795	0.000000	0.043103	0.030488	0.015152	0.02632	836.33	37	chr2	96284585	.	C	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=687;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.196;SOR=1.038	GT:AD:DP:GQ:PL	0/1:23,32:55:99:850,0,554	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|1:142,27:169:99:0|1:97185336_GC_G:706,0,5843:97185336	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|1:145,27:172:99:0|1:97185336_GC_G:697,0,5987:97185336	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|1:145,27:172:99:0|1:97185336_GC_G:697,0,6007:97185336	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|1:150,27:177:99:0|1:97185336_GC_G:682,0,6170:97185336	2	0	17	0
chr2	97191130	97191130	T	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon36:c.T2296G:p.S766A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0123279931647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.117	0.36365	T	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	-1.12	0.77593	T	-0.72	0.20358	N	0.077	0.07125	-0.7453	0.58180	T	0.334	0.70117	T	9	0.10382989	0.19110	T	0.012328	0.30806	T	0.226	0.52472	0.111	0.02112	0.379193981924	0.37526	.	.	.	.	0.723955571651	0.70624	T	0.00522	0.04667	T	-0.188558	0.22471	T	-0.508627	0.21457	T	0.329386591911316	0.26200	T	0.720328	0.34232	T	0.07056233	0.15554	0.07619968	0.16853	0.07056233	0.15553	0.07619968	0.16852	-9.803	0.72724	D	.	.	0.142	0.31330	B	.;.	.;.	0.528896	0.08976	5.758	0.94468059427165152	0.24913	0.00799	0.03256	N	AEFBI	0.024586	0.01546	N	-0.724435315588378	0.15337	0.7720038	-0.98420814216891	0.10140	0.5088098	9.02244248594929E-6	0.01202	0.428477	0.06694	0	0.446627	0.06534	0	0.547309	0.15389	0	0.322989	0.05693	1	.	.	0.926	-0.386	0.11846	-1.484000	0.02422	-2.207000	0.04057	-0.583000	0.04693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3106:0.0:0.6894	2.979	0.05584	210	0.91826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	919.33	34	chr2	97191130	.	T	G	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=652;ExcessHet=0;FS=4.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-1.901;SOR=1.432	GT:AD:DP:GQ:PL	0/1:20,31:51:99:933,0,533	18	0	1	0
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-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	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	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	.	.	.	.	.	.	.	.	0.07895	298.09	36	chr2	97243955	.	G	A	298.09	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1574;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.092;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.61;ReadPosRankSum=-1.56;SOR=8.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,11:148:40:0|1:97243955_G_A:40,0,5679:97243955	16	0	3	0
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-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	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	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	.	.	.	.	.	.	.	.	0.07895	324.11	36	chr2	97243956	.	T	C	324.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.47;DP=1573;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.0926;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.66;ReadPosRankSum=-1.32;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,12:150:69:0|1:97243955_G_A:69,0,5710:97243955	16	0	3	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|1:134,18:152:99:0|1:97243955_G_A:265,0,5503:97243955	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|1:127,24:151:99:0|1:97243981_C_T:625,0,5260:97243981	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|1:127,24:151:99:0|1:97243981_C_T:625,0,5260:97243981	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|1:149,118:267:99:0|1:97513220_G_A:4506,0,5901:97513220	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|1:159,122:281:99:0|1:97513220_G_A:4644,0,6309:97513220	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|1:177,142:319:99:0|1:97513244_G_T:5430,0,6924:97513244	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|1:184,145:329:99:0|1:97513244_G_T:5525,0,7249:97513244	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|1:184,145:329:99:0|1:97513244_G_T:5525,0,7249:97513244	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|1:191,153:344:99:0|1:97513268_C_T:5834,0,7544:97513268	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|1:192,154:346:99:0|1:97513268_C_T:5873,0,7583:97513268	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|1:194,154:348:99:0|1:97513268_C_T:5867,0,7626:97513268	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|1:198,158:356:99:0|1:97513268_C_T:5940,0,7713:97513268	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	0/1:135,58:193:99:1151,0,3248	0	0	19	0
chr2	97560855	97560855	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon7:c.C769T:p.P257S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.004e-05	0.0003	0.0001	0	0	0	0	0	8.41e-05	13	154602	rs780443525	8.291e-05	0.0001	9.643e-05	6.924e-05	0.0026	7.054e-05	6.594e-05	0.0021	0.0020	0.0026	0.0002	0	0	0	0	9.118e-06	0.0002	1.176e-05	0.0010	0.0012	0.0011	0.0009	0.0034	0.0009	0.0008	0.0029	0.0027	0.0034	0	0.0005	0	0	0	0	0	0.0005	0.0002	.	.	.	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.975	0.01213	N	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	0.035990536	0.01875	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.16001757514502346	0.15922	.	.	0.693395614624	0.66194	T	0.005734	0.05178	T	-0.185808	0.22875	T	-0.504677	0.21864	T	.	.	.	0.549445	0.18903	T	0.040250804	0.05709	0.111498825	0.26896	0.040250804	0.05709	0.111498825	0.26895	-1.682	0.02182	T	.	.	0.085	0.10159	B	.;.	.;.	-1.143853	0.00590	0.015	0.47617598895545221	0.03907	0.00164	0.00976	N	AEFBI	.	.	.	.	.	.	.	.	.	8.6213073504853E-5	0.04703	0.24053	0.04163	0	0.097471	0.02872	0	0.083675	0.02720	0	0.276818	0.05458	0	0.0868661	0.19730	0.379	-0.758	0.10492	-0.094000	0.11060	0.023000	0.13619	-1.058000	0.01623	0.181000	0.24076	0.000000	0.08366	0.000000	0.00833	.	.	.	362	0.84826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	42	chr2	97560855	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.526;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.71;MQRankSum=0.972;QD=18.35;ReadPosRankSum=2.08;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,32:52:99:1|0:97560842_C_G:968,0,718:97560842	18	0	1	0
chr2	99065057	99065057	T	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349013:exon12:c.A959G:p.N320S,TSGA10:NM_001349014:exon12:c.A959G:p.N320S,TSGA10:NM_001349012:exon14:c.A1286G:p.N429S,TSGA10:NM_182911:exon15:c.A1286G:p.N429S,TSGA10:NM_025244:exon16:c.A1286G:p.N429S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0127537371483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12428	T	0.831	0.03706	T	0.001	0.07471	B	0.003	0.08700	B	0.021810	0.26758	N	0.349077	0.991168	0.24073	N	-0.145	0.04423	N	2.61	0.78427	T	0.37	0.04533	N	0.061	0.03613	-0.9959	0.31055	T	0.144	0.46696	T	10	0.046427935	0.03832	T	0.012754	0.31594	T	0.030	0.07022	.	.	0.117191471859	0.11215	0.04130864157475855	0.04075	0.0954305345072	0.10779	0.495855122805	0.38250	T	0.014869	0.12575	T	-0.218052	0.18260	T	-0.550993	0.17232	T	0.33415162563324	0.26391	T	0.786121	0.42437	T	0.02980488	0.02535	0.042699125	0.05145	0.02980488	0.02534	0.042699125	0.05144	-3.428	0.15436	T	.	.	0.076	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.605649	0.20521	14.79	0.4202721769900406	0.03070	0.62874	0.31915	D	AEBI	0.191776	0.31896	N	-0.732596989018564	0.15111	0.7586498	-0.48755340650557	0.22495	1.222124	0.0052865637085332	0.10888	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.3	2.9	0.32809	1.597000	0.36340	2.835000	0.35045	-0.904000	0.02305	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0865:0.1613:0.7523	6.850	0.23194	335	0.86220	.;.;.;.;.	.	.	.	.	.	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	1328.33	33	chr2	99065057	.	T	C	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=745;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.475;SOR=0.496	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1342,0,1217	18	0	1	0
chr2	113443854	113443854	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon3:c.G329A:p.C110Y,CBWD2:NM_001330337:exon3:c.G329A:p.C110Y,CBWD2:NM_172003:exon3:c.G329A:p.C110Y,CBWD2:NM_001330339:exon4:c.G221A:p.C74Y	.	459	1044	19	0	0	19	0.00901756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.103116682965	.	.	0.0008	0	0	0	.	0.0012	0	0	2.59e-05	4	154602	rs200145218	0.0034	0.0046	0.0034	0.0034	0.0179	0.0033	0.0033	0.0149	0.0138	0.0007	0.0032	0.0034	0	0.0076	0.0179	0.0035	0.0032	0.0021	0.0026	0.0038	0.0023	0.0030	0.0043	0.0024	0.0023	0.0034	0.0031	0.0004	0.0236	0.0043	0.0024	0	0.0071	0.0141	0.0029	0.0035	0.0009	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.26	0.98092	H	0.45	0.56446	T	-10.04	0.98852	D	0.902	0.90251	0.289	0.87380	D	0.508	0.81503	D	10	0.24361351	0.41578	T	0.103117	0.77697	D	0.614	0.84932	.	.	0.599654944907	0.59646	0.5078442566509896	0.50706	.	.	0.858874857426	0.90944	D	0.427626	0.77704	T	0.308	0.83601	D	0.204788	0.83387	D	0.890385329723358	0.54119	D	0.999058	0.99576	D	0.9396918	0.95216	0.8888412	0.94186	0.9396918	0.95217	0.8888412	0.94186	-9.262	0.69368	D	.	.	0.984	0.95995	P	.;.;.	.;.;.	5.438484	0.90909	32	0.99599616731712604	0.74101	0.95228	0.63913	D	AEFI	0.775335	0.70878	D	0.879044043988155	0.90695	10.52251	0.681370157874719	0.80966	7.417813	0.721406329907596	0.22936	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.85	2.85	0.32333	8.628000	0.90746	8.539000	0.77485	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0:0.0:1.0:0.0	11.531	0.49859	763	0.50172	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-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	543.33	41	chr2	113443854	.	G	A	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.892;DP=802;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.82;MQRankSum=-1.15;QD=5.38;ReadPosRankSum=-1.1;SOR=0.455	GT:AD:DP:GQ:PL	0/1:71,30:101:99:557,0,1823	18	0	1	0
chr2	113742772	113742772	C	T	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon7:c.G652A:p.E218K,SLC35F5:NM_001330315:exon7:c.G670A:p.E224K,SLC35F5:NM_001330316:exon7:c.G670A:p.E224K,SLC35F5:NM_001330317:exon7:c.G652A:p.E218K,SLC35F5:NM_025181:exon7:c.G670A:p.E224K	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00526062414607	0.0045	0.00159744	0.0037	0.0013	0.0015	0	0.0021	0.0058	0.0033	0.0008	0.0038486	595	154602	rs150656361	0.0050	0.0050	0.0050	0.0051	0.0060	0.0049	0.0049	0.0059	0.0059	0.0008	0.0016	0.0005	0	0.0025	0.0047	0.0060	0.0042	0.0009	0.0036	0.0036	0.0038	0.0034	0.0067	0.0034	0.0033	0.0062	0.0060	0.0011	0	0.0014	0.0006	0	0.0016	0	0.0067	0.0028	0.0006	0.637	0.17940	T	0.383	0.19246	T	0.021	0.20480	B	0.038	0.23361	B	0.006726	0.31837	N	0.357944	0.994698	0.42380	D	-0.345	0.03330	N	0.92	0.44461	T	-0.47	0.15178	N	0.583	0.60410	-1.0398	0.17374	T	0.040	0.17234	T	10	0.0055446923	0.00122	T	0.005261	0.13433	T	0.066	0.19193	.	.	0.42130639912	0.41750	0.5381613818164451	0.53741	0.174014622126	0.19591	0.506434679031	0.39724	T	0.010092	0.09137	T	-0.516214	0.00463	T	-0.507743	0.21548	T	0.0153049123563055	0.00339	T	0.948805	0.82551	D	0.1245969	0.29230	0.117520146	0.28370	0.1245969	0.29230	0.117520146	0.28370	-4.883	0.35543	T	.	.	0.179	0.58611	B	.;.;.	.;.;.	3.166865	0.42928	21.6	0.98164123056445352	0.38797	0.99545	0.97286	D	AEFGBI	0.825321	0.74504	D	-0.0325763100122963	0.40383	2.397311	0.176349605014107	0.48553	3.06979	0.999972730028718	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	7.019000	0.76152	3.960000	0.40741	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8492:0.1508:0.0	14.052	0.64267	741	0.52966	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1449.33	33	chr2	113742772	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.181;SOR=0.64	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1463,0,989	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	0/1:97,89:186:99:2179,0,2669	17	0	2	0
chr2	130074621	130074621	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.G2851A:p.G951S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00108707236391	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs781580394	3.573e-05	0.0002	3.692e-05	3.453e-05	0.0006	2.775e-05	2.512e-05	0.0004	0.0003	0.0006	2.252e-05	0	0.0003	0	0	1.621e-05	3.33e-05	2.327e-05	0.0004	0.0012	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0002	0	0.0002	0.0001	0	0	0	0	0.048	0.40068	D	0.025	0.56192	D	0.004	0.12183	B	0.052	0.25551	B	.	.	.	.	0.934286	0.26974	N	3.01	0.86067	M	2.93	0.09822	T	-4.63	0.79229	D	0.358	0.39962	-1.1217	0.02227	T	0.043	0.18326	T	8	0.78999317	0.78576	D	0.001087	0.01287	T	0.152	0.39956	0.941	0.99207	0.0401082797425	0.02173	0.03490225994518632	0.03437	.	.	0.637140393257	0.58158	T	0.581961	0.86325	D	-0.183537	0.23212	T	-0.501415	0.22201	T	0.384240175975191	0.28345	T	0.774523	0.40643	T	0.24555722	0.47515	0.17024769	0.39120	0.24555722	0.47515	0.17024769	0.39119	-6.304	0.48754	T	.	.	0.272	0.50627	B	.	.	2.109745	0.26851	17.26	0.98838047364609949	0.47068	0.50287	0.28628	D	AEFI	0.284588	0.39741	N	-0.539547023982616	0.20812	1.099973	-0.693200525092323	0.17130	0.9094818	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.000000	0.08366	0.089000	0.17737	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	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	.	.	.	.	.	.	.	.	0.02632	75.33	87	chr2	130074621	.	C	T	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=1125;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.76;MQRankSum=-0.313;QD=0.84;ReadPosRankSum=0.065;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,8:90:89:0|1:130074621_C_T:89,0,3399:130074621	18	0	1	0
chr2	130182662	130182662	C	A	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_001330282:exon2:c.C206A:p.P69H,MZT2B:NM_025029:exon2:c.C206A:p.P69H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.542029862521	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404133676	1.214e-05	1.231e-05	1.552e-05	8.673e-06	3.769e-05	7.39e-06	6.05e-06	1.001e-05	5.88e-06	0	0	0	0	0	0	1.295e-05	0	3.769e-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	0.999917	0.81001	D	.	.	.	0.07	0.76168	T	-8.43	0.97580	D	0.773	0.77039	-0.4012	0.71989	T	0.305	0.67565	T	10	0.8693902	0.86198	D	0.54203	0.95740	D	0.647	0.86636	0.691	0.82843	0.35421846163	0.35036	0.7288338305181713	0.72827	3.42736044518	0.99715	0.894284784794	0.95783	D	0.374062	0.73793	T	0.216254	0.75421	D	0.0728575	0.75100	D	0.995983600616455	0.88445	D	0.90391	0.70013	D	0.89452714	0.90900	0.8461882	0.91249	0.89452714	0.90901	0.8461882	0.91250	-13.851	0.92563	D	.	.	0.985	0.96865	P	.;.;.	.;.;.	5.539626	0.91949	32	0.99678992535638822	0.79108	0.56518	0.30138	D	AEFDGBCI	0.460478	0.51064	N	0.279703047613921	0.55120	3.676391	0.277539814200694	0.54230	3.588699	0.999999973899165	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	3.76	0.42368	3.054000	0.49600	.	.	0.448000	0.21234	0.931000	0.32310	1.000000	0.68203	0.975000	0.56047	0.183:0.817:0.0:0.0	11.299	0.48530	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1437.33	33	chr2	130182662	.	C	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.771;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=-2.069;QD=13.43;ReadPosRankSum=-0.321;SOR=0.692	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1451,0,1338	18	0	1	0
chr2	130509011	130509011	A	0	exonic	POTEI	.	.	.	.	429	960	87	2	44	135	0.0452511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	996.22	501	chr2	130509011	.	A	*	996.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=3066;ExcessHet=0.7564;FS=4.114;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=56.3;MQRankSum=-8.752;QD=0.6;ReadPosRankSum=-3.796;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:257,124:381:99:.:.:1748,0,9487:.	17	0	2	0
chr2	130509017	130509017	C	0	exonic	POTEI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3726.52	130	chr2	130509017	.	C	*	3726.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.436;DP=2619;ExcessHet=0.3672;FS=2.539;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.91;MQRankSum=-0.355;QD=3.28;ReadPosRankSum=-0.383;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:257,124:381:99:.:.:1748,0,9487:.	17	0	2	0
chr2	130509040	130509151	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	0	exonic	POTEI	.	.	.	.	438	1014	22	0	48	70	0.0107317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2503.48	130	chr2	130509040	.	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	*	2503.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5;DP=2353;ExcessHet=0.3672;FS=2.702;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=53.96;MQRankSum=2.05;QD=2.32;ReadPosRankSum=-4.673;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:257,124:381:99:.:.:1748,0,9487:.	17	0	2	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	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|1:167,36:203:99:0|1:151680729_C_T:153,0,5779:151680729	12	0	6	1
chr2	151725500	151725500	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon6:c.A355G:p.T119A,NEB:NM_001164508:exon6:c.A355G:p.T119A,NEB:NM_001271208:exon6:c.A355G:p.T119A,NEB:NM_004543:exon6:c.A355G:p.T119A	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	628676	Nemaline_myopathy_2|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.263	0.0255515818936	0.0002	0.000798722	0.0003	0.0001	0	0	0	0.0001	0	0.0018	0.0003105	48	154602	rs182207224	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0001	0.0015	0.0014	0	4.473e-05	0	0	0	0.0005	7.826e-05	0.0002	0.0017	0.0001	0.0001	0.0001	0.0002	0.0021	9.739e-05	8.254e-05	0.0011	0.0009	2.406e-05	0	0	0	0	0	0	0.0001	0.0005	0.0021	0.108	0.29420	T	0.0	0.92824	D	0.62	0.39915	P	0.37	0.43538	B	0.000001	0.62929	D	0.056778	0.585571	0.39155	D	2.085	0.57729	M	0.28	0.59037	T	-1.74	0.49352	N	0.688	0.69387	-0.6508	0.62679	T	0.268	0.63908	T	10	0.033915758	0.01582	T	0.025552	0.48513	D	0.263	0.57612	.	.	0.59817006922	0.59497	0.4061082607670968	0.40526	0.171380258948	0.19308	0.534846782684	0.43716	T	0.04676	0.36543	T	-0.297086	0.08938	T	-0.21275	0.53433	T	0.0632435179960832	0.07669	T	0.887611	0.61827	D	0.22659773	0.45344	0.20540711	0.44709	0.22659773	0.45344	0.20540711	0.44708	-7.331	0.56415	T	.	.	0.267	0.50129	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.884650	0.56480	23.7	0.99044079715126054	0.51095	0.98080	0.79428	D	AEFBI	0.885182	0.81548	D	0.489345847538413	0.66466	4.953805	0.571270470742281	0.72887	5.881555	0.999999999986384	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.17	6.17	0.99707	7.488000	0.80254	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.822	0.85699	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	38	chr2	151725500	.	T	C	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.603;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.629;SOR=0.659	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1444,0,1937	18	0	1	0
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	46.88	18	chr2	151812356	.	C	G	46.88	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.325;DP=405;ExcessHet=0.4139;FS=246.399;InbreedingCoeff=-0.0268;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.371;SOR=7.378	GT:AD:DP:GQ:PL	0/1:15,4:22:44:44,0,785	12	0	3	4
chr2	159898895	159898895	C	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon2:c.G259T:p.D87Y,LY75-CD302:NM_001198760:exon2:c.G259T:p.D87Y,LY75:NM_002349:exon2:c.G259T:p.D87Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0290940489646	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs765949228	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.237e-05	1.051e-05	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.068e-05	3.311e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	0.997	0.70673	D	0.906	0.64351	P	0.221919	0.16118	N	0.447212	0.999999	0.08975	N	2.76	0.80626	M	1.47	0.31987	T	-4.28	0.76334	D	0.67	0.72477	-0.9744	0.36257	T	0.161	0.49548	T	10	0.63492596	0.68727	D	0.029094	0.51667	D	0.151	0.39764	0.5	0.59147	0.229924730088	0.22615	0.7228391615059485	0.72227	0.302519786144	0.32581	.	.	.	0.429117	0.77802	T	-0.0893608	0.38182	T	-0.25848	0.48977	T	0.681374463389201	0.39851	D	0.772623	0.41422	T	0.405667	0.61123	0.27457514	0.53387	0.405667	0.61123	0.27457514	0.53386	-5.841	0.44930	T	.	.	0.310	0.56690	B	.;.;.	.;.;.	3.082916	0.41477	21.4	0.99248046155005076	0.56792	0.45569	0.27568	N	AEFDGBHCI	0.195558	0.32258	N	0.12190964058044	0.47487	2.973684	-0.022087813010137	0.38720	2.285254	0.999999999470153	0.74766	0.656854	0.48797	0	0.685571	0.66316	0	0.67347	0.61138	0	0.655142	0.61905	0	.	.	5.92	3.17	0.35510	0.373000	0.20215	0.874000	0.22338	0.599000	0.40250	0.137000	0.23458	0.294000	0.24182	0.984000	0.60418	0.0:0.7298:0.0:0.2702	9.445	0.37859	621	0.65931	.;.;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1514.33	33	chr2	159898895	.	C	A	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.764;SOR=0.721	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1528,0,1122	18	0	1	0
chr2	164743751	164743754	TATC	-	exonic	COBLL1	.	frameshift deletion	COBLL1:NM_001278461:exon2:c.163_166del:p.D55Kfs*25,COBLL1:NM_014900:exon2:c.163_166del:p.D55Kfs*25,COBLL1:NM_001278460:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365670:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365671:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365672:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365673:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365674:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365675:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001278458:exon4:c.322_325del:p.D108Kfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1481.29	33	chr2	164743750	.	TTATC	T	1481.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.09;SOR=0.796	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1495,0,1520	18	0	1	0
chr2	170040979	170040979	C	T	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon32:c.C4654T:p.R1552C	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0134403443086	0.0007	0.000199681	0.0004	0.0005	0	0.0002	0	0.0006	0	0	0.0003622	56	154602	rs139002361	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	0.0010	2.241e-05	0	0.0002	1.878e-05	0.0016	0.0003	0.0004	3.482e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0003	0	0	0	0.0004	9.434e-05	0	0.0005	0.0009	0	0.052	0.41915	T	0.08	0.41913	T	0.001	0.07471	B	0.0	0.01387	B	0.057595	0.22469	N	0.527727	0.549969	0.32124	D	1.61	0.41143	L	0.74	0.50459	T	-2.36	0.57762	N	0.278	0.31478	-0.9698	0.37242	T	0.063	0.26279	T	10	0.03970158	0.02481	T	0.01344	0.32845	T	0.065	0.18881	.	.	0.043077524339	0.03247	0.3162960665546384	0.31542	0.168985823448	0.19054	0.254804909229	0.04291	T	0.197541	0.55425	T	-0.330245	0.06094	T	-0.349117	0.39307	T	0.0322787239209104	0.02352	T	0.934307	0.76258	D	0.09703224	0.22865	0.08901421	0.20790	0.09703224	0.22865	0.08901421	0.20789	-2.032	0.03304	T	.	.	0.071	0.20547	B	.;.;.	.;.;.	3.132758	0.42339	21.5	0.98748253335093261	0.45618	0.73328	0.35870	D	AEFBI	0.293344	0.40399	N	-0.220276112948713	0.32303	1.820285	-0.0901815128970536	0.35795	2.075193	0.925423525106949	0.26815	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.28	3.39	0.37919	2.024000	0.40670	1.743000	0.28415	0.549000	0.26987	0.951000	0.33123	0.921000	0.28324	0.978000	0.57271	0.3055:0.6153:0.0:0.0792	7.245	0.25290	492	0.76569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1405.33	33	chr2	170040979	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=741;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.04;SOR=0.896	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1419,0,1524	18	0	1	0
chr2	178539675	178539675	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S	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	1498	22	2	0	26	0.00860357	.	.	.	56764	Long_QT_syndrome|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0058	0.00399361	0.0044	0.0006	0.0042	0	0.0009	0.0067	0.0033	0.0009	0.0047412	733	154602	rs149001703	0.0061	0.0061	0.0062	0.0059	0.0108	0.0059	0.0059	0.0086	0.0078	0.0012	0.0063	0.0011	7.558e-05	0.0009	0.0108	0.0072	0.0055	0.0011	0.0050	0.0050	0.0049	0.0050	0.0141	0.0047	0.0046	0.0125	0.0119	0.0012	0.0033	0.0141	0.0006	0	0.0003	0.0034	0.0068	0.0099	0.0004	0.272	0.15930	T	.	.	.	0.044	0.21686	B	0.036	0.22909	B	.	.	.	.	0.925767	0.36814	D	-1.165	0.00881	N	1.31	0.35405	T	-2.26	0.50502	N	0.372	0.53620	-0.9416	0.42362	T	0.024	0.10239	T	9	0.004747838	0.00100	T	.	.	.	0.176	0.44373	.	.	0.144782658237	0.14088	.	.	0.0737544068941	0.08270	0.333610296249	0.15479	T	.	.	.	-0.565098	0.00237	T	-0.575105	0.14984	T	0.0358890173563926	0.02962	T	0.910809	0.68393	D	.	.	.	.	.	.	.	.	0.177	0.00292	T	.	.	0.064	0.01762	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.951309	0.24787	16.52	0.94437002722538843	0.24857	0.97441	0.74770	D	AEFBCI	0.707181	0.66200	D	-0.232602821107118	0.31803	1.786997	0.0708973245925936	0.43093	2.618261	0.99999999989433	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.865000	0.62695	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	16.822	0.85699	423	0.81269	.;.;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	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008056	0.015152	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6389.83	35	chr2	178539675	.	T	C	6389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=1878;ExcessHet=0.119;FS=1.732;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.53;SOR=0.788	GT:AD:DP:GQ:PL	0/1:119,83:202:99:2105,0,3194	17	0	2	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	0/1:61,41:102:99:.:.:309,0,767:.	1	0	17	1
chr2	199925158	199925158	A	T	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A430T:p.N144Y	.	623	894	5	0	0	5	0.00278862	.	.	.	3208070	C2orf69-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.00270416351351	.	0.000399361	0.0006	0	0.0002	0	0	0.0003	0	0.0033	0.0005304	82	154602	rs186306624	0.0004	0.0004	0.0003	0.0006	0.0039	0.0004	0.0004	0.0035	0.0034	0	0.0004	0.0003	0	0	0.0022	0.0002	0.0004	0.0039	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.81e-05	0	0.0002	0.0003	0	0	0	0.0003	0.0019	0.0031	0.065	0.36310	T	0.146	0.32891	T	0.015	0.17086	B	0.034	0.22546	B	0.314658	0.14373	N	0.744629	0.862036	0.28340	N	1.65	0.42232	L	.	.	.	-3.06	0.63090	D	0.18	0.19459	-1.0043	0.28666	T	0.092	0.35119	T	9	0.01052779	0.00234	T	0.002704	0.05550	T	0.025	0.05312	.	.	0.254761474806	0.25079	0.6009532227429295	0.60026	0.505372073468	0.48780	.	.	.	0.037574	0.24526	T	-0.483767	0.00703	T	-0.46978	0.25539	T	0.0200636796739436	0.00707	T	0.687331	0.29630	T	0.07315291	0.16327	0.12000046	0.28962	0.07315291	0.16327	0.12000046	0.28962	-7.246	0.55811	T	.	.	0.120	0.24867	B	.	.	1.894778	0.24068	16.26	0.94473699754494123	0.24923	0.52346	0.29110	D	AEFBI	0.123309	0.23885	N	-0.529049778894993	0.21145	1.120039	-0.459242612195243	0.23286	1.269141	0.00675780374704426	0.11300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	1.2	0.20181	1.067000	0.30227	2.217000	0.31417	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.998000	0.85391	0.5722:0.0:0.292:0.1357	4.510	0.11316	640	0.64132	.	.	.	.	.	.	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	0.000532	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1940.33	36	chr2	199925158	.	A	T	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.391;SOR=0.669	GT:AD:DP:GQ:PL	0/1:107,87:194:99:1954,0,2460	18	0	1	0
chr2	199925327	199925327	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A599G:p.N200S	.	441	1058	22	1	0	24	0.011215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.0277556	0.0163	0.0014	0.0036	0.0982	0.0127	0.0061	0.0145	0.0339	0.015058	2328	154602	rs150129946	0.0091	0.0091	0.0084	0.0099	0.0775	0.0090	0.0089	0.0752	0.0743	0.0012	0.0036	0.0052	0.0775	0.0126	0.0061	0.0048	0.0125	0.0360	0.0084	0.0084	0.0071	0.0099	0.0907	0.0080	0.0079	0.0839	0.0812	0.0014	0	0.0061	0.0043	0.0907	0.0145	0.0034	0.0043	0.0109	0.0365	0.36	0.11919	T	0.806	0.03993	T	0.016	0.17332	B	0.029	0.21540	B	0.000849	0.41440	D	0.261542	0.72905	0.33699	D	0.69	0.16971	N	.	.	.	-0.79	0.21860	N	0.028	0.00618	-1.0462	0.15476	T	0.005	0.01761	T	9	0.001547128	0.00018	T	.	.	.	0.032	0.07718	.	.	.	.	0.17443525607362523	0.17362	0.282605507449	0.30711	.	.	.	0.002084	0.01490	T	-0.642711	0.00080	T	-0.618509	0.11302	T	0.00639136410793986	0.00071	T	0.752925	0.37500	T	0.03661274	0.04537	0.04759537	0.06891	0.03661274	0.04537	0.04759537	0.06890	-3.096	0.11250	T	.	.	0.091	0.12985	B	.	.	1.962724	0.24933	16.58	0.95025572698175864	0.26014	0.92795	0.56564	D	AEFBI	0.155834	0.28109	N	-0.28007695657649	0.29918	1.663456	-0.0498607988241431	0.37496	2.196231	0.892599707885436	0.25887	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	2.398000	0.44140	7.121000	0.57595	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.988000	0.63387	0.9219:0.0:0.0781:0.0	9.408	0.37636	640	0.64132	.	.	.	.	.	.	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	0.006054	0.000000	0.005435	0.005917	0.000000	0.008621	0.012195	0.011364	0.02632	980.33	36	chr2	199925327	.	A	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.56;SOR=0.772	GT:AD:DP:GQ:PL	0/1:44,35:79:99:994,0,1170	18	0	1	0
chr2	200542649	200542649	G	A	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon5:c.G458A:p.R153H,SGO2:NM_001160046:exon5:c.G458A:p.R153H,SGO2:NM_152524:exon5:c.G458A:p.R153H	.	438	1075	9	0	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0219167100076	0.0003	.	0.0005	0.0001	0.0007	0	0	0.0006	0.0022	0.0007	0.0004463	69	154602	rs202174872	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0005	0.0089	0.0081	0.0007	0.0009	0.0001	5.058e-05	3.76e-05	0.0111	0.0005	0.0009	0.0005	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0007	0	0.0002	0.0002	0.0136	0.0005	0.0014	0	0.395	0.10659	T	0.365	0.23501	T	0.007	0.14184	B	0.008	0.13708	B	0.410707	0.13001	N	0.711977	1	0.08975	N	.	.	.	-0.12	0.64630	T	-0.15	0.09297	N	0.139	0.13769	-1.0354	0.18731	T	0.095	0.35897	T	10	0.014786422	0.00311	T	0.021917	0.44752	T	0.017	0.02790	.	.	0.132336055621	0.12781	0.05282767123021306	0.05224	0.0772625545728	0.08684	0.244033172727	0.03165	T	0.065428	0.32686	T	-0.463051	0.00941	T	-0.494265	0.22945	T	0.000585562892622775	0.00005	T	0.711029	0.32195	T	0.023719769	0.01137	0.02392369	0.00407	0.023719769	0.01136	0.02392369	0.00406	-3.519	0.18045	T	.	.	0.089	0.12084	B	.;.	.;.	1.272505	0.16714	12.72	0.64818093490152506	0.07599	0.02031	0.06090	N	AEFBI	0.035371	0.04540	N	-1.35472306695792	0.03076	0.136848	-1.36474666101775	0.03635	0.1699659	0.17805839117721	0.17832	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.2	-2.24	0.06518	-0.474000	0.06686	-0.176000	0.11179	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.4629:0.1239:0.4132:0.0	6.327	0.20453	593	0.68665	.;.	.	.	.	.	.	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	0.013092	0.010101	0.020380	0.020468	0.000000	0.000000	0.003049	0.000000	0.02632	1925.33	34	chr2	200542649	.	G	A	1925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.528;DP=795;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.806;SOR=0.503	GT:AD:DP:GQ:PL	0/1:91,87:178:99:1939,0,2071	18	0	1	0
chr2	210204652	210204652	G	A	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon7:c.C799T:p.R267W	.	1	1509	12	0	0	12	0.0039604	.	.	.	961757	not_provided|Long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0020531,MedGen:C0220711	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.705	0.408641614334	0.0003	0.000199681	0.0006	9.654e-05	0.0004	0.0002	0	0.0006	0.0011	0.0012	0.0005498	85	154602	rs200297060	0.0006	0.0006	0.0006	0.0007	0.0023	0.0006	0.0006	0.0014	0.0014	5.985e-05	0.0004	3.83e-05	5.05e-05	0	0.0023	0.0006	0.0005	0.0017	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0006	0.0006	0.0001	0	0.0004	0	0	9.438e-05	0	0.0008	0	0.0010	0.007	0.59928	D	0.023	0.57104	D	0.239	0.30839	B	0.064	0.27215	B	0.000001	0.84330	D	0.056311	0.999882	0.50402	D	3.13	0.88074	M	-5.66	0.99262	D	-7.24	0.94326	D	0.683	0.68950	0.973	0.96751	D	0.945	0.98215	D	10	0.45657068	0.59026	T	0.408642	0.93551	D	0.705	0.89422	.	.	0.98656492695	0.98641	0.875363944341555	0.87503	0.317858102707	0.34021	0.611904144287	0.54586	T	0.88975	0.97751	D	-0.00712774	0.50666	T	0.186906	0.82392	D	0.225856333971024	0.21753	T	0.931207	0.74412	D	0.5467127	0.69772	0.3989779	0.64473	0.5467127	0.69773	0.3989779	0.64473	-12.897	0.88934	D	.	.	0.113	0.22391	B	.	.	3.807950	0.54910	23.5	0.99285964060629939	0.58078	0.93368	0.58030	D	AEFBI	0.841401	0.75860	D	-0.117231414316774	0.36641	2.120774	-0.0546899957391567	0.37289	2.181241	0.395393702262242	0.20084	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	3.38	0.37806	3.654000	0.54193	3.702000	0.39529	-0.208000	0.08445	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0719:0.0:0.7914:0.1368	10.100	0.41670	704	0.57414	.	.	.	.	.	.	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	0.003021	0.010101	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1245.33	33	chr2	210204652	.	G	A	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.182;SOR=0.673	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1259,0,1054	18	0	1	0
chr2	218634158	218634158	G	T	exonic	PLCD4	.	nonsynonymous SNV	PLCD4:NM_032726:exon12:c.G1660T:p.G554C	.	419	1102	1	0	0	1	0.000453515	.	.	.	4051616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.739	0.101997708052	8.1e-05	.	0.0001	0	0.0003	0	0	0.0002	0	0	7.12e-05	11	154602	rs369726189	4.93e-05	4.994e-05	4.768e-05	5.093e-05	0.0021	3.996e-05	3.672e-05	0.0012	0.0009	0	0.0001	0	0	0	0.0021	4.409e-05	9.942e-05	0	3.286e-05	3.283e-05	6.425e-05	0	7.35e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.145	0.97549	H	0.26	0.59314	T	-8.58	0.97481	D	0.723	0.72477	0.371	0.88663	D	0.557	0.83845	D	10	0.8614643	0.85368	D	0.101998	0.77521	D	0.739	0.90939	.	.	0.888031577584	0.88692	0.7248802491499622	0.72432	0.851204937113	0.68538	0.750844538212	0.74571	T	0.872254	0.97251	D	0.235203	0.77209	D	0.297719	0.88093	D	0.99634450674057	0.89155	D	0.938806	0.91949	D	0.89327425	0.90789	0.8415527	0.90940	0.89327425	0.90791	0.8415527	0.90941	-9.994	0.73876	D	.	.	0.410	0.60106	A	.;.;.	.;.;.	4.963687	0.82096	27.7	0.99703016774993092	0.80798	0.99446	0.96131	D	AEFBI	0.941105	0.94393	D	1.10075506251293	0.98147	17.53887	1.01676592965828	0.98926	19.90779	0.999999999728888	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	9.923000	0.98785	8.599000	0.77719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.028	0.92921	923	0.18507	Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1653.33	41	chr2	218634158	.	G	T	1653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=955;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.404;SOR=0.706	GT:AD:DP:GQ:PL	0/1:103,72:175:99:1667,0,2484	18	0	1	0
chr2	219006485	219006485	C	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon30:c.G4699A:p.E1567K	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00503622355902	0.0004	0.00119808	0.0016	0	0.0005	0	0	0.0007	0.0011	0.0088	0.0014101	218	154602	rs149635127	0.0010	0.0010	0.0009	0.0012	0.0080	0.0010	0.0010	0.0075	0.0073	8.961e-05	0.0005	0.0031	0	0	0.0028	0.0006	0.0012	0.0080	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	2.406e-05	0	0.0004	0.0043	0	0	0	0.0005	0.0009	0.0046	0.376	0.11334	T	0.002	0.79402	D	0.152	0.28062	B	0.058	0.26451	B	0.130895	0.18642	N	0.445778	0.737426	0.29769	N	.	.	.	3.53	0.04852	T	-0.68	0.19509	N	0.197	0.24260	-1.0335	0.19332	T	0.020	0.08220	T	10	0.0048318207	0.00103	T	0.005036	0.12722	T	0.032	0.07718	.	.	0.273070737957	0.26916	0.36986674017828475	0.36900	0.0804903107758	0.09062	0.286842107773	0.08464	T	0.012049	0.10654	T	-0.582721	0.00185	T	-0.603983	0.12478	T	0.020103478559073	0.00711	T	0.634537	0.24876	T	0.13680832	0.31702	0.14295444	0.33991	0.13680832	0.31702	0.14295444	0.33990	-2.262	0.04352	T	.	.	0.075	0.05317	B	.;.	.;.	1.646257	0.21009	15.01	0.99669575394439025	0.78523	0.44148	0.27255	N	AEFBI	0.129140	0.24720	N	-0.377654692256713	0.26266	1.432249	-0.328266726446925	0.27190	1.507017	0.965988178007688	0.28870	0.59774	0.34471	0	0.59043	0.45803	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	2.297000	0.43254	3.062000	0.36164	0.596000	0.33519	0.119000	0.23158	0.431000	0.24855	0.341000	0.25455	0.1848:0.8152:0.0:0.0	11.062	0.47169	599	0.68140	.;.	.	.	.	.	.	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	0.007553	0.000000	0.001359	0.014620	0.050000	0.000000	0.012195	0.011364	0.02632	1541.33	41	chr2	219006485	.	C	T	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.88;DP=791;ExcessHet=0;FS=5.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.106;SOR=1.048	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1555,0,1856	18	0	1	0
chr2	225582058	225582058	A	G	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.A641G:p.K214R,NYAP2:NM_001371273:exon5:c.A641G:p.K214R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0115198083064	0.0002	.	0.0002	0	0	0	0	9.013e-05	0	0.0013	0.0002005	31	154602	rs377255280	0.0002	0.0002	0.0001	0.0002	0.0057	0.0001	0.0001	0.0042	0.0037	2.987e-05	0	0	0	0	0.0057	4.407e-05	0.0002	0.0017	0.0001	0.0001	8.99e-05	0.0001	0.0023	7.084e-05	5.741e-05	0.0013	0.0010	0	0	0	0	0	0	0	8.819e-05	0	0.0023	0.446	0.09101	T	0.521	0.10429	T	0.999	0.77913	D	0.994	0.82059	D	0.000086	0.51296	D	0.169857	0.902278	0.81001	D	1.235	0.30780	L	0.96	0.42888	T	-0.58	0.17417	N	0.177	0.19055	-0.9447	0.41863	T	0.169	0.50874	T	10	0.045532793	0.03636	T	0.01152	0.29227	T	0.116	0.32463	.	.	0.043077524339	0.03247	0.0507034753932133	0.05012	0.326667578844	0.34810	0.556968092918	0.46840	T	0.006561	0.05989	T	-0.534802	0.00360	T	-0.576361	0.14871	T	0.190819540770534	0.19893	T	0.728227	0.34274	T	0.08178637	0.18810	0.09237101	0.21765	0.08178637	0.18809	0.09237101	0.21765	-3.196	0.12432	T	.	.	0.085	0.10111	B	.;.	.;.	2.112540	0.26887	17.27	0.99689580134390254	0.79842	0.86389	0.45659	D	AEFI	0.250954	0.37091	N	0.41313692775845	0.62143	4.42559	0.423222441198756	0.63015	4.527162	0.00718479383067404	0.11405	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	4.75	0.59954	5.002000	0.63701	2.705000	0.34191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.932:0.0:0.068:0.0	11.821	0.51512	691	0.58815	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2343.33	35	chr2	225582058	.	A	G	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=877;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.709;SOR=0.771	GT:AD:DP:GQ:PL	0/1:75,97:172:99:2357,0,1933	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|1:96,80:176:99:0|1:232847516_CACA_C:2867,0,3658:232847516	6	3	10	0
chr3	11018648	11018648	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A421G:p.I141V,SLC6A1:NM_001348251:exon5:c.A61G:p.I21V,SLC6A1:NM_003042:exon5:c.A421G:p.I141V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0134550420386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-06	1.029e-05	1.377e-06	1.388e-06	1.822e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.822e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.336	0.18232	T	0.1	0.25713	B	0.09	0.29851	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-0.81	0.73949	T	-0.8	0.22078	N	0.48	0.51494	-0.6455	0.62909	T	0.281	0.65239	T	10	0.49007845	0.60939	T	0.013455	0.32862	T	0.274	0.59007	0.594	0.72371	0.35158688536	0.34763	0.606656179932116	0.60596	1.10768363041	0.77946	0.767571687698	0.77061	T	0.166415	0.51264	T	0.0481983	0.58110	T	-0.168543	0.57575	T	0.885394752025604	0.53572	D	0.946405	0.79487	D	0.3557571	0.57511	0.3215052	0.58098	0.3557571	0.57512	0.3215052	0.58097	-7.56	0.58031	D	0.21143025180598024	0.28348	0.131	0.40873	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.885109	0.56491	23.7	0.99830203036871212	0.91198	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.0702871894512385	0.45080	2.770647	0.228486286727377	0.51435	3.32594	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	9.197000	0.94121	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	100.59	34	chr3	11018648	.	A	G	100.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.337;DP=1226;ExcessHet=0.119;FS=143.297;InbreedingCoeff=-0.07;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.57;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,16:129:18:0|1:11018647_C_T:18,0,4358:11018647	16	0	2	1
chr3	11018650	11018650	C	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.C423G:p.I141M,SLC6A1:NM_001348251:exon5:c.C63G:p.I21M,SLC6A1:NM_003042:exon5:c.C423G:p.I141M	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.168165705583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.921e-07	2.745e-05	0	1.39e-06	9.12e-07	0	0	.	.	0	0	0	0	0	0	9.12e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.056	0.46632	T	0.997	0.70673	D	0.983	0.75793	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	-0.86	0.74477	T	-2.72	0.57920	D	0.712	0.71498	-0.1389	0.79192	T	0.487	0.80481	T	10	0.740451	0.74920	D	0.168166	0.84634	D	0.549	0.81310	0.642	0.77903	0.775990597106	0.77392	0.7922737914106367	0.79179	2.20691490998	0.95719	0.801707386971	0.82223	T	0.479037	0.80861	T	0.223315	0.76090	D	0.0830001	0.75779	D	0.992396652698517	0.82863	D	0.979902	0.93196	D	0.84575653	0.87024	0.824651	0.89838	0.84575653	0.87025	0.824651	0.89839	-9.95	0.73612	D	0.4152341453612568	0.50488	0.503	0.74451	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.233609	0.28512	17.82	0.99523552016800376	0.69407	0.49042	0.28344	N	AEFDBI	0.466840	0.51432	N	-0.0123338758181482	0.41298	2.467657	-0.19231532369841	0.31818	1.804246	0.126199393065238	0.16994	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-2.98	0.05179	-0.318000	0.08091	-8.895000	0.00897	0.547000	0.25779	0.340000	0.25675	0.000000	0.08366	0.998000	0.85391	0.0:0.2937:0.0:0.7063	13.005	0.58106	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	.	.	.	.	.	.	.	.	0.1111	594.8	102	chr3	11018650	.	C	G	594.8	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.351;DP=1828;ExcessHet=0.7564;FS=184.928;InbreedingCoeff=-0.2947;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.66;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,16:129:18:0|1:11018647_C_T:18,0,4358:11018647	7	0	2	10
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1818	277.31	105	chr3	11018654	.	A	G	277.31	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-3.101;DP=1834;ExcessHet=0.7564;FS=172.536;InbreedingCoeff=-0.2748;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.95;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,16:128:21:0|1:11018647_C_T:21,0,4291:11018647	7	0	4	8
chr3	14821382	14821382	A	G	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.A2311G:p.T771A,FGD5:NM_152536:exon1:c.A2311G:p.T771A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0599666342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758102680	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.92824	D	0.999	0.77913	D	0.98	0.79672	D	0.000012	0.62929	D	0.000000	0.999999	0.58761	D	2.395	0.69210	M	-1.15	0.77964	T	-2.96	0.61722	D	0.501	0.60664	0.314	0.87773	D	0.612	0.86283	D	10	0.5589818	0.64680	D	0.059967	0.67842	D	0.440	0.74377	0.17	0.07536	0.82761734433	0.82598	0.498132606413672	0.49734	0.647461528529	0.58125	0.664123654366	0.61999	T	0.045417	0.27117	T	0.100428	0.64338	D	-0.0935188	0.63896	T	0.949006378650665	0.63018	D	0.781022	0.41604	T	0.3377255	0.56098	0.374615	0.62623	0.3377255	0.56098	0.374615	0.62623	-7.097	0.54739	T	.	.	0.411	0.60199	A	.;.;.	.;.;.	4.119486	0.61562	24.4	0.99808404486233249	0.89264	0.98426	0.82655	D	AEFDBI	0.886524	0.81799	D	0.774308025875422	0.84476	8.298314	0.735081247778577	0.85037	8.463136	0.999999960381602	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	8.617000	0.90710	6.977000	0.57111	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.079	0.71772	923	0.18507	.;.;.	.	.	.	.	.	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	2005.33	36	chr3	14821382	.	A	G	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.573;SOR=0.697	GT:AD:DP:GQ:PL	0/1:105,91:196:99:2019,0,2610	18	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,47:185:99:.:.:243,0,2417:.	8	0	11	0
chr3	32873854	32873854	A	G	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon2:c.A889G:p.I297V	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	.	0.000798722	0.0018	0.0001	8.657e-05	0	0	1.516e-05	0	0.0148	0.0014618	226	154602	rs530720674	0.0008	0.0008	0.0004	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0	0	0	0	0	0.0009	2.88e-05	0.0007	0.0129	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	2.411e-05	0	0	0	0	0	0	0	0	0.0121	0.271	0.15984	T	0.358	0.17064	T	0.993	0.65571	D	0.987	0.77487	D	0.000001	0.62929	U	0.000000	1	0.81001	D	1.02	0.25474	L	0.96	0.42888	T	-0.57	0.17210	N	0.276	0.31253	-0.9559	0.39934	T	0.171	0.51197	T	10	0.015493184	0.00325	T	.	.	.	0.204	0.49076	0.564	0.68499	0.440933369655	0.43716	0.37916615449894325	0.37831	0.886304860184	0.70013	0.671640992165	0.63071	T	0.082684	0.36884	T	-0.377469	0.03232	T	-0.304597	0.44238	T	0.0950434490508009	0.11803	T	0.832517	0.50110	T	0.11061842	0.26145	0.081068866	0.18393	0.11061842	0.26144	0.081068866	0.18393	-4.924	0.36004	T	.	.	0.179	0.39029	B	.	.	2.447179	0.31507	18.76	0.99643338050678387	0.76819	0.96033	0.67230	D	AEFDGBHCI	0.688586	0.64953	D	0.479129773976413	0.65871	4.877484	0.515321809838017	0.69019	5.301078	1.0	0.98316	0.645754	0.44609	0	0.615948	0.52940	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	5.224000	0.65119	6.990000	0.57158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.778	0.69366	849	0.35778	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.007576	0.02632	1496.33	37	chr3	32873854	.	A	G	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.919;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.15;SOR=0.661	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1510,0,1397	18	0	1	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I	Nemaline myopathy 8, autosomal recessive	418	1070	32	2	0	36	0.0165441	.	.	.	251129	not_provided|Nemaline_myopathy_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	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	0.005435	0.011696	0.000000	0.000000	0.009202	0.015152	0.02632	1007.33	39	chr3	42690989	.	C	A	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.828;DP=721;ExcessHet=0;FS=3.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.386;SOR=0.367	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1021,0,953	18	0	1	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L	.	421	1052	47	2	0	51	0.0236659	.	.	.	698156	not_provided|CELSR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Likely benign	0	0	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	0.028701	0.010101	0.047554	0.020588	0.000000	0.017241	0.021341	0.022727	0.02632	1739.33	33	chr3	48639758	.	G	A	1739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=797;ExcessHet=0;FS=3.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.651;SOR=0.889	GT:AD:DP:GQ:PL	0/1:99,72:171:99:1753,0,2580	18	0	1	0
chr3	48640298	48640298	A	G	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.T9287C:p.L3096P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.247983366108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	0.999917	0.51042	D	0.695	0.17993	N	-0.6	0.71662	T	-1.0	0.26422	N	0.287	0.32481	-0.8966	0.48331	T	0.150	0.47734	T	9	0.18615553	0.34068	T	0.247983	0.88991	D	0.290	0.60924	0.128	0.03331	0.746981172926	0.74469	0.15710673650637613	0.15631	0.487422719547	0.47563	0.650024414062	0.59989	T	0.157781	0.50052	T	0.0133111	0.53478	T	-0.218656	0.52866	T	0.374194279216919	0.27959	T	0.587141	0.21465	T	0.23424226	0.46241	0.2375355	0.49054	0.23424226	0.46241	0.2375355	0.49053	-3.059	0.10831	T	.	.	0.056	0.00428	B	.	.	3.176438	0.43098	21.7	0.98130148263311034	0.38514	0.87532	0.47102	D	AEFBI	0.293292	0.40395	N	-0.410288523721983	0.25109	1.360549	-0.271167386025925	0.29052	1.624671	0.996941171801605	0.35138	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.03	2.89	0.32713	2.476000	0.44830	6.843000	0.56720	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.8179:0.0:0.1821:0.0	5.990	0.18688	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1324.33	33	chr3	48640298	.	A	G	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.046;DP=732;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.061;SOR=0.601	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1338,0,1338	18	0	1	0
chr3	50219955	50219955	G	A	exonic	SLC38A3	.	nonsynonymous SNV	SLC38A3:NM_006841:exon15:c.G1381A:p.E461K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	4.104e-06	5.449e-06	1.376e-06	2.52e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.52e-05	0	0	2.699e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	2.595	0.75868	M	.	.	.	.	.	.	0.768	0.76573	.	.	.	.	.	.	.	0.7785865	0.77664	D	.	.	.	.	.	.	.	0.550675598306	0.54725	0.8154444795544619	0.81500	.	.	0.458853423595	0.33153	T	0.15246	0.49287	T	0.319444	0.84433	D	0.221083	0.84230	D	.	.	.	0.910909	0.68443	D	0.28574216	0.51594	0.5078556	0.71557	0.28574216	0.51594	0.5078556	0.71558	-5.355	0.40484	T	.	.	0.619	0.69665	P	.	.	4.909303	0.80764	27.4	0.78035842450204829	0.12128	0.96894	0.71520	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999454	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.092715	0.02821	0	0.975507	0.78449	5.68	5.68	0.88021	9.500000	0.96964	11.740000	0.95175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	17.279	0.87010	3	0.99430	Amino acid transporter, transmembrane 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	1607.33	35	chr3	50219955	.	G	A	1607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=765;ExcessHet=0;FS=0.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.341;SOR=0.589	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1621,0,1705	18	0	1	0
chr3	53292458	53292458	G	T	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C517A:p.P173T,DCP1A:NM_001290204:exon6:c.C880A:p.P294T,DCP1A:NM_001290206:exon6:c.C631A:p.P211T,DCP1A:NM_018403:exon7:c.C994A:p.P332T,DCP1A:NM_001290205:exon8:c.C778A:p.P260T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0505120082266	0.0062	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.005181	801	154602	rs34229192	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0011	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0054	0	0.0080	0.0024	0.0006	.	.	.	0.56	0.18959	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.95	0.52479	M	.	.	.	.	.	.	0.27	0.36464	.	.	.	.	.	.	.	0.0080038905	0.00182	T	0.050512	0.64274	D	.	.	.	.	0.324009150485	0.32011	0.38244878352603096	0.38159	.	.	0.338424742222	0.16202	T	0.01075	0.09672	T	-0.269599	0.11801	T	-0.154064	0.58883	T	.	.	.	0.828817	0.49341	T	0.2888838	0.51888	0.5038363	0.71320	0.2888838	0.51888	0.5038363	0.71320	-3.917	0.22557	T	.	.	0.064	0.04002	B	.;.	.;.	2.125515	0.27058	17.33	0.86176792881069075	0.16363	0.86977	0.46383	D	AEFGBCI	0.222494	0.34698	N	.	.	.	.	.	.	0.974666095230642	0.29562	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	4.86	3.97	0.45241	1.717000	0.37612	4.615000	0.44052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.421	0.60447	446	0.79659	.;.	.	.	.	.	rs34229192	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1866.33	37	chr3	53292458	.	G	T	1866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.182;DP=871;ExcessHet=0;FS=2.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.296;SOR=0.914	GT:AD:DP:GQ:PL	0/1:103,74:177:99:1880,0,2922	18	0	1	0
chr3	53292562	53292562	G	C	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C413G:p.A138G,DCP1A:NM_001290204:exon6:c.C776G:p.A259G,DCP1A:NM_001290206:exon6:c.C527G:p.A176G,DCP1A:NM_018403:exon7:c.C890G:p.A297G,DCP1A:NM_001290205:exon8:c.C674G:p.A225G	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349665841121	0.0063	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.0051875	802	154602	rs35988197	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0010	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0053	0	0.0079	0.0024	0.0006	.	.	.	0.389	0.21011	T	0.988	0.62325	D	0.76	0.56425	P	.	.	.	.	.	.	.	1.78	0.46185	L	.	.	.	.	.	.	0.395	0.49692	.	.	.	.	.	.	.	0.009402096	0.00212	T	0.034967	0.56032	D	.	.	.	.	0.541875923249	0.53840	0.2256122484868594	0.22476	.	.	0.470529198647	0.34753	T	0.011278	0.10082	T	-0.224975	0.17318	T	-0.0899644	0.64164	T	.	.	.	0.849315	0.53201	T	0.16626175	0.36950	0.48547235	0.70218	0.16626175	0.36949	0.48547235	0.70219	-4.523	0.31188	T	.	.	0.131	0.39064	B	.;.	.;.	3.857926	0.55934	23.7	0.83482152682483601	0.14750	0.95973	0.66961	D	AEFBI	0.498457	0.53255	N	.	.	.	.	.	.	0.9933578246098	0.33183	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	5.31	5.31	0.75063	4.873000	0.62751	9.559000	0.80991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1442:0.8558:0.0	14.743	0.69087	446	0.79659	.;.	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1489.33	37	chr3	53292562	.	G	C	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.485;DP=851;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.89;SOR=0.715	GT:AD:DP:GQ:PL	0/1:92,64:158:99:1503,0,2563	18	0	1	0
chr3	58077281	58077281	C	G	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon2:c.C528G:p.D176E,FLNB:NM_001164318:exon2:c.C528G:p.D176E,FLNB:NM_001164319:exon2:c.C528G:p.D176E,FLNB:NM_001457:exon2:c.C528G:p.D176E	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3845909	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.914	0.511540451279	.	0.000199681	1.653e-05	0	0	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs202241565	1.231e-05	1.231e-05	1.77e-05	6.876e-06	0.0002	7.7e-06	6.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.312e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-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	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.087940	0.999979	0.53665	D	2.61	0.76335	M	-3.39	0.94210	D	-3.73	0.70920	D	0.811	0.93018	0.771	0.94058	D	0.859	0.95309	D	10	0.89421344	0.88771	D	0.51154	0.95309	D	0.914	0.97738	0.749	0.87988	0.971991250286	0.97168	0.7481681976522424	0.74762	1.94421044628	0.93273	0.799761652946	0.81926	T	0.865966	0.97064	D	0.396542	0.89713	D	0.439485	0.93307	D	0.96546459197998	0.67276	D	0.984102	0.94582	D	0.8495075	0.87298	0.6975229	0.82186	0.8495075	0.87300	0.6975229	0.82187	-12.073	0.85205	D	0.5859632678869431	0.65275	0.987	0.92685	P	.;.;.;.	.;.;.;.	3.000153	0.40085	21.1	0.99655341565911115	0.77568	0.94396	0.61032	D	AEFDGBI	0.495435	0.53080	N	0.421780746860481	0.62620	4.48106	0.334274130142172	0.57564	3.92271	0.99999574514703	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.04	3.25	0.36363	1.804000	0.38510	-0.221000	0.10763	-0.176000	0.10722	1.000000	0.71638	0.217000	0.23687	0.971000	0.54645	0.0:0.6892:0.0:0.3108	8.136	0.30214	506	0.75555	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr3	58077281	.	C	G	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=767;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.212;SOR=0.775	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1676,0,2070	18	0	1	0
chr3	58168601	58168601	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon43:c.G7288A:p.V2430I,FLNB:NM_001164318:exon44:c.G7327A:p.V2443I,FLNB:NM_001457:exon44:c.G7360A:p.V2454I,FLNB:NM_001164317:exon45:c.G7453A:p.V2485I	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	500635	not_provided|FLNB-Related_Spectrum_Disorders	MedGen:C3661900|MedGen:CN239400	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.237	0.0429541431207	0.0012	0.000199681	0.0015	0.0003	8.646e-05	0.0002	0.0020	0.0024	0.0022	0.0004	0.0013389	207	154602	rs146499414	0.0010	0.0010	0.0010	0.0010	0.0007	0.0010	0.0010	0.0003	0.0003	8.961e-05	6.708e-05	0.0314	2.519e-05	0.0025	0.0007	0.0003	0.0030	0.0005	0.0013	0.0013	0.0014	0.0012	0.0012	0.0012	0.0011	0.0005	0.0004	9.619e-05	0	0	0.0372	0	0.0020	0	0.0006	0	0.0012	0.784	0.03253	T	1.0	0.03840	T	0.03	0.22733	B	0.044	0.24394	B	0.000144	0.49130	D	0.141760	0.998439	0.81001	D	-0.705	0.01820	N	-2.18	0.86722	D	0.61	0.02480	N	0.126	0.13198	-0.6947	0.60689	T	0.302	0.67344	T	10	0.008996904	0.00203	T	0.042954	0.60734	D	0.237	0.54074	.	.	0.502130797271	0.49849	0.09903369202012345	0.09834	0.222724169244	0.24812	0.420743077993	0.27937	T	0.259295	0.63054	T	-0.31436	0.07369	T	-0.264866	0.48337	T	0.0110279821840682	0.00159	T	0.90421	0.66396	D	0.022251276	0.00876	0.033477206	0.02250	0.022216326	0.00869	0.04445868	0.05763	-1.189	0.01235	T	.	.	0.060	0.02200	B	.;.;.;.;.;.	.;.;.;.;.;.	2.268031	0.28984	17.98	0.8662259260267825	0.16660	0.80082	0.39816	D	AEFBHCI	0.389385	0.46862	N	-0.541880510714172	0.20739	1.095517	-0.336828055912744	0.26919	1.490216	0.999999239949116	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.67	3.79	0.42757	2.712000	0.46854	3.501000	0.38778	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.493000	0.28859	0.1585:0.0:0.8415:0.0	10.396	0.43382	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1497.33	37	chr3	58168601	.	G	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.377;DP=814;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.561;SOR=0.593	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1511,0,1137	18	0	1	0
chr3	63912696	63912696	A	C	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.A98C:p.Q33P,ATXN7:NM_001377406:exon2:c.A98C:p.Q33P,ATXN7:NM_000333:exon3:c.A98C:p.Q33P,ATXN7:NM_001377405:exon3:c.A98C:p.Q33P	Spinocerebellar ataxia 7, Autosomal dominant	41	1480	1	0	0	1	0.000337724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0297112532598	.	0.000998403	0.0012	0	0	0	0	0.0086	0	0	7.76e-05	12	154602	rs538503525	0.0004	0.0004	0.0004	0.0004	0.0156	0.0003	0.0003	0.0139	0.0133	0.0015	0.0011	0	0.0156	0	0	0.0001	0.0003	8.516e-05	0.0010	0.0010	0.0009	0.0011	0.0054	0.0009	0.0008	0.0038	0.0033	0.0024	0	0.0009	0	0.0054	0.0001	0	0.0002	0.0005	0.0002	0.033	0.49613	D	0.11	0.37310	T	0.824	0.60733	P	0.507	0.64171	P	.	.	.	.	0.803679	0.29084	N	0	0.06538	N	2.39	0.15724	T	-0.67	0.19297	N	0.392	0.43417	-1.0833	0.06720	T	0.067	0.27674	T	9	0.0067643225	0.00154	T	0.029711	0.52165	D	0.077	0.22490	.	.	0.411923116668	0.40804	0.3081436967785667	0.35754	.	.	0.818183541298	0.84750	D	0.138915	0.47266	T	-0.133524	0.30926	T	-0.429574	0.29983	T	0.068770388505558	0.08478	T	0.339666	0.09873	T	0.19486837	0.41253	0.35773236	0.61262	0.19486837	0.41253	0.35773236	0.61262	-7.617	0.58430	D	.	.	0.070	0.06114	B	.;.;.;.;.	.;.;.;.;.	2.167728	0.27620	17.52	0.93122763975924649	0.22759	0.80307	0.39979	D	ALL	0.202555	0.32914	N	0.054495465977598	0.44350	2.710642	-0.0230354325133135	0.38675	2.28209	0.999999999999999	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	2.86	2.86	0.32427	0.401000	0.20673	0.571000	0.19607	0.539000	0.25131	1.000000	0.71638	0.953000	0.29079	0.759000	0.36109	1.0:0.0:0.0:0.0	7.552	0.26972	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	1	0	0	0	0	0	0	0.001548	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	73.4	20	chr3	63912696	.	A	C	73.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=0.389;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,3:11:87:1|0:63912684_G_GGCAGCA:87,0,287:63912684	18	0	1	0
chr3	64533267	64533267	G	T	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon37:c.C5533A:p.R1845S,ADAMTS9:NM_182920:exon38:c.C5617A:p.R1873S	.	434	1084	4	0	0	4	0.00184162	.	.	.	2219399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0509867807435	7.7e-05	.	0.0001	0	8.654e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs372271088	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.77e-05	0.0007	0.0005	0	8.946e-05	0	0	0	0.0014	0.0001	0.0001	1.16e-05	5.258e-05	5.254e-05	5.139e-05	5.383e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.025	0.52492	D	0.013	0.63109	D	0.981	0.59675	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-3.03	0.62747	D	0.784	0.80572	-1.0802	0.07310	T	0.095	0.35950	T	10	0.83027136	0.82192	D	0.050987	0.64471	D	0.404	0.71714	.	.	0.645464088254	0.64252	0.7166796118980967	0.71610	0.787745447411	0.65616	0.732623100281	0.71889	T	0.147943	0.48627	T	-0.0661436	0.41942	T	-0.0426441	0.67523	D	0.476626098155975	0.31773	T	0.927507	0.73308	D	0.6493464	0.75328	0.46051538	0.68666	0.6493464	0.75330	0.46051538	0.68667	-9.345	0.69889	D	.	.	0.291	0.65314	B	.;.	.;.	5.549114	0.92035	32	0.99826779131858168	0.90939	0.94528	0.61457	D	AEFBCI	0.907423	0.86143	D	0.727166853124651	0.81413	7.516374	0.73275711695203	0.84865	8.412788	0.999999999346754	0.74766	0.562547	0.31514	0	0.547309	0.14657	0	0.61531	0.40942	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	8.735000	0.91247	11.496000	0.92946	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.722	0.91661	773	0.48803	Peptidase M12B, GON-ADAMTSs|Peptidase M12B, GON-ADAMTSs;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	794.33	35	chr3	64533267	.	G	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=725;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=1.08;SOR=0.968	GT:AD:DP:GQ:PL	0/1:54,39:93:99:808,0,1229	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|1:61,137:198:99:0|1:75730450_C_T:5497,0,2149:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,13:75:99:0|1:75730611_G_T:302,0,2507:75730611	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,58:116:99:0|1:75736884_G_GA:1932,0,2225:75736884	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|1:63,62:125:99:0|1:75736884_G_GA:2405,0,2459:75736884	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	0/1:75,54:131:99:.:.:2187,0,2972:.	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|1:79,59:138:99:0|1:75736908_C_T:2231,0,3129:75736908	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	0/1:95,49:144:99:1192,0,2593	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	0/1:88,87:175:99:2203,0,2251	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	0/1:90,114:204:99:.:.:2890,0,3312:.	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|1:103,118:221:99:0|1:75737092_C_T:4645,0,3961:75737092	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|1:104,118:222:99:0|1:75737092_C_T:4642,0,3983:75737092	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|1:107,116:223:99:0|1:75737092_C_T:4549,0,3988:75737092	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	0/1:104,101:205:99:.:.:3431,0,3935:.	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	0/1:95,58:153:99:.:.:2150,0,3673:.	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|1:89,15:104:99:0|1:75737228_T_C:262,0,3503:75737228	7	0	12	0
chr3	75737432	75737432	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2191G:p.M731V,ZNF717:NM_001290208:exon5:c.A2191G:p.M731V,ZNF717:NM_001290209:exon5:c.A2041G:p.M681V	.	327	1193	2	0	0	2	0.000837521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000798811264289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970408528	6.416e-06	6.841e-06	8.444e-06	4.334e-06	0.0002	3.02e-06	2.19e-06	9.22e-06	3.45e-06	0	0	0	5.567e-05	0	0.0002	1.85e-06	6.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.29720	N	.	.	.	3.32	0.06214	T	-0.1	0.08495	N	0.044	0.01658	-0.9609	0.39012	T	0.016	0.06425	T	9	0.07448462	0.11390	T	7.99E-4	0.00629	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.017995381911134797	0.01753	.	.	0.290602117777	0.09010	T	.	.	.	-0.191343	0.22062	T	-0.512627	0.21046	T	0.0411555045945869	0.03900	T	0.0953905	0.00711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02518	B	.	.	0.730558	0.10996	7.658	0.37201905252011835	0.02437	0.01152	0.04164	N	AEFDBHCI	0.073079	0.14605	N	-1.33806866314382	0.03250	0.1448652	-1.42357960019624	0.03018	0.1399707	0.99994101693999	0.47345	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.49	0.19	0.14406	-1.959000	0.01609	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2697:0.0:0.2747:0.4557	2.53	0.04415	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	.	.	.	.	.	.	.	.	0.02632	1793.33	179	chr3	75737432	.	T	C	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=3133;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.06;MQRankSum=1.24;QD=8.75;ReadPosRankSum=2.13;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,56:205:99:0|1:75737432_T_C:1807,0,5970:75737432	18	0	1	0
chr3	75737449	75737449	G	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2174G:p.T725R,ZNF717:NM_001290208:exon5:c.C2174G:p.T725R,ZNF717:NM_001290209:exon5:c.C2024G:p.T675R	.	313	1207	2	0	0	2	0.000827815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00253471366253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.138e-06	2.053e-06	1.407e-06	2.888e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	3.431e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.23	0.06931	T	0.02	0.06739	N	0.23	0.25867	-1.1097	0.03096	T	0.051	0.21650	T	9	0.16191414	0.30358	T	0.002535	0.05065	T	0.179	0.44899	.	.	0.0551355673512	0.04727	0.023024040397825355	0.02254	.	.	0.387971907854	0.23384	T	.	.	.	-0.137075	0.30356	T	-0.434675	0.29406	T	0.381920724679947	0.28256	T	0.170383	0.01611	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.409718	0.18251	13.63	0.9139004390069897	0.20656	0.31492	0.24350	N	AEFDBHCI	0.188805	0.31607	N	0.033069091646845	0.43365	2.630808	-0.199878160374372	0.31542	1.785994	0.999990884608289	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.75	1.75	0.23707	1.937000	0.39821	.	.	0.458000	0.21545	1.000000	0.71638	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	9.630	0.38936	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	.	.	.	.	.	.	.	.	0.02632	1772.33	193	chr3	75737449	.	G	C	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=3228;ExcessHet=0;FS=3.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.92;MQRankSum=1.19;QD=8.17;ReadPosRankSum=0.111;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,56:217:99:0|1:75737432_T_C:1786,0,6413:75737432	18	0	1	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|1:98,191:289:99:0|1:75737519_G_A:7454,0,3391:75737519	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|1:100,218:318:99:0|1:75737586_A_T:8834,0,3543:75737586	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|1:96,235:331:99:0|1:75737586_A_T:9579,0,3324:75737586	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|1:94,244:338:99:0|1:75737586_A_T:9963,0,3213:75737586	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|1:87,245:332:99:0|1:75737586_A_T:10026,0,2916:75737586	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|1:81,233:314:99:0|1:75737586_A_T:9540,0,2700:75737586	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|1:104,166:270:99:0|1:75737814_C_T:6430,0,3616:75737814	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|1:126,90:216:99:0|1:75737881_T_C:3071,0,4818:75737881	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|1:126,76:202:99:0|1:75737881_T_C:2706,0,4974:75737881	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|1:124,71:195:99:0|1:75737881_T_C:2573,0,4944:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:153,21:174:99:421,0,6236	13	0	6	0
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	0/1:116,42:158:99:655,0,3294	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	0/1:39,54:93:99:1256,0,1173	1	0	18	0
chr3	77580008	77580008	G	A	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001378193:exon16:c.G2390A:p.R797Q,ROBO2:NM_001378197:exon16:c.G2390A:p.R797Q,ROBO2:NM_002942:exon16:c.G2390A:p.R797Q,ROBO2:NM_001290039:exon17:c.G2402A:p.R801Q,ROBO2:NM_001290040:exon17:c.G2402A:p.R801Q,ROBO2:NM_001290065:exon17:c.G611A:p.R204Q,ROBO2:NM_001378192:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378194:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378198:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378199:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378202:exon17:c.G2402A:p.R801Q	Vesicoureteral reflux 2	0	1515	7	0	0	7	0.00230491	.	.	.	622098	Congenital_anomaly_of_kidney_and_urinary_tract|not_provided	MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.389	0.575818480957	.	.	4.973e-05	0	0	0	0	7.497e-05	0	6.057e-05	3.88e-05	6	154602	rs201678507	4.447e-05	4.446e-05	4.221e-05	4.676e-05	0.0009	3.575e-05	3.258e-05	0.0003	0.0002	2.988e-05	2.236e-05	0	0	0	0.0009	3.328e-05	8.281e-05	0.0002	2.631e-05	2.627e-05	3.857e-05	1.347e-05	6.563e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.563e-05	0	0	0	0	2.941e-05	0.0005	0	0.377	0.11478	T	0.331	0.22291	T	0.995	0.67487	D	0.87	0.61806	P	0.002315	0.36806	U	0.000000	.	.	.	0.84	0.21119	L	0.41	0.57100	T	-1.44	0.35399	N	0.921	0.93959	-0.9088	0.47001	T	0.204	0.56224	T	9	0.6948363	0.72078	D	0.575818	0.96181	D	0.389	0.70521	0.672	0.81002	0.936176637225	0.93551	0.564047401222642	0.56331	0.564210339272	0.52818	0.686376988888	0.65185	T	0.120751	0.44323	T	0.0964989	0.63912	D	0.137506	0.79383	D	0.403245389461517	0.29064	T	0.957904	0.84151	D	0.36438426	0.58167	0.23745362	0.49043	0.34447253	0.56633	0.23664348	0.48940	-6.647	0.51554	T	.	.	0.268	0.52590	B	.;.;.;.;.	.;.;.;.;.	5.394793	0.90367	31	0.99939317707407094	0.99734	0.99052	0.90523	D	AEFI	0.914426	0.87776	D	0.496038807880149	0.66857	5.004876	0.543053891707383	0.70916	5.576055	0.999999958183019	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	9.941000	0.98916	9.911000	0.82427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	19.050	0.93023	679	0.60090	.;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;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	.	.	.	.	.	.	.	.	0.02632	893.33	33	chr3	77580008	.	G	A	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=712;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.49;SOR=0.804	GT:AD:DP:GQ:PL	0/1:58,36:94:99:907,0,1405	18	0	1	0
chr3	97876355	97876355	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5161C:p.D1721H	.	546	962	14	0	0	14	0.00722394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs184723985	0.0018	0.0013	0.0017	0.0019	0.0045	0.0017	0.0017	0.0026	0.0021	0.0002	0.0021	0.0314	3.77e-05	0.0001	0.0045	0.0014	0.0033	0.0009	0.0019	0.0019	0.0018	0.0020	0.0019	0.0017	0.0016	0.0015	0.0014	0.0004	0.0066	0.0019	0.0283	0	0	0.0034	0.0018	0.0038	0.0015	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	0.007268429	0.00165	T	.	.	.	.	.	.	.	0.652000541684	0.64910	0.047204641125051655	0.04663	.	.	.	.	.	0.007194	0.06605	T	-0.334989	0.05743	T	-0.261229	0.48701	T	.	.	.	0.576842	0.20728	T	0.12326695	0.28948	0.27458337	0.53388	0.12326695	0.28948	0.27458337	0.53387	-5.962	0.45960	T	.	.	0.213	0.44148	B	.	.	1.889782	0.24000	16.23	0.58158180620391209	0.05930	0.11385	0.16599	N	AEFBI	.	.	.	.	.	.	.	.	.	7.03257526286482E-4	0.07666	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.777257	0.45976	5.17	4.22	0.49153	0.692000	0.25161	2.076000	0.30469	0.676000	0.76740	0.035000	0.20724	0.027000	0.21108	0.427000	0.27384	0.0941:0.165:0.7409:0.0	8.135	0.30208	798	0.45050	.	.	.	.	.	.	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	2555.33	41	chr3	97876355	.	G	C	2555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=2401;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.633;SOR=0.754	GT:AD:DP:GQ:PL	0/1:99,100:199:99:2569,0,2594	18	0	1	0
chr3	101242904	101242904	C	G	exonic	IMPG2	.	nonsynonymous SNV	IMPG2:NM_016247:exon14:c.G2806C:p.V936L	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0280324295809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.841e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	1.18	0.37746	T	-1.4	0.34596	N	0.343	0.38438	-0.9961	0.31001	T	0.147	0.47255	T	10	0.42235488	0.56948	T	0.028032	0.50763	D	0.216	0.50959	0.438	0.49157	0.72916163003	0.72675	0.4936535912255155	0.49286	0.380877868181	0.39448	0.772289156914	0.77768	T	0.088848	0.38246	T	-0.0330824	0.46968	T	-0.285297	0.46259	T	0.973632156848907	0.70176	D	0.921608	0.71541	D	0.26285192	0.49348	0.23741142	0.49038	0.26285192	0.49348	0.23741142	0.49037	-5.556	0.42388	T	0.6442071349368309	0.71536	0.487	0.63997	A	.	.	4.036958	0.59739	24.1	0.99741182614761226	0.83482	0.98097	0.79572	D	AEFBI	0.879732	0.80589	D	0.573391220638474	0.71516	5.662984	0.606080461220114	0.75379	6.300418	0.999999999963597	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	4.667000	0.61255	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	19.048	0.93013	279	0.89001	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	37	chr3	101242904	.	C	G	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=1.05;QD=13.51;ReadPosRankSum=0.195;SOR=0.73	GT:AD:DP:GQ:PL	0/1:33,34:67:99:919,0,892	18	0	1	0
chr3	112109565	112109565	C	T	exonic	C3orf52	.	nonsynonymous SNV	C3orf52:NM_024616:exon4:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0280553630877	.	.	3.644e-05	0	0	0	0.0003	3.272e-05	0	0	3.23e-05	5	154602	rs761711287	3.174e-05	3.763e-05	4.123e-05	2.218e-05	0.0002	2.433e-05	2.176e-05	1.932e-05	1.677e-05	0	0	0	0	0.0002	0.0002	2.725e-05	3.335e-05	1.169e-05	8.542e-05	8.532e-05	7.712e-05	9.409e-05	0.0001	4.957e-05	3.962e-05	6.804e-05	5.088e-05	2.409e-05	0	0	0	0	0.0003	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.22	0.59851	T	-5.11	0.83092	D	0.788	0.78451	-0.2684	0.75855	T	0.368	0.72818	T	10	0.6387961	0.68936	D	0.028055	0.50789	D	0.270	0.58507	0.237	0.16760	0.481468437379	0.47776	.	.	.	.	.	.	.	.	.	.	-0.0381763	0.46219	T	0.025459	0.71984	D	0.449752628803253	0.30788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.62989	A	.	.	4.767003	0.77135	26.6	0.99873374442155094	0.95076	0.78351	0.38643	D	AEFDGBHI	0.346039	0.44099	N	0.497923456323009	0.66967	5.019434	0.381460410834515	0.60420	4.229635	0.999999998417873	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	3.958000	0.56444	7.527000	0.59855	0.580000	0.29708	0.909000	0.31653	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	14.133	0.64801	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1471.33	116	chr3	112109565	.	C	T	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=1623;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.025;SOR=0.512	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1485,0,1649	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	0/1:59,15:74:87:.:.:87,0,1317:.	3	0	16	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28,COL6A5:NM_153264:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	545.79	48	chr3	130421333	.	AGGAT	A	545.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.13;DP=765;ExcessHet=0.119;FS=88.032;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=1.21;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:99:0|1:130421333_AGGAT_A:362,0,1894:130421333	17	0	2	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	540.41	48	chr3	130421334	.	G	*	540.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:99:0|1:130421333_AGGAT_A:362,0,1894:130421333	17	0	2	0
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	5712.42	63	chr3	130421335	.	G	*	5712.42	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:99:0|1:130421333_AGGAT_A:362,0,1894:130421333	14	0	2	3
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6329.56	63	chr3	130421337	.	T	*	6329.56	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,20:72:99:0|1:130421333_AGGAT_A:362,0,1894:130421333	14	0	2	3
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10,COL6A5:NM_153264:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2384.72	56	chr3	130421338	.	T	TCACC	2384.72	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.854;DP=1150;ExcessHet=8.9063;FS=144.438;InbreedingCoeff=-0.485;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.37;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,20:69:99:0|1:130421333_AGGAT_A:371,0,1797:130421333	14	0	2	3
chr3	141974061	141974061	C	T	exonic	TFDP2	.	nonsynonymous SNV	TFDP2:NM_001178142:exon3:c.G242A:p.C81Y,TFDP2:NM_001375779:exon4:c.G311A:p.C104Y,TFDP2:NM_001178140:exon5:c.G566A:p.C189Y,TFDP2:NM_001178141:exon5:c.G359A:p.C120Y,TFDP2:NM_001375756:exon6:c.G467A:p.C156Y,TFDP2:NM_001375774:exon6:c.G599A:p.C200Y,TFDP2:NM_001375780:exon6:c.G311A:p.C104Y,TFDP2:NM_006286:exon6:c.G470A:p.C157Y,TFDP2:NM_001178139:exon8:c.G650A:p.C217Y,TFDP2:NM_001375773:exon8:c.G653A:p.C218Y,TFDP2:NM_001178138:exon9:c.G470A:p.C157Y,TFDP2:NM_001375775:exon9:c.G584A:p.C195Y,TFDP2:NM_001375776:exon9:c.G470A:p.C157Y,TFDP2:NM_001375778:exon9:c.G467A:p.C156Y	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.0760620500717	0.0003	.	0.0004	0	8.639e-05	0	0	0.0004	0	0.0011	0.0003881	60	154602	rs199842925	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	9.01e-05	0.0002	0.0004	2.54e-05	0	0.0005	0.0005	0.0005	0.0008	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0002	0.0003	0	0	0	0.0005	0.0005	0.0004	0.05	0.39575	D	0.132	0.35455	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	1.7	0.49642	T	-8.63	0.98162	D	0.884	0.88246	-0.6348	0.63367	T	0.290	0.66182	T	10	0.5726603	0.65405	D	0.076062	0.72440	D	0.467	0.76222	.	.	0.276254252017	0.27237	0.7573639160833922	0.75684	1.30456342951	0.83096	0.940853953362	0.99488	D	0.418831	0.77105	T	-0.0479031	0.44767	T	0.145184	0.79878	D	0.216803951891657	0.21303	T	0.969303	0.88939	D	0.79761565	0.83753	0.88094807	0.93628	0.79761565	0.83755	0.88094807	0.93629	-7.843	0.59995	D	.	.	0.684	0.72303	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.260622	0.88332	29.6	0.9950701685253367	0.68381	0.98061	0.79268	D	AEFBI	0.951058	0.96526	D	0.776564625914938	0.84621	8.339156	0.790289772766199	0.89109	9.842338	0.999999999999017	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	7.769000	0.84183	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.994	0.97380	431	0.80762	Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;.;.;.;.;.;.;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	911.33	35	chr3	141974061	.	C	T	911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.112;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.346;SOR=0.685	GT:AD:DP:GQ:PL	0/1:42,44:86:99:925,0,935	18	0	1	0
chr3	149767173	149767173	A	G	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon5:c.T1489C:p.C497R,ANKUB1:NM_001315505:exon5:c.T1051C:p.C351R,ANKUB1:NM_001315506:exon5:c.T1489C:p.C497R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	0.0117812	0.0056	0.0355	0.0056	0	0	0.0001	0	0.0005	0.0010867	168	154602	rs16862234	0.0009	0.0009	0.0011	0.0008	0.0346	0.0009	0.0009	0.0328	0.0321	0.0346	0.0014	0.0001	0	0	0.0032	5.886e-05	0.0022	0.0001	0.0097	0.0097	0.0100	0.0093	0.0336	0.0093	0.0091	0.0322	0.0316	0.0336	0	0.0031	0.0009	0	0	0	0.0002	0.0066	0	0.004	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999951	0.81001	D	.	.	.	1.39	0.33842	T	-3.4	0.67014	D	0.73	0.73105	-1.0863	0.06173	T	0.027	0.11529	T	9	0.006714225	0.00152	T	.	.	.	0.194	0.47447	.	.	0.523392987388	0.51985	0.3114380724980516	0.31056	.	.	0.523485541344	0.42117	T	.	.	.	-0.466864	0.00890	T	-0.417632	0.31348	T	0.0367121084652391	0.03105	T	0.59544	0.22079	T	0.79726297	0.83731	0.762415	0.85964	0.79726297	0.83733	0.762415	0.85964	-1.93	0.03250	T	.	.	0.688	0.72450	P	.;.	.;.	3.666968	0.52120	23.2	0.9949044448513249	0.67403	0.96168	0.67845	D	AEFBI	0.754703	0.69450	D	0.416690539321462	0.62339	4.448288	0.472506233112305	0.66174	4.917932	0.56386574764026	0.21436	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	4.206000	0.58271	8.919000	0.78393	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	13.980	0.63811	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004274	0.006250	0.010204	0.004630	0.000000	0.000000	0.000000	0.000000	0.02632	1050.33	33	chr3	149767173	.	A	G	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.145;DP=729;ExcessHet=0;FS=2.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.818;SOR=1.04	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1064,0,1072	18	0	1	0
chr3	150669424	150669424	A	-	exonic	ERICH6	.	frameshift deletion	ERICH6:NM_001308234:exon12:c.933delT:p.R312Efs*6,ERICH6:NM_152394:exon12:c.1371delT:p.R458Efs*6	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0006	9.61e-05	0.0007	0	0	0.0009	0.0011	0.0004	0.0003074	8	26028	rs758495871	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0007	0.0007	8.968e-05	0.0009	0.0016	2.522e-05	3.744e-05	0.0014	0.0007	0.0011	0.0005	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0002	0.0012	0	9.436e-05	0.0068	0.0007	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.005051	0.005435	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	2307.29	33	chr3	150669423	.	GA	G	2307.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=2.09;SOR=0.705	GT:AD:DP:GQ:PL	0/1:83,75:158:99:2321,0,2616	18	0	1	0
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	0/1:69,26:107:99:.:.:426,0,1874:.	8	0	10	1
chr3	186804706	186804706	G	A	exonic	RFC4	.	nonsynonymous SNV	RFC4:NM_002916:exon2:c.C8T:p.A3V,RFC4:NM_181573:exon2:c.C8T:p.A3V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0427719351424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	2.15	0.50459	T	-2.45	0.74051	N	0.73	0.73105	-0.3318	0.74081	T	0.328	0.69581	T	10	0.3876762	0.54661	T	0.042772	0.60640	D	0.233	0.53499	0.167	0.07186	0.664611728801	0.66179	0.479623303267401	0.47882	0.316716437892	0.33929	0.619127929211	0.55606	T	0.039146	0.42981	T	0.17514	0.71595	D	0.0138005	0.71228	D	0.983434200286865	0.75103	D	0.969103	0.88867	D	0.39475176	0.60367	0.38444328	0.63385	0.39475176	0.60368	0.38444328	0.63385	-10.315	0.75776	D	.	.	0.689	0.75132	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.330957	0.89461	30	0.99916232242530201	0.98449	0.98802	0.87042	D	AEFBI	0.712495	0.66560	D	0.794304985913698	0.85748	8.669676	0.7466839339386	0.85910	8.723277	0.999999999999463	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.32	5.32	0.75377	8.763000	0.91362	11.668000	0.94068	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.851	0.85860	856	0.34373	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1087.33	40	chr3	186804706	.	G	A	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.009;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.636;SOR=0.636	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1101,0,1355	18	0	1	0
chr3	193617246	193617246	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_015560:exon4:c.G517A:p.V173I,OPA1:NM_130834:exon4:c.G517A:p.V173I,OPA1:NM_130836:exon4:c.G517A:p.V173I,OPA1:NM_130837:exon4:c.G517A:p.V173I,OPA1:NM_001354664:exon5:c.G145A:p.V49I	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1179680	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	0.0282287598621	.	.	8.259e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs778997114	6.778e-05	6.841e-05	3.406e-05	0.0001	0.0011	5.674e-05	5.264e-05	0.0009	0.0008	0	0	0	0	0	0.0002	5.4e-06	0	0.0011	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.328	0.20683	T	0.51	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	0.236583	0.15804	N	0.637066	1	0.08975	N	0.55	0.14455	N	-3.11	0.92721	D	-0.39	0.25118	N	0.085	0.06854	-0.5389	0.67205	T	0.485	0.80345	T	10	0.0414702	0.02805	T	0.028229	0.50935	D	0.165	0.42395	0.24	0.17218	0.297458270211	0.29361	0.2512277634630935	0.25036	0.0788483161384	0.08873	0.269982248545	0.06138	T	0.137359	0.47026	T	-0.305413	0.08158	T	-0.296986	0.45041	T	0.0210772636565094	0.00809	T	0.836716	0.52772	T	0.022386769	0.00897	0.039858334	0.04177	0.022386769	0.00897	0.039858334	0.04176	-3.825	0.23038	T	0.10101912013938462	0.07518	0.078	0.10642	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.433729	0.31314	18.70	0.63932168953544311	0.07356	0.83901	0.42992	D	AEFBI	0.098833	0.19908	N	-0.431400994496139	0.24375	1.315699	-0.243650457174743	0.29990	1.684812	0.0980645289322579	0.16295	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	2.01	0.25568	2.557000	0.45533	0.577000	0.19666	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	1.000000	0.97212	0.3381:0.0:0.6619:0.0	10.382	0.43302	925	0.17918	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	967.33	33	chr3	193617246	.	G	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.147;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.928;SOR=0.738	GT:AD:DP:GQ:PL	0/1:57,44:101:99:981,0,1338	18	0	1	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	0/1:39,27:66:99:591,0,936	17	0	2	0
chr3	195519068	195519068	A	G	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.T443C:p.M148T,PPP1R2:NM_001291504:exon5:c.T524C:p.M175T,PPP1R2:NM_006241:exon5:c.T521C:p.M174T,PPP1R2:NM_001316325:exon6:c.T461C:p.M154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0133850550382	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs758930365	1.394e-06	2.741e-06	0	2.796e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.16793	T	1.0	0.01155	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.545	0.74286	M	.	.	.	-1.14	0.29323	N	0.675	0.68255	-0.3584	0.73310	T	0.406	0.75557	T	9	0.33047637	0.50285	T	0.013385	0.32738	T	0.225	0.52323	0.282	0.23801	0.63470690541	0.63171	0.316806076815987	0.31593	.	.	0.631590008736	0.57371	T	0.166075	0.51217	T	0.0330966	0.56136	T	-0.00808859	0.69810	D	0.4387147128582	0.30382	T	0.646635	0.25786	T	0.24516653	0.47472	0.21074143	0.45473	0.24516653	0.47472	0.21074143	0.45472	-3.2	0.12480	T	.	.	0.342	0.56051	A	.;.	.;.	3.000912	0.40094	21.1	0.87394221429255625	0.17196	0.98867	0.87911	D	AEFGBI	0.803324	0.72850	D	0.637927365369088	0.75590	6.33285	0.617386050681991	0.76201	6.447751	0.809762738365655	0.24334	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.412000	0.79304	11.032000	0.85074	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	13.590	0.61421	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	.	.	.	.	.	.	.	.	0.1111	150.95	78	chr3	195519068	.	A	G	150.95	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.591;DP=1462;ExcessHet=0.7564;FS=117.019;InbreedingCoeff=-0.1348;MLEAC=4;MLEAF=0.111;MQ=56.47;MQRankSum=-1.328;QD=0.37;ReadPosRankSum=0.956;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,21:110:36:0|1:195519068_A_G:36,0,2553:195519068	14	0	4	1
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:383,160:545:99:.:.:3870,0,15822:.	9	0	6	4
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|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,222:242:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9179,0,109:195779399	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,222:242:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:10020,791,126:195779399	11	6	1	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	0|1:1,19:242:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:10020,9227,9281:195779399	16	1	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,222:242:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:10002,768,99:195779399	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	5	7	1	6
chr3	195779676	195779676	A	0	exonic	MUC4	.	.	.	.	468	870	11	10	163	194	0.0175042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	2274.57	157	chr3	195779676	.	A	*	2274.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-0.398;DP=2996;ExcessHet=0;FS=1.264;InbreedingCoeff=0.8688;MLEAC=11;MLEAF=0.344;MQ=54.34;MQRankSum=1.62;QD=1.98;ReadPosRankSum=2.7;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	11	5	0	3
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:24,324:348:94:1|1:195779564_T_G:12996,94,0:195779564	8	6	1	4
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:13,259:275:99:1|1:195779854_TCGG_*:11000,474,0:195779854	5	6	2	6
chr3	195780062	195780062	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	4631.74	396	chr3	195780062	.	G	*	4631.74	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=5;MLEAF=0.147;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:456,204:660:99:.:.:7093,0,18301:.	13	1	3	2
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	0/1:571,53:647:99:.:.:485,0,23769:.	8	0	4	7
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:5,269:554:99:.:.:18590,8076,10437:.	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:280,269:555:99:.:.:9885,0,11106:.	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,269:516:99:.:.:10049,0,9117:.	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:233,146:379:99:.:.:2894,0,9318:.	7	1	10	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:135,150:551:99:.:.:10476,4023,17720:.	7	0	6	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2111.23	845	chr3	195782572	.	A	*	2111.23	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.65;DP=9235;ExcessHet=2.2993;FS=0;InbreedingCoeff=-0.2677;MLEAC=7;MLEAF=0.35;MQ=54.73;MQRankSum=-9.794;QD=0.84;ReadPosRankSum=-2.64;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:427,150:577:99:0|1:195782557_G_*:3742,0,23267:195782557	5	0	5	9
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:203,150:353:99:3780,0,20826	6	0	6	7
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	0/1:508,150:671:99:4927,0,26381	6	0	5	8
chr3	195783311	195783311	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8269A:p.D2757N	.	425	1077	4	1	15	21	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0019	0.0169	0	0.0064	0	0.0002	0	0.0006	0.0002652	41	154602	rs58408822	0.0006	0.0016	0.0006	0.0007	0.0023	0.0006	0.0006	0.0019	0.0017	0.0023	0.0023	0.0008	0.0017	0.0005	0.0003	0.0004	0.0009	0.0020	0.0022	0.0059	0.0021	0.0023	0.0049	0.0019	0.0018	0.0042	0.0039	0.0049	0	0.0021	0.0009	0.0015	0.0027	0	0.0009	0	0.0030	0.087	0.43708	T	0.353	0.17425	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.31470	T	-0.3	0.11913	N	0.028	0.01825	-0.9984	0.30367	T	0.029	0.12365	T	8	0.004288763	0.00086	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	1.3812347566698146E-5	0.00001	.	.	0.574782729149	0.49352	T	.	.	.	-0.420389	0.01700	T	-0.841636	0.01074	T	0.00881340839730039	0.00109	T	0.889511	0.62170	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	1.280743	0.16803	12.77	0.93219075986132272	0.22895	0.00023	0.00238	N	AEFBI	0.039733	0.05813	N	-1.42363924912042	0.02432	0.1073949	-1.51431325299676	0.02234	0.1024184	1.42165787645841E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.589	0.11097	-1.570000	0.02244	-4.000000	0.02402	0.120000	0.17638	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4705:0.0:0.5295	4.148	0.09692	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	0.004202	0.000000	0.007752	0.000000	0.000000	0.000000	0.003846	0.000000	0.02941	659.14	369	chr3	195783311	.	C	T	659.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.814;DP=3461;ExcessHet=0;FS=10.133;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=56.63;MQRankSum=-5.633;QD=2.76;ReadPosRankSum=10.85;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,61:239:99:0|1:195783311_C_T:672,0,4566:195783311	16	0	1	2
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,13:28:99:.:.:522,0,138:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,13:23:99:0|1:195787238_C_*:788,250,297:195787238	10	0	6	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:23:99:0|1:195787238_C_*:904,371,381:195787238	7	0	7	5
chr4	1056973	1056973	G	T	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001366919:exon11:c.C679A:p.P227T	Recombination rate QTL 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.04167	31.62	.	chr4	1056973	.	G	T	31.62	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.967;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=-0.1329;MLEAC=2;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	11	0	1	7
chr4	1717655	1717655	C	T	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.G701A:p.G234E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0656470328297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942386527	1.303e-05	1.231e-05	1.283e-05	1.324e-05	2.98e-05	8.14e-06	6.72e-06	9.68e-06	7.91e-06	0	2.98e-05	0	0	0	0	1.589e-05	0	0	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.113	0.28772	T	0.608	0.07741	T	0.801	0.45051	P	0.265	0.39681	B	0.000216	0.47681	D	0.139249	0.997396	0.81001	D	2.19	0.61577	M	1.0	0.41392	T	-0.51	0.15986	N	0.49	0.52386	-0.8626	0.51075	T	0.131	0.44208	T	10	0.44251996	0.58191	T	0.065647	0.69640	D	0.131	0.35738	0.458	0.52427	0.36076525451	0.35686	0.41346507788222314	0.41262	0.584892128571	0.54152	0.493111312389	0.37870	T	0.009162	0.08356	T	-0.203778	0.20262	T	-0.351418	0.39042	T	0.139637992582753	0.16244	T	0.886311	0.61284	D	0.18573663	0.39950	0.18292524	0.41250	0.18573663	0.39950	0.18292524	0.41249	-4.359	0.28996	T	.	.	0.211	0.43989	B	.;.	.;.	3.319078	0.45644	22.2	0.98540508342114608	0.42707	0.97167	0.73084	D	AEFDBCI	0.712356	0.66551	D	0.0699040881498186	0.45062	2.769195	0.00959743339890889	0.40159	2.39229	0.999999999354753	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.69	4.69	0.58546	4.564000	0.60546	7.469000	0.59132	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:1.0:0.0:0.0	17.621	0.87984	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	711.33	39	chr4	1717655	.	C	T	711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.086;DP=749;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.107;SOR=0.906	GT:AD:DP:GQ:PL	0/1:44,29:73:99:725,0,1185	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,29:55:99:1|0:3074876_CCAGCAGCAG_C:1040,0,928:3074876	14	0	5	0
chr4	3148202	3148202	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon26:c.A3493G:p.I1165V	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1361049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00248378478519	.	.	6.776e-05	0	0.0009	0	0	0	0	0.0002	1.94e-05	3	154602	rs377592444	7.771e-06	7.525e-06	2.795e-06	1.286e-05	0.0001	4.17e-06	3.05e-06	5.307e-05	3.464e-05	3.093e-05	0.0001	0	0	0	0	3.679e-06	0	1.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.193094	0.16794	N	0.629414	1	0.08975	N	-0.49	0.02651	N	3.67	0.04188	T	0.19	0.04947	N	0.012	0.00125	-0.9186	0.45743	T	0.005	0.01578	T	10	0.018193334	0.00394	T	0.002484	0.04925	T	0.049	0.13647	0.206	0.12216	0.491561328709	0.48789	0.07499880260855342	0.07435	0.314917620909	0.33772	0.286527991295	0.08419	T	0.094459	0.39420	T	-0.404632	0.02158	T	-0.559323	0.16440	T	0.0111471282347681	0.00163	T	0.784022	0.42156	T	0.01987721	0.00529	0.03151601	0.01751	0.01987721	0.00529	0.03151601	0.01751	-2.094	0.03558	T	0.12949301840350613	0.13529	0.051	0.00168	B	.	.	-0.153720	0.03334	0.585	0.25140628988623964	0.01145	0.04528	0.10159	N	AEFDBI	0.049876	0.08662	N	-1.30060746053853	0.03669	0.1643073	-1.26956320639259	0.04848	0.2296623	0.206181325226382	0.18184	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	-3.35	0.04620	0.533000	0.22791	-0.055000	0.12496	0.756000	0.94297	0.015000	0.19116	0.000000	0.08366	0.939000	0.47918	0.2955:0.1288:0.5758:0.0	9.334	0.37202	444	0.79803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1231.33	33	chr4	3148202	.	A	G	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-1.145;SOR=0.711	GT:AD:DP:GQ:PL	0/1:83,56:139:99:1245,0,2026	18	0	1	0
chr4	3493445	3493445	G	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.G529C:p.A177P,DOK7:NM_001363811:exon5:c.G1027C:p.A343P,DOK7:NM_001301071:exon7:c.G1459C:p.A487P,DOK7:NM_173660:exon7:c.G1459C:p.A487P	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1025838	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.173205288624	.	.	6.639e-05	0	0.0007	0	0	0	0	0	3.88e-05	6	154602	rs751342277	1.099e-05	1.094e-05	8.195e-06	1.381e-05	0.0004	6.5e-06	5.26e-06	0.0002	0.0002	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.035	0.52389	D	0.99	0.63424	D	0.676	0.53321	P	0.000440	0.44522	D	0.149388	0.98465	0.40175	D	2.19	0.61577	M	-0.41	0.69413	T	-2.72	0.57920	D	0.568	0.59138	-0.4539	0.70271	T	0.480	0.80119	T	10	0.2835588	0.45936	T	0.173205	0.84996	D	0.329	0.65126	0.26	0.20315	0.799870223113	0.79800	0.24083441947777318	0.23997	0.0174109686577	0.01692	0.711790919304	0.68852	T	0.200739	0.55841	T	-0.138329	0.30157	T	-0.12032	0.61776	T	0.383600733607121	0.28321	T	0.714629	0.32694	T	0.54212236	0.69515	0.6482813	0.79428	0.54212236	0.69516	0.6482813	0.79429	-3.454	0.15794	T	0.2362494818236721	0.31991	0.090	0.29367	B	.;.;.	.;.;.	3.185398	0.43259	21.7	0.99589387475076718	0.73513	0.72064	0.35288	D	AEFBCI	0.507233	0.53762	D	0.126190284249033	0.47687	2.990951	-0.0618886936192328	0.36980	2.15918	0.999989664642011	0.51787	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.77	2.92	0.32998	3.554000	0.53466	3.514000	0.38858	0.672000	0.70159	0.978000	0.35038	0.999000	0.35428	0.241000	0.23027	0.0958:0.0:0.9042:0.0	10.512	0.44053	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	952.33	34	chr4	3493445	.	G	C	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.295;DP=854;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.2;SOR=0.75	GT:AD:DP:GQ:PL	0/1:51,44:95:99:966,0,1348	18	0	1	0
chr4	5990219	5990219	C	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.G1290T:p.E430D,C4orf50:NM_001364689:exon6:c.G1827T:p.E609D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066743076	0.09198	T	.	.	.	.	.	.	.	.	.	0.0075647184224189356	0.00722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305369	0.05850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31253	B	.	.	-0.662200	0.01411	0.083	0.51804336685629382	0.04630	0.00789	0.03228	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00586650566264912	0.11064	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0559266	0.13110	2.74	-5.31	0.02519	-1.493000	0.02403	-0.752000	0.07573	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1642:0.2509:0.1539:0.431	0.897	0.01185	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	.	.	.	.	.	.	.	.	0.03571	31.54	.	chr4	5990219	.	C	A	31.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=-0.1219;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	13	0	1	5
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	0/1:95,40:135:99:321,0,1898	1	0	18	0
chr4	7809739	7809739	G	A	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon8:c.C929T:p.S310L,AFAP1:NM_001134647:exon9:c.C929T:p.S310L,AFAP1:NM_198595:exon9:c.C929T:p.S310L,AFAP1:NM_001371091:exon10:c.C929T:p.S310L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00482950969632	0.0002	0.000599042	0.0006	9.615e-05	0.0004	0	0	0.0006	0.0011	0.0013	0.0005045	78	154602	rs141660816	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0011	0.0008	0.0001	0.0004	0.0051	0	0	0.0019	0.0002	0.0007	0.0009	0.0003	0.0003	0.0002	0.0005	0.0008	0.0003	0.0002	0.0003	0.0002	7.236e-05	0	0.0004	0.0058	0	0	0.0034	0.0002	0.0014	0.0008	0.013	0.53900	D	0.047	0.58613	D	0.078	0.24389	B	0.021	0.19346	B	0.024207	0.26302	N	0.399291	1	0.08975	N	1.79	0.46772	L	2.46	0.15145	T	-2.38	0.52451	N	0.306	0.34981	-1.0373	0.18140	T	0.035	0.15247	T	10	0.008170545	0.00185	T	0.00483	0.12098	T	0.063	0.18251	.	.	0.21737058555	0.21362	0.27370359274996897	0.27283	0.0825246582377	0.09310	0.554070711136	0.46431	T	0.032407	0.22475	T	-0.471322	0.00834	T	-0.49535	0.22832	T	0.0516884270426793	0.05795	T	0.815518	0.64583	T	0.112464376	0.26568	0.12084816	0.29160	0.112464376	0.26568	0.12084816	0.29160	-9.057	0.68063	D	.	.	0.075	0.16275	B	.;.;.;.;.	.;.;.;.;.	2.935632	0.39014	20.9	0.99484952441595043	0.67124	0.90816	0.52314	D	AEFBI	0.566726	0.57259	D	-0.228287654752389	0.31978	1.798569	-0.186801509582916	0.32020	1.817683	0.99999984633172	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.15	4.28	0.50183	5.875000	0.69407	4.251000	0.42758	0.676000	0.76740	0.965000	0.33920	0.875000	0.27637	0.314000	0.24830	0.0762:0.1463:0.7775:0.0	9.321	0.37124	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	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1098.33	34	chr4	7809739	.	G	A	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.573;SOR=0.711	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1112,0,1586	18	0	1	0
chr4	9235270	9235270	C	A	exonic	USP17L15	.	nonsynonymous SNV	USP17L15:NM_001256894:exon1:c.C886A:p.Q296K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755279052	0	9.401e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.13617	N	1.59	0.28836	T	0.69	0.02195	N	0.057	0.02861	-0.9597	0.39236	T	0.029	0.12234	T	5	0.2745545	0.45009	T	.	.	.	0.034	0.08419	0.414	0.45216	0.0806252709748	0.07271	0.007684030665009038	0.00734	.	.	0.57069849968	0.48776	T	7.28E-4	0.00333	T	-0.502895	0.00551	T	-0.69085	0.06340	T	0.0568557002919151	0.06664	T	0.460954	0.13351	T	0.24719815	0.47696	0.12283662	0.29627	0.24719815	0.47696	0.12283662	0.29626	-3.801	0.20820	T	.	.	0.090	0.12750	B	.;.	.;.	0.963192	0.13398	9.904	0.6170497815334588	0.06776	0.01252	0.04404	N	AEFI	0.026282	0.01945	N	-0.900404539463813	0.10833	0.5196488	-1.00470466867239	0.09681	0.4830779	1.11923775849212E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	0.36	0.15332	0.889000	0.27917	.	.	0.266000	0.18458	0.996000	0.39380	0.001000	0.17328	0.028000	0.12845	.	.	.	.	.	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	41.66	.	chr4	9235270	.	C	A	41.66	.	AC=2;AF=0.2;AN=10;DP=153;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=36;QD=20.83;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	14
chr4	20704813	20704813	C	T	exonic	PACRGL	.	nonsynonymous SNV	PACRGL:NM_001130727:exon3:c.C206T:p.P69L,PACRGL:NM_001258345:exon3:c.C206T:p.P69L,PACRGL:NM_001258346:exon3:c.C206T:p.P69L,PACRGL:NM_001317849:exon3:c.C206T:p.P69L,PACRGL:NM_001330745:exon3:c.C206T:p.P69L,PACRGL:NM_001330746:exon3:c.C206T:p.P69L,PACRGL:NM_001330747:exon3:c.C206T:p.P69L,PACRGL:NM_001330748:exon3:c.C206T:p.P69L,PACRGL:NM_145048:exon3:c.C206T:p.P69L	.	.	.	.	.	.	.	.	0.9900	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0137812461709	.	.	3.311e-05	0	8.655e-05	0.0001	0	3.01e-05	0	0	2.59e-05	4	154602	rs766516716	3.421e-05	3.42e-05	2.587e-05	4.264e-05	0.0002	2.632e-05	2.375e-05	6.513e-05	4.45e-05	0	0	0	0.0002	0	0	3.688e-05	1.656e-05	2.319e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.051	0.91255	T	0.0	0.92824	D	0.995	0.90584	D	0.853	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	.	.	.	-7.46	0.98804	D	0.801	0.96758	-0.4452	0.70559	T	0.420	0.76550	T	9	0.42961374	0.64080	T	0.013781	0.33440	T	0.436	0.74093	0.342	0.33464	0.124217242631	0.12060	0.5564353792968416	0.55570	0.341218850059	0.36058	0.569433271885	0.48598	T	0.124718	0.68563	T	0.0933778	0.63567	D	0.122056	0.78372	D	0.754737377166748	0.43551	D	0.952605	0.82399	D	0.43166006	0.62861	0.2956901	0.55601	0.43166006	0.62861	0.2956901	0.55600	-4.576	0.31869	T	.	.	0.621	0.84278	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.917816	0.94056	33	0.99873290919498181	0.95076	0.98877	0.88048	D	AEFBI	0.703473	0.65950	D	0.683025987120318	0.78520	6.88832	0.679406034240451	0.80818	7.384154	0.999999999291922	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.200000	0.72046	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.881	0.96894	716	0.55970	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1208.33	33	chr4	20704813	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.999;DP=764;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.619;SOR=0.595	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1222,0,1490	18	0	1	0
chr4	36290484	36290484	T	-	exonic	DTHD1	.	stopgain	DTHD1:NM_001136536:exon2:c.129delT:p.L44*,DTHD1:NM_001378435:exon2:c.129delT:p.L44*,DTHD1:NM_001170700:exon3:c.999delT:p.L334*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4066.29	44	chr4	36290483	.	CT	C	4066.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=1047;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.62;SOR=0.846	GT:AD:DP:GQ:PL	0/1:141,139:280:99:4080,0,4164	18	0	1	0
chr4	39086540	39086540	A	G	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon4:c.A743G:p.N248S,KLHL5:NM_001171654:exon5:c.A503G:p.N168S,KLHL5:NM_015990:exon5:c.A926G:p.N309S,KLHL5:NM_001007075:exon6:c.A926G:p.N309S	.	436	1085	1	0	0	1	0.000460617	.	.	.	3700838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0178136413118	.	.	8.268e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs774243780	1.916e-05	1.915e-05	2.178e-05	1.65e-05	2.428e-05	1.329e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	1.656e-05	0	1.314e-05	1.313e-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	0.29	0.18246	T	0.334	0.18340	T	0.685	0.41537	P	0.491	0.47504	P	0.000030	0.55875	D	0.191144	0.999865	0.50061	D	0.51	0.13489	N	-0.21	0.66294	T	-3.2	0.65627	D	0.151	0.22998	-0.7877	0.55863	T	0.200	0.55569	T	10	0.20005426	0.36037	T	0.017814	0.39652	T	0.192	0.47115	0.449	0.50957	0.713116748558	0.71060	0.14087666350309283	0.14010	0.306033625697	0.32903	0.693222522736	0.66169	T	0.379095	0.74192	T	-0.179355	0.23830	T	-0.495408	0.22825	T	0.408484250307083	0.29261	T	0.954405	0.83071	D	0.1556662	0.35171	0.21534827	0.46121	0.1556662	0.35171	0.21534827	0.46120	-6.489	0.52238	T	.	.	0.225	0.59228	B	.;.;.;.;.	.;.;.;.;.	4.143582	0.62103	24.4	0.99816791283975437	0.89973	0.90497	0.51722	D	AEFDBI	0.527567	0.54945	D	0.139638834204641	0.48322	3.045905	0.298837136175856	0.55472	3.710176	0.999999892528735	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	5.181000	0.64892	11.259000	0.91010	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.972	0.79822	501	0.75956	.;.;BTB/Kelch-associated|BTB/Kelch-associated;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1103.33	34	chr4	39086540	.	A	G	1103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=715;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.604;SOR=1.109	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1117,0,1070	18	0	1	0
chr4	41650399	41650399	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon7:c.G1174A:p.G392R,LIMCH1:NM_001330674:exon7:c.G1174A:p.G392R,LIMCH1:NM_001112719:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330793:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330982:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330983:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330786:exon10:c.G1195A:p.G399R,LIMCH1:NM_001289122:exon12:c.G1636A:p.G546R,LIMCH1:NM_001289124:exon12:c.G1159A:p.G387R,LIMCH1:NM_001330791:exon12:c.G1636A:p.G546R,LIMCH1:NM_001330792:exon12:c.G1636A:p.G546R,LIMCH1:NM_001112717:exon13:c.G1672A:p.G558R,LIMCH1:NM_001112718:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330784:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330787:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330788:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330789:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330790:exon13:c.G1672A:p.G558R,LIMCH1:NM_014988:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330672:exon18:c.G2827A:p.G943R	.	422	1098	1	1	0	3	0.00136426	.	.	.	3276871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0391547587976	.	.	0.0001	0	0	0	0	1.515e-05	0	0.0007	7.76e-05	12	154602	rs751602376	7.87e-05	7.935e-05	4.494e-05	0.0001	0.0010	6.669e-05	6.203e-05	0.0007	0.0006	2.988e-05	0	0	2.519e-05	3.747e-05	0.0010	2.609e-05	4.969e-05	0.0008	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.78490	D	0.028	0.63109	D	0.997	0.90584	D	0.897	0.97372	P	0.000001	0.84330	D	0.056326	0.999995	0.58761	D	1.975	0.53506	M	0.49	0.56609	T	-3.27	0.67589	D	0.547	0.75101	-0.4540	0.70268	T	0.339	0.70510	T	10	0.17807707	0.32875	T	0.039155	0.58646	D	0.200	0.48430	0.187	0.09646	0.198222871337	0.19423	0.45358175379797555	0.45276	0.671166192088	0.59450	0.623985290527	0.56292	T	0.076044	0.45289	T	-0.30827	0.07901	T	-0.288389	0.45940	T	0.543435394763947	0.34232	D	0.976902	0.91973	D	0.5041879	0.67340	0.63846034	0.78885	0.5041879	0.67341	0.63846034	0.78885	-12.349	0.89168	D	.	.	0.387	0.64090	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.564664	0.71961	25.8	0.99934746786061857	0.99535	0.99105	0.91299	D	AEFBI	0.842980	0.76004	D	0.740864468224553	0.82308	7.730865	0.759247443481654	0.86847	9.022111	0.999999999989784	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.93	5.93	0.95888	5.536000	0.66891	8.443000	0.77200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.354	0.98826	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	543.33	33	chr4	41650399	.	G	A	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=669;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.988;SOR=0.299	GT:AD:DP:GQ:PL	0/1:27,21:48:99:557,0,647	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	0/1:105,26:131:20:20,0,2139	14	0	5	0
chr4	69005071	69005071	G	A	exonic	UGT2B10	.	stopgain	UGT2B10:NM_001290091:exon7:c.C628T:p.R210X	.	6	1498	17	1	0	19	0.00630182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	9.615e-05	0.0012	0.0001	0	0.0011	0.0011	0.0048	0.0011578	179	154602	rs149826760	0.0009	0.0009	0.0007	0.0011	0.0047	0.0009	0.0008	0.0043	0.0042	0.0002	0.0010	0.0049	2.521e-05	7.489e-05	0.0031	0.0006	0.0013	0.0047	0.0007	0.0007	0.0006	0.0009	0.0033	0.0006	0.0006	0.0021	0.0017	0.0002	0	0.0009	0.0046	0	9.436e-05	0	0.0007	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3882.33	44	chr4	69005071	.	G	A	3882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=1049;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.954;QD=12.86;ReadPosRankSum=-0.491;SOR=0.778	GT:AD:DP:GQ:PL	0/1:145,157:302:99:3896,0,3413	18	0	1	0
chr4	70158736	70158736	G	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1587.43	53	chr4	70158736	.	G	*	1587.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=959;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.312;SOR=0.666	GT:AD:DP:GQ:PL	0/1:64,30:94:99:1028,0,2522	18	0	1	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.05263	5937.83	33	chr4	72283389	.	C	T	5937.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1091;ExcessHet=0.119;FS=1.741;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.989;SOR=0.677	GT:AD:DP:GQ:PL	0/1:105,128:233:99:3262,0,2655	17	0	2	0
chr4	75527023	75527023	G	A	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon4:c.G352A:p.G118S,THAP6:NM_144721:exon5:c.G478A:p.G160S	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0221904889978	0.0048	0.00119808	0.0028	0.0011	0.0004	0	0.0026	0.0042	0.0022	0.0010	0.0031306	484	154602	rs141771853	0.0052	0.0052	0.0053	0.0051	0.0063	0.0051	0.0050	0.0062	0.0061	0.0006	0.0008	0.0002	0.0001	0.0023	0.0005	0.0063	0.0043	0.0010	0.0030	0.0030	0.0032	0.0027	0.0052	0.0027	0.0026	0.0048	0.0046	0.0010	0	0.0014	0	0.0002	0.0022	0	0.0052	0.0028	0.0008	0.749	0.03598	T	0.814	0.04247	T	0.0	0.02946	B	0.0	0.01387	B	0.869079	0.08838	N	0.939139	1	0.81001	D	-0.895	0.01383	N	-4.24	0.97030	D	0.76	0.01978	N	0.05	0.09066	-0.2038	0.77572	T	0.586	0.85131	D	10	0.004345596	0.00088	T	0.02219	0.45053	T	0.154	0.40340	.	.	0.427940940899	0.42412	0.08407438253504529	0.08341	0.187286491638	0.21046	0.298370063305	0.10158	T	0.002606	0.01994	T	-0.38134	0.03056	T	-0.313011	0.43334	T	0.00318038637706738	0.00033	T	0.548145	0.18826	T	0.03315369	0.03479	0.046231773	0.06399	0.03315369	0.03479	0.046231773	0.06398	-1.624	0.02309	T	.	.	0.057	0.00636	B	.;.;.	.;.;.	1.352042	0.17601	13.26	0.83716021772618321	0.14879	0.13038	0.17627	N	AEFBI	0.056709	0.10505	N	-0.77160241975018	0.14053	0.6969947	-0.579596429712828	0.20025	1.077084	0.646619816437754	0.22113	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.46	1.83	0.24279	1.852000	0.38988	3.962000	0.40756	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.7074:0.1923:0.1003:0.0	4.678	0.12104	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1772.33	33	chr4	75527023	.	G	A	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.559;SOR=0.752	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1786,0,1043	18	0	1	0
chr4	75564323	75564323	T	C	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_178497:exon2:c.T277C:p.S93P	.	9	1495	18	0	0	18	0.00598404	.	.	.	709460	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.023	.	0.0091	0.00299521	0.0062	0.0012	0.0027	0.0002	0.0071	0.0090	0.0066	0.0035	0.0064488	997	154602	rs140756390	0.0092	0.0092	0.0094	0.0090	0.0107	0.0091	0.0090	0.0105	0.0105	0.0013	0.0044	0.0060	2.519e-05	0.0061	0.0045	0.0107	0.0079	0.0034	0.0067	0.0067	0.0069	0.0066	0.0102	0.0064	0.0062	0.0096	0.0094	0.0015	0.0011	0.0088	0.0040	0.0002	0.0075	0.0068	0.0102	0.0090	0.0029	0.978	0.02017	T	0.687	0.05976	T	0.0	0.02946	B	0.0	0.01387	B	0.244876	0.15633	N	0.530450	1	0.08975	N	.	.	.	1.54	0.30133	T	2.5	0.00234	N	0.062	0.03392	-1.0065	0.28004	T	0.023	0.09741	T	9	0.0036925077	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	3.92E-4	0.00124	T	-0.496481	0.00598	T	-0.47426	0.25058	T	0.000306451671654251	0.00002	T	0.251175	0.03802	T	0.05880656	0.11876	0.094854295	0.22470	0.061065245	0.12601	0.094854295	0.22469	-2.003	0.03192	T	0.029427085984377505	0.00071	0.059	0.00834	B	.	.	1.256510	0.16537	12.60	0.90067394681347235	0.19352	0.00037	0.00318	N	AEFI	0.009759	0.00060	N	-1.11947166504721	0.06297	0.2895017	-1.09129166011743	0.07871	0.3846185	0.0118062988804829	0.12238	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.27	2.51	0.29435	1.239000	0.32322	0.844000	0.22071	-0.201000	0.08892	0.016000	0.19238	0.000000	0.08366	0.222000	0.22517	0.0:0.762:0.0:0.238	6.291	0.20269	938	0.14419	.	NUP54	Thyroid	.	.	.	Likely benign	0	0	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	0.009567	0.010101	0.005435	0.005848	0.000000	0.008621	0.024390	0.007576	0.02632	2365.33	33	chr4	75564323	.	T	C	2365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=1021;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.354;SOR=0.595	GT:AD:DP:GQ:PL	0/1:85,92:177:99:2379,0,2048	18	0	1	0
chr4	78870983	78870988	CAGCAG	-	exonic	BMP2K	.	nonframeshift deletion	BMP2K:NM_017593:exon11:c.1432_1437del:p.Q485_Q486del,BMP2K:NM_198892:exon11:c.1432_1437del:p.Q485_Q486del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0001	0.0001	0.0002	3.397e-05	0	0.0008	0.0001294	20	154602	rs763960588	6.708e-05	8.28e-05	4.405e-05	9.033e-05	0.0005	5.622e-05	5.208e-05	0.0004	0.0004	6.082e-05	9.038e-05	0	0.0002	2.01e-05	0.0002	2.539e-05	0.0001	0.0005	7.95e-05	7.908e-05	7.76e-05	8.15e-05	0.0003	4.531e-05	3.539e-05	8.938e-05	5.427e-05	7.311e-05	0	0.0003	0	0	0	0	5.914e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3082.78	37	chr4	78870982	.	ACAGCAG	A	3082.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=803;ExcessHet=0.119;FS=1.892;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=1.07;SOR=0.889	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1823,0,1444	18	0	1	0
chr4	84497814	84497814	-	GGCAGAGGCGGAGGA	exonic	NKX6-1	.	nonframeshift insertion	NKX6-1:NM_006168:exon1:c.414_415insTCCTCCGCCTCTGCC:p.A138_A139insSSASA	.	303	1209	10	0	0	10	0.00411862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	0.0001537	4	26028	rs778404331	0.0023	0.0020	0.0023	0.0023	0.0052	0.0023	0.0022	0.0033	0.0027	0.0005	0.0021	0.0004	0.0002	0.0003	0.0052	0.0026	0.0022	0.0009	0.0019	0.0019	0.0018	0.0021	0.0033	0.0018	0.0017	0.0027	0.0025	0.0005	0.0011	0.0033	0	0.0002	0.0002	0.0068	0.0030	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	109.3	16	chr4	84497814	.	C	CGGCAGAGGCGGAGGA	109.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=416;ExcessHet=0;FS=2.754;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-1.201;SOR=2.133	GT:AD:DP:GQ:PL	0/1:15,4:19:99:123,0,606	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|1:1,7:16:99:0|1:87615730_ATAG_A:1448,327,312:87615730	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|1:1,8:16:48:1|1:87615730_ATAG_A:1182,48,0:87615730	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|1:1,7:16:99:0|1:87615730_ATAG_A:1440,319,303:87615730	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|1:1,7:16:16:1|1:87615730_ATAG_A:1137,16,0:87615730	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|1:1,7:16:16:1|1:87615730_ATAG_A:1137,16,0:87615730	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	0/1:10,8:18:99:.:.:300,0,434:.	2	2	9	6
chr4	89953026	89953026	C	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.C3295T:p.P1099S,MMRN1:NM_001371403:exon9:c.C3295T:p.P1099S	.	434	1087	1	0	0	1	0.00045977	.	.	.	2215826	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.665	0.096538348438	0.0005	0.000199681	0.0003	0.0002	0.0002	0	0	0.0004	0.0022	0.0001	0.0002199	34	154602	rs140432017	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0007	0.0002	0	0	0	0.0014	0.0002	0.0003	0.0001	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0005	0	0	0	0	0.0005	0	0	0.027	0.46513	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	0.998132	0.44547	D	1.075	0.27130	L	-2.09	0.86077	D	-2.88	0.60507	D	0.718	0.78356	0.468	0.90092	D	0.694	0.89434	D	10	0.5907474	0.66366	D	0.096538	0.76619	D	0.665	0.87527	.	.	0.852445257037	0.85102	0.566444015663395	0.56572	0.0866157738775	0.09775	0.649027526379	0.59848	T	0.416751	0.76961	T	0.0858557	0.62719	D	0.239583	0.85129	D	0.233106791973114	0.22098	T	0.875712	0.60466	D	0.20088363	0.42079	0.21790263	0.46473	0.20088363	0.42079	0.21790263	0.46472	-5.498	0.41849	T	.	.	0.734	0.78984	P	.;.;.	.;.;.	4.502317	0.70423	25.5	0.99886575362897834	0.96126	0.93341	0.57958	D	AEFBI	0.695327	0.65403	D	0.498575977612803	0.67005	5.024498	0.479284324872278	0.66620	4.975715	0.998030571071781	0.36340	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.038000	0.63972	7.072000	0.57443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.754	0.85354	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q 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	0.002014	0.005051	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	450.33	35	chr4	89953026	.	C	T	450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.927;DP=704;ExcessHet=0;FS=2.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.357;SOR=1.038	GT:AD:DP:GQ:PL	0/1:41,21:62:99:464,0,1171	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:104,37:141:73:73,0,1536	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,35:106:99:.:.:104,0,974:.	2	0	17	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:117,31:148:35:35,0,2230	5	0	12	2
chr4	125320714	125320714	A	G	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.A4303G:p.I1435V,FAT4:NM_001291303:exon2:c.A4303G:p.I1435V,FAT4:NM_024582:exon2:c.A4303G:p.I1435V	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	367880	Inborn_genetic_diseases|not_provided|FAT4-related_disorder|not_specified|Hennekam_lymphangiectasia-lymphedema_syndrome_2	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00272486760401	0.0030	0.00139776	0.0030	0.0011	0.0010	0	0.0011	0.0046	0	0.0017	0.0032535	503	154602	rs142747281	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0045	0.0055	0.0054	0.0008	0.0011	3.826e-05	2.519e-05	0.0014	0.0003	0.0056	0.0041	0.0013	0.0028	0.0028	0.0029	0.0026	0.0051	0.0025	0.0025	0.0046	0.0044	0.0013	0	0.0008	0	0	0.0003	0	0.0051	0.0014	0.0008	0.906	0.02389	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.338049	0.14007	U	0.513902	0.999501	0.21084	N	0.295	0.10161	N	0.78	0.49358	T	-0.17	0.09627	N	0.048	0.01999	-0.9952	0.31245	T	0.027	0.11441	T	10	0.009860128	0.00221	T	0.002725	0.05608	T	0.056	0.15993	.	.	0.0934897674506	0.08844	0.11840225263276702	0.11767	0.124959684129	0.14079	0.276730149984	0.07041	T	0.037834	0.24623	T	-0.616853	0.00115	T	-0.657339	0.08447	T	0.000622526541661505	0.00006	T	0.607039	0.22875	T	0.032078367	0.03165	0.027190184	0.00854	0.032078367	0.03164	0.027190184	0.00854	-3.408	0.15164	T	.	.	0.050	0.00148	B	.	.	0.775617	0.11457	8.062	0.72408882413369469	0.09963	0.68532	0.33838	D	AEFBI	0.092293	0.18687	N	-0.782763694918517	0.13759	0.6801785	-0.57380985926541	0.20176	1.085897	0.999637151808259	0.41205	0.722319	0.85440	0	0.624306	0.53593	0	0.577349	0.28860	0	0.735409	0.98432	0	.	.	4.87	1.06	0.19341	0.937000	0.28549	0.684000	0.20706	0.756000	0.94297	0.980000	0.35271	0.363000	0.24530	0.994000	0.71098	0.5259:0.1652:0.3089:0.0	4.823	0.12768	932	0.16191	Cadherin-like	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2076.33	156	chr4	125320714	.	A	G	2076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=2765;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.57;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,89:186:99:0|1:125320714_A_G:2090,0,3784:125320714	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	0/1:44,15:59:78:78,0,800	9	0	6	4
chr4	140373679	140373679	C	T	exonic	SCOC	.	nonsynonymous SNV	SCOC:NM_001153663:exon1:c.C143T:p.S48L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0134189218132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332241568	3.575e-06	4.104e-06	1.411e-06	5.799e-06	4.634e-06	1.05e-06	7.6e-07	1.36e-06	9.9e-07	0	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.74150	D	0.979	0.59044	D	0.559	0.49531	P	0.260287	0.03704	N	1.549330	1	0.81001	D	1.04	0.26193	L	.	.	.	-2.02	0.46503	N	0.239	0.31253	-0.9337	0.43590	T	0.169	0.50987	T	9	0.14923108	0.28247	T	0.013419	0.32810	T	0.116	0.32463	0.225	0.14960	0.0806252709748	0.07271	0.2534142870020742	0.25255	1.12619037712	0.78463	.	.	.	0.014655	0.12435	T	-0.0430473	0.45494	T	-0.284125	0.46379	T	0.808188259601593	0.46919	D	0.657934	0.26930	T	0.16417074	0.36607	0.2771591	0.53666	0.16417074	0.36606	0.2771591	0.53665	-3.574	0.17482	T	.	.	0.088	0.16973	B	.;.;.	.;.;.	1.140137	0.15271	11.72	0.87410322244417504	0.17207	0.34269	0.25027	N	ALL	0.212553	0.33822	N	-0.178977643759795	0.34011	1.936202	-0.265012588975464	0.29260	1.63785	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.17	5.17	0.70848	1.340000	0.33501	-0.424000	0.09265	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	14.530	0.67507	403	0.82567	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1973.33	34	chr4	140373679	.	C	T	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=808;ExcessHet=0;FS=3.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=0.269;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,52:102:99:0|1:140373660_G_C:1987,0,1923:140373660	18	0	1	0
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	0/1:63,22:85:75:.:.:75,0,1934:.	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	0/1:52,29:86:99:.:.:415,0,887:.	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	0/1:72,47:119:99:1050,0,1780	17	0	2	0
chr4	158690420	158690420	C	A	exonic	ETFDH	.	nonsynonymous SNV	ETFDH:NM_001281738:exon4:c.C496A:p.P166T,ETFDH:NM_001281737:exon5:c.C538A:p.P180T,ETFDH:NM_004453:exon6:c.C679A:p.P227T	Glutaric acidemia IIC, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	453819	not_provided|Multiple_acyl-CoA_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.753	0.606587249634	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs141407224	1.64e-05	2.397e-05	1.283e-05	1.996e-05	0.0002	1.092e-05	9.12e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	1.229e-05	6.851e-05	5.876e-05	6.58e-06	6.57e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.006	0.70582	D	0.989	0.62824	D	0.915	0.65091	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-3.53	0.95728	D	-7.52	0.95424	D	0.8	0.79599	1.084	0.99007	D	0.955	0.98531	D	10	0.9110247	0.90467	D	0.606587	0.96552	D	0.753	0.91541	.	.	0.99433080654	0.99427	0.7540086035364072	0.75347	0.526693845599	0.50296	0.647931337357	0.59692	T	0.617396	0.87959	D	0.228382	0.76569	D	0.271807	0.86674	D	0.997116684913635	0.90803	D	0.982268	0.94010	D	0.7803331	0.82674	0.7980144	0.88145	0.7803331	0.82676	0.7980144	0.88146	-8.743	0.66027	D	0.7227336974908166	0.80392	0.734	0.74392	P	.;.;.	.;.;.	4.720858	0.75937	26.4	0.99712400916760324	0.81423	0.99080	0.90931	D	AEFBI	0.897303	0.83932	D	1.00904894180324	0.96017	14.20913	0.942229121148304	0.97163	15.68665	0.999999999536563	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	7.148000	0.76979	7.617000	0.62147	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	20.333	0.98727	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1223.33	33	chr4	158690420	.	C	A	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.069;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.711;SOR=0.782	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1237,0,883	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,19:96:99:0|1:176711629_G_C:199,0,3022:176711629	9	0	10	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|1:78,20:98:99:0|1:176711629_G_C:203,0,3041:176711629	4	0	14	1
chr4	185191046	185191046	C	T	exonic	CFAP97	.	nonsynonymous SNV	CFAP97:NM_001292033:exon2:c.G151A:p.V51I,CFAP97:NM_020827:exon2:c.G151A:p.V51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00451169287895	.	.	8.434e-06	0	0	0	0	0	0	6.134e-05	6.5e-06	1	154602	rs769200893	1.369e-06	1.368e-06	0	2.752e-06	2.323e-05	2.3e-07	9e-08	3.86e-06	1.44e-06	0	0	0	0	0	0	0	0	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.319	0.19188	T	0.001	0.09854	B	0.001	0.12992	B	0.759394	0.09636	N	0.871978	1	0.08975	N	.	.	.	0.74	0.50459	T	-0.1	0.08495	N	0.041	0.02861	-1.0080	0.27541	T	0.082	0.32178	T	10	0.04298204	0.03101	T	0.004512	0.11094	T	0.101	0.28911	0.163	0.06730	0.471372864162	0.46764	0.022142143350795097	0.02166	0.0160666637987	0.01538	0.239224821329	0.02722	T	0.008557	0.07851	T	-0.494312	0.00615	T	-0.847191	0.00996	T	0.033868200290736	0.02616	T	0.582242	0.21771	T	0.0342509	0.03807	0.026847133	0.00798	0.0342509	0.03806	0.026847133	0.00798	-3.378	0.14762	T	.	.	0.069	0.05447	B	.;.;.;.	.;.;.;.	-0.155275	0.03328	0.582	0.69776636453338348	0.09081	0.13322	0.17791	N	AEFDGBHCI	0.033504	0.03990	N	-0.904373526199237	0.10739	0.5146736	-0.922351344145349	0.11567	0.5900702	0.999909200230184	0.45458	0.75658	0.98901	0	0.858454	0.99946	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.08	0.687	0.17184	-0.797000	0.04675	-0.362000	0.09668	0.599000	0.40250	0.000000	0.06391	0.004000	0.18990	0.297000	0.24428	0.2337:0.2833:0.1083:0.3747	0.850	0.01095	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	68	chr4	185191046	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=1287;ExcessHet=0;FS=8.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.554;SOR=1.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,24:70:99:0|1:185191046_C_T:810,0,1849:185191046	18	0	1	0
chr4	186706701	186706701	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.G3127A:p.V1043M	.	431	1089	2	0	0	2	0.000917431	.	.	.	2358141	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0417469897079	8.1e-05	.	5.796e-05	0.0001	0	0	0	5.993e-05	0	0.0001	5.82e-05	9	154602	rs372605617	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.472e-05	0	0	0	0	0.0001	9.938e-05	0.0003	9.857e-05	9.85e-05	0.0001	5.381e-05	0.0002	6.007e-05	4.88e-05	0.0001	8.877e-05	2.413e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.988	0.62325	D	0.954	0.69447	D	0.000011	0.62929	D	0.064020	0.998384	0.44847	D	2.835	0.82492	M	0.34	0.58176	T	-2.57	0.55501	D	0.33	0.37093	-0.3062	0.74812	T	0.346	0.71107	T	10	0.4537744	0.58861	T	0.041747	0.60094	D	0.352	0.67326	.	.	0.710418626502	0.70789	0.43290972346027645	0.43207	0.481574300456	0.47135	0.444152235985	0.31144	T	0.380405	0.74295	T	-0.270698	0.11680	T	-0.326291	0.41880	T	0.608733475208282	0.36750	D	0.989634	0.96601	D	0.51382184	0.67902	0.4906596	0.70534	0.51382184	0.67903	0.4906596	0.70534	-9.336	0.69833	D	.	.	0.201	0.42549	B	.;.	.;.	3.836451	0.55490	23.6	0.99866729026233636	0.94457	0.66774	0.33195	D	AEFBCI	0.165583	0.29209	N	0.344455686334606	0.58446	4.017041	0.17805900700487	0.48647	3.077827	0.999984656668329	0.51787	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.99	4.15	0.47978	1.692000	0.37350	7.665000	0.64460	0.599000	0.40250	0.896000	0.31333	1.000000	0.68203	0.004000	0.06068	0.0:0.7686:0.0:0.2314	8.969	0.35053	948	0.11499	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1538.33	184	chr4	186706701	.	C	T	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=2789;ExcessHet=0;FS=2.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.321;SOR=0.565	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1552,0,1674	18	0	1	0
chr5	843684	843684	G	T	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon4:c.C544A:p.L182I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00283197213448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.158	0.31629	T	0.437	0.35811	B	0.45	0.46092	P	0.143443	0.02904	U	2.304150	1	0.19694	N	.	.	.	1.79	0.25509	T	-0.74	0.20791	N	0.191	0.20925	-0.9942	0.31512	T	0.061	0.25528	T	10	0.12022483	0.22767	T	0.002832	0.05927	T	0.064	0.18567	0.406	0.43902	0.0884992946249	0.08302	0.2648074907156374	0.26393	2.33779716334	0.96738	0.305630385876	0.11246	T	0.003604	0.03010	T	-0.317052	0.07142	T	-0.693199	0.06206	T	0.257236033678055	0.23194	T	0.414759	0.10842	T	0.067627	0.14661	0.052630078	0.08707	0.067627	0.14661	0.052630078	0.08707	-6.668	0.51569	T	.	.	0.116	0.23430	B	.	.	1.156244	0.15446	11.86	0.967014645630626	0.30777	0.01599	0.05190	N	AEFGI	0.062958	0.12134	N	-1.18418081837755	0.05239	0.238356	-1.29580383312888	0.04487	0.2117657	4.70695244586783E-4	0.07066	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.98	-0.713	0.10657	-0.932000	0.04072	0.027000	0.13676	-0.403000	0.05289	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.0:0.4074:0.4382:0.1544	8.409	0.31795	946	0.12043	Palmitoyltransferase, DHHC 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	658.33	208	chr5	843684	.	G	T	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=1911;ExcessHet=0;FS=2.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.48;MQRankSum=-4.678;QD=1.55;ReadPosRankSum=0.622;SOR=0.98	GT:AD:DP:GQ:PL	0/1:356,68:424:99:672,0,8855	18	0	1	0
chr5	1216812	1216812	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon8:c.G1040A:p.G347E	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0196523290829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.71	0.05525	T	0.003	0.11197	B	0.006	0.12133	B	0.089063	0.20447	N	0.546335	1	0.08975	N	0.675	0.16386	N	-0.73	0.73100	T	1.15	0.01151	N	0.252	0.28498	-1.0746	0.08431	T	0.114	0.40605	T	10	0.08980599	0.15590	T	0.019652	0.42067	T	0.187	0.46274	0.547	0.66156	0.318252033908	0.31440	0.7660285132573611	0.76551	0.386860189921	0.39976	0.401363819838	0.25258	T	0.048092	0.27915	T	-0.101888	0.36113	T	-0.384131	0.35239	T	0.0299772681369198	0.01985	T	0.162684	0.01473	T	0.047160346	0.08015	0.0824583	0.18822	0.047160346	0.08014	0.0824583	0.18822	-7.58	0.58171	D	.	.	0.104	0.18869	B	.	.	-0.280195	0.02706	0.354	0.44357329132370638	0.03404	0.06399	0.12402	N	AEFGBI	0.103425	0.20721	N	-1.52941380551447	0.01659	0.07256962	-1.50372391234481	0.02315	0.1062956	0.992533893105164	0.32874	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	-3.2	0.04838	0.109000	0.15252	-0.432000	0.09215	-3.158000	0.00116	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.8432:0.1568:0.0	22.101	0.99968	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	.	.	.	.	.	.	.	.	0.02632	2571.33	44	chr5	1216812	.	G	A	2571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.874;DP=1150;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=1.11;SOR=0.838	GT:AD:DP:GQ:PL	0/1:134,107:241:99:2585,0,3321	18	0	1	0
chr5	2753330	2753330	G	C	exonic	C5orf38	.	nonsynonymous SNV	C5orf38:NM_001306149:exon3:c.G379C:p.A127P,C5orf38:NM_001306150:exon3:c.G379C:p.A127P,C5orf38:NM_178569:exon3:c.G379C:p.A127P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00833025945994	0.0002	.	0.0002	0	0.0003	0	0	0.0003	0.0011	6.062e-05	0.0001488	23	154602	rs150419625	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0001	0.0019	0.0015	5.975e-05	0.0002	0.0034	0	0	0.0029	8.995e-05	0.0003	8.115e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0	0	0.0004	0.0023	0	0	0.0103	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.455	0.46267	P	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-4.17	0.75456	D	0.227	0.25745	-1.0177	0.24463	T	0.038	0.16591	T	8	0.01376757	0.00291	T	0.00833	0.22055	T	0.142	0.37995	.	.	0.0482279557977	0.04254	0.0569419881126778	0.05635	0.363252834742	0.37958	0.253422498703	0.04137	T	0.096227	0.39781	T	-0.31336	0.07456	T	-0.386175	0.35000	T	0.128159333149179	0.15211	T	0.341666	0.07415	T	0.32167262	0.54781	0.45075184	0.68038	0.32167262	0.54781	0.45075184	0.68039	-3.351	0.14404	T	.	.	0.194	0.41418	B	.;.	.;.	-0.426243	0.02117	0.201	0.60768556736038715	0.06544	0.01789	0.05595	N	AEFDBHCI	0.038366	0.05420	N	-0.901775079845004	0.10801	0.5179268	-1.13348138215383	0.07068	0.3424511	0.999998260987866	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	1.79	-3.05	0.05069	-1.686000	0.02030	-1.140000	0.06212	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.687:0.0:0.313:0.0	8.067	0.29831	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	0	0	0	1	0	0	0	0.003528	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1468.33	35	chr5	2753330	.	G	C	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=775;ExcessHet=0;FS=6.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.393;SOR=1.213	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1482,0,1925	18	0	1	0
chr5	37169194	37169194	T	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon34:c.A6830C:p.Q2277P,CPLANE1:NM_023073:exon34:c.A6830C:p.Q2277P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00553387396313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.16628	T	0.181	0.29346	T	.	.	.	.	.	.	0.713277	0.09996	N	0.856460	1	0.08975	N	.	.	.	1.89	0.23688	T	-0.55	0.16799	N	0.086	0.10198	-1.0037	0.28844	T	0.035	0.14857	T	10	0.07541081	0.11651	T	0.005534	0.14258	T	0.010	0.01040	.	.	0.126345400529	0.12197	0.13684421542051245	0.13608	0.14765671304	0.16662	.	.	.	0.005775	0.07024	T	-0.289835	0.09652	T	-0.654104	0.08669	T	0.107207208871841	0.13131	T	0.493751	0.15260	T	0.08783549	0.20468	0.099811606	0.23844	0.08783549	0.20468	0.099811606	0.23843	-2.936	0.09508	T	0.11374253387425352	0.09988	0.067	0.03128	B	.;.;.	.;.;.	0.123372	0.05206	1.715	0.42378211590224724	0.03120	0.17726	0.19961	N	AEFBI	0.145791	0.26908	N	-1.03083889239714	0.07969	0.3720266	-1.04250771898162	0.08863	0.4379336	0.0738185135377731	0.15646	0.562547	0.31514	0	0.636889	0.57051	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.81	0.791	0.17762	0.117000	0.15414	-0.386000	0.09508	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.052000	0.15357	0.0:0.0722:0.3932:0.5345	7.940	0.29117	138	0.94518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2063.33	34	chr5	37169194	.	T	G	2063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=823;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.286;SOR=0.625	GT:AD:DP:GQ:PL	0/1:107,81:188:99:2077,0,2968	18	0	1	0
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K,CPLANE1:NM_023073:exon26:c.C4793A:p.T1598K	.	1	1495	26	0	0	26	0.00862069	.	.	.	501350	Joubert_syndrome_17|CPLANE1-related_disorder|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.008772	0.000000	0.008621	0.006098	0.007576	0.02632	2001.33	35	chr5	37183388	.	G	T	2001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.687;DP=870;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.519;SOR=0.856	GT:AD:DP:GQ:PL	0/1:103,83:186:99:2015,0,2869	18	0	1	0
chr5	37239733	37239733	G	C	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon7:c.C814G:p.L272V,CPLANE1:NM_023073:exon7:c.C814G:p.L272V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00940763176297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.424e-06	8.893e-06	1.284e-05	5.893e-06	1.217e-05	5.26e-06	4.05e-06	6.79e-06	5.23e-06	0	0	0	0	0	0	1.217e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.093	0.39799	T	.	.	.	.	.	.	0.017589	0.27685	U	0.216602	1	0.81001	D	.	.	.	0.71	0.51228	T	-1.13	0.29114	N	0.307	0.34659	-1.0900	0.05532	T	0.096	0.36055	T	10	0.16347605	0.30610	T	0.009408	0.24670	T	0.091	0.26358	0.261	0.20473	0.581850371773	0.57856	0.07336335455569093	0.07273	0.144110295782	0.16271	.	.	.	0.009974	0.09046	T	-0.0907239	0.37956	T	-0.368095	0.37111	T	0.61422199010849	0.36970	D	0.686731	0.29555	T	0.10120802	0.23906	0.0727192	0.15721	0.10120802	0.23905	0.0727192	0.15721	-4.037	0.24355	T	0.4346176551454514	0.52118	0.075	0.05711	B	.;.	.;.	1.668576	0.21274	15.13	0.99145080840443789	0.53655	0.81906	0.41219	D	AEFDGBI	0.163772	0.29009	N	0.200459176834163	0.51221	3.305169	0.27951658295728	0.54346	3.599758	0.401047293413538	0.20130	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.46	4.53	0.55009	0.631000	0.24258	3.229000	0.36897	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2902:0.5756:0.1342	9.002	0.35247	160	0.93798	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1272.33	34	chr5	37239733	.	G	C	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.48;DP=739;ExcessHet=0;FS=4.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.571;SOR=0.368	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1286,0,1405	18	0	1	0
chr5	38418209	38418209	C	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon7:c.C936A:p.D312E,EGFLAM:NM_001205301:exon12:c.C1638A:p.D546E,EGFLAM:NM_152403:exon12:c.C1638A:p.D546E	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	.	0.0012	0.00219649	0.0030	0	0.0018	0	0.0011	0.0021	0.0055	0.0113	0.0027555	426	154602	rs146754357	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0015	0.0100	0.0098	5.974e-05	0.0013	0.0057	5.038e-05	0.0009	0.0120	0.0009	0.0021	0.0106	0.0016	0.0016	0.0012	0.0021	0.0125	0.0015	0.0014	0.0099	0.0090	0.0001	0	0.0034	0.0055	0.0002	0.0009	0.0068	0.0014	0.0019	0.0125	0.178	0.50132	T	0.01	0.65728	D	0.987	0.73220	D	0.946	0.70672	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-1.59	0.82076	D	-1.58	0.38151	N	0.934	0.95608	0.181	0.85585	D	0.636	0.87270	D	10	0.012768745	0.00273	T	.	.	.	0.645	0.86536	0.674	0.81200	0.715032251236	0.71253	0.4969246938967574	0.49613	0.471409030193	0.46407	0.60979115963	0.54286	T	0.192579	0.54778	T	-0.00602708	0.50820	T	0.228954	0.84621	D	0.0328081791101915	0.02440	T	0.776822	0.40920	T	0.20550063	0.42694	0.21532542	0.46116	0.20550063	0.42694	0.21532542	0.46115	-5.949	0.45935	T	.	.	0.545	0.66579	A	.;.;.	.;.;.	2.667700	0.34770	19.72	0.99802575147595984	0.88728	0.93766	0.59130	D	AEFDGBI	0.726788	0.67534	D	0.439899094466457	0.63633	4.600774	0.469198159260859	0.65958	4.890156	0.999999999983834	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.78	5.78	0.91418	1.749000	0.37946	1.384000	0.26059	0.595000	0.32841	0.999000	0.42656	0.807000	0.27003	0.574000	0.30748	0.0:0.9307:0.0:0.0693	15.178	0.72618	878	0.29785	Laminin G 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	0.009063	0.000000	0.005435	0.008772	0.000000	0.017241	0.012195	0.022727	0.02632	2306.33	42	chr5	38418209	.	C	A	2306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=836;ExcessHet=0;FS=4.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.626;SOR=0.995	GT:AD:DP:GQ:PL	0/1:93,96:189:99:2320,0,2252	18	0	1	0
chr5	72198000	72198000	G	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.G4267T:p.V1423L,MAP1B:NM_005909:exon5:c.G4645T:p.V1549L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0123578011418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.333	0.18395	T	0.976	0.58310	D	0.676	0.53321	P	0.000032	0.55875	D	0.000000	0.998568	0.45092	D	1.1	0.28011	L	3.9	0.03516	T	0.17	0.05125	N	0.438	0.47672	-1.0282	0.21038	T	0.021	0.08732	T	10	0.2855143	0.46133	T	0.012358	0.30863	T	0.184	0.45763	0.111	0.02112	0.334885890373	0.33091	0.17740196379909018	0.17659	0.854938578419	0.68716	0.698049783707	0.66863	T	0.178864	0.52966	T	-0.102531	0.36005	T	-0.385055	0.35131	T	0.887431144714355	0.53793	D	0.754025	0.37642	T	0.41337487	0.61648	0.34079322	0.59827	0.41337487	0.61648	0.34079322	0.59826	-3.681	0.19038	T	.	.	0.665	0.71550	P	.	.	4.393983	0.67831	25.2	0.99482000028801199	0.66959	0.95481	0.64892	D	AEFDBCI	0.871945	0.79358	D	0.460687244015667	0.64813	4.744357	0.499829075595656	0.67979	5.157219	0.999999999998839	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	5.19	0.71428	7.694000	0.83480	11.931000	0.99922	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	18.709	0.91613	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	0	0	.	.	.	.	.	.	.	.	0.02632	30.33	42	chr5	72198000	.	G	T	30.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.681;DP=1228;ExcessHet=0;FS=77.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=0.554;SOR=6.272	GT:AD:DP:GQ:PL	0/1:115,22:137:44:44,0,3195	18	0	1	0
chr5	72460214	72460214	A	G	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon2:c.T1283C:p.M428T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.054365046977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-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	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.018	0.59732	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	0.77	0.49642	T	-4.6	0.78976	D	0.795	0.79118	-0.7137	0.59771	T	0.198	0.55315	T	10	0.82313	0.81506	D	0.054365	0.65828	D	0.661	0.87332	0.513	0.61153	0.631548241842	0.62853	0.49593973442780376	0.49514	2.55323415413	0.97924	0.883033216	0.94366	D	0.13996	0.47426	T	0.217313	0.75520	D	0.0743787	0.75203	D	0.990364491939545	0.80583	D	0.862314	0.55722	D	0.6212007	0.73827	0.71633756	0.83257	0.6212007	0.73828	0.71633756	0.83258	-12.928	0.89064	D	.	.	0.995	0.95728	P	.	.	4.022321	0.59421	24.1	0.99316654892628198	0.59204	0.98924	0.88695	D	AEFGBI	0.959865	0.98040	D	0.679537011297181	0.78290	6.842154	0.730289908617049	0.84676	8.359519	0.999999999999976	0.74766	0.554377	0.28877	0	0.491513	0.07743	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	9.325000	0.96006	9.274000	0.79659	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.120	0.81156	827	0.39843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	856.33	35	chr5	72460214	.	A	G	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.68;DP=706;ExcessHet=0;FS=4.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.289;SOR=0.304	GT:AD:DP:GQ:PL	0/1:41,39:80:99:870,0,1101	18	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,30:139:83:.:.:83,0,2257:.	9	0	10	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	177.35	45	chr5	79044510	.	T	C	177.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.88;DP=1020;ExcessHet=0;FS=83.154;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=2.68;SOR=7.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,17:87:99:0|1:79044510_T_C:191,0,2481:79044510	18	0	1	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	177.33	45	chr5	79044511	.	G	A	177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.897;DP=917;ExcessHet=0;FS=48.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=-2.575;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,17:87:99:0|1:79044510_T_C:191,0,2481:79044510	18	0	1	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	0/1:48,35:83:99:1194,0,1809	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	0/1:48,35:83:99:1194,0,1809	9	1	8	1
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|1:61,6:67:5:0|1:102270769_T_C:5,0,2332:102270769	12	0	5	2
chr5	113553967	113553967	C	T	exonic	YTHDC2	.	nonsynonymous SNV	YTHDC2:NM_001345976:exon14:c.C1178T:p.T393I,YTHDC2:NM_001345975:exon15:c.C1592T:p.T531I,YTHDC2:NM_022828:exon16:c.C2078T:p.T693I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630	0.113074275696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773932822	9.06e-06	1.026e-05	8.292e-06	9.84e-06	0.0005	5.06e-06	3.9e-06	0.0001	7.787e-05	0	0	0	0	0	0.0005	9.082e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	3.84	0.95699	H	0.85	0.75911	T	-5.49	0.85765	D	0.917	0.92317	0.872	0.95296	D	0.770	0.92189	D	10	0.91486096	0.90848	D	0.113074	0.79145	D	0.630	0.85769	0.699	0.83592	0.508361140133	0.50476	0.8913892696044378	0.89108	0.508299232049	0.48989	0.850483477116	0.89687	D	0.771167	0.96066	D	0.411074	0.90541	D	0.352703	0.90423	D	0.998528242111206	0.94393	D	0.958304	0.94130	D	0.9348186	0.94722	0.9180656	0.96261	0.9348186	0.94722	0.9180656	0.96262	-10.105	0.74538	D	.	.	0.994	0.95728	P	.;.	.;.	4.583249	0.72430	25.8	0.99905525059376943	0.97651	0.97072	0.72527	D	AEFBI	0.694636	0.65357	D	1.04613102861581	0.96998	15.43871	0.936582413932115	0.96978	15.41156	0.999774960236731	0.42865	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	5.906000	0.69639	7.684000	0.65448	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.395	0.94594	896	0.25515	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	34	chr5	113553967	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=692;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.072;SOR=1.004	GT:AD:DP:GQ:PL	0/1:25,27:52:99:632,0,541	18	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	82.15	34	chr5	116015368	.	T	TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	82.15	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.156;DP=973;ExcessHet=0.119;FS=40.307;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-2.229;SOR=4.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,8:111:7:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:7,0,4293:116015368	17	0	2	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|1:70,19:89:7:0|1:119499447_G_C:7,0,2187:119499447	13	0	6	0
chr5	128084257	128084257	G	0	exonic	SLC12A2	.	.	.	.	266	1228	2	0	26	28	0.00081367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	408.52	34	chr5	128084257	.	G	*	408.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=674;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.703;SOR=0.5	GT:AD:DP:GQ:PL	0/1:15,12:27:99:438,0,562	17	0	2	0
chr5	132825563	132825563	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.G578A:p.G193D,SHROOM1:NM_001172700:exon4:c.G578A:p.G193D	.	424	1059	39	0	0	39	0.0180807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0060	0.00579073	0.0272	0.0088	0.0044	0	0.0595	0.0289	0.0556	0.0532	0.0051228	792	154602	rs201403774	0.0104	0.0098	0.0101	0.0107	0.0243	0.0102	0.0102	0.0233	0.0228	0.0010	0.0028	0.0032	0	0.0120	0.0071	0.0104	0.0094	0.0243	0.0070	0.0070	0.0068	0.0073	0.0248	0.0067	0.0065	0.0212	0.0199	0.0016	0.0164	0.0021	0.0029	0	0.0089	0.0034	0.0105	0.0066	0.0248	0.506	0.20912	T	0.191	0.28958	T	0.0	0.02946	B	0.001	0.04355	B	0.000246	0.00537	N	8.027000	1	0.08975	N	1.63	0.41750	L	1.01	0.41058	T	-1.05	0.34795	N	0.059	0.03956	-1.0255	0.21919	T	0.044	0.18783	T	10	0.0028704703	0.00046	T	.	.	.	0.016	0.02506	.	.	.	.	0.10352723564963877	0.10282	1.65912826013	0.89650	0.840236067772	0.88130	D	0.014544	0.12362	T	-0.678957	0.00049	T	-0.727102	0.04460	T	0.00721448740604123	0.00083	T	0.471453	0.14032	T	0.10786244	0.25505	0.07335153	0.15931	0.10786244	0.25505	0.07335153	0.15930	-5.605	0.42838	T	.	.	0.119	0.31956	B	.;.;.;.;.	.;.;.;.;.	-0.214462	0.03019	0.459	0.92919892449973063	0.22481	0.02038	0.06102	N	AEFDBHCI	0.058653	0.11020	N	-1.69654386829525	0.00854	0.03694855	-1.83795273338028	0.00645	0.02867746	0.999999999993794	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	4.32	-8.64	0.00758	-2.224000	0.01296	-2.732000	0.03419	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2121:0.1278:0.421:0.2391	2.462	0.04267	909	0.22467	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1;.;Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm 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	0	0	0.008901	0.000000	0.001404	0.006098	0.000000	0.000000	0.016234	0.023077	0.02632	990.33	34	chr5	132825563	.	C	T	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.024;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.27;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1004,0,693	18	0	1	0
chr5	139848493	139848493	T	0	exonic	NRG2	.	.	.	.	438	849	203	25	7	260	0.129677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	153.63	7	chr5	139848493	.	T	*	153.63	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.99;DP=329;ExcessHet=1.4774;FS=1.101;InbreedingCoeff=-0.1876;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-0.705;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:52:0|1:139848487_CCCGGGT_C:52,0,339:139848487	12	0	3	4
chr5	140842109	140842109	A	G	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.A788G:p.K263R,PCDHA8:NM_031856:exon1:c.A788G:p.K263R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00387992274916	0.0003	0.000798722	0.0005	0.0004	8.639e-05	0	0	0.0003	0	0.0017	0.0004334	67	154602	rs525941	0.0004	0.0006	0.0003	0.0006	0.0037	0.0004	0.0004	0.0034	0.0033	0.0001	0.0001	3.826e-05	0.0002	0	0.0012	0.0002	0.0004	0.0037	0.0003	0.0004	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0003	0	6.541e-05	0	0.0006	0	0	0.0003	0	0.0021	0.289	0.15047	T	0.474	0.12957	T	0.001	0.07471	B	0.006	0.14941	B	0.041254	0.23969	N	0.202762	1	0.08975	N	0.34	0.10450	N	4.65	0.01779	T	-0.78	0.23156	N	0.02	0.00445	-0.9118	0.46632	T	0.004	0.01365	T	10	0.016244382	0.00342	T	0.00388	0.09117	T	0.016	0.02506	.	.	0.259272394797	0.25527	0.04833941567793164	0.04776	.	.	.	.	.	0.001721	0.01148	T	-0.730388	0.00024	T	-0.857306	0.00872	T	0.00630767614885262	0.00070	T	0.0969903	0.00718	T	0.02929249	0.02401	0.03536383	0.02775	0.02929249	0.02400	0.03536383	0.02775	-3.11	0.11481	T	.	.	0.055	0.00397	B	.;.	.;.	0.654332	0.10228	6.965	0.96084914752541406	0.28665	0.02974	0.07820	N	AEFDGBCI	0.051215	0.09027	N	-1.12280716308438	0.06239	0.2866647	-1.11730545162989	0.07369	0.3581969	0.00210025299316822	0.09151	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.584449	0.35598	0	.	.	3.73	1.37	0.21200	-1.674000	0.02051	.	.	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.6054:0.0:0.3946:0.0	4.518	0.11351	32	0.98147	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2629.33	173	chr5	140842109	.	A	G	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=2420;ExcessHet=0;FS=1.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.79;MQRankSum=-3.405;QD=12.7;ReadPosRankSum=-0.497;SOR=0.839	GT:AD:DP:GQ:PL	0/1:106,101:207:99:2643,0,2776	18	0	1	0
chr5	141247628	141247628	G	T	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G2050T:p.D684Y	.	177	1332	13	0	0	13	0.00485618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0287254289383	0.0033	0.00139776	0.0032	0.0005	0.0024	0	0.0029	0.0048	0.0023	0.0010	0.0028719	444	154602	rs141743374	0.0030	0.0030	0.0030	0.0030	0.0101	0.0029	0.0029	0.0079	0.0071	0.0010	0.0030	0.0150	0	0.0045	0.0101	0.0029	0.0044	0.0008	0.0026	0.0026	0.0024	0.0028	0.0034	0.0024	0.0023	0.0028	0.0027	0.0007	0.0011	0.0034	0.0109	0	0.0040	0.0170	0.0032	0.0047	0.0006	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.95	0.68788	D	.	.	.	.	0.998051	0.22374	N	3.835	0.95663	H	0.7	0.51474	T	-7.61	0.95366	D	0.352	0.39356	-0.5489	0.66829	T	0.377	0.73505	T	9	0.007078141	0.00161	T	0.028725	0.51358	D	0.111	0.31313	.	.	0.803649103353	0.80181	0.6556818062573543	0.65504	1.3502857246	0.84057	0.543659925461	0.44963	T	0.024686	0.18606	T	-0.366967	0.03750	T	-0.300738	0.44646	T	0.0967984223859577	0.12001	T	0.712229	0.32360	T	0.8984929	0.91248	0.8567777	0.91960	0.8984929	0.91250	0.8567777	0.91961	-12.405	0.86768	D	.	.	0.181	0.39373	B	.	.	2.678221	0.34935	19.76	0.99304279186634714	0.58759	0.33648	0.24879	N	AEFDI	0.134589	0.25465	N	0.206021338219787	0.51491	3.329854	-0.0340822715091486	0.38185	2.246229	0.0205938325982936	0.13272	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.25	3.37	0.37692	-0.886000	0.04265	.	.	0.564000	0.28548	0.000000	0.06391	0.000000	0.08366	0.352000	0.25704	0.0:0.0:0.8326:0.1674	12.573	0.55700	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011918	0.026596	0.009537	0.008333	0.000000	0.000000	0.006289	0.007692	0.02632	1999.33	47	chr5	141247628	.	G	T	1999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.39;DP=952;ExcessHet=0;FS=2.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.541;SOR=0.505	GT:AD:DP:GQ:PL	0/1:55,74:129:99:2013,0,1320	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,42:201:99:.:.:649,0,4809:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,57:205:99:.:.:762,0,4761:.	1	0	18	0
chr5	141341019	141341019	T	A	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.T2048A:p.I683K,PCDHGA2:NM_032009:exon1:c.T2048A:p.I683K	.	7	1513	2	0	0	2	0.000660502	.	.	.	2281644	not_specified|EBV-positive_nodal_T-_and_NK-cell_lymphoma	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00395116456154	.	0.000199681	0.0002	0.0007	0.0002	0.0001	0.0002	4.504e-05	0.0011	0.0007	1.29e-05	2	154602	rs140187884	0.0001	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0006	0.0005	0.0002	3.827e-05	0.0002	0	0.0010	8.634e-05	0.0001	0.0008	0.0003	0.0004	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0006	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0.0012	0.517	0.07330	T	0.49	0.11551	T	0.0	0.02946	B	0.0	0.01387	B	0.181115	0.03182	N	1.856860	0.999999	0.08975	N	-1.545	0.00469	N	0.95	0.43279	T	2.15	0.00343	N	0.055	0.03069	-1.0607	0.11582	T	0.033	0.14290	T	10	0.018499017	0.00403	T	0.003951	0.09337	T	0.049	0.13647	.	.	0.154104182512	0.14974	0.3519186066863936	0.35105	0.556258514261	0.52292	.	.	.	3.99E-4	0.00124	T	-0.609578	0.00127	T	-0.726381	0.04493	T	0.00725037156498995	0.00083	T	0.00177808	0.00004	T	0.021680482	0.00783	0.079228796	0.17819	0.021680482	0.00783	0.079228796	0.17818	-0.5	0.00583	T	.	.	0.080	0.07745	B	.;.	.;.	0.522464	0.08911	5.693	0.39870179314104187	0.02778	0.00187	0.01088	N	AEFBI	0.025806	0.01829	N	-1.41304730922937	0.02523	0.1115441	-1.33838541483724	0.03945	0.1850628	5.24059232106847E-5	0.04171	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.05	0.786	0.17734	-0.131000	0.10461	.	.	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4841:0.2484:0.1469:0.1205	1.867	0.03006	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000529	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.02632	1306.33	39	chr5	141341019	.	T	A	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.19;DP=1195;ExcessHet=0;FS=6.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.14;MQRankSum=-7.541;QD=8.43;ReadPosRankSum=-1.73;SOR=0.519	GT:AD:DP:GQ:PL	0/1:103,52:155:99:1320,0,2745	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	0/1:220,81:301:99:130,0,3885	8	0	11	0
chr5	141490370	141490370	G	A	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.G1130A:p.R377Q,PCDHGC5:NM_032407:exon1:c.G1130A:p.R377Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	2373762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00546064174655	.	.	2.471e-05	0	0	0.0001	0	2.997e-05	0	0	1.94e-05	3	154602	rs768474199	1.505e-05	1.505e-05	1.906e-05	1.1e-05	6.708e-05	9.85e-06	8.41e-06	1.779e-05	8.93e-06	0	6.708e-05	3.826e-05	2.519e-05	0	0	1.259e-05	4.967e-05	0	6.572e-05	6.567e-05	5.14e-05	8.071e-05	0.0002	3.517e-05	2.617e-05	5.286e-05	2.835e-05	0	0	0.0002	0	0	9.422e-05	0	8.82e-05	0	0	0.44	0.09264	T	0.797	0.06666	T	0.122	0.34093	B	0.083	0.29179	B	0.000334	0.45700	D	0.000000	1	0.81001	D	0.725	0.18768	N	4.67	0.01735	T	-0.78	0.21644	N	0.084	0.06587	-0.9747	0.36191	T	0.005	0.01761	T	10	0.18222693	0.33492	T	0.005461	0.14045	T	0.087	0.25287	0.506	0.60078	0.466230903105	0.46247	0.09791151796377738	0.09722	0.451143628614	0.44869	0.385929733515	0.23093	T	0.020482	0.16118	T	-0.451771	0.01103	T	-0.706418	0.05482	T	0.0753469690680504	0.09381	T	0.868313	0.62952	D	0.09173304	0.21504	0.07907525	0.17769	0.09173304	0.21503	0.07907525	0.17769	-6.714	0.52028	T	.	.	0.097	0.15788	B	.;.	.;.	3.440187	0.47849	22.5	0.95629882244322462	0.27411	0.68442	0.33803	D	AEFBI	0.297066	0.40675	N	-0.168516618686173	0.34450	1.96649	-0.0243270560851178	0.38620	2.277889	0.999985140697038	0.51787	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.56	4.69	0.58546	1.261000	0.32582	.	.	0.676000	0.76740	0.894000	0.31287	1.000000	0.68203	0.997000	0.79791	0.2248:0.0:0.7751:0.0	8.849	0.34346	732	0.54084	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1031.33	33	chr5	141490370	.	G	A	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1135;ExcessHet=0;FS=1.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.35;SOR=0.892	GT:AD:DP:GQ:PL	0/1:70,42:112:99:1045,0,1776	18	0	1	0
chr5	143314103	143314103	G	A	exonic	NR3C1	.	nonsynonymous SNV	NR3C1:NM_000176:exon3:c.C1250T:p.P417L,NR3C1:NM_001018074:exon3:c.C1250T:p.P417L,NR3C1:NM_001018075:exon3:c.C1250T:p.P417L,NR3C1:NM_001018076:exon3:c.C1250T:p.P417L,NR3C1:NM_001018077:exon3:c.C1250T:p.P417L,NR3C1:NM_001020825:exon3:c.C1250T:p.P417L,NR3C1:NM_001024094:exon3:c.C1250T:p.P417L,NR3C1:NM_001204258:exon3:c.C1172T:p.P391L,NR3C1:NM_001204259:exon3:c.C995T:p.P332L,NR3C1:NM_001204260:exon3:c.C983T:p.P328L,NR3C1:NM_001204261:exon3:c.C959T:p.P320L,NR3C1:NM_001204262:exon3:c.C305T:p.P102L,NR3C1:NM_001204263:exon3:c.C260T:p.P87L,NR3C1:NM_001204264:exon3:c.C245T:p.P82L,NR3C1:NM_001204265:exon3:c.C1250T:p.P417L,NR3C1:NM_001364180:exon3:c.C1250T:p.P417L,NR3C1:NM_001364181:exon3:c.C1250T:p.P417L,NR3C1:NM_001364182:exon3:c.C1250T:p.P417L,NR3C1:NM_001364184:exon3:c.C1250T:p.P417L,NR3C1:NM_001364185:exon3:c.C1250T:p.P417L,NR3C1:NM_001364183:exon4:c.C1250T:p.P417L	Glucocorticoid resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.114925854982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.056	0.49942	T	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.108387	1	0.81001	D	1.32	0.33002	L	-1.63	0.82715	D	-1.69	0.44852	N	0.502	0.54845	0.551	0.91243	D	0.729	0.90715	D	10	0.48957005	0.60911	T	0.114926	0.79394	D	0.460	0.75755	0.282	0.23801	0.954046782663	0.95355	0.3652941094978467	0.36443	0.159160048467	0.17961	0.698033928871	0.66861	T	0.528324	0.83631	D	0.112752	0.65636	D	-0.0758159	0.65207	T	0.938493311405182	0.60916	D	0.933207	0.79780	D	0.39241484	0.60203	0.35402888	0.60954	0.39241484	0.60204	0.35402888	0.60953	-5.613	0.43219	T	.	.	0.151	0.35056	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.092788	0.85052	28.5	0.99877071258869732	0.95410	0.98266	0.81082	D	AEFDGBCI	0.855895	0.77306	D	0.729046689045093	0.81536	7.545445	0.740674580027144	0.85458	8.586872	1.0	0.98316	0.75658	0.98901	0	0.749866	0.99406	0	0.653264	0.51672	0	0.656636	0.63459	0	.	.	5.72	5.72	0.89380	7.659000	0.82750	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	19.866	0.96800	875	0.30485	.;.;.;.;.;.;.;.	.	.	.	.	.	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	910.33	34	chr5	143314103	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.054;SOR=0.709	GT:AD:DP:GQ:PL	0/1:57,41:98:99:924,0,1386	18	0	1	0
chr5	148427404	148427404	T	A	exonic	FBXO38	.	nonsynonymous SNV	FBXO38:NM_030793:exon15:c.T2110A:p.C704S,FBXO38:NM_205836:exon15:c.T2110A:p.C704S	Neuronopathy, distal hereditary motor, type IID, Autosomal dominant	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00434081349861	.	.	0.0002	0	0.0003	0	0	1.505e-05	0	0.0010	0.0001358	21	154602	rs752609855	7.319e-05	7.319e-05	1.497e-05	0.0001	0.0012	6.181e-05	5.741e-05	0.0010	0.0010	0	0	0	0	0	0	0	1.656e-05	0.0012	5.909e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.168	0.23007	T	0.031	0.53788	D	0.397	0.34783	B	0.092	0.30031	B	0.000023	0.55875	D	0.125051	0.968376	0.81001	D	0.805	0.20218	L	1.5	0.31205	T	-2.55	0.55181	D	0.468	0.50508	-1.0813	0.07099	T	0.046	0.19839	T	10	0.03580627	0.01846	T	0.004341	0.10561	T	0.132	0.35948	0.277	0.23004	0.198222871337	0.19423	0.20989674395733204	0.20905	0.585960603407	0.54216	0.598226070404	0.52653	T	0.168335	0.51530	T	-0.241688	0.15135	T	-0.180542	0.56474	T	0.0804791084612772	0.10049	T	0.764224	0.39120	T	0.1715366	0.37793	0.29069614	0.55093	0.1715366	0.37793	0.29069614	0.55092	-1.307	0.01412	T	0.0990436158259977	0.07150	0.091	0.27821	B	.;.	.;.	2.524063	0.32617	19.10	0.88048277056236057	0.17677	0.97948	0.78351	D	AEFDBI	0.610638	0.59939	D	-0.123353629686149	0.36378	2.101872	0.0927476416462459	0.44184	2.705037	0.999975699794247	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	1.806000	0.38530	5.108000	0.47491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.140	0.72280	549	0.72275	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1787.33	33	chr5	148427404	.	T	A	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=791;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.145;SOR=0.976	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1801,0,2514	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:93,42:145:99:164,0,1610	4	0	14	1
chr5	154896280	154896280	A	G	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon24:c.T3406C:p.S1136P,GEMIN5:NM_015465:exon24:c.T3409C:p.S1137P	.	429	1053	39	1	0	41	0.0190964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0030	0.00559105	0.0063	0.0008	0.0018	0	0.0003	0.0031	0.0045	0.0325	0.0055239	854	154602	rs141010715	0.0041	0.0041	0.0032	0.0050	0.0325	0.0040	0.0040	0.0314	0.0310	0.0004	0.0015	0.0133	7.566e-05	0.0002	0.0067	0.0022	0.0044	0.0325	0.0026	0.0026	0.0021	0.0031	0.0292	0.0024	0.0023	0.0253	0.0238	0.0006	0	0.0008	0.0130	0	0.0003	0	0.0024	0.0024	0.0292	0.114	0.28646	T	0.116	0.36497	T	0.0	0.02946	B	0.0	0.01387	B	0.017482	0.01466	N	2.147060	1	0.08975	N	-0.205	0.04094	N	-0.47	0.70133	T	-0.25	0.11008	N	0.071	0.04426	-0.9543	0.40221	T	0.137	0.45260	T	10	0.0019928217	0.00028	T	.	.	.	0.121	0.33580	.	.	0.351180957027	0.34734	0.2168776531447135	0.21603	0.0911396486993	0.10291	0.29211217165	0.09230	T	0.005329	0.04780	T	-0.600865	0.00144	T	-0.61288	0.11751	T	0.00382648931139345	0.00040	T	0.515548	0.16619	T	0.04637304	0.07750	0.102424674	0.24549	0.04637304	0.07750	0.102424674	0.24548	-3.758	0.20178	T	.	.	0.061	0.01042	B	.	.	1.016826	0.13964	10.52	0.96708723199161006	0.30803	0.03278	0.08320	N	AEFBI	0.027854	0.02351	N	-1.25832730690589	0.04191	0.1886822	-1.26973720777014	0.04845	0.2295426	0.978409102380192	0.29919	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	-4.72	0.03032	-0.467000	0.06741	0.717000	0.20982	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.963000	0.52385	0.2397:0.0981:0.5653:0.0969	7.548	0.26946	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.030303	0.02632	1318.33	33	chr5	154896280	.	A	G	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=742;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.62;SOR=1.068	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1332,0,1113	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|1:0,498:501:99:1|1:157052556_TCG_*:22131,1506,0:157052556	5	7	6	1
chr5	179796001	179796001	A	C	exonic	LTC4S	.	nonsynonymous SNV	LTC4S:NM_145867:exon4:c.A290C:p.Y97S	Leukotriene C4 synthase deficiency, Autosomal recessive	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.94668288637	.	.	7.862e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs780238607	8.506e-05	8.14e-05	8.919e-05	8.083e-05	0.0009	7.208e-05	6.704e-05	0.0006	0.0006	0.0003	0.0004	4.195e-05	0.0009	0	0.0005	4.434e-05	9.022e-05	8.847e-05	8.742e-05	8.653e-05	3.943e-05	0.0001	0.0004	5.168e-05	4.048e-05	7.384e-05	3.116e-05	0.0001	0	0.0001	0	0.0004	0	0.0070	1.49e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.985	0.76457	D	0.001124	0.40136	U	0.170704	0.999963	0.58761	D	2.96	0.85114	M	-2.01	0.85468	D	-8.27	0.97202	D	0.921	0.92433	0.458	0.89955	D	0.706	0.89885	D	10	0.9790336	0.97808	D	0.946683	0.99629	D	0.787	0.92948	0.895	0.97551	0.900814313938	0.89982	0.8973301214139778	0.89704	1.34946530569	0.84047	0.924722075462	0.98661	D	0.401377	0.75870	T	0.176299	0.71702	D	0.317186	0.88973	D	0.806210815906525	0.46781	D	.	.	.	0.9402083	0.95269	0.871627	0.92978	0.9402083	0.95270	0.871627	0.92979	-16.299	0.98175	D	.	.	0.876	0.81230	P	.;.;.	.;.;.	5.209915	0.87414	29.2	0.95954599031982157	0.28281	0.37664	0.25813	N	ALL	0.523082	0.54683	D	0.446053188021258	0.63978	4.642562	0.322825851796372	0.56885	3.852487	0.999999990305314	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	3.86	2.56	0.29842	2.482000	0.44883	9.885000	0.82229	0.557000	0.28285	0.379000	0.25998	1.000000	0.68203	0.983000	0.59808	0.8183:0.1816:0.0:0.0	9.258	0.36757	900	0.24599	.;.;.	.	.	.	.	.	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	0.003780	0.000000	0.001420	0.006135	0.000000	0.000000	0.006803	0.008130	0.02632	131.33	19	chr5	179796001	.	A	C	131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=473;ExcessHet=0;FS=3.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=0.931;SOR=0.223	GT:AD:DP:GQ:PL	0/1:19,8:27:99:145,0,504	18	0	1	0
chr6	7373201	7373201	C	G	exonic	CAGE1	.	nonsynonymous SNV	CAGE1:NM_205864:exon4:c.G1210C:p.V404L,CAGE1:NM_001170692:exon5:c.G1618C:p.V540L,CAGE1:NM_001170693:exon5:c.G1618C:p.V540L	.	455	1056	9	2	0	13	0.00611765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0038	0.00279553	0.0052	0.0009	0.0085	0	0.0002	0.0074	0.0086	0.0017	0.0049741	769	154602	rs34744890	0.0055	0.0055	0.0055	0.0055	0.0132	0.0054	0.0053	0.0108	0.0099	0.0010	0.0085	0.0082	2.52e-05	0.0003	0.0132	0.0061	0.0059	0.0015	0.0048	0.0048	0.0048	0.0048	0.0139	0.0045	0.0044	0.0124	0.0118	0.0010	0.0011	0.0139	0.0063	0.0002	9.432e-05	0.0238	0.0063	0.0052	0.0004	0.408	0.13925	T	0.307	0.28958	T	0.058	0.34363	B	0.022	0.31755	B	0.248975	0.15551	N	0.578289	1	0.08975	N	1.435	0.35949	L	1.25	0.36512	T	-0.88	0.23808	N	0.132	0.12770	-0.9654	0.38132	T	0.017	0.07092	T	10	0.005548537	0.00123	T	.	.	.	0.016	0.02506	0.216	0.13643	0.263140351381	0.25927	0.1973684627281306	0.19653	0.409721348275	0.41785	0.381331920624	0.22446	T	0.006164	0.05598	T	-0.638911	0.00085	T	-0.679497	0.07014	T	0.00693095521163231	0.00079	T	0.672833	0.28129	T	0.0467648	0.07881	0.03068497	0.01555	0.0467648	0.07881	0.03068497	0.01555	-2.012	0.04060	T	.	.	0.273	0.52776	B	.;.;.;.;.;.	.;.;.;.;.;.	0.190578	0.05766	2.211	0.66229862542150475	0.07998	0.02412	0.06823	N	AEFBI	0.058212	0.10907	N	-1.02066073810805	0.08176	0.3824215	-1.05420071977499	0.08619	0.424702	4.11658886670138E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.38	0.564	0.16487	-0.438000	0.06975	-0.005000	0.13145	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.0:0.481:0.2602:0.2588	5.079	0.13980	668	0.61153	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018145	0.045455	0.019022	0.005848	0.000000	0.008621	0.024540	0.007576	0.02632	2568.33	60	chr6	7373201	.	C	G	2568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.739;DP=949;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.46;SOR=0.464	GT:AD:DP:GQ:PL	0/1:82,108:190:99:2582,0,2077	18	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	38.54	34	chr6	7411419	.	G	C	38.54	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.888;DP=1585;ExcessHet=0;FS=159.624;InbreedingCoeff=-0.104;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.64;SOR=10.515	GT:AD:DP:GQ:PL	0/1:63,29:92:50:50,0,932	14	0	1	4
chr6	13800370	13800370	C	T	exonic	MCUR1	.	nonsynonymous SNV	MCUR1:NM_001031713:exon5:c.G754A:p.E252K	.	865	656	1	0	0	1	0.000761615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0180792057067	.	0.000199681	0.0001	0	0	0	0	0	0.0015	0.0009	0.0001035	16	154602	rs556879787	5.382e-05	6.159e-05	4.233e-05	6.54e-05	0.0008	4.408e-05	4.025e-05	0.0006	0.0006	0	0	0	0	0	0.0002	5.553e-06	0.0001	0.0008	7.513e-05	7.247e-05	6.647e-05	8.429e-05	0.0014	4.124e-05	3.239e-05	0.0006	0.0004	2.429e-05	0	0	0	0	0	0	6.098e-05	0	0.0014	0.077	0.34095	T	0.052	0.47581	T	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.050117	0.999977	0.53665	D	2.625	0.76847	M	0.89	0.45636	T	-3.39	0.66896	D	0.65	0.66101	-0.7524	0.57810	T	0.195	0.54942	T	10	0.41810092	0.56679	T	0.018079	0.40021	T	0.303	0.62400	.	.	0.661077055835	0.65823	0.6705365522777526	0.66991	0.291315313179	0.31540	0.569690287113	0.48634	T	0.162976	0.50785	T	-0.0867255	0.38614	T	0.0183758	0.71525	D	0.840085566043854	0.49334	D	0.928807	0.73814	D	0.30865526	0.53669	0.37701806	0.62811	0.30865526	0.53669	0.37701806	0.62811	-11.373	0.81663	D	.	.	0.356	0.56971	A	.	.	5.139306	0.86031	28.8	0.99875118111124794	0.95244	0.92003	0.54730	D	AEFGBI	0.466206	0.51395	N	0.680668914741826	0.78365	6.857003	0.651244041392534	0.78701	6.929914	0.99038582887172	0.32135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	3.156000	0.50406	4.774000	0.44793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.931	0.79446	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	407.33	16	chr6	13800370	.	C	T	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=557;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.489;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,20:34:99:421,0,271	18	0	1	0
chr6	19837874	19837874	-	GCG	exonic	ID4	.	nonframeshift insertion	ID4:NM_001546:exon1:c.120_121insGCG:p.A48_R49insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0	0	0	.	0	0	.	0	0.0003074	8	26028	rs537169414	0.0008	0.0007	0.0008	0.0008	0.0053	0.0008	0.0007	0.0045	0.0043	0.0005	0.0007	7.445e-05	0.0053	5.682e-05	0.0006	0.0007	0.0009	0.0022	0.0008	0.0008	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0005	0	0.0019	0.0003	0.0024	0	0.0034	0.0007	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	471.29	38	chr6	19837874	.	C	CGCG	471.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.621;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-2.147;SOR=0.627	GT:AD:DP:GQ:PL	0/1:15,14:29:99:485,0,588	18	0	1	0
chr6	20124479	20124479	G	A	exonic	MBOAT1	.	nonsynonymous SNV	MBOAT1:NM_001080480:exon8:c.C836T:p.P279L	.	438	1070	14	0	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00769616227535	0.0008	0.000199681	0.0017	0.0002	0.0046	0	0	0.0019	0.0044	0.0010	0.0016106	249	154602	rs146228602	0.0013	0.0013	0.0012	0.0013	0.0192	0.0012	0.0012	0.0163	0.0153	0.0015	0.0026	0.0073	2.519e-05	0.0001	0.0192	0.0010	0.0022	0.0013	0.0012	0.0012	0.0013	0.0012	0.0024	0.0011	0.0010	0.0017	0.0015	0.0003	0	0.0024	0.0078	0	0	0.0272	0.0014	0.0033	0.0004	0.789	0.03209	T	0.987	0.02382	T	0.0	0.02946	B	0.0	0.01387	B	0.001710	0.38216	N	0.225123	0.639846	0.30625	N	-1.55	0.00465	N	1.88	0.23884	T	0.47	0.03090	N	0.263	0.29774	-0.9068	0.47238	T	0.006	0.02093	T	10	0.005061716	0.00109	T	0.007696	0.20431	T	0.020	0.03691	.	.	0.220303561663	0.21668	0.38392698013635695	0.38307	0.0498426927795	0.05475	0.321025758982	0.13577	T	0.002451	0.01845	T	-0.570574	0.00220	T	-0.597915	0.12986	T	0.0055421875458427	0.00060	T	0.768423	0.39759	T	0.025006266	0.01390	0.023661518	0.00379	0.025006266	0.01390	0.023661518	0.00379	-5.901	0.45444	T	.	.	0.052	0.00234	B	.	.	0.620465	0.09889	6.649	0.27659509698069357	0.01384	0.32297	0.24550	N	AEFBIJ	0.059171	0.11156	N	-1.15634547892508	0.05676	0.2593829	-1.00269412925123	0.09726	0.4855458	0.874897168255725	0.25494	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.61	0.549	0.16403	2.523000	0.45241	3.048000	0.36109	-0.116000	0.14526	0.966000	0.33990	0.999000	0.35428	0.037000	0.13953	0.7298:0.0:0.2702:0.0	9.466	0.37978	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.010101	0.033967	0.020468	0.000000	0.017241	0.009146	0.003788	0.05263	1783.83	34	chr6	20124479	.	G	A	1783.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=710;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.52;SOR=0.542	GT:AD:DP:GQ:PL	0/1:30,35:65:99:831,0,655	17	0	2	0
chr6	25776640	25776640	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon9:c.A1033G:p.I345V,SLC17A4:NM_001286121:exon10:c.A871G:p.I291V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00299521	0.0012	0	0	0.0001	0	1.511e-05	0	0.0097	0.0010802	167	154602	rs150228078	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	2.988e-05	6.71e-05	0	2.519e-05	0	0.0005	2.429e-05	0.0005	0.0085	0.0003	0.0003	0.0001	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0.0034	0	0	0.0102	0.228	0.18434	T	0.525	0.13328	T	0.005	0.12996	B	0.021	0.19346	B	0.359920	0.13686	N	0.666005	1	0.08975	N	0.73	0.18813	N	0.34	0.58176	T	0.44	0.03955	N	0.076	0.05037	-0.9880	0.33102	T	0.019	0.07986	T	10	0.004125625	0.00081	T	.	.	.	0.098	0.28162	0.585	0.71245	0.311387274539	0.30754	0.10921806055746304	0.10850	0.0662604446901	0.07392	0.288225471973	0.08665	T	0.046599	0.27473	T	-0.606608	0.00133	T	-0.637304	0.09868	T	0.00938747378524161	0.00120	T	0.153785	0.01340	T	0.059848104	0.12212	0.093146056	0.21986	0.059848104	0.12212	0.093146056	0.21985	-3.936	0.24355	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	0.188817	0.05752	2.196	0.72122690817038215	0.09864	0.01240	0.04375	N	AEFBI	0.077401	0.15594	N	-1.12644831848748	0.06176	0.2836162	-1.10171037429664	0.07667	0.3738736	0.0030924310445907	0.09922	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.63	-3.92	0.03880	-0.168000	0.09914	-0.445000	0.09135	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3183:0.14:0.406:0.1357	2.824	0.05143	593	0.68665	.;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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	866.33	33	chr6	25776640	.	A	G	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.435;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.26;SOR=0.562	GT:AD:DP:GQ:PL	0/1:23,35:58:99:880,0,587	18	0	1	0
chr6	25983173	25983173	C	A	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon8:c.C884A:p.T295N	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00359425	0.0015	0	0	0.0001	0	3.104e-05	0.0012	0.0155	0.0014036	217	154602	rs143711869	0.0007	0.0007	0.0004	0.0010	0.0116	0.0007	0.0007	0.0110	0.0107	0.0001	7.73e-05	0	5.094e-05	0	0.0007	2.01e-05	0.0009	0.0116	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0124	0.0113	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0151	0.029	0.45756	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.80445	D	0.003503	0.34847	N	0.132552	0.565346	0.31223	N	3.28	0.90206	M	2.24	0.17923	T	-3.43	0.67359	D	0.466	0.50237	-1.0122	0.26228	T	0.078	0.31103	T	10	0.012442678	0.00267	T	.	.	.	0.099	0.28413	0.474	0.55020	0.585079339063	0.58181	0.4207413757588425	0.41990	0.880499500648	0.69754	0.443598479033	0.31068	T	0.201123	0.55891	T	-0.501344	0.00562	T	-0.482535	0.24177	T	0.156350673181647	0.17598	T	0.951105	0.81346	D	0.21270856	0.43631	0.2412389	0.49516	0.21270856	0.43631	0.2412389	0.49515	-7.274	0.56010	T	.	.	0.226	0.45738	B	.	.	4.137356	0.61958	24.4	0.99190250276350878	0.54965	0.55469	0.29872	D	AEFBCI	0.221851	0.34643	N	0.460695537912849	0.64813	4.744415	0.323219357858023	0.56907	3.854861	0.0272742771256211	0.13764	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.3	3.42	0.38259	0.965000	0.28916	2.680000	0.34010	0.454000	0.21428	0.385000	0.26047	0.998000	0.33993	0.963000	0.52385	0.0:0.775:0.0:0.225	6.091	0.19220	484	0.77165	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|E3 ubiquitin-protein ligase TRIM38, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1486.33	33	chr6	25983173	.	C	A	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=765;ExcessHet=0;FS=4.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.515;SOR=1.148	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1500,0,1804	18	0	1	0
chr6	26107645	26107645	T	C	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.A449G:p.N150S	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0002	0.00379393	0.0027	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0188	0.0023221	359	154602	rs138508711	0.0013	0.0013	0.0008	0.0018	0.0177	0.0012	0.0012	0.0169	0.0166	0.0001	0.0001	0	0.0007	0	0.0026	0.0002	0.0015	0.0177	0.0006	0.0006	0.0003	0.0010	0.0160	0.0005	0.0005	0.0131	0.0120	0.0001	0	0.0001	0	0.0002	0	0	0.0002	0	0.0160	0.335	0.12920	T	0.151	0.32355	T	0.003	0.11197	B	0.003	0.08700	B	0.136656	0.18439	U	0.497551	1	0.08975	N	0.695	0.17993	N	3.73	0.03982	T	-0.17	0.09627	N	0.13	0.12484	-0.9343	0.43500	T	0.002	0.00676	T	10	0.0032148063	0.00055	T	.	.	.	0.023	0.04649	.	.	0.0297737177859	0.01360	0.02418228079343082	0.02369	.	.	0.221163898706	0.01378	T	0.088794	0.38234	T	-0.715893	0.00029	T	-0.786171	0.02272	T	0.0100690716600304	0.00135	T	0.430757	0.11694	T	0.019084346	0.00434	0.02606675	0.00678	0.019084346	0.00433	0.02606675	0.00678	-1.071	0.01081	T	.	.	0.061	0.01059	B	.	.	-1.193482	0.00537	0.013	0.51771475789712851	0.04624	0.19478	0.20676	N	AEFBI	0.258806	0.37727	N	-1.43983462540798	0.02298	0.1013078	-1.45474056233437	0.02727	0.1259742	0.957174857847376	0.28289	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.530356	0.10902	0	.	.	5.13	-4.25	0.03508	-0.018000	0.12508	-3.959000	0.02427	-0.728000	0.03745	0.137000	0.23458	0.000000	0.08366	0.003000	0.05239	0.0:0.1552:0.6319:0.2129	10.395	0.43376	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.012195	0.015152	0.05263	3300.83	87	chr6	26107645	.	T	C	3300.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=1556;ExcessHet=0.119;FS=0.44;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.72;SOR=0.658	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1794,0,1744	17	0	2	0
chr6	28129606	28129606	C	T	exonic	ZSCAN16	.	stopgain	ZSCAN16:NM_001320555:exon4:c.C703T:p.R235X,ZSCAN16:NM_001320556:exon4:c.C616T:p.R206X,ZSCAN16:NM_025231:exon4:c.C703T:p.R235X	.	429	1085	7	1	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0013	0	0.0003	0	0	0.0001	0.0044	0.0090	0.0011578	179	154602	rs200631257	0.0006	0.0006	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	0.0001	4.472e-05	0	7.557e-05	0	0.0005	3.687e-05	0.0006	0.0093	0.0004	0.0004	0.0003	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	7.227e-05	0	0	0	0	0	0.0034	2.94e-05	0.0005	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	0.816235	0.09213	N	0.872656	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154261	0.69667	D	0.455064	0.93703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.882010	0.95863	35	0.99804578601010052	0.88906	0.71194	0.34909	D	AEFBI	0.034873	0.04394	N	0.328573393596308	0.57618	3.930036	0.0584986529199333	0.42484	2.570456	0.999988565152581	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.38	2.59	0.30091	0.828000	0.27088	0.078000	0.14353	0.549000	0.26987	0.001000	0.13787	0.011000	0.20116	0.984000	0.60418	0.0:0.8044:0.0:0.1956	8.062	0.29801	438	0.80235	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1415.33	38	chr6	28129606	.	C	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.547;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=2.39;SOR=0.709	GT:AD:DP:GQ:PL	0/1:120,68:188:99:1429,0,2815	18	0	1	0
chr6	28272748	28272748	C	T	exonic	ZSCAN26	.	nonsynonymous SNV	ZSCAN26:NM_001023560:exon3:c.C499T:p.R167W,ZSCAN26:NM_001111039:exon3:c.C496T:p.R166W,ZSCAN26:NM_001287421:exon3:c.C94T:p.R32W,ZSCAN26:NM_152736:exon3:c.C94T:p.R32W	.	423	1062	35	2	0	39	0.0180305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00439297	0.0063	0.0001	0.0005	0.0010	0.0002	0.0022	0.0063	0.0377	0.005097	788	154602	rs187327081	0.0037	0.0037	0.0029	0.0046	0.0317	0.0036	0.0036	0.0307	0.0303	0.0002	0.0008	0.0031	0.0003	0.0007	0.0083	0.0021	0.0031	0.0317	0.0021	0.0021	0.0016	0.0026	0.0263	0.0019	0.0018	0.0226	0.0212	0.0003	0	0.0010	0.0023	0.0008	0.0004	0	0.0020	0.0024	0.0263	.	.	.	0.012	0.69154	D	0.733	0.42736	P	0.12	0.32230	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24385	.	.	.	.	.	.	.	0.0033355355	0.00058	T	.	.	.	.	.	.	.	0.176091768786	0.17195	0.1230217323724493	0.12228	.	.	0.178530722857	0.00081	T	0.031673	0.22488	T	-0.357918	0.04248	T	-0.263216	0.48501	T	.	.	.	0.663034	0.31953	T	0.1252649	0.29369	0.122121446	0.29459	0.1252649	0.29369	0.122121446	0.29459	-4.383	0.29326	T	.	.	0.090	0.34449	B	.;.;.;.;.;.	.;.;.;.;.;.	2.663748	0.34712	19.70	0.78118967839709064	0.12163	0.31810	0.24431	N	AEFBI	.	.	.	.	.	.	.	.	.	0.382626342035467	0.19974	0.322412	0.05557	0	0.156173	0.03658	0	0.331037	0.05861	0	0.221052	0.04502	0	0.0967074	0.21669	4.04	3.17	0.35510	3.580000	0.53652	0.371000	0.17677	-0.202000	0.08738	0.018000	0.19461	0.000000	0.08366	0.477000	0.28498	0.0:0.8847:0.0:0.1153	7.767	0.28149	509	0.75304	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.007576	0.07895	1438.79	33	chr6	28272748	.	C	T	1438.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.245;DP=739;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.14;SOR=0.716	GT:AD:DP:GQ:PL	0/1:46,25:71:99:515,0,1048	16	0	3	0
chr6	28329502	28329502	C	T	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001243241:exon2:c.G182A:p.R61Q,ZSCAN31:NM_030899:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001135215:exon6:c.G182A:p.R61Q,ZSCAN31:NM_145909:exon6:c.G182A:p.R61Q	.	427	1062	31	2	0	35	0.0162112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00419329	0.0057	0.0002	0.0011	0.0012	0.0015	0.0030	0.0066	0.0274	0.0051616	798	154602	rs148156232	0.0043	0.0043	0.0035	0.0050	0.0273	0.0042	0.0042	0.0264	0.0260	0.0004	0.0017	0.0031	0.0004	0.0017	0.0087	0.0030	0.0034	0.0273	0.0028	0.0028	0.0025	0.0031	0.0220	0.0026	0.0025	0.0186	0.0174	0.0006	0	0.0014	0.0023	0.0010	0.0012	0.0034	0.0035	0.0033	0.0220	0.521	0.20988	T	0.194	0.28120	T	0.05	0.22331	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.455	0.36767	L	3.51	0.04959	T	-1.73	0.60188	N	0.141	0.15328	-0.9214	0.45362	T	0.005	0.01725	T	9	0.005136043	0.00111	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.1074141927531143	0.10670	0.521147091014	0.49897	0.332464814186	0.15307	T	0.001524	0.18905	T	-0.601051	0.00144	T	-0.615873	0.11513	T	0.0278578650942649	0.01668	T	0.372463	0.12997	T	0.03518133	0.04092	0.046788376	0.06597	0.03518133	0.04092	0.046788376	0.06597	-5.33	0.40239	T	.	.	0.142	0.33435	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.916082	0.12909	9.417	0.99814016910868308	0.89797	0.03359	0.08450	N	AEFBHCI	0.098848	0.19910	N	-0.859570190243696	0.11815	0.5722949	-0.925333904878234	0.11497	0.5860615	8.10275566706425E-4	0.07842	0.706298	0.61202	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.62	-1.16	0.09181	-0.221000	0.09208	-2.684000	0.03470	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.716000	0.34643	0.1307:0.2942:0.2577:0.3174	1.156	0.01685	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07895	4780.79	33	chr6	28329502	.	C	T	4780.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.2;DP=999;ExcessHet=0.3672;FS=0.523;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.557;SOR=0.633	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1171,0,1619	16	0	3	0
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M,HLA-A:NM_002116:exon5:c.G961A:p.V321M	.	3	1323	186	10	0	206	0.07223	.	.	.	1781407	.	.	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	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	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	0	0	0	1	0	0	0	0.006472	0.015152	0.001359	0.014563	0.000000	0.008621	0.006098	0.007576	0.02632	3584.33	183	chr6	29944565	.	G	A	3584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=3398;ExcessHet=0;FS=3.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=-1.379;QD=19.91;ReadPosRankSum=-0.729;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,92:180:99:0|1:29944549_G_A:3598,0,3418:29944549	18	0	1	0
chr6	30561923	30561923	C	T	exonic	PRR3	.	nonsynonymous SNV	PRR3:NM_001077497:exon2:c.C196T:p.R66W,PRR3:NM_025263:exon3:c.C259T:p.R87W	.	426	1063	33	0	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0046	0.00678914	0.0061	0.0017	0.0033	0.0169	0.0011	0.0068	0.0064	0.0036	0.005388	833	154602	rs75541627	0.0057	0.0057	0.0058	0.0057	0.0357	0.0056	0.0056	0.0342	0.0336	0.0008	0.0024	0.0075	0.0357	0.0012	0.0062	0.0053	0.0053	0.0034	0.0041	0.0041	0.0042	0.0039	0.0177	0.0038	0.0037	0.0148	0.0137	0.0013	0.0011	0.0036	0.0066	0.0177	0.0009	0.0034	0.0052	0.0066	0.0033	0.051	0.39575	T	0.021	0.61642	D	0.001	0.09854	B	0.001	0.08700	B	0.303940	0.14549	N	0.575164	0.999974	0.18612	N	0.11	0.08516	N	0.86	0.47477	T	-2.37	0.64710	N	0.24	0.29774	-1.0253	0.21985	T	0.021	0.09056	T	10	0.0036749542	0.00067	T	.	.	.	0.038	0.09825	.	.	0.236890367714	0.23314	0.1353660463522554	0.13460	0.35954593402	0.37645	0.448106825352	0.31685	T	0.078163	0.35827	T	-0.558028	0.00261	T	-0.534119	0.18878	T	0.0101226880329522	0.00136	T	.	.	.	0.069881305	0.15346	0.045393888	0.06098	0.069881305	0.15346	0.045393888	0.06098	-3.18	0.15354	T	.	.	0.084	0.14842	B	.;.	.;.	1.986593	0.25238	16.69	0.934054647915873	0.23166	0.07150	0.13175	N	AEFBCI	0.069741	0.13818	N	-0.995699639391774	0.08696	0.4086778	-0.959403942635411	0.10706	0.5409046	0.999675892065676	0.41644	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.95	-0.97	0.09780	0.029000	0.13555	.	.	-0.171000	0.11205	0.089000	0.22556	0.693000	0.26187	0.990000	0.65344	0.2929:0.287:0.131:0.2891	0.341	0.00311	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008715	0.000000	0.006793	0.005319	0.000000	0.008621	0.021341	0.007576	0.02632	950.33	33	chr6	30561923	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.794;DP=709;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.05;SOR=1.096	GT:AD:DP:GQ:PL	0/1:44,39:83:99:964,0,1027	18	0	1	0
chr6	30645938	30645938	C	T	exonic	ATAT1	.	nonsynonymous SNV	ATAT1:NM_001031722:exon11:c.C976T:p.R326C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0148907449315	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762623439	8.709e-06	1.3e-05	5.708e-06	1.181e-05	1.121e-05	4.64e-06	3.67e-06	5.98e-06	4.72e-06	0	0	0	0	0	0	1.121e-05	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000359	0.45440	D	0.154614	0.999854	0.49910	D	0.895	0.22405	L	.	.	.	-1.32	0.32991	N	0.698	0.70263	-0.5470	0.66900	T	0.253	0.62258	T	9	0.6528733	0.69704	D	0.014891	0.35296	T	0.145	0.38592	0.244	0.17830	0.439445477881	0.43565	0.5677986034683783	0.56707	1.53616481711	0.87656	0.568263173103	0.48432	T	0.041486	0.25873	T	0.172065	0.71313	D	0.00938324	0.70943	D	0.905131459236145	0.55879	D	.	.	.	0.17629868	0.38535	0.13344783	0.32000	0.17629868	0.38534	0.13344783	0.31999	-3.857	0.21659	T	.	.	0.324	0.59228	B	.;.	.;.	5.077510	0.84722	28.4	0.99902543795078447	0.97426	0.84727	0.43814	D	AEFDBI	0.483038	0.52365	N	0.540022988090211	0.69475	5.36238	0.505546278289365	0.68362	5.209705	0.999999977581042	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.83	4.83	0.61880	2.867000	0.48126	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.489	0.60839	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	856.33	37	chr6	30645938	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.017;SOR=0.585	GT:AD:DP:GQ:PL	0/1:36,36:72:99:870,0,917	18	0	1	0
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13885.3	539	chr6	31029812	.	T	*	13885.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.639;DP=12766;ExcessHet=3.116;FS=0;InbreedingCoeff=-0.1611;MLEAC=3;MLEAF=0.083;MQ=59.61;MQRankSum=-5.406;QD=2.42;ReadPosRankSum=-4.882;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,336:782:99:.:.:8167,0,14948:.	15	0	3	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	0/1:181,28:209:99:.:.:262,0,5745:.	11	0	8	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|1:24,35:59:99:0|1:31356424_C_G:1397,0,902:31356424	7	2	10	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,129:129:99:1|1:31356739_C_A:5785,388,0:31356739	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|1:0,83:169:99:0|1:31356809_C_T:7071,3586,3336:31356809	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,40:78:99:.:.:3204,1381,1465:.	12	0	7	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	0/1:0,40:78:84:.:.:1823,0,84:.	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|1:112,42:154:99:0|1:31625601_T_C:782,0,3515:31625601	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|1:112,42:154:99:0|1:31625601_T_C:782,0,3515:31625601	1	0	16	2
chr6	31865371	31865371	C	G	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon16:c.G1578C:p.K526N,SLC44A4:NM_001178045:exon17:c.G1476C:p.K492N,SLC44A4:NM_025257:exon17:c.G1704C:p.K568N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0447832954578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.022	0.58613	D	0.854	0.47077	P	0.93	0.66466	D	0.000026	0.55875	D	0.117824	0.999998	0.58761	D	2.895	0.83812	M	1.59	0.28836	T	-3.75	0.71157	D	0.575	0.61087	-0.8648	0.50915	T	0.135	0.44914	T	10	0.64299285	0.69164	D	0.044783	0.61661	D	0.252	0.56159	0.678	0.81594	0.0716867268079	0.06686	0.8031514351359627	0.80269	0.882173084537	0.69812	0.672191441059	0.63150	T	0.025851	0.19251	T	-0.105859	0.35454	T	-0.389836	0.34570	T	0.992635309696198	0.83166	D	.	.	.	0.29120803	0.52104	0.38470626	0.63405	0.29120803	0.52104	0.38470626	0.63405	-9.69	0.72035	D	.	.	0.499	0.67639	A	.;.;.;.	.;.;.;.	4.005324	0.59046	24.1	0.99837324252008464	0.91800	0.86919	0.46310	D	ALL	0.671946	0.63852	D	0.437119614404471	0.63476	4.582102	0.367040686711943	0.59539	4.132793	1.0	0.98316	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.25	4.38	0.52019	0.038000	0.13749	.	.	-0.190000	0.09434	0.911000	0.31706	0.999000	0.35428	0.940000	0.48062	0.0:0.7618:0.1554:0.0828	8.480	0.32197	906	0.23090	.;.;.;.	.	.	.	.	.	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	1800.33	41	chr6	31865371	.	C	G	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=802;ExcessHet=0;FS=1.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.293;SOR=0.859	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1814,0,1632	18	0	1	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|1:196,46:242:99:0|1:32521957_G_A:1342,0,8092:32521957	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|1:193,43:236:99:0|1:32521957_G_A:1225,0,7975:32521957	5	0	11	3
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,20:171:99:0|1:32522156_T_*:421,0,5776:32522156	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,20:170:99:0|1:32522156_T_*:424,0,5734:32522156	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,20:168:99:0|1:32522156_T_*:430,0,5630:32522156	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,16:142:99:0|1:32530183_CTT_C:283,0,5243:32530183	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	0|1:126,16:142:99:0|1:32530183_CTT_C:283,0,5243:32530183	2	5	11	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,35:219:99:0|1:32584176_CCG_C:906,0,7621:32584176	10	2	7	0
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|1:184,35:219:99:0|1:32584176_CCG_C:906,0,7621:32584176	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,81:399:99:0|1:32584366_C_T:2721,0,10375:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,44:227:99:0|1:32641430_C_T:1297,0,7552:32641430	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|1:183,44:227:99:0|1:32641430_C_T:1297,0,7552:32641430	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|1:187,42:229:99:0|1:32641430_C_T:1201,0,7693:32641430	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|1:187,42:229:99:0|1:32641430_C_T:1201,0,7693:32641430	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|1:211,44:255:99:0|1:32641487_G_C:1212,0,8727:32641487	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|1:208,52:260:99:0|1:32641487_G_C:1313,0,8537:32641487	4	4	11	0
chr6	36330116	36330116	C	T	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.G575A:p.R192H	.	424	1080	18	0	0	18	0.00826446	.	.	.	2822985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00379779117768	0.0020	0.00239617	0.0017	0.0045	0.0006	0.0012	0	0.0008	0.0011	0.0053	0.0015071	233	154602	rs41272160	0.0011	0.0011	0.0010	0.0013	0.0054	0.0011	0.0011	0.0050	0.0048	0.0041	0.0003	0.0011	0.0004	0	0.0017	0.0008	0.0018	0.0054	0.0020	0.0020	0.0019	0.0020	0.0048	0.0018	0.0017	0.0037	0.0035	0.0042	0.0197	0.0007	0.0026	0.0008	0	0	0.0009	0.0019	0.0048	0.566	0.06262	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.060311	0.02131	N	2.297830	1	0.08975	N	-0.695	0.01866	N	0.87	0.46412	T	-0.1	0.08495	N	0.114	0.10198	-1.0679	0.09880	T	0.013	0.04985	T	10	0.004160762	0.00082	T	0.003798	0.08868	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.0405871908502603	0.04004	0.0130989317714	0.01263	.	.	.	0.010059	0.09113	T	-0.680292	0.00048	T	-0.749015	0.03524	T	0.000239710886555343	0.00002	T	0.330167	0.06908	T	0.01529048	0.00131	0.020923888	0.00163	0.01529048	0.00131	0.020923888	0.00163	-4.406	0.29638	T	.	.	0.075	0.05404	B	.	.	-1.219395	0.00512	0.012	0.60335424508545332	0.06439	0.00323	0.01694	N	AEFDBHI	0.026424	0.01982	N	-1.80501725071513	0.00533	0.02294782	-1.89417482894301	0.00503	0.02227517	0.999995984963679	0.74766	0.520426	0.21595	0	0.610034	0.51514	0	0.440839	0.06518	1	0.530356	0.10902	0	.	.	2.46	-4.92	0.02848	-2.146000	0.01380	-7.661000	0.01110	-1.164000	0.01408	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1405:0.1817:0.149:0.5289	1.856	0.02985	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.000000	0.002924	0.050000	0.000000	0.000000	0.003788	0.05263	2080.83	34	chr6	36330116	.	C	T	2080.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.517;DP=768;ExcessHet=0.119;FS=0.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.955;SOR=0.782	GT:AD:DP:GQ:PL	0/1:38,32:70:99:724,0,973	17	0	2	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D,DNAH8:NM_001206927:exon36:c.G4908T:p.E1636D	.	437	1043	40	2	0	44	0.0206573	.	.	YES	239918	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014602	0.020202	0.009511	0.017544	0.050000	0.008621	0.024390	0.018939	0.02632	1141.33	33	chr6	38845636	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=767;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-1.319;SOR=0.589	GT:AD:DP:GQ:PL	0/1:80,53:133:99:1155,0,1899	18	0	1	0
chr6	41033146	41033146	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon4:c.C687A:p.S229R	.	.	.	.	.	.	.	.	0.0002	0.206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	4.104e-06	1.363e-06	4.133e-06	1.162e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	1.66e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.9	0.49598	P	0.462	0.46509	P	0.000024	0.55875	D	0.000000	0.913981	0.36487	D	2.24	0.63355	M	2.29	0.17113	T	-2.36	0.52128	N	0.924	0.93018	-0.9835	0.34187	T	0.014	0.05657	T	10	0.84640175	0.83807	D	0.010059	0.26146	T	0.235	0.53788	0.739	0.87147	0.432826170204	0.42904	0.7541089806066102	0.75357	0.610670217774	0.55743	0.625477015972	0.56503	T	0.062728	0.31992	T	0.13815	0.68149	D	-0.0393341	0.67746	D	0.957344949245453	0.64987	D	0.736326	0.35288	T	0.43813124	0.63281	0.30036682	0.56070	0.43813124	0.63282	0.30036682	0.56069	-9.787	0.72626	D	.	.	0.991	0.94060	P	.;.	.;.	3.211949	0.43726	21.8	0.99714443515835816	0.81563	0.83488	0.42602	D	AEFDBI	0.226288	0.35026	N	-0.058569496336945	0.39219	2.309392	-0.0483572666063465	0.37562	2.200937	0.998355869229198	0.36814	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.43	0.307	0.15057	0.398000	0.20624	2.257000	0.31732	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.4848:0.0:0.5152:0.0	8.197	0.30563	452	0.79239	ZU5 domain;ZU5 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	901.33	35	chr6	41033146	.	G	T	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=723;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.525;SOR=1.161	GT:AD:DP:GQ:PL	0/1:46,35:81:99:915,0,1246	18	0	1	0
chr6	41043636	41043636	G	C	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon3:c.G253C:p.V85L,TSPO2:NM_001159726:exon3:c.G253C:p.V85L	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00234297893453	0.0017	0.00179712	0.0020	0.0015	0.0027	0	0.0003	0.0021	0.0045	0.0033	0.0019922	308	154602	rs147485285	0.0023	0.0023	0.0023	0.0024	0.0038	0.0023	0.0023	0.0035	0.0033	0.0007	0.0025	0.0010	0	0.0002	0.0038	0.0025	0.0025	0.0038	0.0017	0.0017	0.0017	0.0018	0.0031	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0014	0.0006	0	0.0002	0.0102	0.0028	0.0014	0.0031	0.898	0.02436	T	0.703	0.05663	T	0.0	0.02946	B	0.001	0.04355	B	0.069162	0.02229	N	1.955430	1	0.08975	N	1.15	0.29295	L	1.03	0.40469	T	-0.85	0.23156	N	0.106	0.09772	-1.0850	0.06407	T	0.019	0.07893	T	10	0.0064745545	0.00147	T	0.002343	0.04535	T	0.090	0.26093	.	.	0.166414681773	0.16258	0.2332732126691424	0.23242	0.259490706141	0.28504	0.294637024403	0.09603	T	0.012599	0.11043	T	-0.644177	0.00079	T	-0.700828	0.05781	T	0.033278826624155	0.02518	T	0.523548	0.17131	T	0.0381984	0.05044	0.046442296	0.06473	0.0381984	0.05044	0.046442296	0.06473	-2.839	0.08548	T	.	.	0.109	0.25914	B	.;.	.;.	0.374296	0.07463	4.102	0.74768250829263816	0.10819	0.04048	0.09492	N	AEFDI	0.101413	0.20368	N	-1.37152377689438	0.02908	0.129119	-1.37605386298669	0.03509	0.1638203	0.999661792004702	0.41534	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.71	-3.3	0.04692	0.086000	0.14780	1.033000	0.23495	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.3381:0.2841:0.1921:0.1857	0.638	0.00754	469	0.78175	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	1095.33	42	chr6	41043636	.	G	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.694;DP=747;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.517;SOR=0.536	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1109,0,1167	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:92,54:146:99:198,0,1464	8	0	8	3
chr6	46587162	46587162	G	A	exonic	CYP39A1	.	nonsynonymous SNV	CYP39A1:NM_001278739:exon9:c.C649T:p.R217C,CYP39A1:NM_001278738:exon10:c.C1105T:p.R369C,CYP39A1:NM_016593:exon10:c.C1165T:p.R389C	.	434	1074	12	2	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.969	0.492592502326	0.0011	0.000199681	0.0015	0	0.0003	0.0001	0	0.0017	0	0.0037	0.001022	158	154602	rs141809814	0.0007	0.0008	0.0006	0.0009	0.0036	0.0007	0.0007	0.0032	0.0031	6.005e-05	0.0004	0.0094	2.527e-05	1.883e-05	0.0031	0.0004	0.0013	0.0036	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	4.82e-05	0	0.0007	0.0109	0	9.454e-05	0	0.0006	0.0009	0.0025	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.785	0.81254	M	-4.3	0.97172	D	-7.53	0.95131	D	0.984	0.99337	1.091	0.99295	D	0.966	0.98907	D	10	0.12622187	0.23994	T	0.492593	0.95023	D	0.969	0.99622	.	.	0.976959273625	0.97671	0.9304559729975352	0.93024	0.316271458439	0.33892	0.530950367451	0.43168	T	0.330005	0.70024	T	0.225843	0.76328	D	0.550159	0.95619	D	0.158181583346134	0.17736	T	0.966103	0.87544	D	0.83306134	0.86117	0.8460373	0.91239	0.83306134	0.86118	0.8460373	0.91239	-11.596	0.82827	D	.	.	0.342	0.69538	A	.;.	.;.	5.781741	0.93528	33	0.99931661039732522	0.99387	0.97624	0.75980	D	AEFI	0.958526	0.97836	D	1.02890515527548	0.96566	14.85402	0.976231845598325	0.98112	17.45599	0.999990547598924	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.961000	0.87447	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.301	0.98613	636	0.64483	.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	375.33	37	chr6	46587162	.	G	A	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.561;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.653;SOR=0.671	GT:AD:DP:GQ:PL	0/1:25,18:43:99:389,0,570	18	0	1	0
chr6	52897932	52897932	A	C	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon5:c.T289G:p.Y97D,GSTA3:NM_000847:exon6:c.T439G:p.Y147D	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.00197295037078	0.0002	0.000399361	0.0003	9.61e-05	0	0.0001	0	0.0003	0	0.0005	0.000207	32	154602	rs144126679	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	4.472e-05	0.0002	0	0	0.0014	0.0001	0.0002	0.0003	7.882e-05	7.874e-05	6.426e-05	9.404e-05	0.0008	4.495e-05	3.511e-05	0.0003	0.0002	4.813e-05	0	6.543e-05	0	0	0	0	7.352e-05	0	0.0008	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.951	0.68939	D	0.000277	0.46590	D	0.148621	0.913761	0.36482	D	4.125	0.97446	H	3.05	0.08721	T	-7.87	0.96114	D	0.846	0.84401	-1.0435	0.16265	T	0.057	0.24018	T	10	0.60240614	0.66986	D	0.001973	0.03535	T	0.243	0.54921	.	.	0.378148810121	0.37422	0.5544063550790178	0.55367	0.309725696324	0.33285	0.512154340744	0.40523	T	0.319616	0.69089	T	-0.0718151	0.41035	T	-0.0247778	0.68714	D	0.90221381187439	0.55512	D	0.60194	0.23293	T	0.94960755	0.96226	0.9170829	0.96192	0.94960755	0.96226	0.9170829	0.96192	-13.702	0.92048	D	.	.	0.717	0.76277	P	.;.	.;.	4.532902	0.71174	25.6	0.99082462317059838	0.52002	0.94431	0.61144	D	AEFBI	0.416587	0.48498	N	0.442604590328218	0.63783	4.619001	0.234393847534569	0.51765	3.356355	1.97572822800814E-5	0.02871	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.91	2.73	0.31266	4.657000	0.61185	5.815000	0.50038	0.756000	0.94297	0.990000	0.36992	0.593000	0.25680	0.462000	0.28163	0.9088:0.0:0.0912:0.0	9.043	0.35492	503	0.75780	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-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	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	2753.33	33	chr6	52897932	.	A	C	2753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=874;ExcessHet=0;FS=2.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.254;SOR=0.734	GT:AD:DP:GQ:PL	0/1:125,123:248:99:2767,0,3003	18	0	1	0
chr6	69361426	69361426	A	C	exonic	ADGRB3	.	nonsynonymous SNV	ADGRB3:NM_001704:exon29:c.A4153C:p.K1385Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0153692702956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420181695	2.053e-06	2.052e-06	0	4.128e-06	2.52e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	0	0	2.319e-05	6.581e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.474	0.12878	T	0.552	0.12597	T	0.058	0.22967	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	0.999977	0.58761	D	.	.	.	3.19	0.07353	T	-0.76	0.24244	N	0.732	0.78356	-1.0470	0.15246	T	0.030	0.12760	T	10	0.4570884	0.59056	T	0.015369	0.36062	T	0.250	0.55888	0.218	0.13932	0.043077524339	0.03247	0.2903169824975385	0.28944	0.133698553971	0.15057	0.859260678291	0.91002	D	0.040752	0.25632	T	-0.208047	0.19654	T	-0.367494	0.37182	T	0.419867992401123	0.29686	T	0.963604	0.86445	D	0.28465393	0.51491	0.27794838	0.53751	0.28465393	0.51491	0.27794838	0.53750	-3.074	0.11000	T	.	.	0.327	0.68743	B	.;.;.	.;.;.	3.744823	0.53647	23.4	0.9436714235090593	0.24730	0.98829	0.87402	D	AEFI	0.934648	0.92833	D	0.404517951327582	0.61670	4.371264	0.524449121741357	0.69640	5.389252	0.991783047732527	0.32608	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	8.947000	0.92735	11.170000	0.87939	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.197	0.81846	630	0.65016	.;.;.	.	.	.	.	.	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	1946.33	43	chr6	69361426	.	A	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=908;ExcessHet=0;FS=2.468;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-2.156;SOR=0.714	GT:AD:DP:GQ:PL	0/1:124,80:204:99:1960,0,2987	18	0	1	0
chr6	76002938	76002938	C	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon11:c.G1037A:p.G346E,IMPG1:NM_001563:exon12:c.G1271A:p.G424E	Macular dystrophy, vitelliform, 4, Autosomal dominant	427	1093	2	0	0	2	0.000914077	.	.	.	1155496	Retinal_dystrophy|not_provided	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|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	7.7e-05	0.00638978	0.0022	0	8.767e-05	0.0277	0	9.032e-05	0.0022	0.0007	0.0019663	304	154602	rs78195046	0.0007	0.0007	0.0007	0.0007	0.0222	0.0007	0.0007	0.0209	0.0204	2.989e-05	4.475e-05	0	0.0222	0	0.0007	3.239e-05	0.0012	0.0011	0.0010	0.0010	0.0009	0.0011	0.0272	0.0009	0.0008	0.0236	0.0222	0	0	0.0001	0	0.0272	0	0	1.47e-05	0.0005	0.0012	0.227	0.18498	T	1.0	0.01155	T	0.294	0.32391	B	0.038	0.23361	B	0.684229	0.10232	N	0.866775	1	0.08975	N	0.55	0.14455	N	2.18	0.18875	T	0.4	0.03463	N	0.134	0.13055	-0.9417	0.42346	T	0.005	0.01615	T	10	0.0036269426	0.00066	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.16163432213308476	0.16084	0.0141905182625	0.01351	0.243398070335	0.03104	T	4.29E-4	0.00140	T	-0.720616	0.00027	T	-0.786941	0.02250	T	0.0076277048888504	0.00089	T	0.458554	0.13215	T	0.036380988	0.04465	0.059906296	0.11322	0.04106266	0.05977	0.047333952	0.06794	-3.093	0.11216	T	.	.	0.064	0.02257	B	.;.	.;.	0.150518	0.05428	1.901	0.30274397742748954	0.01647	0.02876	0.07652	N	AEFI	0.050753	0.08902	N	-1.28906867743551	0.03806	0.1706793	-1.27185220229912	0.04815	0.2280374	8.56313197582046E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	0.901	0.18416	-0.170000	0.09886	-0.566000	0.08452	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1539:0.5045:0.1504:0.1911	2.153	0.03573	380	0.83728	.;.	.	.	.	.	.	Likely benign	0	0	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	1048.33	33	chr6	76002938	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.451;DP=736;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.498;SOR=0.602	GT:AD:DP:GQ:PL	0/1:65,47:112:99:1062,0,1533	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,23:68:99:0|1:80007990_G_C:580,0,1742:80007990	4	0	10	5
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7038.11	53	chr6	80007991	.	AGTTTT	A	7038.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,24:71:99:0|1:80007990_G_C:600,0,1770:80007990	15	0	4	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,23:66:99:1|0:80007990_G_C:705,0,1669:80007990	1	0	11	7
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	2295.91	21	chr6	80007996	.	T	TCCCCC	2295.91	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,23:68:99:0|1:80007990_G_C:564,0,1724:80007990	7	0	4	8
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	0/1:77,56:133:99:1150,0,1731	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	0/1:50,21:76:26:.:.:26,0,582:.	6	0	9	4
chr6	106521245	106521245	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G2813A:p.R938Q,CRYBG1:NM_001371242:exon4:c.G4037A:p.R1346Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	2721183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0207242581316	.	0.000199681	0.0002	0	0	0	0	5.997e-05	0	0.0010	0.0001488	23	154602	rs533984443	8.415e-05	8.482e-05	4.629e-05	0.0001	0.0014	7.204e-05	6.751e-05	0.0007	0.0006	0	6.715e-05	0	0	0	0.0014	3.058e-05	0.0001	0.0008	5.253e-05	5.25e-05	2.57e-05	8.057e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.989e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0006	0.796	0.03150	T	0.695	0.05825	T	0.026	0.19406	B	0.001	0.04355	B	0.035439	0.01802	N	2.005430	1	0.08975	N	.	.	.	-0.59	0.71543	T	0.06	0.06253	N	0.101	0.08366	-0.9969	0.30783	T	0.071	0.28839	T	10	0.011152446	0.00245	T	0.020724	0.43370	T	0.130	0.35528	0.137	0.04097	0.376745185316	0.37282	0.16236669328791242	0.16156	0.0961814065405	0.10851	0.179782688618	0.00092	T	0.003754	0.03161	T	-0.502288	0.00555	T	-0.579784	0.14565	T	0.0188529453861857	0.00596	T	0.769823	0.39947	T	0.024019854	0.01194	0.029655674	0.01328	0.024019854	0.01193	0.029655674	0.01328	-2.918	0.09324	T	.	.	0.071	0.03925	B	.;.	.;.	0.385964	0.07578	4.233	0.94236536917203162	0.24498	0.01805	0.05629	N	AEFGBHCI	0.042459	0.06590	N	-1.16705077320391	0.05505	0.2511356	-1.16547056946295	0.06495	0.3128043	0.999999999886556	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	-2.73	0.05599	-0.006000	0.12769	-0.962000	0.06776	0.676000	0.76740	0.016000	0.19238	0.000000	0.08366	0.678000	0.33484	0.6713:0.0:0.3287:0.0	12.323	0.54317	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2128.33	39	chr6	106521245	.	G	A	2128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=846;ExcessHet=0;FS=0.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-2.201;SOR=0.608	GT:AD:DP:GQ:PL	0/1:71,82:153:99:2142,0,1603	18	0	1	0
chr6	118913414	118913414	T	C	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378356:exon6:c.A911G:p.N304S,MCM9:NM_001378360:exon6:c.A911G:p.N304S,MCM9:NM_001378364:exon6:c.A911G:p.N304S,MCM9:NM_001378365:exon6:c.A911G:p.N304S,MCM9:NM_153255:exon6:c.A911G:p.N304S,MCM9:NM_001378357:exon7:c.A911G:p.N304S,MCM9:NM_001378358:exon7:c.A911G:p.N304S,MCM9:NM_001378359:exon7:c.A911G:p.N304S,MCM9:NM_001378362:exon7:c.A713G:p.N238S,MCM9:NM_017696:exon7:c.A911G:p.N304S,MCM9:NM_001378361:exon8:c.A713G:p.N238S,MCM9:NM_001378363:exon8:c.A713G:p.N238S,MCM9:NM_001378367:exon8:c.A713G:p.N238S	Ovarian dysgenesis 4, Autosomal recessive	436	1068	18	0	0	18	0.00835655	.	.	.	610456	MCM9-related_disorder|Premature_ovarian_failure|Premature_ovarian_insufficiency|not_provided	.|MONDO:MONDO:0005387,MedGen:C0085215|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.299	0.0537383397236	0.0033	0.00259585	0.0033	0.0014	0.0024	0	0.0003	0.0051	0.0067	0.0009	0.0035511	549	154602	rs78231991	0.0044	0.0044	0.0045	0.0044	0.0108	0.0044	0.0043	0.0086	0.0078	0.0018	0.0030	0.0048	2.519e-05	0.0017	0.0108	0.0050	0.0046	0.0016	0.0034	0.0034	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0047	0.0010	0	0.0037	0.0069	0	0.0013	0.0272	0.0053	0.0057	0.0017	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.515	0.73286	M	3.32	0.06214	T	-4.5	0.78135	D	0.862	0.86511	-1.1239	0.02099	T	0.034	0.14813	T	9	0.02570036	0.00756	T	0.053738	0.65585	D	0.299	0.61955	.	.	0.551593237191	0.54816	0.5811628966577782	0.58045	0.490733214644	0.47783	0.563575088978	0.47772	T	0.442876	0.78688	T	-0.474614	0.00796	T	-0.450801	0.27609	T	0.0149103310604085	0.00317	T	0.914909	0.69682	D	0.43263128	0.62924	0.4806357	0.69922	0.48846358	0.66412	0.5463006	0.73774	-11.947	0.85769	D	.	.	0.251	0.48857	B	.;.;.	.;.;.	3.844313	0.55645	23.6	0.9987237866416947	0.94989	0.99732	0.99045	D	AEFGBHI	0.878345	0.80356	D	0.748846211035157	0.82829	7.860527	0.753974697959786	0.86454	8.894184	0.999999996771299	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	5.84	5.84	0.93373	7.674000	0.83146	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.211	0.81977	489	0.76795	MCM domain|MCM domain;MCM domain|MCM domain;MCM domain|MCM 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	0.007553	0.010101	0.016304	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1028.33	34	chr6	118913414	.	T	C	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=710;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.735;SOR=0.832	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1042,0,1109	18	0	1	0
chr6	119003573	119003573	A	G	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon8:c.T1505C:p.M502T,FAM184A:NM_001288576:exon8:c.T1505C:p.M502T,FAM184A:NM_024581:exon8:c.T1865C:p.M622T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00623705217408	.	.	8.48e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs758614955	1.438e-05	1.436e-05	1.226e-05	1.652e-05	0.0007	9.24e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.08e-05	8.292e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.381	0.13610	T	0.672	0.08594	T	0.082	0.24665	B	0.049	0.25116	B	0.000004	0.62929	D	0.142935	0.953122	0.37816	D	1.415	0.35607	L	1.58	0.29085	T	-0.77	0.31576	N	0.417	0.50056	-1.0735	0.08660	T	0.038	0.16203	T	10	0.17974222	0.33124	T	0.006237	0.16376	T	0.095	0.27398	0.075	0.00517	0.520854953866	0.51730	0.41155916671250126	0.41071	0.191164616582	0.21440	0.427733838558	0.28899	T	0.020849	0.19649	T	-0.202741	0.20411	T	-0.465354	0.26018	T	0.183273570144626	0.19439	T	0.779122	0.41282	T	0.1698728	0.37529	0.15904947	0.37112	0.1698728	0.37528	0.15904947	0.37111	-7.997	0.61050	D	.	.	0.199	0.42332	B	.;.;.;.;.	.;.;.;.;.	1.950314	0.24774	16.52	0.91931808556677719	0.21256	0.92856	0.56713	D	AEFI	0.696755	0.65499	D	-0.116562087426707	0.36672	2.122849	0.0513365945420177	0.42136	2.543438	0.628682267246206	0.21949	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.598000	0.60777	8.112000	0.76595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	1.0:0.0:0.0:0.0	16.628	0.84839	643	0.63827	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1851.33	35	chr6	119003573	.	A	G	1851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=774;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=3.3;SOR=0.601	GT:AD:DP:GQ:PL	0/1:65,79:144:99:1865,0,1456	18	0	1	0
chr6	121281591	121281591	T	C	exonic	TBC1D32	.	nonsynonymous SNV	TBC1D32:NM_001367760:exon14:c.A1561G:p.I521V,TBC1D32:NM_152730:exon14:c.A1561G:p.I521V,TBC1D32:NM_001367759:exon15:c.A1561G:p.I521V	.	454	1065	3	0	0	3	0.00140647	.	.	.	2142262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00251110710145	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001552	24	154602	rs201680026	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	9.027e-05	0.0002	7.691e-05	0	1.875e-05	0.0026	0.0001	0.0003	5.848e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0004	0	0	0	0	0.0003	0	0	0.343	0.12592	T	0.138	0.33780	T	0.016	0.17332	B	0.014	0.16862	B	0.023849	0.26367	N	0.428681	0.999999	0.08975	N	0.855	0.21307	L	1.99	0.21666	T	-0.34	0.12661	N	0.143	0.14338	-0.9301	0.44124	T	0.010	0.03856	T	10	0.02845192	0.00977	T	0.002511	0.05009	T	0.023	0.04649	.	.	0.258779203287	0.25495	0.12932196686837835	0.12857	0.0340966757604	0.03582	.	.	.	0.052911	0.29296	T	-0.519916	0.00440	T	-0.687041	0.06562	T	0.0136535455180337	0.00254	T	0.630737	0.24588	T	0.02943644	0.02437	0.039812546	0.04160	0.02943644	0.02437	0.039812546	0.04160	-5.305	0.39993	T	.	.	0.075	0.05668	B	.;.	.;.	1.166390	0.15557	11.94	0.83327331716363406	0.14665	0.40222	0.26388	N	AEFI	0.050166	0.08742	N	-0.928008160312419	0.10191	0.485827	-0.85098674518066	0.13264	0.6871158	1.01779871517259E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.53	-1.16	0.09181	0.811000	0.26855	0.019000	0.13561	-0.194000	0.09177	0.989000	0.36753	0.013000	0.20296	0.982000	0.59238	0.0:0.4095:0.0:0.5905	9.481	0.38064	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	0.003525	0.000000	0.000000	0.008772	0.000000	0.025862	0.003049	0.000000	0.02632	1365.33	33	chr6	121281591	.	T	C	1365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.812;SOR=0.631	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1379,0,1357	18	0	1	0
chr6	134996868	134996868	T	G	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon6:c.A748C:p.M250L,HBS1L:NM_006620:exon7:c.A874C:p.M292L,HBS1L:NM_001363686:exon8:c.A382C:p.M128L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.024701962759	7.7e-05	.	1.651e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs376809373	4.796e-06	5.472e-06	4.09e-06	5.509e-06	2.262e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.262e-05	3.834e-05	0	0	0	4.5e-06	0	0	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	0.116	0.38185	T	0.207	0.28860	T	0.988	0.62325	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.12	0.08593	N	-0.45	0.69896	T	-1.33	0.50012	N	0.581	0.65844	-0.4087	0.71752	T	0.215	0.57666	T	10	0.5515336	0.64283	D	0.024702	0.47687	T	0.525	0.79886	0.608	0.74063	0.501599654644	0.49796	0.7542403838174591	0.75371	0.15611858945	0.17621	0.822214007378	0.85368	D	0.07943	0.36125	T	0.167468	0.70891	D	0.0182661	0.71518	D	0.39722777205298	0.28838	T	0.933007	0.74900	D	0.26872414	0.49944	0.2648814	0.52314	0.26872414	0.49944	0.2648814	0.52313	-8.153	0.62108	D	.	.	0.267	0.63731	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.247527	0.64452	24.7	0.97587368363552651	0.34769	0.99252	0.93473	D	AEFBI	0.898643	0.84216	D	0.589842935872527	0.72541	5.82184	0.672637286246117	0.80308	7.269806	0.999999926689528	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.95	5.95	0.96415	7.971000	0.87616	7.856000	0.71202	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.429	0.83672	891	0.26808	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-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	.	.	.	.	.	.	.	.	0.02632	1803.33	33	chr6	134996868	.	T	G	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.36;SOR=0.681	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1817,0,1464	18	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	61.54	35	chr6	149378547	.	A	G	61.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.414;DP=1326;ExcessHet=0.119;FS=171.797;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.368;SOR=10.15	GT:AD:DP:GQ:PL	0/1:191,62:253:74:74,0,3749	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	0/1:118,50:175:99:123,0,2456	10	0	5	4
chr6	158980930	158980930	G	A	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon4:c.C841T:p.R281C,RSPH3:NM_031924:exon6:c.C703T:p.R235C	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	563465	Primary_ciliary_dyskinesia_32	MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.157207890493	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778108869	4.105e-06	4.104e-06	4.084e-06	4.126e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.57480	D	0.033	0.56640	D	0.998	0.73220	D	0.833	0.59784	P	0.000000	0.84330	D	0.048132	0.999982	0.54805	D	2.925	0.84406	M	1.56	0.29602	T	-7.25	0.94352	D	0.491	0.52475	-0.8842	0.49423	T	0.138	0.45564	T	10	0.58705133	0.66170	D	0.157208	0.83784	D	0.270	0.58507	0.621	0.75576	0.402471007487	0.39861	0.7296088505667317	0.72905	1.13581973304	0.78781	0.546564936638	0.45372	T	0.458877	0.79668	T	-0.0410284	0.45797	T	-0.281225	0.46680	T	0.986490964889526	0.77198	D	0.954705	0.82752	D	0.4479487	0.63911	0.394884	0.64170	0.4479487	0.63912	0.394884	0.64170	-10.406	0.76305	D	.	.	0.332	0.63061	B	.;.;.	.;.;.	4.969890	0.82239	27.7	0.99915462083022843	0.98379	0.91399	0.53455	D	AEFBI	0.636356	0.61553	D	0.518962029785914	0.68213	5.186137	0.423590809277725	0.63039	4.529879	0.0326481020757248	0.14064	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	5.118000	0.64511	8.517000	0.77410	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0796:0.0:0.9204:0.0	12.666	0.56208	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	0	0	.	.	.	.	.	.	.	.	0.02632	994.33	33	chr6	158980930	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.665;SOR=0.808	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1008,0,1029	18	0	1	0
chr6	160139798	160139798	A	G	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon7:c.A1207G:p.I403V,SLC22A1:NM_153187:exon7:c.A1207G:p.I403V	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00499201	0.0030	0	8.643e-05	0	0	0.0001	0	0.0220	0.0026778	414	154602	rs188898744	0.0013	0.0014	0.0008	0.0019	0.0208	0.0013	0.0013	0.0200	0.0196	0	0.0002	0	0	1.878e-05	0.0023	8.492e-05	0.0012	0.0208	0.0008	0.0008	0.0004	0.0013	0.0237	0.0007	0.0007	0.0201	0.0188	2.41e-05	0	0.0001	0	0.0002	0	0	8.822e-05	0.0009	0.0237	0.191	0.29288	T	0.033	0.53072	D	0.001	0.11197	B	0.008	0.19048	B	0.020525	0.27020	N	0.408418	0.959119	0.26198	N	1.74	0.45129	L	-0.79	0.73739	T	-0.2	0.10136	N	0.146	0.15328	-0.9235	0.45070	T	0.135	0.44875	T	10	0.00610435	0.00137	T	.	.	.	0.110	0.31079	.	.	0.18274738541	0.17906	0.19491478112056174	0.19409	0.112006413373	0.12634	0.269620478153	0.06091	T	0.125552	0.45134	T	-0.499311	0.00577	T	-0.473746	0.25114	T	0.0218250349772305	0.00889	T	0.670533	0.27914	T	0.021282468	0.00722	0.04084549	0.04509	0.021282468	0.00722	0.04084549	0.04509	-4.049	0.24534	T	.	.	0.115	0.23465	B	.;.;.;.	.;.;.;.	0.627846	0.09964	6.719	0.73112172632511141	0.10211	0.33331	0.24802	N	AEFDBCI	0.886012	0.81703	D	-0.996703477929731	0.08673	0.4075935	-1.01720211331761	0.09407	0.4678425	0.999999739744348	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.08	-0.752	0.10514	1.525000	0.35560	-0.135000	0.11577	-0.145000	0.12313	0.054000	0.21560	0.000000	0.08366	0.003000	0.05239	0.5589:0.3502:0.091:0.0	11.101	0.47393	529	0.73716	Major facilitator superfamily domain|Major facilitator superfamily domain;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	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	2054.83	44	chr6	160139798	.	A	G	2054.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=1025;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.011;SOR=0.676	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1215,0,761	17	0	2	0
chr6	167951202	167951204	AAG	-	exonic	AFDN	.	nonframeshift deletion	AFDN:NM_001207008:exon28:c.3776_3778del:p.E1261del,AFDN:NM_001040000:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001291964:exon29:c.3704_3706del:p.E1237del,AFDN:NM_001366319:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001366320:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001366321:exon29:c.3806_3808del:p.E1271del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.422e-06	1.368e-06	1.404e-06	1.44e-06	1.838e-06	2.4e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.838e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1918.29	34	chr6	167951201	.	CAAG	C	1918.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=718;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=0.108;SOR=0.542	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1932,0,2198	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|1:51,35:86:99:1|0:170561925_A_ACAG:972,0,1576:170561925	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	0/1:10,10:20:43:.:.:43,0,137:.	2	0	16	1
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	0/1:14,14:28:99:320,0,330	17	0	2	0
chr7	1236463	1236463	T	G	exonic	UNCX	.	nonsynonymous SNV	UNCX:NM_001080461:exon3:c.T1082G:p.F361C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	0.739850219086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1037485840	8.947e-06	1.026e-05	9.631e-06	8.244e-06	1.003e-05	4.8e-06	3.51e-06	5.07e-06	3.7e-06	0	0	0	0	0	0	1.003e-05	2.054e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.17	0.30436	T	0.947	0.53479	P	0.322	0.41795	B	.	.	.	.	0.988068	0.24451	N	1.39	0.34934	L	-3.29	0.93740	D	-1.76	0.41618	N	0.377	0.41853	-0.2118	0.77367	T	0.601	0.85821	D	9	0.39762574	0.55340	T	0.73985	0.97915	D	0.450	0.75074	0.455	0.51938	0.562243038683	0.55887	0.38356013354928886	0.38271	.	.	0.932374715805	0.99116	D	0.218564	0.58132	T	0.107286	0.65069	D	-0.0836679	0.64635	T	0.207260893564138	0.20809	T	0.467953	0.13790	T	0.20600918	0.42761	0.24071789	0.49452	0.20600918	0.42761	0.24071789	0.49451	-3.817	0.21059	T	.	.	0.763	0.75626	P	.	.	3.546609	0.49836	22.8	0.82636086648561102	0.14295	0.84430	0.43512	D	AEFDBHCI	0.069260	0.13700	N	-0.0986167030319703	0.37452	2.17919	-0.124445878886629	0.34406	1.978821	0.895248652873399	0.25949	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.17	1.96	0.25203	0.914000	0.28246	5.618000	0.49075	0.470000	0.21925	0.779000	0.29461	1.000000	0.68203	0.745000	0.35611	0.211:0.0:0.0:0.789	6.725	0.22537	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	.	.	.	.	.	.	.	.	0.02632	796.33	33	chr7	1236463	.	T	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=1.08;SOR=0.712	GT:AD:DP:GQ:PL	0/1:63,41:104:99:810,0,1320	18	0	1	0
chr7	1547024	1547024	-	CCA	exonic	TMEM184A	.	nonframeshift insertion	TMEM184A:NM_001097620:exon9:c.1169_1170insTGG:p.G392_S393insG	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4402	.	0.0006	0	0.0003	0	0	0.0010	0.0025	6.193e-05	0.000414	64	154602	rs747205009	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.985e-05	0.0002	3.844e-05	0	2.134e-05	0.0006	0.0006	0.0004	0.0002	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	9.662e-05	0	0.0007	0	0	0	0.0032	0.0009	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2110.29	59	chr7	1547024	.	G	GCCA	2110.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=1305;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=-1.223;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,55:108:99:0|1:1547024_G_GCCA:2124,0,2060:1547024	18	0	1	0
chr7	5926375	5926377	TTC	-	exonic	RSPH10B;RSPH10B2	.	nonframeshift deletion	RSPH10B2:NM_001099697:exon21:c.2604_2606del:p.K870del,RSPH10B:NM_173565:exon21:c.2604_2606del:p.K870del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.00299521	0.0019	0.0085	0.0005	0.0004	0.0008	0.0009	0	0.0027	0.0008538	132	154602	rs573685130	0.0005	0.0006	0.0005	0.0006	0.0039	0.0005	0.0005	0.0033	0.0031	0.0039	0.0003	0.0026	0.0017	3.837e-05	0.0009	0.0002	0.0008	0.0019	0.0012	0.0014	0.0013	0.0011	0.0032	0.0010	0.0010	0.0027	0.0025	0.0032	0	0.0002	0.0024	0.0012	0.0002	0	0.0003	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031250	0.035714	0.026836	0.037975	0.000000	0.027778	0.039823	0.022727	0.02632	723.29	41	chr7	5926374	.	TTTC	T	723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=10.48;ReadPosRankSum=1.74;SOR=0.184	GT:AD:DP:GQ:PL	0/1:48,21:69:99:737,0,1938	18	0	1	0
chr7	20158325	20158325	T	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.A2036T:p.E679V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0298326516708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.051	0.47828	T	0.883	0.48537	P	0.368	0.43478	B	0.000003	0.62929	D	0.136950	0.99807	0.44481	D	2.635	0.77114	M	1.35	0.34648	T	-3.16	0.64246	D	0.372	0.42149	-0.9316	0.43903	T	0.117	0.41187	T	10	0.2890139	0.46483	T	0.029833	0.52270	D	0.102	0.29158	0.264	0.20946	0.283761946502	0.27984	0.3230106714775684	0.32214	0.0720758104395	0.08078	0.309594452381	0.11846	T	0.046563	0.27461	T	-0.0723116	0.40957	T	-0.341647	0.40157	T	0.958733201026917	0.65348	D	0.762724	0.38847	T	0.22176361	0.44760	0.20196064	0.44201	0.22176361	0.44760	0.20196064	0.44200	-5.204	0.38982	T	.	.	0.157	0.34689	B	.;.;.	.;.;.	3.661520	0.52017	23.2	0.98903330883511165	0.48235	0.97743	0.76812	D	AEFBI	0.804244	0.72916	D	0.348967358621701	0.58686	4.042279	0.357831462379563	0.58980	4.072275	0.999999640354017	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	5.62	5.62	0.85714	5.073000	0.64223	6.198000	0.54856	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:0.0:1.0	15.810	0.78327	844	0.36711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1868.33	33	chr7	20158325	.	T	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.952;DP=737;ExcessHet=0;FS=2.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.6;SOR=0.509	GT:AD:DP:GQ:PL	0/1:50,71:121:99:1882,0,1269	18	0	1	0
chr7	21429506	21429506	A	G	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon3:c.A290G:p.E97G,SP4:NM_003112:exon3:c.A341G:p.E114G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00803995899921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.459	0.12632	T	0.079	0.24468	B	0.025	0.20508	B	0.000003	0.62929	D	0.102142	0.995289	0.42623	D	0.785	0.19527	N	2.89	0.10196	T	0.21	0.04776	N	0.416	0.45615	-0.9344	0.43485	T	0.154	0.48430	T	10	0.2059994	0.36845	T	0.00804	0.21316	T	0.093	0.26882	0.096	0.01287	0.0934897674506	0.08844	0.33968587939884365	0.33881	0.0504775060377	0.05541	0.570660710335	0.48771	T	0.166725	0.51307	T	-0.180744	0.23625	T	-0.497403	0.22619	T	0.877814710140228	0.52773	D	0.828317	0.49240	T	0.14926556	0.34037	0.17624973	0.40146	0.14926556	0.34037	0.17624973	0.40145	-2.599	0.06496	T	.	.	0.173	0.37895	B	.;.	.;.	3.776235	0.54268	23.5	0.99451278216093142	0.65274	0.93896	0.59505	D	AEFBCI	0.761979	0.69953	D	0.211752953348095	0.51767	3.355538	0.304430363332128	0.55800	3.742778	0.999999734972541	0.74766	0.653281	0.48532	0	0.516746	0.08562	0	0.694767	0.63188	0	0.669	0.65921	0	.	.	4.46	4.46	0.53567	7.000000	0.76045	11.250000	0.90713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.927	0.63476	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	2620.33	42	chr7	21429506	.	A	G	2620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=1047;ExcessHet=0;FS=1.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.473;SOR=0.546	GT:AD:DP:GQ:PL	0/1:88,107:195:99:2634,0,2138	18	0	1	0
chr7	21599938	21599938	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon15:c.C2819T:p.P940L	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2882539	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.141	0.0039858841766	.	.	5.903e-05	0	8.876e-05	0	0	1.526e-05	0	0.0003	5.17e-05	8	154602	rs772478778	1.369e-05	1.368e-05	1.362e-05	1.376e-05	6.958e-05	8.94e-06	7.27e-06	2.996e-05	2.038e-05	2.988e-05	6.719e-05	0	0	0	0	8.096e-06	1.657e-05	6.958e-05	1.975e-05	1.972e-05	2.574e-05	1.348e-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	0.449	0.09022	T	.	.	.	0.491	0.36960	P	0.024	0.20255	B	0.379787	0.04413	N	1.317860	0.999997	0.08975	N	1.09	0.27330	L	1.95	0.22474	T	-1.47	0.35991	N	0.199	0.23506	-0.9264	0.44659	T	0.039	0.16892	T	9	0.09893462	0.17921	T	0.003986	0.09431	T	0.141	0.37795	0.508	0.60386	0.28722502521	0.28325	0.28122033288831777	0.28035	.	.	0.321172863245	0.13599	T	0.023394	0.17867	T	-0.391589	0.02628	T	-0.596667	0.13093	T	0.0573319345712662	0.06742	T	0.589541	0.21661	T	0.1312531	0.30600	0.17058907	0.39179	0.1312531	0.30600	0.17058907	0.39178	-3.685	0.19097	T	0.2820152151566045	0.37747	0.085	0.10400	B	.;.;.	.;.;.	1.558008	0.19961	14.52	0.29414957419694338	0.01559	0.13888	0.18107	N	AEFBI	0.141550	0.26375	N	-0.338500464150444	0.27697	1.522	-0.327001287656479	0.27229	1.509501	0.00316778738823687	0.09966	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	1.951000	0.39958	3.317000	0.37513	-0.173000	0.11020	0.009000	0.18154	0.440000	0.24899	0.335000	0.25317	0.0:1.0:0.0:0.0	19.519	0.95171	690	0.58899	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2240.33	45	chr7	21599938	.	C	T	2240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=797;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.75;SOR=0.839	GT:AD:DP:GQ:PL	0/1:68,91:159:99:2254,0,1502	18	0	1	0
chr7	21765584	21765584	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon55:c.A9097G:p.I3033V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	22	1489	11	0	0	11	0.00368016	.	.	.	174070	Primary_ciliary_dyskinesia_7|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.039	.	0.0025	0.00399361	0.0063	0.0008	0.0364	0	0.0005	0.0033	0.0036	0.0073	0.0055368	856	154602	rs72657373	0.0058	0.0053	0.0059	0.0058	0.0320	0.0057	0.0057	0.0305	0.0299	0.0009	0.0320	0.0001	5.572e-05	0.0006	0.0040	0.0054	0.0058	0.0072	0.0044	0.0044	0.0044	0.0045	0.0201	0.0042	0.0040	0.0182	0.0174	0.0011	0.0103	0.0201	0	0.0004	0.0003	0	0.0040	0.0068	0.0051	0.194	0.20835	T	.	.	.	.	.	.	.	.	.	0.001184	0.39899	N	0.247613	0.800678	0.34507	D	.	.	.	0.84	0.47477	T	-0.91	0.24460	N	0.374	0.41557	-1.0310	0.20131	T	0.040	0.17404	T	9	0.0049520135	0.00106	T	.	.	.	0.039	0.10176	.	.	0.381580015636	0.37765	0.11207342946929215	0.11136	.	.	0.292625129223	0.09305	T	0.041983	0.26036	T	-0.552335	0.00282	T	-0.54317	0.17987	T	0.017680647403807	0.00499	T	0.638236	0.25169	T	0.03997252	0.05618	0.16142091	0.37547	0.05323709	0.10044	0.16142091	0.37546	-4.699	0.33392	T	0.3301875093050713	0.42822	0.085	0.10111	B	.;.;.	.;.;.	2.258203	0.28851	17.93	0.97693311207874634	0.35388	0.64996	0.32590	D	ALL	0.175700	0.30288	N	-0.291058461570966	0.29493	1.635998	-0.151734843973245	0.33343	1.906233	0.999168480235904	0.38622	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	5.63	4.45	0.53365	1.368000	0.33820	4.501000	0.43609	0.750000	0.87069	0.656000	0.28225	0.999000	0.35428	0.988000	0.63387	0.7876:0.1396:0.0728:0.0	7.889	0.28828	845	0.36510	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.003049	0.003788	0.02778	1219.71	95	chr7	21765584	.	A	G	1219.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.183;DP=1019;ExcessHet=0;FS=1.87;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.649;SOR=0.469	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1233,0,837	17	0	1	1
chr7	21901054	21901056	AAG	-	exonic	DNAH11	.	nonframeshift deletion	DNAH11:NM_001277115:exon82:c.13351_13353del:p.K4451del	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	457033	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.662e-05	0	8.639e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs552487543	1.848e-05	1.847e-05	1.634e-05	2.064e-05	6.723e-05	1.266e-05	1.085e-05	1.783e-05	1.227e-05	0	6.723e-05	0	0	0	0	2.159e-05	0	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4340.29	40	chr7	21901053	.	CAAG	C	4340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.453;DP=1021;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.154;SOR=0.799	GT:AD:DP:GQ:PL	0/1:123,114:237:99:4354,0,4770	18	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	625.69	40	chr7	30446188	.	C	G	625.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.478;DP=1332;ExcessHet=0.3672;FS=244.78;InbreedingCoeff=-0.0996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=2.27;SOR=10.163	GT:AD:DP:GQ:PL	0/1:85,22:107:24:24,0,1639	16	0	3	0
chr7	31643151	31643151	A	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon10:c.A1781G:p.N594S,ITPRID1:NM_001257968:exon11:c.A1781G:p.N594S,ITPRID1:NM_001257967:exon12:c.A1781G:p.N594S	.	.	.	.	.	.	.	.	.	.	.	4154992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00268836994654	7.7e-05	.	6.59e-05	0	0.0006	0	0	1.498e-05	0	0	5.17e-05	8	154602	rs368084998	2.6e-05	2.599e-05	3.403e-05	1.788e-05	0.0005	1.933e-05	1.692e-05	0.0003	0.0003	2.987e-05	0.0005	0	0	1.873e-05	0	1.079e-05	3.313e-05	1.159e-05	0.0001	0.0001	5.14e-05	0.0002	0.0014	9.15e-05	7.705e-05	0.0009	0.0008	0	0	0.0014	0	0	0	0	0	0	0	0.452	0.08969	T	0.401	0.14961	T	0.0	0.07471	B	0.003	0.08700	B	0.003632	0.00975	N	2.452570	1	0.08975	N	.	.	.	2.35	0.16217	T	0.15	0.05310	N	0.034	0.01274	-1.0061	0.28126	T	0.017	0.07187	T	10	0.018877655	0.00415	T	0.002688	0.05521	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.038558621076573756	0.03801	0.0258709643059	0.02640	0.218459412456	0.01223	T	3.71E-4	0.00113	T	-0.685584	0.00044	T	-0.868537	0.00756	T	0.0304352692285355	0.02057	T	0.134287	0.01062	T	0.016840713	0.00226	0.025439102	0.00589	0.016840713	0.00226	0.025439102	0.00588	-1.49	0.01913	T	.	.	0.079	0.12181	B	.;.;.;.;.	.;.;.;.;.	-1.814004	0.00152	0.002	0.37691537501018041	0.02498	0.00207	0.01180	N	AEFDGBI	0.033527	0.03996	N	-1.72796943978737	0.00747	0.03226293	-1.74837468031292	0.00939	0.04204566	0.998913010288246	0.37962	0.554377	0.28877	0	0.586423	0.34054	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.71	-6.47	0.01731	-1.159000	0.03261	-1.076000	0.06405	-3.724000	0.00064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6339:0.0:0.141:0.2251	7.634	0.27424	803	0.44167	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1817.33	145	chr7	31643151	.	A	G	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.367;DP=2698;ExcessHet=0;FS=4.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.224;SOR=0.885	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1831,0,2103	18	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,21:81:99:.:.:139,0,1542:.	8	0	5	6
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|1:77,16:93:6:0|1:48103308_C_G:6,0,2449:48103308	6	0	12	1
chr7	55955030	55955030	C	G	exonic	MRPS17	.	nonsynonymous SNV	MRPS17:NM_015969:exon3:c.C245G:p.A82G	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00758421461764	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs756797775	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0005	7.08e-06	5.79e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.093e-06	8.279e-05	0	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.021	0.49117	D	0.22	0.35205	T	0.936	0.52359	P	0.685	0.53610	P	0.000396	0.44960	D	0.097504	0.999394	0.46900	D	2.61	0.76335	M	5.5	0.00921	T	-0.73	0.60348	N	0.364	0.40565	-0.9226	0.45196	T	0.011	0.03949	T	10	0.32668382	0.49962	T	0.007584	0.20113	T	0.160	0.41473	0.492	0.57890	0.323442020237	0.31956	0.39072692415985605	0.38987	0.0662238468404	0.07386	0.470408380032	0.34736	T	0.062481	0.31927	T	-0.117603	0.33515	T	-0.391219	0.34408	T	0.825861752033234	0.48212	D	0.90471	0.66491	D	0.29764286	0.52692	0.22173487	0.46994	0.29764286	0.52692	0.22173487	0.46993	-7.706	0.59049	D	.	.	0.328	0.55053	B	.;.;.	.;.;.	3.797014	0.54692	23.5	0.99787916153585476	0.87396	0.93450	0.58249	D	AEFDBCI	0.664406	0.63358	D	0.61070299995123	0.73852	6.03407	0.57343832739702	0.73041	5.906132	0.999965373914011	0.48965	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	3.94	0.44807	4.514000	0.60201	3.803000	0.39877	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.955000	0.50612	0.0:0.919:0.0:0.081	12.646	0.56095	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	945.33	37	chr7	55955030	.	C	G	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=725;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.064;SOR=0.555	GT:AD:DP:GQ:PL	0/1:38,37:75:99:959,0,1039	18	0	1	0
chr7	64266487	64266570	ACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	-	exonic	ZNF679	.	nonframeshift deletion	ZNF679:NM_153363:exon5:c.854_937del:p.S306_F333del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0	0	0	0	3.039e-05	0	0.0002	.	.	.	.	5.885e-05	5.951e-05	3.813e-05	7.978e-05	0.0005	4.878e-05	4.497e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0	2.968e-05	9.938e-05	0.0005	9.874e-05	9.853e-05	0.0001	8.081e-05	0.0006	6.017e-05	4.888e-05	0.0002	9.044e-05	0.0002	0	0	0	0	0	0	4.417e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1688.29	35	chr7	64266486	.	AACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	A	1688.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=1038;ExcessHet=0;FS=3.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-2.835;QD=10.49;ReadPosRankSum=-1.072;SOR=0.744	GT:AD:DP:GQ:PL	0/1:107,54:161:99:1702,0,4045	18	0	1	0
chr7	77292997	77292997	A	T	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.A2461T:p.M821L	.	428	1050	41	3	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0008	0.00199681	0.0034	0	0.0016	0.0001	0	0.0015	0.0044	0.0173	0.0029042	449	154602	rs144507189	0.0019	0.0019	0.0015	0.0024	0.0181	0.0019	0.0019	0.0174	0.0171	0.0001	0.0016	0.0011	7.557e-05	0	0.0094	0.0009	0.0026	0.0181	0.0013	0.0013	0.0012	0.0015	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0013	0.0026	0	0	0.0034	0.0013	0.0019	0.0145	0.017	0.51248	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.595	0.75868	M	1.05	0.39990	T	-2.41	0.52938	N	0.6	0.61849	-0.4572	0.70161	T	0.292	0.66374	T	10	0.009073257	0.00205	T	.	.	.	0.304	0.62510	0.5	0.59147	0.478451964739	0.47474	0.41157083077869167	0.41073	0.596358103577	0.54880	0.53743326664	0.44083	T	0.100763	0.40687	T	-0.19223	0.21931	T	-0.0346211	0.68061	D	0.0755094731635753	0.09403	T	0.80032	0.44603	T	0.5057044	0.67429	0.50512016	0.71396	0.5057044	0.67430	0.50512016	0.71396	-7.85	0.60043	D	.	.	0.228	0.46073	B	.	.	4.348121	0.66758	25.0	0.98265455641230415	0.39703	0.96448	0.69189	D	AEFGCI	0.861843	0.77999	D	0.68435625978226	0.78606	6.905898	0.641971344388274	0.78014	6.791714	0.999998680789729	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.39	5.39	0.77615	8.348000	0.89968	9.276000	0.79675	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	14.236	0.65471	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.001359	0.008772	0.000000	0.000000	0.024390	0.011364	0.05263	2466.83	33	chr7	77292997	.	A	T	2466.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.061;DP=801;ExcessHet=0.119;FS=1.088;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.246;SOR=0.614	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1393,0,1574	17	0	2	0
chr7	89335749	89335749	C	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.C2767G:p.L923V	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00384679751228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.272	0.66756	T	0.583	0.38873	P	0.109	0.31370	B	0.020302	0.27067	N	0.260668	0.99998	0.18612	N	1.765	0.45800	L	3.46	0.05249	T	-1.34	0.33401	N	0.059	0.03069	-0.9593	0.39311	T	0.011	0.04227	T	10	0.11104825	0.20779	T	0.003847	0.09024	T	0.054	0.15330	0.135	0.03920	0.221019684889	0.21715	0.12032134268247027	0.11959	0.0503481169464	0.05528	0.267125964165	0.05769	T	0.002504	0.01894	T	-0.305289	0.08170	T	-0.676303	0.07211	T	0.18464994430542	0.19524	T	0.613939	0.23413	T	0.07457902	0.16745	0.071763344	0.15404	0.07457902	0.16745	0.071763344	0.15404	-4.214	0.26954	T	.	.	0.078	0.11606	B	.;.	.;.	-0.080804	0.03758	0.782	0.73559674794387908	0.10372	0.19055	0.20510	N	AEFI	0.120080	0.23408	N	-0.620344253306381	0.18334	0.9510095	-0.688599269384154	0.17245	0.9161047	4.19190075181907E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	2.55	0.29757	-0.077000	0.11356	-0.947000	0.06827	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.050000	0.15192	0.1254:0.5464:0.1216:0.2065	3.103	0.05951	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1398.33	45	chr7	89335749	.	C	G	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1114;ExcessHet=0;FS=1.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.157;SOR=0.931	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1412,0,979	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,35:172:99:0|1:93102964_C_G:156,0,4852:93102964	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,35:172:99:0|1:93102964_C_G:156,0,4852:93102964	5	0	14	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|1:88,46:134:99:0|1:100175805_G_C:684,0,3104:100175805	1	0	18	0
chr7	100752308	100752308	-	CAGAAAAACCCACCACCCCCA	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT,ZAN:NM_173059:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.408e-06	0	0	0	0	1.525e-05	0	0	3.84e-05	1	26028	rs758781764	1.649e-05	2.974e-05	2.049e-05	1.235e-05	8.316e-05	1.055e-05	8.5e-06	3.228e-05	2.062e-05	0	0	0	0	8.361e-05	0	1.085e-05	2.403e-05	8.316e-05	3.338e-05	2.61e-05	6.81e-05	0	7.165e-05	5.54e-06	2.07e-06	1.186e-05	4.43e-06	0	0	0	0	0	0	0	7.165e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	707.79	33	chr7	100752308	.	C	CCAGAAAAACCCACCACCCCCA	707.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.657;DP=1388;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-4.161;QD=2.34;ReadPosRankSum=-0.025;SOR=0.663	GT:AD:DP:GQ:PL	0/1:135,7:142:99:445,0,5338	17	0	2	0
chr7	100752324	100752324	-	CCCCACAGAAAAACCCACCAT	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI,ZAN:NM_173059:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.056e-05	0	0	0	0.0003	4.587e-05	0	6.089e-05	3.84e-05	1	26028	rs781315033	9.528e-05	0.0001	8.519e-05	0.0001	0.0002	8.056e-05	7.487e-05	0.0001	0.0001	0	0	0.0002	0	0.0007	0	6.921e-05	0.0001	0.0002	9.854e-05	0.0002	0.0001	8.461e-05	0.0002	4.584e-05	3.223e-05	9.45e-05	6.658e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1579.79	33	chr7	100752324	.	C	CCCCCACAGAAAAACCCACCAT	1579.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.167;DP=1415;ExcessHet=0.119;FS=14.38;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-5.024;QD=5.06;ReadPosRankSum=3.99;SOR=1.617	GT:AD:DP:GQ:PL	0/1:154,9:163:99:438,0,4973	17	0	2	0
chr7	100752560	100752622	ATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	-	exonic	ZAN	.	nonframeshift deletion	ZAN:NM_003386:exon14:c.2455_2517del:p.M819_S839del,ZAN:NM_173059:exon14:c.2455_2517del:p.M819_S839del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1098.79	33	chr7	100752559	.	CATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	C	1098.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.5;DP=2005;ExcessHet=0.119;FS=0.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.82;MQRankSum=-6.745;QD=0.8;ReadPosRankSum=-1.775;SOR=0.975	GT:AD:DP:GQ:PL	0/1:692,62:754:99:496,0,28686	17	0	2	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,45:100:99:0|1:100773849_CCAT_C:1724,0,2122:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:117,56:173:99:1964,0,4720	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,132:419:99:0|1:100952930_T_C:4679,0,11654:100952930	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,96:482:99:0|1:100953098_G_C:3038,0,13568:100953098	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	0/1:324,93:472:99:.:.:2930,0,13325:.	2	0	17	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:284,23:326:99:.:.:128,0,11799:.	14	0	5	0
chr7	100991312	100991312	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C749T:p.T250M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0185160018677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270297201	2.815e-05	2.941e-05	1.852e-05	3.803e-05	3.786e-05	2.107e-05	1.85e-05	2.146e-05	1.836e-05	0	0	3.972e-05	2.798e-05	0	0	2.966e-05	3.443e-05	3.786e-05	6.574e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.019	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.7	0.12162	T	-0.71	0.22078	N	0.072	0.04547	-0.9858	0.33639	T	0.017	0.06950	T	7	0.10468501	0.19311	T	0.018516	0.40611	T	0.036	0.09122	0.229	0.15556	0.0482279557977	0.04254	0.01304130734709752	0.01262	.	.	0.511757791042	0.40468	T	0.003155	0.02556	T	-0.319755	0.06917	T	-0.697083	0.05987	T	0.104271096997551	0.12820	T	0.489851	0.15048	T	0.0344367	0.03864	0.042338684	0.05020	0.0344367	0.03864	0.042338684	0.05020	-3.077	0.30967	T	.	.	0.222	0.45248	B	.;.	.;.	1.324971	0.17293	13.08	0.92498514642634144	0.21934	0.00732	0.03068	N	AEFBI	0.039359	0.05705	N	-0.806979104065482	0.13131	0.6447661	-0.97077248228485	0.10445	0.5261158	1.29810242774381E-5	0.02871	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	0.737000	0.25812	-4.369000	0.02192	-1.895000	0.00529	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6678:0.0:0.3321	3.071	0.05853	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	5268.33	35	chr7	100991312	.	C	T	5268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.985;DP=4581;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.74;QD=12.37;ReadPosRankSum=0.304;SOR=0.569	GT:AD:DP:GQ:PL	0/1:213,213:426:99:5282,0,5325	18	0	1	0
chr7	101032120	101032120	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C704T:p.T235I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000884629925838	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs777204968	1.368e-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	1.319e-05	1.316e-05	2.577e-05	0	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.0	0.91255	D	.	.	.	0.563	0.38396	P	0.095	0.30245	B	.	.	.	.	1	0.08975	N	2.485	0.72352	M	4.3	0.02437	T	-0.75	0.21003	N	0.15	0.15328	-0.8993	0.48064	T	0.005	0.01688	T	9	0.12229389	0.23197	T	8.85E-4	0.00800	T	0.026	0.05648	0.272	0.22210	0.0297737177859	0.01360	0.004561145637695706	0.00429	.	.	0.275673866272	0.06896	T	0.01815	0.14683	T	-0.281809	0.10477	T	-0.642576	0.09483	T	0.0961414482620685	0.11927	T	0.463654	0.13513	T	0.08271172	0.19066	0.09347963	0.22081	0.08271172	0.19066	0.09347963	0.22080	-6.773	0.52358	T	.	.	0.195	0.41648	B	.	.	-0.065253	0.03855	0.832	0.30372307748342864	0.01658	0.00247	0.01365	N	AEFBI	0.039000	0.05601	N	-0.981590958415658	0.08996	0.4240298	-1.12199192631362	0.07281	0.3535711	1.46674520304497E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	0.792	0.792	0.17769	-0.108000	0.10827	-3.224000	0.02956	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.934	0.13285	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	7110.33	547	chr7	101032120	.	C	T	7110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.983;DP=3795;ExcessHet=0;FS=1.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.59;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,203:428:99:0|1:101032095_A_C:7124,0,8172:101032095	18	0	1	0
chr7	101048107	101048107	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.T12527G:p.I4176S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.008665371357	.	.	1.698e-05	0	0	0	0	3.047e-05	0	0	1.29e-05	2	154602	rs777254345	6.914e-07	6.84e-07	1.375e-06	0	9.048e-07	0	0	.	.	0	0	0	0	0	0	9.048e-07	0	0	6.578e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	.	.	.	0.985	0.61118	D	0.484	0.47189	P	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.41	0.02196	T	-1.58	0.38151	N	0.261	0.29544	-0.8765	0.50036	T	0.007	0.02598	T	9	0.16927591	0.31526	T	0.008665	0.22878	T	0.164	0.42212	0.569	0.69167	0.21279746466	0.20884	0.6669170699766578	0.66629	.	.	0.407433569431	0.26101	T	0.018705	0.15030	T	-0.154381	0.27627	T	-0.459534	0.26650	T	0.202498898545005	0.20553	T	0.385961	0.09480	T	0.22884224	0.45610	0.2054505	0.44715	0.22884224	0.45610	0.2054505	0.44714	-6.84	0.52856	T	.	.	0.637	0.70398	P	.	.	1.084761	0.14682	11.23	0.55319986607899896	0.05318	0.06222	0.12210	N	AEFDBI	0.069167	0.13678	N	-0.342073193796157	0.27564	1.513343	-0.462286256685823	0.23200	1.264033	0.00980575526567815	0.11916	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.97	3.97	0.45241	1.954000	0.39987	2.294000	0.31976	0.665000	0.62972	0.073000	0.22155	0.512000	0.25262	0.001000	0.02609	0.0:0.0:0.0:1.0	9.386	0.37507	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1762.33	36	chr7	101048107	.	T	G	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.188;DP=770;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.76;ReadPosRankSum=1.72;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,46:81:99:0|1:101048107_T_G:1776,0,1155:101048107	18	0	1	0
chr7	101211934	101211934	C	G	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon11:c.G1144C:p.D382H	Lysyl hydroxylase 3 deficiency, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	433853	not_provided|Bone_fragility_with_contractures,_arterial_rupture,_and_deafness	MedGen:C3661900|MONDO:MONDO:0012892,MedGen:C2676285,OMIM:612394,Orphanet:300284	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.235	.	0.0066	0.00279553	0.0087	0.0023	0.0038	0.0002	0.0047	0.0136	0.0018	0.0022	0.0057632	891	154602	rs41281013	0.0074	0.0074	0.0074	0.0074	0.0143	0.0073	0.0072	0.0118	0.0109	0.0013	0.0028	0.0149	0	0.0023	0.0143	0.0085	0.0078	0.0016	0.0057	0.0057	0.0062	0.0052	0.0096	0.0054	0.0053	0.0090	0.0087	0.0015	0.0297	0.0031	0.0121	0.0002	0.0012	0.0136	0.0096	0.0047	0.0017	0.098	0.30800	T	0.108	0.37589	T	0.947	0.53479	P	0.792	0.57793	P	0.001964	0.37549	N	0.224065	0.988164	0.40715	D	2.615	0.76484	M	-1.92	0.84773	D	-4.89	0.81431	D	0.742	0.74189	-0.5423	0.67077	T	0.265	0.63588	T	10	0.016706944	0.00353	T	.	.	.	0.649	0.86736	.	.	0.929090372969	0.92836	0.7426255628462778	0.74208	0.159084507168	0.17954	0.460625231266	0.33396	T	0.670791	0.90226	D	-0.138265	0.30166	T	0.0380109	0.72797	D	0.0596420814324994	0.07112	T	0.956104	0.83363	D	0.33327624	0.55738	0.23196249	0.48343	0.33327624	0.55738	0.23196249	0.48342	-7.593	0.58262	D	0.4410743163804797	0.52655	0.264	0.49855	B	.	.	4.357200	0.66971	25.0	0.99261600676526895	0.57222	0.97871	0.77756	D	AEFDBI	0.868609	0.78880	D	0.168160126062719	0.49673	3.165218	0.139121897844024	0.46569	2.900734	0.994478578734434	0.33653	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.26	3.36	0.37579	4.939000	0.63227	5.864000	0.50463	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.0:0.887:0.0:0.113	9.093	0.35784	878	0.29785	.	RP11-132A1.6|GNB2|GNB2	Pituitary|Small_Intestine_Terminal_Ileum|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	0	0	1	0	0.023858	0.015464	0.021798	0.052632	0.055556	0.008621	0.025000	0.000000	0.02632	980.33	43	chr7	101211934	.	C	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=724;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.053;SOR=0.512	GT:AD:DP:GQ:PL	0/1:29,37:66:99:994,0,740	18	0	1	0
chr7	105495167	105495167	T	C	exonic	PUS7	.	nonsynonymous SNV	PUS7:NM_001318163:exon6:c.A835G:p.I279V,PUS7:NM_001318164:exon6:c.A817G:p.I273V,PUS7:NM_019042:exon6:c.A817G:p.I273V	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0121904415911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	2.052e-06	2.735e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.39	0.15506	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.8	0.19659	N	1.08	0.39401	T	-0.2	0.10136	N	0.586	0.61764	-0.8703	0.50506	T	0.185	0.53391	T	10	0.5843971	0.66028	D	0.01219	0.30540	T	0.171	0.43483	0.614	0.74768	0.364342057095	0.36045	0.36685892591494684	0.36599	0.441760154808	0.44160	0.781971991062	0.79225	T	0.032187	0.22378	T	-0.0793359	0.39823	T	-0.351737	0.39005	T	0.883497953414917	0.53367	D	0.936306	0.76101	D	0.22953926	0.45692	0.08119289	0.18433	0.22953926	0.45692	0.08119289	0.18432	-4.065	0.24772	T	0.26962453956612176	0.36292	0.153	0.33823	B	.;.	.;.	4.040221	0.59810	24.1	0.99815388958022289	0.89885	0.98868	0.87925	D	AEBI	0.862487	0.78078	D	0.313608544569492	0.56846	3.850128	0.415381016004863	0.62522	4.469064	0.99999895758405	0.74766	0.643511	0.44296	0	0.708844	0.79440	0	0.643519	0.47002	0	0.631631	0.49550	0	.	.	5.21	5.21	0.72005	7.419000	0.79384	7.875000	0.72177	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.255	0.65595	896	0.25515	.;.	.	.	.	.	.	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	1680.33	39	chr7	105495167	.	T	C	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=843;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.443;SOR=0.913	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1694,0,1432	18	0	1	0
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C	Lissencephaly 5, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	428654	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	3674.83	34	chr7	107940269	.	G	A	3674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=888;ExcessHet=0.119;FS=2.622;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.83;SOR=0.553	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1494,0,1505	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|1:233,23:256:99:0|1:128479325_T_C:236,0,9676:128479325	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|1:233,23:256:99:0|1:128479325_T_C:236,0,9676:128479325	3	0	9	7
chr7	134209835	134209835	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G2975A:p.S992N,LRGUK:NM_001365701:exon16:c.G2972A:p.S991N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06686932	0.09235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238376	0.03380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	-1.192553	0.00538	0.013	0.68875980856015884	0.08794	0.05763	0.11694	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.058706	0.01089	0	0.10902	0.23433	5.42	-10.8	0.00171	-1.818000	0.01811	-5.388000	0.01737	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0896:0.2133:0.4327:0.2644	4.484	0.11194	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	72.2	.	chr7	134209835	.	G	A	72.2	.	AC=2;AF=0.083;AN=24;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.2974;MLEAC=2;MLEAF=0.083;MQ=60;QD=24.07;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0	11	1	0	7
chr7	134576992	134576992	T	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon9:c.T855G:p.N285K,AKR1B15:NM_001367821:exon9:c.T771G:p.N257K,AKR1B15:NM_001080538:exon10:c.T855G:p.N285K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0125376869613	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs375543873	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	0.987891	0.40668	D	1.235	0.30780	L	2.31	0.16794	T	-4.87	0.81269	D	0.395	0.46649	-0.9872	0.33298	T	0.027	0.11663	T	9	0.25577247	0.42974	T	0.012538	0.31203	T	0.075	0.21907	0.643	0.78010	0.112648838833	0.10856	0.4376542028797822	0.43682	0.0635786863662	0.07079	0.467388093472	0.34322	T	.	.	.	-0.547109	0.00304	T	-0.727468	0.04443	T	0.128706008195877	0.15261	T	0.810419	0.46176	T	.	.	.	.	.	.	.	.	-6.679	0.51652	T	.	.	0.209	0.43585	B	.;.	.;.	0.858468	0.12310	8.849	0.94067503474665048	0.24207	0.60608	0.31244	D	AEFBI	0.267789	0.38442	N	-0.734318168531021	0.15062	0.7558063	-0.842379955908037	0.13471	0.6989776	0.753817667671582	0.23402	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.51	-5.4	0.02449	-0.077000	0.11356	-4.433000	0.02159	-0.210000	0.08370	0.870000	0.30794	0.000000	0.08366	0.370000	0.26111	0.2231:0.5377:0.0:0.2391	6.719	0.22509	754	0.51307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3374.33	41	chr7	134576992	.	T	G	3374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=1087;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.773;SOR=0.555	GT:AD:DP:GQ:PL	0/1:132,140:272:99:3388,0,2926	18	0	1	0
chr7	134935758	134935760	AAG	-	exonic	CALD1	.	nonframeshift deletion	CALD1:NM_033139:exon4:c.674_676del:p.E227del,CALD1:NM_033138:exon6:c.1379_1381del:p.E462del,CALD1:NM_033157:exon6:c.692_694del:p.E233del	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0022	0.0008	0.0001488	23	154602	rs776724304	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0	0.0002	0	0	0	0.0002	0.0002	0.0001	0.0005	7.225e-05	7.223e-05	3.853e-05	0.0001	0.0001	3.97e-05	3.126e-05	6.802e-05	5.086e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2894.29	34	chr7	134935757	.	AAAG	A	2894.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.14;DP=791;ExcessHet=0;FS=1.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-0.101;SOR=0.894	GT:AD:DP:GQ:PL	0/1:91,76:167:99:2908,0,3549	18	0	1	0
chr7	135010224	135010224	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367815:exon4:c.C307T:p.H103Y,AGBL3:NM_001367819:exon4:c.C253T:p.H85Y,AGBL3:NM_001367812:exon5:c.C493T:p.H165Y,AGBL3:NM_001367813:exon5:c.C493T:p.H165Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000699667688753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181549248	1.316e-05	1.431e-05	0	2.29e-05	2.21e-05	2.19e-06	8.2e-07	3.67e-06	1.37e-06	0	0	0	0	0	0	2.21e-05	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	31.09	2	chr7	135010224	.	C	T	31.09	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=-0.157;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	14	0	1	4
chr7	140352145	140352145	T	C	exonic	SLC37A3	.	nonsynonymous SNV	SLC37A3:NM_001363375:exon6:c.A377G:p.Y126C,SLC37A3:NM_001287498:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363373:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363374:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363378:exon8:c.A620G:p.Y207C,SLC37A3:NM_032295:exon8:c.A620G:p.Y207C,SLC37A3:NM_207113:exon8:c.A620G:p.Y207C	.	.	.	.	.	.	.	.	0.8060	0.708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.0492185076826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.025	0.69154	D	0.999	0.90584	D	0.982	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	0.33	0.58468	T	-6.33	0.91184	D	0.813	0.85554	-0.0926	0.80268	T	0.416	0.76285	T	10	0.8310435	0.82267	D	0.049219	0.63715	D	0.637	0.86130	0.67	0.80803	0.636059428734	0.63307	0.229082191124717	0.22823	0.983214873192	0.73814	0.862401425838	0.91465	D	0.431005	0.77928	T	0.307217	0.83533	D	0.20352	0.83318	D	0.996373086384468	0.89215	D	0.963104	0.86792	D	0.67820865	0.76873	0.6077026	0.77188	0.67820865	0.76874	0.6077026	0.77189	-10.794	0.79948	D	.	.	0.617	0.69583	P	.;.;.;.	.;.;.;.	5.502685	0.91603	32	0.99110801830414186	0.52725	0.99658	0.98414	D	AEFBI	0.945055	0.95290	D	0.829400411189145	0.87907	9.383085	0.789069641976915	0.89024	9.807984	0.999999980465231	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	7.884000	0.85773	4.213000	0.42544	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.715	0.77425	798	0.45050	.;.;Major facilitator superfamily domain|Major facilitator superfamily 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	1869.33	78	chr7	140352145	.	T	C	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1096;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.75;SOR=0.798	GT:AD:DP:GQ:PL	0/1:62,75:137:99:1883,0,1323	18	0	1	0
chr7	140544691	140544691	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon13:c.G2254A:p.V752I,DENND2A:NM_001318053:exon14:c.G2254A:p.V752I,DENND2A:NM_001362678:exon14:c.G2254A:p.V752I,DENND2A:NM_015689:exon14:c.G2254A:p.V752I	.	425	1083	13	1	0	15	0.00687758	.	.	.	2219486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00345413763867	.	.	0.0002	0	0.0003	0	0	0.0004	0	0.0001	0.0002199	34	154602	rs374348351	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0.0002	0.0003	0.0017	7.558e-05	0	0.0071	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	7.224e-05	0	0.0005	0.0009	0.0002	0	0.0034	0.0002	0.0005	0.0004	0.073	0.34800	T	0.173	0.34716	T	0.006	0.24313	B	0.033	0.22329	B	0.001883	0.37740	N	0.180616	0.500626	0.31738	D	0.75	0.19020	N	2.85	0.10578	T	-0.6	0.20145	N	0.111	0.09772	-1.0560	0.12776	T	0.018	0.07234	T	10	0.04511541	0.03546	T	0.003454	0.07786	T	0.030	0.07022	0.55	0.66576	0.134007934775	0.12933	0.23198701182130385	0.23113	0.160703966068	0.18139	0.350678920746	0.18021	T	0.013964	0.11978	T	-0.455885	0.01042	T	-0.586647	0.13958	T	0.015043082946588	0.00324	T	0.882912	0.63166	D	0.05198211	0.09629	0.09036727	0.21186	0.05198211	0.09628	0.09036727	0.21186	-8.223	0.62579	D	.	.	0.070	0.05800	B	.;.;.;.;.	.;.;.;.;.	2.408918	0.30961	18.60	0.98976151070024165	0.49640	0.80842	0.40378	D	ALL	0.175550	0.30273	N	-0.350827636737323	0.27241	1.493052	-0.204502282804147	0.31374	1.774962	0.999999942746075	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.95	2.13	0.26445	1.117000	0.30848	-1.581000	0.05125	0.578000	0.29377	1.000000	0.71638	0.000000	0.08366	0.981000	0.58702	0.0:0.6218:0.0:0.3782	8.347	0.31443	620	0.66037	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN 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	0.011078	0.010101	0.010870	0.020468	0.000000	0.008621	0.003049	0.003788	0.02632	1121.33	39	chr7	140544691	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.337;DP=742;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.926;SOR=0.866	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1135,0,1064	18	0	1	0
chr7	144110246	144110246	G	A	exonic	OR2A2	.	nonsynonymous SNV	OR2A2:NM_001005480:exon1:c.G664A:p.G222R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00214733389379	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs537992045	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0002	1.237e-05	1.051e-05	4.578e-05	3.272e-05	0	0	0	0	0	0.0002	1.259e-05	4.967e-05	9.275e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	6.556e-05	5.24e-06	2.46e-06	8e-06	2.99e-06	4.829e-05	0	6.556e-05	0	0	0	0	0	0	0	0.379	0.11227	T	0.365	0.16717	T	0.001	0.07471	B	0.005	0.11217	B	0.484534	0.05000	U	1.451160	1	0.08975	N	-1.46	0.00541	N	1.41	0.33412	T	0.18	0.05035	N	0.128	0.12198	-1.0202	0.23649	T	0.019	0.07939	T	10	0.025685012	0.00755	T	0.002147	0.04016	T	0.006	0.00375	0.382	0.39970	0.0920862733494	0.08535	0.24879808476859416	0.24793	0.0317240933455	0.03287	0.17323449254	0.00046	T	0.001549	0.00995	T	-0.481364	0.00726	T	-0.747695	0.03576	T	0.0577829703688622	0.06815	T	0.213579	0.02626	T	0.05764907	0.11498	0.06606721	0.13479	0.05764907	0.11498	0.06606721	0.13478	-2.555	0.06168	T	.	.	0.113	0.22245	B	.	.	-0.958769	0.00831	0.028	0.38181170141648019	0.02560	0.00320	0.01682	N	AEFGI	0.033392	0.03951	N	-2.54764879615487	0.00012	0.0005345203	-2.60981642185841	0.00013	0.0005676731	0.999598120241938	0.40745	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-6.94	0.01475	-11.600000	0.00004	-20.000000	0.00162	-2.426000	0.00287	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0846:0.0976:0.5018:0.316	5.495	0.16091	900	0.24599	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	2388.33	33	chr7	144110246	.	G	A	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1054;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.558;SOR=0.714	GT:AD:DP:GQ:PL	0/1:96,97:193:99:2402,0,2188	18	0	1	0
chr7	144185835	144185835	T	C	exonic	CTAGE4;CTAGE8	.	stoploss	CTAGE8:NM_001278507:exon1:c.T2332C:p.X778R,CTAGE4:NM_198495:exon1:c.T2332C:p.X778R	.	592	917	11	2	0	15	0.00811249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	0	0.0156	0	0.0185	0.0178	0	0.0020	3.84e-05	1	26028	rs757450466	0.0048	0.0067	0.0049	0.0046	0.0066	0.0046	0.0046	0.0054	0.0054	0.0011	0.0020	0.0072	0	0.0013	0.0066	0.0056	0.0049	0.0018	0.0047	0.0046	0.0051	0.0043	0.0070	0.0044	0.0042	0.0063	0.0060	0.0018	0	0.0056	0.0064	0	0.0011	0.0139	0.0070	0.0039	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.004	0.00025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.23535	0.15948	T	-0.575841	0.14918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763654	0.11336	7.954	0.84533109145910368	0.15348	0.07152	0.13177	N	AEFI	.	.	.	0.227453679692342	0.52533	3.426885	-0.178979374195768	0.32311	1.836973	7.75724767434952E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.057018	0.00518	0	0.0534923	0.11880	.	.	.	0.457000	0.21588	0.391000	0.17890	0.251000	0.18332	0.967000	0.34061	0.142000	0.23101	0.298000	0.24452	.	.	.	933	0.16026	.	.	.	.	.	.	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	0.006791	0.000000	0.010417	0.000000	0.000000	0.013514	0.010753	0.000000	0.02632	130.57	14	chr7	144185835	.	T	C	130.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.777;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.026;MQ=28.15;MQRankSum=0.199;QD=5.93;ReadPosRankSum=1.16;SOR=0.223	GT:AD:DP:GQ:PL	0/1:15,7:22:99:144,0,448	18	0	1	0
chr7	144268388	144268388	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C863T:p.T288M,CTAGE4:NM_198495:exon1:c.C863T:p.T288M	.	937	581	3	1	0	5	0.00428449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.506179885975	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200264999	0.0022	0.0011	0.0022	0.0023	0.0377	0.0021	0.0020	0.0339	0.0324	0.0017	0.0037	0	0.0377	0	0.0058	0.0006	0.0032	0.0033	0.0013	0.0025	0.0004	0.0022	0.0090	0.0006	0.0004	0.0016	0.0007	0	0	0.0090	0	0	0	0	0.0014	0	0	0.141	0.25560	T	0.306	0.19972	T	0.378	0.34287	B	0.064	0.27215	B	.	.	.	.	1	0.08975	P	0.275	0.09989	N	0.99	0.41750	T	-1.89	0.44094	N	0.068	0.04072	-1.0266	0.21560	T	0.064	0.26420	T	5	0.14179087	0.26939	T	0.50618	0.95229	D	0.011	0.01250	0.2	0.11384	0.159798565429	0.15598	0.12295262932151242	0.12221	.	.	0.541789650917	0.44698	T	0.023806	0.18107	T	-0.338922	0.05463	T	-0.724614	0.04576	T	0.085074760337196	0.10623	T	.	.	.	0.023465531	0.01089	0.10558889	0.25386	0.023465531	0.01088	0.10558889	0.25385	-4.452	0.30256	T	.	.	0.085	0.10304	B	.	.	0.448614	0.08186	4.922	0.33670873421969733	0.02018	0.00247	0.01365	N	AEFI	0.042085	0.06485	N	-0.955764656593615	0.09564	0.4531783	-1.14945540420686	0.06777	0.3274026	1.10942770519523E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.058000	0.14178	-0.898000	0.07002	0.218000	0.18051	0.001000	0.13787	0.000000	0.08366	0.020000	0.11549	.	.	.	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.09091	727.96	25	chr7	144268388	.	G	A	727.96	.	AC=2;AF=0.091;AN=22;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=0.8401;MLEAC=3;MLEAF=0.136;MQ=23.93;QD=28;SOR=6.593	GT:AD:DP:GQ:PL	1/1:0,26:26:78:746,78,0	10	1	0	8
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	0/1:295,103:398:99:1568,0,10484	1	0	18	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	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	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.07895	344.02	68	chr7	152235831	.	C	G	344.02	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.16;DP=1631;ExcessHet=0.3672;FS=3.14;InbreedingCoeff=-0.0875;MLEAC=3;MLEAF=0.079;MQ=50.5;MQRankSum=-2.006;QD=1.01;ReadPosRankSum=-1.193;SOR=1.089	GT:AD:DP:GQ:PL	0/1:124,15:139:48:48,0,4945	16	0	3	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|1:177,33:210:99:0|1:10609943_C_T:313,0,6576:10609943	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|1:176,35:211:99:0|1:10609943_C_T:365,0,6496:10609943	6	0	10	3
chr8	10611284	10611284	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G2814T:p.E938D	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	898689	Occult_macular_dystrophy	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.231	0.222351358908	.	.	8.522e-05	0	0	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs772171734	7.736e-05	7.73e-05	6.812e-05	8.669e-05	0.0073	6.538e-05	6.14e-05	0.0055	0.0049	0.0001	8.944e-05	0	0	0	0.0073	4.856e-05	4.968e-05	6.956e-05	3.938e-05	3.936e-05	6.423e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0002	0.017	0.51248	D	0.033	0.53072	D	.	.	.	.	.	.	0.003319	0.35125	N	0.000000	0.936757	0.26909	N	1.975	0.53506	M	-1.16	0.78082	T	-1.16	0.29727	N	0.271	0.30687	-0.4752	0.69541	T	0.421	0.76650	T	10	0.14040044	0.26687	T	0.222351	0.87850	D	0.231	0.53208	0.167	0.07186	0.282179105231	0.27821	0.28368259385035727	0.28281	.	.	0.31776034832	0.13081	T	0.10515	0.41536	T	-0.244471	0.14785	T	-0.386288	0.34987	T	0.0804203897714615	0.10041	T	0.357964	0.08163	T	0.06720304	0.14529	0.07703944	0.17122	0.06720304	0.14529	0.07703944	0.17122	-4.931	0.36082	T	0.4182070226565116	0.50739	0.138	0.30184	B	.	.	1.864044	0.23680	16.11	0.99666847752475818	0.78330	0.38934	0.26100	N	AEFDBI	0.087104	0.17662	N	-0.221788105858038	0.32240	1.816146	-0.386165012066516	0.25409	1.397141	0.0122612217173279	0.12302	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.58	3.7	0.41607	0.595000	0.23729	-0.320000	0.09971	-0.233000	0.07663	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.9048:0.0:0.0952	9.793	0.39885	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	0	0	1	0	0.008560	0.000000	0.012228	0.017544	0.000000	0.008621	0.003049	0.000000	0.02632	1173.33	55	chr8	10611284	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.615;DP=970;ExcessHet=0;FS=2.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.342;SOR=0.551	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1187,0,1570	18	0	1	0
chr8	10612808	10612808	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G1290T:p.Q430H	Occult macular dystrophy, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	898720	Occult_macular_dystrophy|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0226723834076	.	0.000399361	0.0003	0	8.723e-05	0	0	0.0003	0	0.0005	0.0002135	33	154602	rs142459130	0.0002	0.0002	0.0002	0.0002	0.0120	0.0002	0.0002	0.0097	0.0089	0.0001	0.0002	0	0	0	0.0120	0.0002	0.0004	0.0003	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0006	0	0	0	0.0136	0.0003	0.0005	0.0008	0.005	0.63226	D	0.161	0.31326	T	.	.	.	.	.	.	0.834507	0.09081	U	0.883524	1	0.08975	N	0.975	0.24501	L	3.63	0.04353	T	-1.72	0.40850	N	0.195	0.21449	-0.9259	0.44730	T	0.011	0.04088	T	10	0.0377883	0.02155	T	0.022672	0.45580	T	0.032	0.07718	0.382	0.39970	0.0482279557977	0.04254	0.0942514248820504	0.09357	.	.	0.259485006332	0.04830	T	0.087179	0.37886	T	-0.548264	0.00299	T	-0.71294	0.05145	T	0.0274895822209088	0.01615	T	0.338366	0.07261	T	0.09714659	0.22895	0.067587204	0.14001	0.09714659	0.22895	0.067587204	0.14000	-3.762	0.20238	T	0.3638244518274665	0.46002	0.312	0.53906	B	.	.	1.160826	0.15498	11.89	0.99463057426068302	0.65892	0.42416	0.26873	N	AEFDBI	0.078621	0.15866	N	-0.614516283172622	0.18508	0.9614276	-0.654798527602974	0.18096	0.9651751	2.95303270747148E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.98	3.06	0.34374	1.044000	0.29939	-0.187000	0.11075	0.599000	0.40250	0.012000	0.18695	0.000000	0.08366	0.076000	0.17014	0.0:0.7368:0.1673:0.096	7.305	0.25616	790	0.46189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012614	0.010309	0.012228	0.020468	0.000000	0.017544	0.003049	0.007576	0.02632	1663.33	36	chr8	10612808	.	C	A	1663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.058;SOR=0.788	GT:AD:DP:GQ:PL	0/1:30,63:93:99:1677,0,687	18	0	1	0
chr8	10613181	10613181	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G917C:p.G306A	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	898726	Occult_macular_dystrophy|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.0174599301498	.	.	8.332e-05	0	0	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs761314438	8.075e-05	8.072e-05	7.49e-05	8.666e-05	0.0073	6.87e-05	6.423e-05	0.0055	0.0049	0.0001	8.944e-05	0	0	0	0.0073	5.216e-05	6.624e-05	6.956e-05	3.938e-05	3.936e-05	6.422e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0002	0.383	0.11085	T	0.343	0.17857	T	.	.	.	.	.	.	0.745446	0.06453	N	1.193030	1	0.08975	N	1.04	0.26193	L	3.84	0.03675	T	-0.41	0.14000	N	0.054	0.02559	-0.9030	0.47673	T	0.008	0.02884	T	10	0.044074178	0.03324	T	0.01746	0.39167	T	0.034	0.08419	.	.	0.0297737177859	0.01360	0.06647769961369218	0.06585	.	.	0.277226030827	0.07108	T	0.039795	0.25311	T	-0.506214	0.00528	T	-0.759412	0.03134	T	0.0113760326885017	0.00169	T	0.437256	0.12012	T	0.0351898	0.04095	0.038276505	0.03663	0.0351898	0.04095	0.038276505	0.03662	-3.373	0.14695	T	0.3483011196964254	0.44568	0.116	0.23535	B	.	.	0.685508	0.10542	7.251	0.64740332263329248	0.07577	0.14957	0.18672	N	AEFDBI	0.174664	0.30180	N	-0.895543383694791	0.10947	0.5257646	-0.890923514249118	0.12309	0.6323827	2.115866703409E-4	0.05997	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.35	1.54	0.22290	0.840000	0.27253	1.320000	0.25596	0.549000	0.26987	0.011000	0.18532	0.001000	0.17328	0.062000	0.16114	0.0:0.5084:0.1749:0.3166	4.761	0.12481	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	1784.33	36	chr8	10613181	.	C	G	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=909;ExcessHet=0;FS=4.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.01;SOR=0.431	GT:AD:DP:GQ:PL	0/1:96,74:170:99:1798,0,2466	18	0	1	0
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1370.11	35	chr8	12186441	.	C	*	1370.11	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=959;ExcessHet=1.3;FS=3.327;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=35.23;MQRankSum=-1.417;QD=3;ReadPosRankSum=-1.339;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,25:99:99:.:.:827,0,3032:.	18	0	1	0
chr8	23447844	23447844	T	C	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon4:c.A248G:p.N83S,ENTPD4:NM_004901:exon4:c.A248G:p.N83S	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0028	0.00379393	0.0054	0.0008	0.0029	0.0001	0.0302	0.0050	0.0099	0.0041	0.0049158	760	154602	rs142458188	0.0048	0.0048	0.0047	0.0048	0.0068	0.0047	0.0046	0.0051	0.0045	0.0007	0.0047	0.0024	2.519e-05	0.0291	0.0068	0.0040	0.0049	0.0040	0.0051	0.0052	0.0039	0.0064	0.0042	0.0048	0.0047	0.0038	0.0036	0.0005	0	0.0039	0.0020	0	0.0358	0.0102	0.0042	0.0071	0.0025	0.519	0.08286	T	0.725	0.05256	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	N	0.117593	0.99542	0.42685	D	-0.805	0.01590	N	2.87	0.10386	T	-0.26	0.12661	N	0.131	0.12627	-0.9673	0.37754	T	0.009	0.03140	T	10	0.0025058389	0.00038	T	.	.	.	0.164	0.42212	.	.	0.223847106136	0.22009	0.1341201395512565	0.13336	0.0755080540532	0.08473	0.349559098482	0.17857	T	0.007928	0.25359	T	-0.706784	0.00033	T	-0.787482	0.02235	T	0.00219053248014786	0.00023	T	0.740726	0.35986	T	0.05279877	0.09900	0.04469123	0.05848	0.05279877	0.09900	0.04469123	0.05847	-2.111	0.04610	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	1.188987	0.15801	12.11	0.90707489596299118	0.19958	0.36718	0.25598	N	AEFGBCI	0.124364	0.24039	N	-0.630456802520704	0.18033	0.9330396	-0.426323289753255	0.24227	1.325572	0.999986064151588	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	3.34	0.37357	0.044000	0.13876	-0.138000	0.11547	0.665000	0.62972	0.181000	0.24076	0.723000	0.26366	0.998000	0.85391	0.0:0.2369:0.0:0.7631	7.595	0.27209	820	0.40914	.;.;.;.	.	.	.	.	rs142458188	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.025862	0.003049	0.003788	0.02632	1319.33	35	chr8	23447844	.	T	C	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.395;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.516;SOR=0.646	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1333,0,1312	18	0	1	0
chr8	37841925	37841925	G	A	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon19:c.G3587A:p.C1196Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0201677	0.0032	0	0	0.0976	0	0.0004	0.0169	0.0008	0.0026455	409	154602	rs75336000	0.0016	0.0017	0.0016	0.0016	0.0504	0.0015	0.0015	0.0485	0.0477	6.786e-05	0.0001	0.0016	0.0504	0	0.0004	2.326e-05	0.0049	0.0014	0.0029	0.0029	0.0029	0.0030	0.0751	0.0027	0.0026	0.0689	0.0665	0.0003	0	0.0011	0.0012	0.0751	0	0	0	0.0038	0.0033	0.077	0.43393	T	0.068	0.44106	T	0.101	0.25775	B	0.086	0.29521	B	0.146085	0.18124	N	0.559838	1	0.08975	N	.	.	.	0.41	0.57100	T	-0.88	0.23808	N	0.155	0.16028	-1.0315	0.19970	T	0.074	0.30023	T	10	0.0017756224	0.00023	T	.	.	.	0.021	0.04004	0.175	0.08135	0.18995819373	0.18626	0.19438956763716564	0.19356	2.29754585724	0.96441	0.785690784454	0.79788	T	0.13111	0.46041	T	-0.56304	0.00243	T	-0.519856	0.20309	T	0.0196590323333357	0.00669	T	0.472753	0.14261	T	0.08107291	0.18609	0.09519612	0.22567	0.08107291	0.18609	0.09519612	0.22566	-4.026	0.24192	T	.	.	0.147	0.32348	B	.;.	.;.	1.059822	0.14413	10.99	0.95540882678186545	0.27187	0.75614	0.37031	D	AEFDBHCIJ	0.268057	0.38463	N	-0.767464184627936	0.14164	0.7033284	-0.71833697012916	0.16504	0.8734041	0.999999919457244	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.503968	0.08637	0	0.592323	0.36904	0	.	.	4.16	2.26	0.27418	3.421000	0.52501	5.343000	0.48351	-0.394000	0.05329	0.990000	0.36992	1.000000	0.68203	0.280000	0.24017	0.0:0.1989:0.5955:0.2056	6.673	0.22265	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0.007289	0.000000	0.000000	0.000000	0.000000	0.003937	0.02632	532.33	43	chr8	37841925	.	G	A	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.654;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.18;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,26:66:99:546,0,977	18	0	1	0
chr8	37899275	37899275	A	G	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon1:c.T167C:p.V56A,RAB11FIP1:NM_025151:exon1:c.T167C:p.V56A	.	417	1104	1	0	0	1	0.000452694	.	.	.	2356086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.792	0.309889922103	.	.	7.173e-05	0	0	0	0	4.338e-05	0	0.0003	3.88e-05	6	154602	rs774731084	3.16e-05	3.215e-05	2.324e-05	4.003e-05	0.0007	2.422e-05	2.166e-05	0.0002	0.0001	0	4.498e-05	0.0005	0	0	0.0007	9.004e-06	6.647e-05	0.0002	2.627e-05	2.625e-05	2.571e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0.0009	0	0	0	0	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000037	0.55875	D	0.000000	0.999999	0.81001	D	3.115	0.87836	M	-0.96	0.75553	T	-2.68	0.57762	D	0.807	0.80278	0.425	0.89467	D	0.629	0.86964	D	10	0.7821312	0.77942	D	0.30989	0.91152	D	0.792	0.93148	0.687	0.82462	0.937942229274	0.93729	0.6362453269027376	0.63558	2.52955605465	0.97769	0.94207918644	0.99530	D	0.113917	0.43133	T	0.0973046	0.64000	D	0.161674	0.80910	D	0.821499168872833	0.47884	D	0.865813	0.58144	D	0.5414319	0.69477	0.71399647	0.83122	0.5414319	0.69478	0.71399647	0.83123	-12.08	0.85238	D	.	.	0.936	0.89154	P	.;.	.;.	5.053308	0.84183	28.2	0.99805680478577408	0.88995	0.96096	0.67515	D	ALL	0.838014	0.75558	D	0.826116455844144	0.87710	9.31302	0.75536188603446	0.86555	8.927521	1.0	0.98316	0.437478	0.07067	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	5.05	5.05	0.67566	9.018000	0.93173	10.973000	0.84547	0.752000	0.88150	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	14.489	0.67218	784	0.47045	.;C2 domain|C2 domain|C2 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	1144.33	36	chr8	37899275	.	A	G	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=777;ExcessHet=0;FS=1.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.169;SOR=0.883	GT:AD:DP:GQ:PL	0/1:82,54:136:99:1158,0,1985	18	0	1	0
chr8	39107706	39107706	-	CGCGTCCC	exonic	ADAM32	.	frameshift insertion	ADAM32:NM_001313994:exon1:c.32_33insCGCGTCCC:p.W17Rfs*49	.	429	1090	3	0	0	3	0.00137426	.	.	.	3226534	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0010	0	0	0	0	0.0024	0	0.0003	0.0001537	4	26028	rs200029015	0.0028	0.0028	0.0028	0.0027	0.0146	0.0027	0.0027	0.0136	0.0132	0.0017	0.0003	0.0020	0.0146	0.0473	0.0016	0.0007	0.0027	0.0002	0.0055	0.0056	0.0031	0.0080	0.0070	0.0052	0.0051	0.0052	0.0046	0.0012	0	0.0005	0.0029	0.0070	0.0568	0	0.0020	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1816.29	35	chr8	39107706	.	G	GCGCGTCCC	1816.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=754;ExcessHet=0;FS=7.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.298;SOR=1.378	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1830,0,2549	18	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	253.95	36	chr8	39963621	.	A	G	253.95	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.5;DP=2573;ExcessHet=0.7564;FS=95.1;InbreedingCoeff=-0.1267;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.07;SOR=11.761	GT:AD:DP:GQ:PL	0/1:163,46:209:54:54,0,2909	15	0	4	0
chr8	43159044	43159044	C	T	exonic	HGSNAT	.	nonsynonymous SNV	HGSNAT:NM_001363227:exon4:c.C493T:p.P165S,HGSNAT:NM_001363228:exon4:c.C493T:p.P165S,HGSNAT:NM_152419:exon4:c.C493T:p.P165S	Mucopolysaccharidosis type IIIC (Sanfilippo C), Autosomal recessive;Retinitis pigmentosa 73, Autosomal recessive	0	1514	8	0	0	8	0.00263505	0.9585	0.714	YES	899648	Mucopolysaccharidosis,_MPS-III-C|not_provided|Retinal_dystrophy|Retinitis_pigmentosa_73	MONDO:MONDO:0009657,MedGen:C0086649,OMIM:252930,Orphanet:581,Orphanet:79271|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0014687,MedGen:C4225287,OMIM:616544,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.703	.	.	.	8.33e-05	0.0001	8.767e-05	0.0001	0	7.523e-05	0	0.0001	7.12e-05	11	154602	rs371273730	7.393e-05	7.388e-05	5.857e-05	8.945e-05	0.0007	6.253e-05	5.811e-05	0.0002	0.0001	0.0003	6.741e-05	7.66e-05	0.0001	0	0.0007	5.938e-05	8.288e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.238e-05	0.0003	0.0002	0.0003	0	0.0005	0	0.0002	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.056745	1	0.81001	D	.	.	.	-3.72	0.95422	D	-6.67	0.92346	D	0.714	0.71676	0.989	0.97007	D	0.900	0.96675	D	10	0.8813038	0.87442	D	0.382511	0.93004	D	0.703	0.89330	.	.	0.929630812274	0.92891	0.8456842941324404	0.84529	0.470913154045	0.46357	0.432508409023	0.29552	T	.	.	.	0.182487	0.72271	D	0.288782	0.87596	D	0.457672581617127	0.31080	T	0.671133	0.27986	T	.	.	.	.	.	.	.	.	-8.722	0.65890	D	.	.	0.399	0.59533	A	.	.	5.289576	0.88810	29.7	0.99908500115591303	0.97875	0.90976	0.52619	D	AEFBI	0.667682	0.63572	D	0.623508672321141	0.74662	6.171238	0.591835306753027	0.74350	6.122631	0.997678061929211	0.35891	0.706548	0.73137	0	0.708844	0.79440	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.113000	0.57593	4.050000	0.41500	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	15.005	0.71165	478	0.77585	.	.	.	.	.	.	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	841.33	33	chr8	43159044	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=787;ExcessHet=0;FS=4.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0.445;SOR=0.342	GT:AD:DP:GQ:PL	0/1:55,39:94:99:855,0,1196	18	0	1	0
chr8	56113883	56113883	G	T	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.C100A:p.L34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.101259548939	.	.	4.317e-05	0	0	0	0	1.577e-05	0	0.0002	3.23e-05	5	154602	rs773891252	2.627e-05	2.668e-05	2.203e-05	3.055e-05	0.0001	1.953e-05	1.71e-05	8.155e-05	6.36e-05	0	0	0	0	0	0	2.075e-05	5.027e-05	0.0001	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.093	0.31532	T	0.171	0.30339	T	0.947	0.53479	P	0.556	0.49411	P	0.256420	0.15402	U	0.511992	1	0.08975	N	2.255	0.64187	M	-1.52	0.81478	D	-0.16	0.09460	N	0.251	0.28381	-0.4500	0.70400	T	0.414	0.76122	T	10	0.18871665	0.34439	T	0.10126	0.77403	D	0.230	0.53062	.	.	0.819922135072	0.81822	0.2585832998720148	0.25772	1.39758405531	0.85125	0.482357412577	0.36382	T	0.306111	0.67833	T	-0.250683	0.14014	T	-0.328566	0.41628	T	0.252375096082687	0.22979	T	0.257674	0.04066	T	0.0972282	0.22915	0.09232672	0.21751	0.0972282	0.22915	0.09232672	0.21751	-5.924	0.45639	T	.	.	0.1	0.17146	B	.	.	2.786645	0.36622	20.3	0.99141007199463083	0.53546	0.13224	0.17734	N	AEFDBI	0.069100	0.13661	N	-0.0652588284198748	0.38923	2.287269	-0.173348174043337	0.32520	1.851001	0.986134421251214	0.31010	0.59774	0.34471	0	0.627178	0.54094	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	4.93	4.93	0.64394	0.621000	0.24112	5.556000	0.48906	0.672000	0.70159	0.433000	0.26432	1.000000	0.68203	0.035000	0.13729	0.0791:0.1401:0.6357:0.145	5.581	0.16531	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1203.33	35	chr8	56113883	.	G	T	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.432;DP=795;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.598;SOR=0.848	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1217,0,1716	18	0	1	0
chr8	63187516	63187516	A	G	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.A1352G:p.E451G,YTHDF3:NM_001277817:exon4:c.A1352G:p.E451G,YTHDF3:NM_001277818:exon4:c.A1352G:p.E451G,YTHDF3:NM_152758:exon4:c.A1505G:p.E502G,YTHDF3:NM_001277813:exon5:c.A1514G:p.E505G,YTHDF3:NM_001277814:exon5:c.A1514G:p.E505G,YTHDF3:NM_001277815:exon5:c.A1352G:p.E451G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117712730528	.	.	1.659e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765589874	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.25827	T	0.415	0.35204	B	0.18	0.35854	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.38541	.	.	.	.	.	.	.	0.22182629	0.38918	T	0.117713	0.79756	D	.	.	.	.	0.0934897674506	0.08844	0.5697226373194538	0.56900	0.659893368423	0.58832	0.691929399967	0.65983	T	0.047524	0.27747	T	-0.135877	0.30548	T	-0.196286	0.54998	T	.	.	.	0.918208	0.70605	D	0.3094542	0.53739	0.6462923	0.79318	0.3094542	0.53739	0.6462923	0.79319	-7.756	0.59396	D	.	.	0.562	0.71892	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.132551	0.85898	28.7	0.89853885405268685	0.19160	0.96835	0.71196	D	AEFBCI	0.941392	0.94460	D	.	.	.	.	.	.	0.999999999990052	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.55	5.55	0.83298	9.274000	0.94942	11.268000	0.91307	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.684	0.77150	868	0.31772	YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH 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	1547.33	35	chr8	63187516	.	A	G	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.92;DP=746;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.26;SOR=0.809	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1561,0,1762	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,22:65:35:.:.:35,0,657:.	8	0	10	1
chr8	78686521	78686521	G	A	exonic	ZC2HC1A	.	nonsynonymous SNV	ZC2HC1A:NM_001362969:exon4:c.G265A:p.A89T,ZC2HC1A:NM_016010:exon4:c.G265A:p.A89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0713750066528	.	.	9.248e-06	0	0	0	0	0	0	6.789e-05	6.5e-06	1	154602	rs780566556	2.861e-06	4.104e-06	1.42e-06	4.324e-06	4.106e-05	6.7e-07	4.5e-07	1.09e-05	5.02e-06	0	0	0	0	0	0	0	1.749e-05	4.106e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.636	0.07059	T	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	0.78	0.49358	T	-1.04	0.27259	N	0.838	0.83371	-0.3177	0.74486	T	0.357	0.71959	T	9	0.6892996	0.71756	D	0.071375	0.71252	D	0.271	0.58633	0.294	0.25720	0.117191471859	0.11215	0.2848400355259639	0.28397	0.480512164529	0.47068	0.8236297369	0.85585	D	0.030231	0.21478	T	-0.0741494	0.40660	T	-0.128952	0.61060	T	0.87306022644043	0.52292	D	0.854615	0.54143	D	0.19517447	0.41296	0.24300578	0.49734	0.19517447	0.41296	0.24300578	0.49733	-4.109	0.25423	T	.	.	0.348	0.56462	A	.	.	5.164947	0.86553	28.9	0.99892234818599135	0.96589	0.98733	0.86156	D	AEFBI	0.869850	0.79056	D	0.891179443012888	0.91321	10.82467	0.854894066838964	0.93300	11.95192	0.999999695453508	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	9.347000	0.96461	11.738000	0.95134	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.429	0.94749	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1264.33	33	chr8	78686521	.	G	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.908;DP=790;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.282;SOR=0.625	GT:AD:DP:GQ:PL	0/1:80,62:142:99:1278,0,1941	18	0	1	0
chr8	97644666	97644666	G	A	exonic	MTDH	.	nonsynonymous SNV	MTDH:NM_001363136:exon1:c.G160A:p.V54M,MTDH:NM_001363137:exon1:c.G160A:p.V54M,MTDH:NM_001363138:exon1:c.G160A:p.V54M,MTDH:NM_001363139:exon1:c.G160A:p.V54M,MTDH:NM_178812:exon1:c.G160A:p.V54M	.	423	1095	4	0	0	4	0.00182315	.	.	.	700691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	0.114404321056	0.0039	0.00119808	0.0033	0.0009	0.0017	0	0.0023	0.0050	0.0025	0.0013	0.0032147	497	154602	rs140652237	0.0054	0.0053	0.0054	0.0053	0.0064	0.0053	0.0052	0.0063	0.0062	0.0009	0.0018	0.0008	2.555e-05	0.0023	0.0011	0.0064	0.0051	0.0015	0.0035	0.0035	0.0039	0.0031	0.0063	0.0032	0.0031	0.0058	0.0056	0.0011	0	0.0018	0.0020	0	0.0012	0.0034	0.0063	0.0024	0.0012	0.056	0.38185	T	0.085	0.41074	T	0.815	0.45525	P	0.515	0.48040	P	0.055211	0.22660	N	0.419653	0.873911	0.29155	N	1.1	0.28011	L	2.94	0.09728	T	-0.48	0.15379	N	0.44	0.56833	-1.0822	0.06927	T	0.016	0.06664	T	10	0.009610981	0.00216	T	0.114404	0.79324	D	0.049	0.13647	.	.	0.246926113748	0.24311	0.25403209692120154	0.25317	0.719158927249	0.62122	0.843464791775	0.88622	D	0.057113	0.30476	T	-0.477868	0.00761	T	-0.456589	0.26971	T	0.0461190604930318	0.04806	T	0.882612	0.60317	D	0.2050089	0.42629	0.24680233	0.50198	0.2050089	0.42629	0.24680233	0.50197	-6.46	0.49976	T	.	.	0.243	0.50799	B	.;.	.;.	3.860599	0.55989	23.7	0.99808343618101492	0.89264	0.30538	0.24108	N	ALL	0.252625	0.37227	N	0.182486033470972	0.50359	3.22659	0.292443229291511	0.55096	3.673154	0.999999984686911	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.48	4.55	0.55429	1.047000	0.29976	6.053000	0.53107	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1562:0.8438:0.0	14.974	0.70906	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	0.002520	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	406.33	26	chr8	97644666	.	G	A	406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=667;ExcessHet=0;FS=2.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.13;SOR=0.557	GT:AD:DP:GQ:PL	0/1:22,17:39:99:420,0,608	18	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.05263	1216.83	35	chr8	97930977	.	C	T	1216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.869;DP=709;ExcessHet=0.119;FS=0.775;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.53;SOR=0.544	GT:AD:DP:GQ:PL	0/1:31,17:48:99:457,0,906	17	0	2	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:105,36:146:30:30,0,1632	4	0	12	3
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H,PHF20L1:NM_001362971:exon6:c.G616C:p.D206H,PHF20L1:NM_198513:exon6:c.G616C:p.D206H,PHF20L1:NM_016018:exon7:c.G694C:p.D232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	205.76	51	chr8	132804005	.	G	C	205.76	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.755;DP=1004;ExcessHet=0.7564;FS=127.828;InbreedingCoeff=-0.2588;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.111;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,15:64:99:.:.:113,0,855:.	9	0	4	6
chr8	143726160	143726160	T	C	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.A3301G:p.T1101A	Amelogenesis imperfecta, type III, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2204143	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.004659366878	.	.	5.588e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs782218389	5.823e-05	5.814e-05	5.726e-05	5.922e-05	7.197e-05	4.817e-05	4.438e-05	5.887e-05	5.453e-05	0	0	0	0	0	0	7.197e-05	3.316e-05	3.482e-05	3.943e-05	3.94e-05	2.57e-05	5.382e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.215	0.19293	T	0.753	0.04754	T	0.0	0.02946	B	0.001	0.04355	B	0.694222	0.10149	N	0.809804	0.999965	0.18878	N	-0.345	0.03330	N	2.52	0.14160	T	-1.27	0.31981	N	0.039	0.01274	-0.9308	0.44021	T	0.018	0.07659	T	10	0.022683978	0.00573	T	0.004659	0.11566	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.1698519390704436	0.16905	0.31902460924	0.34116	0.676550388336	0.63775	T	0.005558	0.05012	T	-0.500614	0.00567	T	-0.741539	0.03826	T	0.00942633387785414	0.00121	T	.	.	.	0.05125973	0.09387	0.057840783	0.10586	0.05125973	0.09386	0.057840783	0.10586	-2.152	0.03814	T	.	.	0.067	0.02488	B	.	.	0.426973	0.07975	4.688	0.71367510579355486	0.09605	0.11493	0.16670	N	AEFDGBCI	0.068753	0.13578	N	-1.05911863620291	0.07410	0.344131	-1.05880433533059	0.08524	0.419537	0.999899382889367	0.45129	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	-3.86	0.03951	0.274000	0.18443	.	.	-0.122000	0.13826	0.004000	0.16614	0.000000	0.08366	0.977000	0.56843	0.0:0.4346:0.1181:0.4473	7.971	0.29285	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	47	chr8	143726160	.	T	C	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=792;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-2.445;SOR=0.983	GT:AD:DP:GQ:PL	0/1:41,29:70:99:769,0,1000	18	0	1	0
chr9	5769034	5769034	C	T	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon21:c.C3091T:p.R1031W,RIC1:NM_001135920:exon22:c.C3202T:p.R1068W,RIC1:NM_020829:exon22:c.C3202T:p.R1068W	.	429	1088	4	1	0	6	0.00274977	.	.	.	3319525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00903044626649	0.0002	0.000199681	0.0001	9.932e-05	0.0004	0	0	9.087e-05	0	6.064e-05	9.06e-05	14	154602	rs61744825	9.646e-05	9.645e-05	0.0001	9.076e-05	0.0017	8.31e-05	7.85e-05	0.0009	0.0007	0.0002	0.0004	0.0008	0	0	0.0017	6.115e-05	0.0002	3.478e-05	9.196e-05	9.188e-05	0.0001	6.716e-05	0.0003	5.526e-05	4.363e-05	0.0001	8.284e-05	2.407e-05	0	0.0003	0.0003	0	0	0.0068	5.88e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	.	.	.	-6.37	0.92217	D	0.893	0.89353	-0.4631	0.69964	T	0.378	0.73564	T	9	0.5035053	0.61685	D	0.00903	0.23774	T	0.367	0.68670	.	.	0.375026046212	0.37117	0.8652784931447652	0.86492	.	.	0.833667099476	0.87125	D	0.332945	0.70286	T	0.210493	0.74876	D	0.380738	0.91457	D	0.410001183346424	0.29318	T	0.988826	0.97187	D	0.7668469	0.81859	0.71939933	0.83434	0.7668469	0.81860	0.71939933	0.83435	-9.901	0.73316	D	.	.	0.919	0.84145	P	.;.;.	.;.;.	5.339931	0.89600	31	0.9990618819864705	0.97651	0.97715	0.76612	D	AEFBI	0.773583	0.70755	D	0.456801805390537	0.64591	4.716994	0.537640022169957	0.70541	5.52052	0.999999999999976	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	4.491000	0.60048	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.095	0.97838	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	939.33	37	chr9	5769034	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=719;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.745;SOR=0.857	GT:AD:DP:GQ:PL	0/1:55,39:94:99:953,0,1427	18	0	1	0
chr9	19346596	19346596	T	G	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_017925:exon22:c.T3680G:p.V1227G,DENND4C:NM_001330640:exon23:c.T3827G:p.V1276G	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0150813085479	0.0015	0.00299521	0.0014	0.0051	0.0009	0.0001	0	0.0014	0.0011	0.0006	0.0013907	215	154602	rs34267952	0.0009	0.0009	0.0009	0.0010	0.0045	0.0009	0.0009	0.0037	0.0035	0.0042	0.0006	0.0047	0	0	0.0045	0.0008	0.0015	0.0007	0.0022	0.0022	0.0020	0.0024	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0.0066	0.0010	0.0075	0.0002	0	0.0034	0.0011	0.0019	0.0006	.	.	.	0.175	0.34359	T	.	.	.	.	.	.	0.917302	0.08511	N	0.964820	0.999992	0.81001	D	.	.	.	3.41	0.05574	T	.	.	.	0.239	0.26957	-1.1563	0.00850	T	0.087	0.33802	T	10	0.007730067	0.00175	T	0.015081	0.35602	T	.	.	.	.	0.367229591828	0.36328	0.5308378768336856	0.53007	0.04256783019	0.04588	0.287085205317	0.08499	T	0.025701	0.19163	T	-0.316632	0.07178	T	-0.226918	0.52069	T	0.0231665818017084	0.01043	T	0.550145	0.20372	T	0.1230204	0.28895	0.14525862	0.34457	0.1230204	0.28895	0.14525862	0.34456	-2.027	0.03284	T	.	.	0.284	0.51669	B	.;.;.	.;.;.	3.432991	0.47720	22.5	0.99236170915590027	0.56373	0.97622	0.75966	D	AEFBI	0.434729	0.49566	N	0.235373780766802	0.52921	3.463339	0.280837915191587	0.54422	3.607163	0.952485612769045	0.28019	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	4.68	0.58319	1.738000	0.37831	2.350000	0.32308	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0693:0.0:0.9307	11.551	0.49972	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	2246.33	34	chr9	19346596	.	T	G	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=787;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.952;SOR=0.632	GT:AD:DP:GQ:PL	0/1:88,85:173:99:2260,0,2270	18	0	1	0
chr9	20414312	20414312	-	CTGCTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAGCAG:p.S187_T188insSS,MLLT3:NM_004529:exon5:c.533_534insCAGCAG:p.S190_T191insSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0003	0.0008	0.0002	0.0006	5.767e-05	0.0006	0.0003	0.0005	0.0003	0.0012	0.0012	0.0013	0.0011	0.0026	0.0010	0.0010	0.0019	0.0017	0.0013	0	0.0026	0	0.0006	0	0	0.0012	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5204.47	34	chr9	20414312	.	A	ACTGCTG	5204.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=871;ExcessHet=1.3;FS=0.512;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0;QD=18.33;ReadPosRankSum=0.17;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,26:56:99:0|1:20414312_A_ACTGCTG:925,0,1017:20414312	18	0	1	0
chr9	21206606	21206606	C	G	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G492C:p.W164C	.	429	1073	18	2	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	.	0.0098	0.00459265	0.0079	0.0023	0.0052	0.0001	0.0017	0.0122	0.0055	0.0024	0.0075484	1167	154602	rs28368148	0.0100	0.0100	0.0101	0.0099	0.0142	0.0099	0.0098	0.0117	0.0116	0.0019	0.0048	0.0104	0	0.0019	0.0142	0.0119	0.0083	0.0023	0.0075	0.0075	0.0075	0.0075	0.0124	0.0071	0.0070	0.0117	0.0114	0.0020	0.0363	0.0054	0.0135	0.0002	0.0014	0.0136	0.0124	0.0052	0.0046	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.875	0.95948	H	0.95	0.43279	T	-12.4	0.99725	D	0.631	0.64478	-0.2456	0.76478	T	0.260	0.63099	T	10	0.01604718	0.00337	T	.	.	.	0.439	0.74306	0.918	0.98496	0.646423635972	0.64349	0.44082563080357867	0.43999	0.612382906504	0.55836	0.520053982735	0.41634	T	0.179058	0.52992	T	-0.381522	0.03048	T	-0.307832	0.43892	T	0.101624393453647	0.12535	T	0.993026	0.97738	D	0.8966187	0.91082	0.90249056	0.95153	0.8966187	0.91084	0.90249056	0.95153	-13.07	0.89649	D	.	.	0.892	0.82214	P	.	.	3.135943	0.42394	21.5	0.98962224787754005	0.49364	0.86592	0.45905	D	AEFI	0.205115	0.33150	N	0.647053327544148	0.76176	6.43878	0.512107039558338	0.68803	5.270837	0.034327583485472	0.14149	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	3.75	0.42236	2.592000	0.45836	.	.	0.470000	0.21925	1.000000	0.71638	0.001000	0.17328	0.923000	0.45890	0.0:1.0:0.0:0.0	12.916	0.57603	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008457	0.005051	0.006793	0.008197	0.050000	0.017241	0.018293	0.003788	0.02632	5569.33	33	chr9	21206606	.	C	G	5569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=1692;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.54;MQRankSum=-0.756;QD=12.63;ReadPosRankSum=-0.037;SOR=0.821	GT:AD:DP:GQ:PL	0/1:211,230:441:99:5583,0,5375	18	0	1	0
chr9	39149856	39149856	C	-	exonic	CNTNAP3	.	frameshift deletion	CNTNAP3:NM_033655:exon10:c.1599delG:p.L534Wfs*9	.	485	1006	31	0	0	31	0.0151738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	rs1453339510	0.0004	0.0051	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0006	0.0001	0.0009	0.0004	0	0.0001	0.0002	0.0004	0.0004	0.0001	0.0003	0.0022	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0011	0.0005	0	0	0.0002	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	52.32	15	chr9	39149855	.	GC	G	52.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=241;ExcessHet=0;FS=0;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.026;MQ=40.52;MQRankSum=-1.611;QD=6.54;ReadPosRankSum=0;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:39149855_GC_G:66,0,246:39149855	18	0	1	0
chr9	39149858	39149858	C	A	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon10:c.G1597T:p.A533S	.	485	1003	34	0	0	34	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0108717051771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484419033	0.0004	0.0052	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0002	0.0008	0.0005	0	9.564e-05	0	0.0004	0.0004	8.299e-05	0.0002	0.0022	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0.0011	0.0003	0	0	0.0002	0	0.0003	0	0	1.0	0.02161	T	0.774	0.04619	T	0.001	0.15535	B	0.002	0.13708	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-1.03	0.76430	T	0.2	0.06138	N	0.062	0.06322	-0.9820	0.34538	T	0.172	0.51341	T	9	0.052612126	0.05321	T	0.010872	0.27894	T	0.162	0.41843	.	.	0.433600339574	0.42977	0.3437098445241947	0.34284	.	.	0.677286505699	0.63879	T	3.38E-4	0.00092	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.015555230591159	0.00353	T	0.561544	0.19673	T	0.03978719	0.05560	0.041134737	0.04607	0.03978719	0.05559	0.041134737	0.04607	-5.51	0.41961	T	.	.	0.068	0.05404	B	.;.;.;.	.;.;.;.	-0.079541	0.03764	0.786	0.91750366764953561	0.21049	0.04865	0.10603	N	AEFCI	0.055787	0.10258	N	-1.06548804724725	0.07287	0.3380553	-1.03089460491369	0.09110	0.4514132	7.75493372009555E-5	0.04552	0.615465	0.37627	0	0.588015	0.36545	0	0.685742	0.62368	0	0.655142	0.61905	0	.	.	2.95	-0.119	0.12883	-1.304000	0.02849	-15.477000	0.00355	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.758000	0.36073	0.1852:0.4881:0.0:0.3267	3.478	0.07157	988	0.01987	Laminin G domain;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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.35	16	chr9	39149858	.	C	A	52.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=40.52;MQRankSum=-1.611;QD=6.54;ReadPosRankSum=0;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:39149855_GC_G:66,0,246:39149855	18	0	1	0
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	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	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1624.33	42	chr9	68780918	.	G	A	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=805;ExcessHet=0;FS=3.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.69;SOR=0.443	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1638,0,1604	18	0	1	0
chr9	81947394	81947394	A	G	exonic	SPATA31D3	.	nonsynonymous SNV	SPATA31D3:NM_207416:exon4:c.A2141G:p.N714S	.	569	950	3	0	0	3	0.00157646	.	.	.	3918945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333610161	0.0001	9.174e-05	6.595e-05	0.0002	0.0012	9.48e-05	8.816e-05	0.0010	0.0009	9.019e-05	7.067e-05	0	6.216e-05	0	0.0006	2.916e-05	0.0001	0.0012	0.0002	0.0002	0.0003	0.0002	0.0030	0.0001	0.0001	0.0010	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0030	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.2	0.00838	N	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	0.010542542	0.00234	T	.	.	.	.	.	.	.	.	.	0.01590559988925885	0.01546	.	.	0.50077688694	0.38937	T	7.66E-4	0.00362	T	.	.	.	.	.	.	.	.	.	0.219778	0.02813	T	0.049225528	0.08706	0.066313766	0.13565	0.049225528	0.08706	0.066313766	0.13564	-2.934	0.09487	T	.	.	0.069	0.02993	B	.	.	-1.392670	0.00365	0.007	0.32314085825609545	0.01866	0.00027	0.00265	N	AEFI	.	.	.	.	.	.	.	.	.	3.22789935188363E-5	0.03775	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	2.01	-1.7	0.07721	-2.866000	0.00792	-20.000000	0.00162	-1.088000	0.01543	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4995:0.211:0.2896:0.0	3.572	0.07472	939	0.14249	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	71.34	14	chr9	81947394	.	A	G	71.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=5.1;ReadPosRankSum=-0.354;SOR=0.188	GT:AD:DP:GQ:PL	0/1:10,4:14:85:85,0,274	18	0	1	0
chr9	88129634	88129634	A	G	exonic	SPATA31C2	.	stoploss	SPATA31C2:NM_001166137:exon4:c.T3403C:p.X1135Q,SPATA31C2:NM_001350978:exon4:c.T3403C:p.X1135Q	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1433687331	0.0009	0.0013	0.0009	0.0009	0.0032	0.0009	0.0008	0.0021	0.0017	0.0005	0.0017	0.0004	0.0004	0.0004	0.0032	0.0008	0.0017	0.0016	0.0020	0.0031	0.0022	0.0019	0.0030	0.0019	0.0018	0.0027	0.0026	0.0013	0.0044	0.0018	0.0012	0.0008	0.0002	0.0068	0.0030	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	162.33	33	chr9	88129634	.	A	G	162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.34;DP=809;ExcessHet=0;FS=36.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.93;MQRankSum=-6.081;QD=1.01;ReadPosRankSum=-3.659;SOR=4.336	GT:AD:DP:GQ:PL	0/1:140,20:160:99:176,0,3635	18	0	1	0
chr9	88131464	88131464	G	A	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.C1573T:p.P525S,SPATA31C2:NM_001350978:exon4:c.C1573T:p.P525S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.101e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs747191289	8.427e-05	8.414e-05	8.18e-05	8.676e-05	0.0002	7.214e-05	6.76e-05	9.117e-05	8.527e-05	0	2.237e-05	0	0	0	0.0002	0.0001	3.322e-05	0	0.0001	0.0001	0.0001	6.72e-05	0.0002	6.513e-05	5.324e-05	0.0001	0.0001	2.408e-05	0	0	0	0	0	0	0.0002	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	1736.33	50	chr9	88131464	.	G	A	1736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.95;DP=1077;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.9;MQRankSum=-1.063;QD=11.35;ReadPosRankSum=1.27;SOR=0.855	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1750,0,2198	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	0/1:236,120:388:99:519,0,3966	1	0	18	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R	.	422	1055	45	0	0	45	0.0208817	.	.	.	3210553	COL15A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	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	0.017154	0.015306	0.014946	0.011696	0.050000	0.000000	0.024540	0.030303	0.02632	1956.33	34	chr9	99054627	.	A	G	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=809;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.59;SOR=0.542	GT:AD:DP:GQ:PL	0/1:98,83:181:99:1970,0,2333	18	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,41:142:99:0|1:106974250_T_C:481,0,2764:106974250	11	0	6	2
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3630.75	42	chr9	112416941	.	TGTGGTAG	T	3630.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.484;DP=796;ExcessHet=0.3672;FS=2.458;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.947;SOR=0.523	GT:AD:DP:GQ:PL	0/1:31,29:60:99:1095,0,1203	16	0	3	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|1:243,42:285:99:0|1:122724732_T_C:966,0,9907:122724732	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|1:236,37:273:99:0|1:122724732_T_C:843,0,9795:122724732	4	0	12	3
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	0/1:80,13:105:85:.:.:85,0,3067:.	5	0	12	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|1:99,11:110:3:0|1:127707149_T_C:3,0,4004:127707149	14	0	5	0
chr9	128846736	128846736	C	T	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001287390:exon3:c.G220A:p.E74K,KYAT1:NM_001352994:exon3:c.G220A:p.E74K,KYAT1:NM_001352995:exon3:c.G217A:p.E73K,KYAT1:NM_001352996:exon3:c.G217A:p.E73K	.	436	1082	3	1	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0024659487284	.	0.000798722	0.0014	0	0	0	.	0.0056	0	0	0.0010737	166	154602	rs138304702	0.0071	0.0067	0.0074	0.0068	0.0084	0.0070	0.0069	0.0083	0.0082	0.0012	0.0058	0.0026	2.799e-05	0.0028	0.0018	0.0084	0.0057	0.0002	0.0048	0.0048	0.0053	0.0043	0.0079	0.0045	0.0044	0.0073	0.0071	0.0015	0	0.0056	0.0020	0	0.0026	0.0103	0.0079	0.0061	0.0002	0.158	0.23905	T	0.884	0.03187	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.88	0.74689	T	0.27	0.04306	N	0.156	0.16168	-1.0291	0.20746	T	0.072	0.29259	T	8	0.0043369234	0.00088	T	0.002466	0.04868	T	0.061	0.17616	.	.	0.124217242631	0.12060	0.3786594630569003	0.37780	.	.	.	.	.	.	.	.	-0.577985	0.00198	T	-0.596615	0.13096	T	0.000246112109628947	0.00002	T	0.469153	0.13854	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.	.	0.032946	0.04515	1.215	0.091971458652037291	0.00088	0.00104	0.00666	N	AEFBI	0.026974	0.02121	N	-1.49759438220123	0.01867	0.08190066	-1.63305161396982	0.01466	0.0663173	0.999759943784169	0.42595	0.553676	0.25195	0	0.588015	0.36545	0	0.566861	0.19136	0	0.567892	0.33627	0	.	.	0.959	-1.92	0.07203	-0.629000	0.05605	-1.083000	0.06383	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4542:0.0:0.5458	4.717	0.12278	867	0.32089	.	ENDOG|PKN3	Colon_Transverse|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	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	1064.33	39	chr9	128846736	.	C	T	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.35;SOR=0.735	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1078,0,1052	18	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.02632	2268.33	40	chr9	129619764	.	T	C	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=894;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.692;SOR=0.546	GT:AD:DP:GQ:PL	0/1:138,96:234:99:2282,0,3394	18	0	1	0
chr9	136459504	136459504	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon15:c.C5243T:p.A1748V,SEC16A:NM_014866:exon16:c.C5243T:p.A1748V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0086202225745	.	.	4.657e-05	0.0002	0	0	0	2.89e-05	0	9.276e-05	1.94e-05	3	154602	rs774634391	2.268e-05	3.01e-05	2.459e-05	2.075e-05	3.53e-05	1.618e-05	1.423e-05	1.632e-05	1.386e-05	2.998e-05	0	0	2.532e-05	0	0	2.345e-05	3.326e-05	3.53e-05	1.314e-05	1.314e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.003814	0.34463	N	0.308951	0.992632	0.23850	N	.	.	.	2.12	0.40218	T	3.46	0.00167	N	0.273	0.32370	-0.9847	0.33903	T	0.034	0.14639	T	10	0.02700591	0.00855	T	0.00862	0.22779	T	0.081	0.23632	0.365	0.37199	0.043077524339	0.03247	0.36130385586486186	0.36044	0.0648354089335	0.07235	0.460502594709	0.33379	T	0.040032	0.25393	T	-0.258526	0.13073	T	-0.609131	0.12055	T	0.0475422069430351	0.05062	T	0.683132	0.33531	T	0.013631635	0.00065	0.034023393	0.02396	0.013631635	0.00065	0.034023393	0.02396	2.655	0.00029	T	.	.	0.049	0.00199	B	.;.;.;.;.;.	.;.;.;.;.;.	2.129594	0.27108	17.35	0.35026403759939673	0.02175	0.50711	0.28726	D	AEFDGBI	0.025631	0.01789	N	-0.880930855372942	0.11297	0.5444183	-0.668453094902106	0.17752	0.9452907	0.980791000357774	0.30177	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.36	0.37579	5.878000	0.69429	3.496000	0.38747	-0.065000	0.16512	1.000000	0.71638	0.990000	0.31317	0.956000	0.50813	0.8299:0.0:0.1701:0.0	8.467	0.32123	952	0.10565	Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2003.33	35	chr9	136459504	.	G	A	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.294;DP=766;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=2.06;SOR=0.542	GT:AD:DP:GQ:PL	0/1:48,87:135:99:2017,0,1000	18	0	1	0
chr9	137112113	137112113	T	C	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon9:c.A1049G:p.Q350R	.	.	.	.	.	.	.	.	0.9998	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.199824329897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231815522	2.055e-06	2.736e-06	1.364e-06	2.754e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	U	0.000000	0.999915	0.51042	D	3.555	0.93317	H	2.03	0.20959	T	-3.57	0.68999	D	0.899	0.89912	-0.5424	0.67073	T	0.199	0.55485	T	10	0.97584385	0.97349	D	0.199824	0.86674	D	0.515	0.79279	0.905	0.97985	0.6276227268	0.62458	0.9972204130908224	0.99720	0.4493125305	0.44725	0.627154707909	0.56742	T	0.22172	0.58537	T	0.216934	0.75486	D	0.073834	0.75166	D	0.9966099858284	0.89693	D	0.868313	0.57032	D	0.9814291	0.99217	0.92917615	0.97038	0.9814291	0.99217	0.92917615	0.97039	-11.88	0.84261	D	.	.	0.908	0.83302	P	.	.	5.082999	0.84841	28.4	0.99781189034445172	0.86780	0.89062	0.49306	D	AEFDGBHCI	0.836171	0.75397	D	0.695758482391129	0.79355	7.060076	0.547281656370363	0.71206	5.619925	0.999999999999361	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.67	3.67	0.41236	3.046000	0.49536	4.734000	0.44570	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	10.504	0.44008	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1046.33	35	chr9	137112113	.	T	C	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=786;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.67;SOR=0.788	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1060,0,1189	18	0	1	0
chr9	137169709	137169709	C	A	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G235T:p.D79Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	0.0056	0.00219649	0.0025	0.0059	0.0109	0	0	0.0035	0.0109	0.0018	0.0021604	334	154602	rs200394432	0.0089	0.0084	0.0092	0.0086	0.0101	0.0088	0.0087	0.0100	0.0099	0.0010	0.0041	0.0026	0	0.0111	0.0004	0.0101	0.0085	0.0011	0.0069	0.0069	0.0071	0.0067	0.0104	0.0065	0.0064	0.0098	0.0095	0.0018	0.0011	0.0056	0.0012	0	0.0145	0	0.0104	0.0085	0.0006	0.092	0.31682	T	0.08	0.41913	T	0.995	0.67487	D	0.879	0.62418	P	0.017411	0.27731	N	0.251573	1	0.08975	N	0.38	0.12130	N	0.32	0.58468	T	-2.92	0.61129	D	0.447	0.48504	-0.9694	0.37324	T	0.149	0.47487	T	10	0.007945657	0.00180	T	.	.	.	0.150	0.39571	.	.	0.453307948783	0.44952	0.589860186267563	0.58916	1.6732094712	0.89882	0.924031734467	0.98615	D	0.060064	0.31284	T	-0.396956	0.02424	T	-0.332589	0.41181	T	0.0415163143787757	0.03965	T	0.514149	0.16548	T	0.1394966	0.32221	0.23409446	0.48616	0.1394966	0.32220	0.23409446	0.48615	-10.112	0.74580	D	.	.	0.694	0.72696	P	.	.	4.097554	0.61070	24.3	0.98227979850434222	0.39360	0.05632	0.11542	N	ALL	0.220041	0.34484	N	-0.176251100108009	0.34126	1.944075	-0.354296257165131	0.26376	1.456507	0.999999999996258	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.56	1.62	0.22817	0.249000	0.17989	2.497000	0.33011	0.499000	0.22661	0.000000	0.06391	0.999000	0.35428	0.519000	0.29452	0.0:0.5304:0.2161:0.2535	3.505	0.07247	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002796	0.000000	0.002985	0.003125	0.000000	0.000000	0.003472	0.008696	0.02632	1017.33	35	chr9	137169709	.	C	A	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=750;ExcessHet=0;FS=4.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.964;SOR=1.009	GT:AD:DP:GQ:PL	0/1:26,39:65:99:1031,0,575	18	0	1	0
chr9	137214689	137214689	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon6:c.C740T:p.P247L,NDOR1:NM_001144026:exon7:c.C842T:p.P281L,NDOR1:NM_001144028:exon7:c.C842T:p.P281L,NDOR1:NM_014434:exon7:c.C842T:p.P281L	.	398	1113	11	0	0	11	0.0049173	0.6000	0.576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0018	0.0213658	0.0076	0.0039	0.0006	0.0693	0.0003	0.0011	0.0058	0.0109	0.0072185	1116	154602	rs117332028	0.0038	0.0037	0.0036	0.0039	0.0658	0.0037	0.0036	0.0637	0.0628	0.0029	0.0007	7.665e-05	0.0658	0.0012	0.0019	0.0013	0.0056	0.0106	0.0051	0.0052	0.0045	0.0058	0.0738	0.0048	0.0047	0.0677	0.0653	0.0038	0	0.0014	0	0.0738	0.0007	0	0.0020	0.0024	0.0147	0.018	0.50676	D	0.071	0.43531	T	0.766	0.43754	P	0.593	0.50536	P	0.001248	0.39669	N	0.253336	0.999998	0.81001	D	1.965	0.53209	M	-0.17	0.65563	T	-6.11	0.90023	D	0.629	0.64308	-0.9785	0.35345	T	0.037	0.16160	T	10	0.0043242574	0.00087	T	.	.	.	0.241	0.54641	.	.	0.803063965305	0.80122	0.3884563835396147	0.38760	0.518287771007	0.49694	0.438803374767	0.30413	T	0.108675	0.42191	T	-0.420917	0.01687	T	-0.323133	0.42231	T	0.0394972948705921	0.03599	T	0.779622	0.41374	T	0.27210173	0.50280	0.24086615	0.49471	0.27210173	0.50280	0.24086615	0.49469	-5.006	0.37812	T	.	.	0.091	0.16929	B	.;.;.;.	.;.;.;.	3.956057	0.57992	23.9	0.99359996268202244	0.60946	0.87204	0.46673	D	AEFGBI	0.277153	0.39173	N	0.0192114807870348	0.42730	2.580047	0.0324596172700133	0.41231	2.473702	0.999998751719455	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.75	3.83	0.43287	2.363000	0.43831	2.055000	0.30365	0.520000	0.23804	0.996000	0.39380	0.915000	0.28207	0.070000	0.16646	0.0:0.9088:0.0:0.0912	11.419	0.49214	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|FAD-binding domain, ferredoxin reductase-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	0.005539	0.005051	0.004076	0.002924	0.000000	0.000000	0.009146	0.015152	0.02632	1110.33	45	chr9	137214689	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.546;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.021;SOR=0.734	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1124,0,1285	18	0	1	0
chr9	137245828	137245828	G	A	exonic	FAM166A	.	nonsynonymous SNV	FAM166A:NM_001001710:exon2:c.C82T:p.R28C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.162453766162	7.7e-05	.	6.688e-05	0	0.0002	0	0	8.25e-05	0	0	4.53e-05	7	154602	rs140947216	2.139e-05	2.121e-05	2.452e-05	1.811e-05	0.0002	1.501e-05	1.297e-05	4.577e-05	2.739e-05	6.633e-05	0.0001	0	2.588e-05	0	0.0002	1.982e-05	0	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.007230	0.31521	N	0.257079	0.999787	0.49076	D	2.645	0.77386	M	0.83	0.47815	T	-5.43	0.85323	D	0.565	0.58883	-0.5564	0.66541	T	0.260	0.63033	T	10	0.65099996	0.69602	D	0.162454	0.84203	D	0.423	0.73152	.	.	0.552698843619	0.54927	0.646977369480683	0.64632	0.00752723051188	0.00664	0.619197130203	0.55615	T	0.248576	0.61839	T	0.00868691	0.52846	T	0.0230107	0.71826	D	0.851098775863647	0.50261	D	0.875412	0.59878	D	0.48449683	0.66172	0.5512977	0.74055	0.48449683	0.66173	0.5512977	0.74055	-5.187	0.38809	T	.	.	0.213	0.51227	B	.;.	.;.	5.259506	0.88314	29.5	0.99931906535048742	0.99439	0.56380	0.30102	D	AEFDGBCI	0.471200	0.51684	N	0.541351237992685	0.69555	5.373897	0.482627916781486	0.66839	5.004621	0.999999218054965	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.1	4.14	0.47821	1.977000	0.40211	9.649000	0.81166	0.672000	0.70159	0.992000	0.37556	1.000000	0.68203	0.779000	0.36868	0.0:0.0:0.7524:0.2476	12.157	0.53388	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	936.33	35	chr9	137245828	.	G	A	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.381;DP=779;ExcessHet=0;FS=1.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-1.173;SOR=0.515	GT:AD:DP:GQ:PL	0/1:24,35:59:99:950,0,660	18	0	1	0
chr9	137614757	137614757	G	A	exonic	ARRDC1	.	nonsynonymous SNV	ARRDC1:NM_001317968:exon7:c.G994A:p.V332I,ARRDC1:NM_152285:exon7:c.G994A:p.V332I	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00584148309391	0.0017	0.000199681	0.0030	0.0002	0.0004	0	0.0044	0.0049	0	0.0002	0.0026972	417	154602	rs151308611	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0003	0.0008	0.0029	0	0.0039	0.0017	0.0029	0.0022	0.0002	0.0017	0.0017	0.0019	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0004	0	0.0001	0.0023	0	0.0035	0	0.0028	0.0024	0.0004	0.371	0.11514	T	0.585	0.08361	T	0.032	0.20242	B	0.003	0.08700	B	0.184703	0.03207	N	1.610930	1	0.08975	N	2.015	0.55033	M	2.68	0.12371	T	-0.37	0.13226	N	0.098	0.07949	-0.9691	0.37386	T	0.032	0.13898	T	10	0.0038244426	0.00072	T	0.005841	0.15191	T	0.084	0.24469	.	.	0.166414681773	0.16258	0.17705785318992104	0.17624	0.104261444909	0.11793	0.411825895309	0.26708	T	0.00463	0.04039	T	-0.647301	0.00075	T	-0.7031	0.05659	T	0.0104148889853448	0.00143	T	0.644036	0.25562	T	0.027199766	0.01878	0.041267592	0.04651	0.027199766	0.01878	0.041267592	0.04650	-4.591	0.32058	T	.	.	0.076	0.05800	B	.	.	1.275312	0.16744	12.74	0.80400701352010906	0.13185	0.78000	0.38420	D	ALL	0.203892	0.33037	N	-0.563206707845845	0.20071	1.055403	-0.531152498432745	0.21310	1.152146	0.999999977421507	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.636168	0.56350	0	.	.	5.04	3.2	0.35826	4.007000	0.56808	1.127000	0.24293	0.675000	0.71128	0.998000	0.41325	0.011000	0.20116	0.127000	0.19450	0.1556:0.0:0.8444:0.0	10.831	0.45861	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1794.33	35	chr9	137614757	.	G	A	1794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=893;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.036;SOR=0.625	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1808,0,1647	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	0/1:105,31:136:99:99,0,1913	2	0	17	0
chr10	13971769	13971769	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318337:exon1:c.C31A:p.P11T	.	422	1048	50	2	0	54	0.0251163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	0.00998403	0.0085	0.0215	0.0069	0	0	0.0126	0	0.0067	0.0019922	308	154602	rs115396302	0.0043	0.0034	0.0042	0.0044	0.0347	0.0042	0.0042	0.0302	0.0285	0.0240	0.0046	0.0201	0.0002	0.0004	0.0347	0.0033	0.0076	0.0055	0.0097	0.0097	0.0098	0.0095	0.0213	0.0093	0.0091	0.0201	0.0197	0.0213	0.0428	0.0075	0.0173	0.0002	0.0004	0.0238	0.0046	0.0080	0.0065	0.722	0.03903	T	0.404	0.14818	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999954	0.19072	N	.	.	.	-1.68	0.82897	D	0.33	0.03889	N	.	.	-0.7291	0.59009	T	0.279	0.65089	T	8	0.002155006	0.00031	T	.	.	.	0.136	0.36778	.	.	0.21174354426	0.20776	.	.	.	.	.	.	.	.	.	.	-0.503725	0.00545	T	-0.477419	0.24722	T	0.00162334610149057	0.00016	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.	.	0.790707	0.11611	8.200	0.46892109152217065	0.03791	0.24268	0.22340	N	AEFBIJ	0.162317	0.28847	N	-0.770556285557363	0.14081	0.6986147	-0.814105881477307	0.14155	0.7381071	0.999721840232055	0.42220	0.45559	0.09716	2	0.37387	0.05907	3	0.491513	0.07944	0	0.631631	0.49550	0	.	.	4.89	1.84	0.24348	0.983000	0.29150	-0.096000	0.11999	0.672000	0.70159	0.255000	0.24900	0.000000	0.08366	0.043000	0.14563	0.2286:0.337:0.4344:0.0	5.740	0.17355	981	0.03995	.	.	.	.	.	.	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	1234.33	35	chr10	13971769	.	G	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=711;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.453;SOR=0.57	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1248,0,1105	18	0	1	0
chr10	16505132	16505132	A	G	exonic	PTER	.	nonsynonymous SNV	PTER:NM_001261838:exon3:c.A364G:p.M122V,PTER:NM_001261836:exon4:c.A811G:p.M271V,PTER:NM_001001484:exon5:c.A811G:p.M271V,PTER:NM_030664:exon5:c.A811G:p.M271V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0278809570233	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758683802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.804	0.45171	P	0.771	0.56890	P	0.000000	0.84330	D	0.034029	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-3.58	0.69118	D	0.811	0.80669	-0.6839	0.61192	T	0.239	0.60714	T	10	0.69736975	0.72228	D	0.027881	0.50634	D	0.436	0.74093	0.618	0.75232	0.609838869565	0.60670	0.7568209792786418	0.75630	0.207438064906	0.23204	0.493065804243	0.37864	T	0.232839	0.59950	T	0.158179	0.70032	D	0.0862901	0.75998	D	0.948777854442596	0.62968	D	0.838916	0.51225	T	0.7302226	0.79736	0.69489634	0.82038	0.7302226	0.79737	0.69489634	0.82039	-8.214	0.62519	D	.	.	0.299	0.53717	B	.;.;.	.;.;.	4.364073	0.67135	25.1	0.99482793953670812	0.66959	0.98490	0.83329	D	AEFDGBI	0.899450	0.84386	D	0.622159199645613	0.74578	6.156528	0.609841589756034	0.75652	6.348835	0.999999997894346	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.635000	0.90770	10.997000	0.84734	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	15.260	0.73310	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.33	48	chr10	16505132	.	A	G	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=798;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-0.451;SOR=1.25	GT:AD:DP:GQ:PL	0/1:35,18:53:99:381,0,851	18	0	1	0
chr10	23006950	23006950	G	C	exonic	ARMC3	.	nonsynonymous SNV	ARMC3:NM_001282747:exon11:c.G1009C:p.A337P,ARMC3:NM_001282745:exon14:c.G1798C:p.A600P,ARMC3:NM_001282746:exon14:c.G1798C:p.A600P,ARMC3:NM_173081:exon14:c.G1798C:p.A600P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00827998931009	.	.	8.358e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs754176570	2.054e-06	2.052e-06	0	4.129e-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	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.525	0.09264	T	0.432	0.20486	T	0.982	0.60036	D	0.836	0.59919	P	0.067207	0.02208	N	2.132630	0.911505	0.37038	D	1.375	0.34280	L	1.16	0.38073	T	1.83	0.00912	N	0.192	0.28146	-0.9450	0.41814	T	0.126	0.43215	T	10	0.13846835	0.26333	T	0.00828	0.21928	T	0.119	0.33137	0.663	0.80098	0.443285836454	0.43952	0.7081558648646185	0.70757	0.151425242927	0.17090	0.364188611507	0.19994	T	0.00118	0.06625	T	-0.18108	0.23575	T	-0.497886	0.22567	T	0.0846753544997707	0.10574	T	0.734027	0.40374	T	0.11106932	0.26250	0.16584322	0.38345	0.11106932	0.26249	0.16584322	0.38344	2.043	0.02681	T	.	.	0.201	0.48093	B	.;.;.;.	.;.;.;.	2.077585	0.26423	17.11	0.95133755111059182	0.26247	0.64585	0.32455	D	AEFDI	0.259124	0.37753	N	-0.330177039058854	0.28006	1.54125	-0.311777787764476	0.27718	1.540034	3.59687360539776E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.66	2.75	0.31439	1.237000	0.32298	3.221000	0.36854	0.676000	0.76740	0.751000	0.29144	0.999000	0.35428	0.989000	0.64315	0.1489:0.1375:0.7137:0.0	7.361	0.25919	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	970.33	33	chr10	23006950	.	G	C	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=683;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.399;SOR=0.919	GT:AD:DP:GQ:PL	0/1:35,40:75:99:984,0,810	18	0	1	0
chr10	24984815	24984815	T	C	exonic	ENKUR	.	nonsynonymous SNV	ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G	.	430	1091	1	0	0	1	0.000458085	.	.	.	2813049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00300766377726	0.0047	0.000998403	0.0045	0.0015	0.0024	0	0.0082	0.0066	0.0044	0.0002	0.0043466	672	154602	rs33980615	0.0056	0.0056	0.0056	0.0056	0.0063	0.0055	0.0055	0.0062	0.0062	0.0009	0.0038	0.0077	0	0.0080	0.0010	0.0063	0.0049	0.0002	0.0050	0.0050	0.0050	0.0050	0.0066	0.0047	0.0046	0.0061	0.0059	0.0016	0.0571	0.0054	0.0081	0	0.0066	0.0034	0.0066	0.0052	0.0004	0.028	0.46129	D	0.051	0.50809	T	0.772	0.43974	P	0.243	0.45338	B	0.024490	0.26253	N	0.453783	0.852969	0.28469	N	1.15	0.29295	L	.	.	.	-4.28	0.76334	D	0.271	0.30687	-0.9987	0.30283	T	0.076	0.30492	T	9	0.007371098	0.00167	T	0.003008	0.06457	T	0.063	0.18251	.	.	0.167679373172	0.16340	0.5162962841369829	0.51552	0.0930623830389	0.10513	0.360368400812	0.19439	T	0.075543	0.39389	T	-0.480793	0.00731	T	-0.460513	0.26542	T	0.054717674851808	0.06311	T	0.830717	0.49671	T	0.27724168	0.50783	0.28843197	0.54859	0.27724168	0.50783	0.28843197	0.54858	-8.943	0.67329	D	.	.	0.185	0.42022	B	.;.;.	.;.;.	3.715587	0.53073	23.3	0.99604770556135558	0.74456	0.80506	0.40126	D	AEFBI	0.440438	0.49900	N	0.110078104043824	0.46933	2.926148	0.171421204741629	0.48289	3.046753	0.00436624500466336	0.10516	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	1.322000	0.33295	7.875000	0.72177	0.665000	0.62972	0.799000	0.29708	1.000000	0.68203	0.881000	0.42162	0.0:0.0:0.1473:0.8527	11.740	0.51055	529	0.73716	Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain;Enkurin domain|Enkurin 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	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	831.33	37	chr10	24984815	.	T	C	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.364;DP=701;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.049;SOR=0.92	GT:AD:DP:GQ:PL	0/1:42,37:79:99:845,0,1010	18	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	68.83	34	chr10	27204498	.	T	C	68.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.008;DP=834;ExcessHet=0.119;FS=170.167;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.22;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:39:0|1:27204498_T_C:39,0,1918:27204498	17	0	2	0
chr10	32491945	32491945	C	T	exonic	CCDC7	.	stopgain	CCDC7:NM_001026383:exon10:c.C820T:p.R274X,CCDC7:NM_001321115:exon10:c.C820T:p.R274X,CCDC7:NM_145023:exon10:c.C820T:p.R274X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0005	0	0.0045	0.0001	0	3.005e-05	0	0	0.0003622	56	154602	rs374291544	9.501e-05	0.0001	0.0001	8.643e-05	0.0027	8.187e-05	7.645e-05	0.0023	0.0021	3.204e-05	0.0027	0	2.663e-05	0	0	2.557e-05	0	1.295e-05	7.892e-05	7.877e-05	5.147e-05	0.0001	0.0006	4.501e-05	3.515e-05	0.0003	0.0002	2.409e-05	0	0.0006	0	0.0002	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.291	0.32921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0206635	0.54471	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	6.383760	0.95121	34	0.9916031048121744	0.54071	0.02176	0.06375	N	AEFI	0.045197	0.07365	N	-0.00290936198806002	0.41724	2.500848	-0.350621957098201	0.26489	1.46349	1.91015842062165E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.13	2.19	0.26890	0.563000	0.23250	0.961000	0.22991	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.3393:0.6607:0.0:0.0	9.493	0.38134	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	.	.	.	.	.	.	.	.	0.02632	663.33	34	chr10	32491945	.	C	T	663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.993;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,34:110:99:677,0,1707	18	0	1	0
chr10	33213442	33213442	T	C	exonic	NRP1	.	nonsynonymous SNV	NRP1:NM_001024628:exon9:c.A1558G:p.S520G,NRP1:NM_001024629:exon9:c.A1558G:p.S520G,NRP1:NM_001244972:exon9:c.A1558G:p.S520G,NRP1:NM_001244973:exon9:c.A1558G:p.S520G,NRP1:NM_001330068:exon9:c.A1558G:p.S520G,NRP1:NM_003873:exon9:c.A1558G:p.S520G	.	.	.	.	.	.	.	.	.	.	.	3509518	NRP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.940	0.429340993472	.	0.000998403	0.0004	0	0	0	0	0	0	0.0030	0.0003558	55	154602	rs543390398	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0034	7.884e-05	7.874e-05	5.143e-05	0.0001	0.0025	4.496e-05	3.512e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.013	0.53900	D	0.03	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.21	0.89262	M	-6.03	0.99497	D	-3.49	0.69835	D	0.948	0.97317	1.059	0.98314	D	0.983	0.99479	D	10	0.1442214	0.27372	T	0.429341	0.93950	D	0.940	0.98708	0.815	0.92992	0.889321258414	0.88823	0.8499869299111908	0.84960	0.845700684657	0.68286	0.487870275974	0.37144	T	0.730436	0.92620	D	0.10707	0.65047	D	0.377658	0.91348	D	0.291278268198949	0.24643	T	0.961904	0.94749	D	0.71570116	0.78923	0.4374436	0.67163	0.71570116	0.78924	0.4374436	0.67164	-9.116	0.68440	D	.	.	0.637	0.76081	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.941368	0.81548	27.6	0.99885034796045535	0.96049	0.98801	0.87029	D	AEFDGBI	0.953638	0.97010	D	0.890032966738112	0.91263	10.79574	0.864754322147354	0.93848	12.32286	0.999999999999916	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.95	5.95	0.96415	8.014000	0.88267	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.402	0.83485	598	0.68232	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.;.;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2700.33	45	chr10	33213442	.	T	C	2700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.116;DP=893;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.486;SOR=0.594	GT:AD:DP:GQ:PL	0/1:84,112:196:99:2714,0,2108	18	0	1	0
chr10	43105111	43105111	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon1:c.T23C:p.V8A,RET:NM_020630:exon4:c.T785C:p.V262A,RET:NM_020975:exon4:c.T785C:p.V262A	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	50284	not_provided|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Aganglionic_megacolon|Renal_hypodysplasia/aplasia_1|not_specified|Pheochromocytoma|Multiple_endocrine_neoplasia,_type_2|RET-related_disorder|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|.|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.748	0.269317144677	0.0002	0.000199681	0.0002	0	9.093e-05	0	0.0002	0.0003	0.0012	0.0003	0.000194	30	154602	rs139790943	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0046	0.0041	0.0001	8.951e-05	7.664e-05	0	3.833e-05	0.0063	0.0002	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	4.816e-05	0.0011	0.0005	0	0	9.413e-05	0.0068	0.0004	0.0005	0.0002	0.002	0.72154	D	0.011	0.64786	D	0.676	0.41315	P	0.568	0.49807	P	0.000678	0.42516	D	0.238698	0.998373	0.44834	D	2.325	0.66631	M	-2.29	0.88298	D	-2.44	0.53420	N	0.4	0.94550	0.269	0.87058	D	0.645	0.87618	D	10	0.23900184	0.41032	T	0.269317	0.89817	D	0.748	0.91328	.	.	0.986075961623	0.98591	0.9449520661963712	0.94477	1.39902537186	0.85153	0.654298603535	0.60596	T	0.747582	0.93057	D	0.147568	0.69041	D	0.296161	0.88021	D	0.110290273663753	0.13453	T	0.812119	0.57175	T	0.6398909	0.74825	0.46798772	0.69138	0.7156541	0.78921	0.51304674	0.71862	-11.708	0.84142	D	0.67289961215672	0.74816	0.700	0.80500	P	.;.;.	.;.;.	5.265842	0.88415	29.6	0.99080146142778192	0.51954	0.85374	0.44500	D	AEFDGBCIJ	0.704574	0.66024	D	0.206366859142037	0.51507	3.331407	0.220349645155146	0.50977	3.284379	0.999999999985687	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.79	3.64	0.40864	5.516000	0.66771	7.817000	0.69620	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1429:0.0:0.0:0.8571	10.713	0.45194	862	0.33134	.;.;.	.	.	.	.	.	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	0.004550	0.000000	0.006812	0.005848	0.000000	0.008772	0.003067	0.007576	0.02632	2066.33	37	chr10	43105111	.	T	C	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.328;DP=870;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.23;SOR=0.636	GT:AD:DP:GQ:PL	0/1:112,93:205:99:2080,0,2783	18	0	1	0
chr10	46550328	46550328	G	A	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C409T:p.R137W,GPRIN2:NM_001385276:exon3:c.C409T:p.R137W,GPRIN2:NM_001385282:exon3:c.C409T:p.R137W,GPRIN2:NM_014696:exon3:c.C409T:p.R137W,GPRIN2:NM_001385277:exon4:c.C409T:p.R137W,GPRIN2:NM_001385278:exon4:c.C409T:p.R137W,GPRIN2:NM_001385279:exon4:c.C409T:p.R137W,GPRIN2:NM_001385280:exon4:c.C409T:p.R137W,GPRIN2:NM_001385281:exon4:c.C409T:p.R137W,GPRIN2:NM_001385283:exon4:c.C409T:p.R137W,GPRIN2:NM_001385287:exon4:c.C481T:p.R161W,GPRIN2:NM_001385289:exon4:c.C481T:p.R161W,GPRIN2:NM_001385300:exon4:c.C481T:p.R161W,GPRIN2:NM_001385291:exon5:c.C481T:p.R161W,GPRIN2:NM_001385293:exon5:c.C481T:p.R161W,GPRIN2:NM_001385294:exon5:c.C481T:p.R161W,GPRIN2:NM_001385295:exon5:c.C481T:p.R161W,GPRIN2:NM_001385296:exon5:c.C481T:p.R161W,GPRIN2:NM_001385301:exon5:c.C481T:p.R161W,GPRIN2:NM_001385297:exon6:c.C481T:p.R161W,GPRIN2:NM_001385298:exon6:c.C481T:p.R161W,GPRIN2:NM_001385299:exon6:c.C481T:p.R161W	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140859626	0.0019	0.0025	0.0018	0.0020	0.0086	0.0018	0.0018	0.0066	0.0060	0.0003	0.0014	0.0100	0	3.814e-05	0.0086	0.0017	0.0028	0.0033	0.0014	0.0020	0.0016	0.0013	0.0025	0.0013	0.0012	0.0016	0.0015	0.0003	0.0034	0.0013	0.0104	0	0	0.0103	0.0019	0.0028	0.0025	0.073	0.34800	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8	0.03781	T	-2.59	0.55821	D	0.166	0.17553	.	.	.	.	.	.	.	0.016067445	0.00338	T	.	.	.	.	.	.	.	.	.	0.18825813848168782	0.18743	.	.	.	.	.	0.028429	0.20594	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-4.077	0.24950	T	.	.	0.093	0.14015	B	.;.	.;.	2.289579	0.29282	18.07	.	.	.	.	.	.	0.085239	0.17279	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	3.199000	0.36741	0.676000	0.76740	0.000000	0.06391	0.883000	0.27730	0.895000	0.43227	.	.	.	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	487.33	138	chr10	46550328	.	G	A	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=2306;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.32;ReadPosRankSum=-0.808;SOR=0.578	GT:AD:DP:GQ:PL	0/1:120,27:147:99:501,0,3294	18	0	1	0
chr10	47503387	47503387	T	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A742G:p.M248V	.	434	1065	23	0	0	23	0.0106828	.	.	.	2813128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0021	0	0	0	0.0020	0	0	0.0002689	7	26028	rs199638710	0.0001	0.0009	8.468e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	6.036e-05	6.717e-05	0.0009	0	0	0.0007	7.123e-05	0.0002	0.0007	9.451e-05	0.0002	5.273e-05	0.0001	0.0009	5.673e-05	4.479e-05	0.0003	0.0002	0.0001	0	0	0.0006	0	0	0	4.436e-05	0	0.0009	0.132	0.26519	T	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-1.24	0.31375	N	0.086	0.06322	.	.	.	.	.	.	.	0.00929603	0.00210	T	.	.	.	.	.	.	.	0.354610295913	0.35065	0.02193780874142853	0.02145	.	.	.	.	.	.	.	.	-0.299579	0.08699	T	-0.196136	0.55012	T	.	.	.	0.675032	0.28342	T	.	.	.	.	.	.	.	.	-3.695	0.19244	T	.	.	0.068	0.02797	B	.	.	1.062155	0.14442	11.01	0.6049860810602804	0.06478	0.49735	0.28501	N	AEFI	.	.	.	.	.	.	.	.	.	6.47738046360823E-5	0.04366	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.588178	0.40606	0.109	0.109	0.13884	1.905000	0.39508	0.541000	0.19334	-1.309000	0.01237	1.000000	0.71638	0.136000	0.23046	0.085000	0.17524	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	1206.83	33	chr10	47503387	.	T	C	1206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.265;DP=1319;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.25;MQRankSum=-1.916;QD=2.41;ReadPosRankSum=2.4;SOR=0.668	GT:AD:DP:GQ:PL	0/1:199,42:241:99:315,0,4945	17	0	2	0
chr10	49325244	49325244	G	A	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.G2699A:p.G900D	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0124814415956	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	3.23e-05	5	154602	rs767292538	9.789e-05	9.371e-05	8.318e-05	0.0001	0.0067	8.452e-05	7.922e-05	0.0050	0.0044	0	0.0001	7.942e-05	2.798e-05	0	0.0067	5.561e-05	0.0002	0.0002	5.909e-05	5.905e-05	6.424e-05	5.37e-05	0.0001	3.075e-05	2.208e-05	4.765e-05	3.339e-05	2.406e-05	0	6.533e-05	0	0	0	0	0.0001	0	0	0.005	0.63226	D	0.012	0.63918	D	.	.	.	.	.	.	0.335621	0.14044	U	0.528419	1	0.08975	N	.	.	.	3.31	0.06291	T	-1.89	0.44094	N	0.159	0.16586	-1.0525	0.13709	T	0.026	0.11353	T	8	0.08427501	0.14108	T	0.012481	0.31090	T	0.195	0.47612	0.108	0.01928	0.312001716656	0.30816	0.24299212024162217	0.24213	0.325923819181	0.34745	.	.	.	.	.	.	-0.347405	0.04892	T	-0.477121	0.24754	T	0.0447675079148597	0.04559	T	0.475152	0.14192	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26388	B	.	.	1.946082	0.24719	16.50	0.99601909700346258	0.74278	0.06251	0.12241	N	AEFDBI	0.064205	0.12455	N	-0.257681003765208	0.30797	1.720652	-0.322029889920354	0.27387	1.519399	0.973950714007223	0.29500	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	4.37	0.51830	0.397000	0.20608	0.290000	0.16862	-0.186000	0.09761	0.001000	0.13787	0.000000	0.08366	0.349000	0.25636	0.0:0.4026:0.4633:0.1341	9.835	0.40133	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001190	0.005263	0.006024	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1714.33	151	chr10	49325244	.	G	A	1714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.792;DP=2509;ExcessHet=0;FS=4.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.44;SOR=1.083	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1728,0,2270	18	0	1	0
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P,PRKG1:NM_006258:exon10:c.G1090C:p.A364P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.4	34	chr10	52251583	.	G	C	33.4	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.296;DP=1512;ExcessHet=0.3672;FS=220.707;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.09;ReadPosRankSum=1.6;SOR=10.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,27:99:3:.:.:3,0,1414:.	15	0	3	1
chr10	60073656	60073656	A	G	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.T7225C:p.S2409P	.	426	1070	24	2	0	28	0.0129151	.	.	.	133824	not_provided|not_specified|ANK3-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0049	0.00299521	0.0047	0.0013	0.0069	0.0001	0.0014	0.0065	0.0044	0.0018	0.0047024	727	154602	rs148904927	0.0057	0.0057	0.0057	0.0057	0.0101	0.0056	0.0056	0.0080	0.0072	0.0011	0.0076	0.0083	0	0.0012	0.0101	0.0063	0.0062	0.0024	0.0047	0.0047	0.0045	0.0048	0.0095	0.0044	0.0043	0.0082	0.0078	0.0011	0	0.0095	0.0069	0	0.0007	0.0238	0.0066	0.0090	0.0035	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.897	0.63631	P	0.000811	0.41658	D	0.000000	0.998664	0.81001	D	1.905	0.50856	L	-0.33	0.68329	T	-0.68	0.19509	N	0.554	0.57946	-0.4520	0.70335	T	0.251	0.62073	T	10	0.0094747245	0.00214	T	.	.	.	0.256	0.56694	.	.	0.617921971332	0.61483	0.19966895534832965	0.19883	0.639625809269	0.57622	0.689143061638	0.65583	T	0.267824	0.63989	T	-0.276491	0.11042	T	-0.160541	0.58304	T	0.016783986988244	0.00433	T	0.966503	0.87759	D	0.37089172	0.58651	0.41602647	0.65699	0.37089172	0.58651	0.41602647	0.65699	-5.163	0.38563	T	0.400965696034632	0.49277	0.717	0.73654	P	.	.	3.897056	0.56739	23.8	0.99838799887576313	0.91972	0.97498	0.75138	D	ALL	0.949432	0.96206	D	0.663769216260963	0.77264	6.641154	0.685545357946168	0.81281	7.490124	1.0	0.98316	0.487112	0.14033	0	0.172119	0.04017	3	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.186000	0.77262	11.220000	0.89740	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.149	0.81415	726	0.54788	.	.	.	.	.	.	Likely benign	0	0	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	0.011581	0.010101	0.010870	0.005848	0.000000	0.025862	0.021341	0.007576	0.02632	1811.33	106	chr10	60073656	.	A	G	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=1034;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.503;SOR=0.629	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1825,0,1604	18	0	1	0
chr10	60074326	60074326	C	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.G6555T:p.Q2185H	.	425	1096	1	0	0	1	0.000455996	.	.	.	207761	Intellectual_disability|Intellectual_disability-hypotonia-spasticity-sleep_disorder_syndrome|not_provided|not_specified	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|MONDO:MONDO:0014210,MedGen:C3809672,OMIM:615493,Orphanet:356996|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.0306091220579	0.0005	0.000199681	0.0003	9.61e-05	0.0003	0	0.0003	0.0005	0	6.06e-05	0.0003622	56	154602	rs144465058	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	8.964e-05	0.0002	7.656e-05	0	0.0002	0	0.0005	0.0003	0.0002	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	7.218e-05	0	0.0003	0	0	9.42e-05	0	0.0007	0	0	0.01	0.56456	D	.	.	.	0.162	0.28404	B	0.145	0.33871	B	0.815049	0.09222	N	0.885835	1	0.18612	N	0.345	0.11182	N	-0.06	0.63568	T	-0.92	0.24676	N	0.118	0.10769	-0.9239	0.45013	T	0.157	0.48891	T	10	0.021631032	0.00522	T	0.030609	0.52882	D	0.030	0.07022	0.12	0.02719	0.363734036182	0.35979	0.27715629405267855	0.27628	0.148687959432	0.16773	0.288295358419	0.08675	T	0.269496	0.64170	T	-0.493591	0.00621	T	-0.538134	0.18480	T	0.0157628062706608	0.00366	T	0.810819	0.46223	T	0.086469226	0.20098	0.058285754	0.10744	0.086469226	0.20098	0.058285754	0.10744	-4.56	0.31665	T	0.16249570172808786	0.19964	0.133	0.28693	B	.	.	1.165824	0.15551	11.93	0.94652480583759158	0.25259	0.65343	0.32705	D	AEFDGBHCI	0.233247	0.35620	N	-0.582234115086139	0.19485	1.020128	-0.489867590448343	0.22431	1.218342	0.999999999999254	0.74766	0.487112	0.14033	0	0.587068	0.34093	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	2.04	0.25787	0.160000	0.16278	-2.390000	0.03814	-0.182000	0.10109	0.276000	0.25103	0.000000	0.08366	0.931000	0.46843	0.0:0.5468:0.1248:0.3284	5.836	0.17862	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1691.33	106	chr10	60074326	.	C	A	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.18;DP=1054;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.551;SOR=0.623	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1705,0,2108	18	0	1	0
chr10	71617355	71617355	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon11:c.G1096A:p.A366T,CDH23:NM_001171931:exon11:c.G1096A:p.A366T,CDH23:NM_001171932:exon11:c.G1096A:p.A366T,CDH23:NM_022124:exon11:c.G1096A:p.A366T,CDH23:NM_052836:exon11:c.G1096A:p.A366T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1504	18	0	0	18	0.00594845	.	.	.	53282	Retinal_dystrophy|Usher_syndrome_type_1D|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Nonsyndromic_genetic_hearing_loss|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.198	.	0.0081	0.00199681	0.0070	0.0027	0.0044	0.0001	0.0009	0.0110	0.0067	0.0012	0.0067658	1046	154602	rs143282422	0.0095	0.0095	0.0096	0.0094	0.0102	0.0094	0.0093	0.0100	0.0100	0.0017	0.0052	0.0535	0	0.0013	0.0064	0.0102	0.0104	0.0021	0.0065	0.0065	0.0072	0.0058	0.0091	0.0062	0.0061	0.0085	0.0083	0.0020	0.0121	0.0054	0.0452	0.0004	0.0010	0.0034	0.0091	0.0076	0.0019	0.135	0.29288	T	0.012	0.92824	D	1.0	0.90584	D	0.993	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	0.415	0.12483	N	1.01	0.41058	T	-0.98	0.29525	N	0.789	0.81261	-0.8505	0.51933	T	0.176	0.52068	T	10	0.008493215	0.00192	T	.	.	.	0.198	0.48105	.	.	0.758690719046	0.75649	0.40012521450796107	0.39927	.	.	0.814825892448	0.84233	D	0.00253	0.44911	T	-0.38339	0.02966	T	-0.313102	0.43325	T	0.0318177186075019	0.02276	T	0.948305	0.80271	D	0.2967483	0.52611	0.3103192	0.57043	0.24499422	0.47454	0.22478768	0.47400	-11.389	0.84152	D	.	.	0.47	0.70478	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.917092	0.57157	23.8	0.99939848356716388	0.99767	0.99392	0.95437	D	AEFBI	0.953945	0.97066	D	0.54891561270629	0.70015	5.440025	0.610823582196733	0.75723	6.361509	0.999999999999997	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	9.239000	0.94505	11.594000	0.93426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.833	0.92116	945	0.12563	Cadherin-like;.;.;.;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.006793	0.005848	0.050000	0.017241	0.009146	0.003788	0.02632	1670.33	33	chr10	71617355	.	G	A	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=1052;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.187;SOR=0.74	GT:AD:DP:GQ:PL	0/1:82,69:151:99:1684,0,2122	18	0	1	0
chr10	75043830	75043830	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon3:c.G388A:p.A130T,DUSP29:NM_001384909:exon4:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.016393421255	0.0004	.	7.501e-05	0.0006	0	0	0	4.575e-05	0	0	5.82e-05	9	154602	rs146856636	1.232e-05	1.231e-05	1.362e-05	1.1e-05	0.0001	7.7e-06	6.35e-06	5.851e-05	3.759e-05	0.0001	0	0	0	0	0	5.396e-06	9.938e-05	1.159e-05	6.569e-05	6.566e-05	0.0001	2.689e-05	0.0002	3.516e-05	2.616e-05	9.566e-05	6.963e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.04	0.42199	D	0.214	0.26386	T	0.001	0.07471	B	0.002	0.06944	B	0.010813	0.29776	N	0.312805	0.999933	0.19363	N	0.74	0.18910	N	0.14	0.60854	T	0.12	0.05604	N	0.103	0.08646	-1.0106	0.26729	T	0.102	0.37743	T	10	0.0718005	0.10632	T	0.016393	0.37623	T	0.045	0.12272	.	.	0.328486982098	0.32448	0.4104154547582546	0.40957	0.341506169282	0.36087	0.321364343166	0.13629	T	0.125864	0.45185	T	-0.448065	0.01159	T	-0.55139	0.17192	T	0.0357965156435966	0.02945	T	.	.	.	0.17876647	0.38914	0.11181814	0.26974	0.17876647	0.38914	0.11181814	0.26973	-5.002	0.36861	T	.	.	0.076	0.05845	B	.	.	0.828210	0.11999	8.554	0.96558147626656399	0.30251	0.13842	0.18081	N	AEFDBCI	0.100444	0.20196	N	-0.764967518162133	0.14229	0.7071569	-0.74388646448915	0.15872	0.8369558	0.99998473320277	0.51787	0.517182	0.21443	0	0.609123	0.50646	0	0.478664	0.07449	1	0.554799	0.18163	0	.	.	4.93	2.81	0.31971	0.072000	0.14482	0.262000	0.16556	-0.195000	0.09104	0.011000	0.18532	0.008000	0.19753	0.039000	0.14166	0.1332:0.576:0.1297:0.1611	3.430	0.06997	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	850.33	34	chr10	75043830	.	C	T	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=705;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.1;SOR=0.54	GT:AD:DP:GQ:PL	0/1:33,35:68:99:864,0,874	18	0	1	0
chr10	80155872	80155872	A	T	exonic	ANXA11	.	nonsynonymous SNV	ANXA11:NM_001157:exon15:c.T1499A:p.I500N,ANXA11:NM_145868:exon16:c.T1499A:p.I500N,ANXA11:NM_001278407:exon17:c.T1499A:p.I500N,ANXA11:NM_001278408:exon17:c.T1499A:p.I500N,ANXA11:NM_001278409:exon17:c.T1400A:p.I467N,ANXA11:NM_145869:exon17:c.T1499A:p.I500N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0254702749853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	0.999	0.77913	D	0.978	0.74104	D	0.000079	0.52346	D	0.124104	0.991995	0.41527	D	3.095	0.87515	M	3.39	0.05710	T	-5.03	0.82575	D	0.674	0.72299	-1.0207	0.23486	T	0.079	0.31344	T	10	0.9071437	0.90079	D	0.02547	0.48437	D	0.387	0.70358	0.864	0.95995	0.515490261806	0.51192	0.7929434905876219	0.79247	0.474006111625	0.46600	0.801676273346	0.82218	T	0.209667	0.56994	T	0.0665319	0.60425	T	-0.142208	0.59926	T	0.998528480529785	0.94393	D	0.970003	0.89184	D	0.96940136	0.98204	0.9499666	0.98397	0.96940136	0.98204	0.9499666	0.98398	-11.613	0.84241	D	.	.	0.972	0.89791	P	.;.;.;.	.;.;.;.	5.330124	0.89453	30	0.99393160030885153	0.62428	0.97454	0.74853	D	AEFDBCI	0.926930	0.90880	D	0.908304707973952	0.92162	11.26668	0.855303253713105	0.93321	11.96683	0.999999999987036	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.579000	0.90568	11.187000	0.88524	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.888	0.63223	935	0.14827	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1669.33	35	chr10	80155872	.	A	T	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=764;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.506;SOR=0.852	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1683,0,1313	18	0	1	0
chr10	87228565	87228565	C	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.C685A:p.L229I	.	.	.	.	.	.	.	.	.	.	.	3352604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00338545348953	.	0.000399361	0.0003	0	0	0	0	0.0005	0	0	0.0001537	4	26028	rs571729371	0.0002	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0009	0.0001	0.0002	0.0006	0	5.705e-05	0.0007	0.0002	0.0002	0.0011	0.0002	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	4.826e-05	0	0.0003	0.0003	0	0.0002	0	0.0004	0.0005	0.0002	0.104	0.33254	T	0.155	0.31936	T	0.998	0.73220	D	0.984	0.76113	D	0.384561	0.13342	N	0.679458	1	0.08975	N	.	.	.	1.17	0.37910	T	-1.12	0.30346	N	0.243	0.27673	-0.8499	0.51975	T	0.174	0.51722	T	10	0.05296117	0.05411	T	0.003385	0.07572	T	0.061	0.17616	0.465	0.53566	0.082315109003	0.07666	0.03720928003572096	0.03667	.	.	0.586626172066	0.51019	T	0.030055	0.21393	T	-0.405378	0.02134	T	-0.515526	0.20750	T	0.022290300577879	0.00942	T	0.824917	0.48720	T	0.05130267	0.09400	0.05058444	0.07968	0.05130267	0.09400	0.05058444	0.07967	-5.623	0.43002	T	.	.	0.122	0.25429	B	.;.	.;.	1.647449	0.21022	15.02	0.97948284953650955	0.37085	0.00163	0.00971	N	AEFI	0.024206	0.01462	N	-0.673179610827665	0.16788	0.8584198	-0.953942807596944	0.10831	0.5481123	1.45283994113355E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	-1.35	0.08638	0.382000	0.20364	-3.613000	0.02657	0.343000	0.19815	0.016000	0.19238	0.000000	0.08366	0.012000	0.09680	0.0:0.4223:0.5777:0.0	6.832	0.23098	925	0.17918	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	0.003916	0.000000	0.001449	0.009901	0.000000	0.000000	0.008850	0.009091	0.02632	148.36	16	chr10	87228565	.	C	A	148.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=501;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.026;MQ=35.13;MQRankSum=-0.289;QD=6.74;ReadPosRankSum=-0.953;SOR=3.477	GT:AD:DP:GQ:PL	0/1:15,7:22:99:162,0,431	18	0	1	0
chr10	94545928	94545928	G	A	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289067:exon1:c.G7A:p.A3T,HELLS:NM_001289069:exon1:c.G7A:p.A3T,HELLS:NM_001289070:exon1:c.G7A:p.A3T,HELLS:NM_001289072:exon1:c.G7A:p.A3T,HELLS:NM_018063:exon1:c.G7A:p.A3T	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.129628357081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.91255	D	0.018	0.59732	D	0.001	0.35330	B	0.005	0.36167	B	0.000218	0.47681	D	0.144113	0.925437	0.27192	N	0.69	0.16971	N	-2.44	0.88767	D	-0.49	0.38734	N	0.193	0.29774	0.148	0.85018	D	0.699	0.89613	D	10	0.109434724	0.20415	T	0.129628	0.81170	D	0.290	0.60924	0.111	0.02112	0.607808638335	0.60465	0.19953230537335023	0.19870	0.88481610199	0.69934	0.533421993256	0.43517	T	0.023906	0.52623	T	0.0231946	0.54813	T	-0.204459	0.54224	T	0.342367112636566	0.26718	T	0.818618	0.47570	T	0.11502035	0.27148	0.18490084	0.41571	0.11502035	0.27148	0.18490084	0.41570	-5.584	0.42901	T	.	.	0.123	0.25721	B	.;.;.;.	.;.;.;.	3.117359	0.42069	21.5	0.99805920453306463	0.88995	0.33819	0.24920	N	AEFDGBHCI	0.121662	0.23644	N	-0.385977238231176	0.25967	1.413684	-0.315954060883403	0.27583	1.531601	0.999999999978357	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.41	3.51	0.39297	1.949000	0.39938	5.319000	0.48286	0.526000	0.24426	0.229000	0.24633	1.000000	0.68203	0.376000	0.26245	0.1073:0.0:0.8927:0.0	8.511	0.32381	680	0.59965	.;.;.;.	.	.	.	.	.	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	635.33	40	chr10	94545928	.	G	A	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.555;DP=689;ExcessHet=0;FS=2.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.431;SOR=0.537	GT:AD:DP:GQ:PL	0/1:33,27:60:99:649,0,745	18	0	1	0
chr10	94989020	94989020	C	T	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon9:c.C1465T:p.P489S	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	1	1513	8	0	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0042469087398	0.0018	0.000798722	0.0019	0.0006	0.0010	0	0.0015	0.0030	0.0022	0.0002	0.0018176	281	154602	rs9332239	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0003	0.0014	0.0007	0	0.0019	0.0003	0.0025	0.0021	0.0002	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0024	0.0022	0.0003	0	0.0031	0.0009	0	0.0011	0	0.0025	0.0019	0	0.005	0.63226	D	0.0	0.92824	D	0.983	0.60381	D	0.639	0.52057	P	0.000001	0.62929	U	0.000000	0.790877	0.29227	N	2.955	0.85029	M	2.42	0.15376	T	-6.94	0.93440	D	0.151	0.15469	-1.0108	0.26666	T	0.069	0.28113	T	10	0.015488237	0.00325	T	0.004247	0.10278	T	0.110	0.31079	.	.	0.562729887668	0.55935	0.46334726255107916	0.46253	0.029605401285	0.03046	0.413081467152	0.26883	T	0.380306	0.74287	T	-0.464095	0.00926	T	-0.443408	0.28427	T	0.100016626427694	0.12359	T	0.842416	0.51891	T	0.72545624	0.79466	0.30847883	0.56866	0.6799376	0.76967	0.26498133	0.52324	-5.726	0.43924	T	.	.	0.234	0.46722	B	.	.	2.148535	0.27367	17.44	0.97795271418013252	0.36027	0.52914	0.29245	D	AEFDBCI	0.685302	0.64735	D	0.0364038750783106	0.43519	2.643152	-0.141078819534107	0.33754	1.934113	8.42073556349215E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	2.5	0.29355	2.401000	0.44166	1.228000	0.25023	0.589000	0.31548	0.772000	0.29380	0.462000	0.25007	0.004000	0.06068	0.0:0.8817:0.0:0.1183	8.775	0.33915	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	2026.33	34	chr10	94989020	.	C	T	2026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.265;SOR=0.731	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2040,0,2460	18	0	1	0
chr10	96227443	96227443	G	C	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon5:c.C328G:p.P110A,BLNK:NM_001258440:exon5:c.C328G:p.P110A,BLNK:NM_001258441:exon5:c.C328G:p.P110A,BLNK:NM_001258442:exon5:c.C328G:p.P110A,BLNK:NM_013314:exon5:c.C328G:p.P110A	Agammaglobulinemia 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1009340	Agammaglobulinemia_4,_autosomal_recessive	MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00359750629792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	4.788e-06	5.445e-06	4.125e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	3.311e-05	2.319e-05	6.567e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.202	0.20230	T	0.248	0.26631	T	0.023	0.20614	B	0.013	0.20792	B	0.000011	0.62929	D	0.151282	0.838374	0.28665	N	2.17	0.60663	M	.	.	.	-3.67	0.81514	D	0.279	0.37613	-1.0037	0.28844	T	0.091	0.34928	T	9	0.16997904	0.31635	T	0.003598	0.08247	T	0.116	0.32463	.	.	0.570634859252	0.56729	0.28811319008134084	0.28724	0.320807667814	0.34285	0.471275269985	0.34856	T	0.749861	0.93137	D	-0.108157	0.35073	T	-0.393137	0.34185	T	0.769204080104828	0.44392	D	0.881012	0.60027	D	0.14727098	0.33674	0.11446714	0.27632	0.14727098	0.33674	0.11446714	0.27631	-4.905	0.35791	T	0.22067506726341066	0.29751	0.064	0.03479	B	.;.;.;.	.;.;.;.	3.501532	0.48989	22.7	0.98401766327296925	0.41073	0.64426	0.32403	D	AEFBCI	0.162801	0.28902	N	0.0119265762342743	0.42398	2.553747	0.163467045839612	0.47861	3.009982	0.996015504953674	0.34469	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.83	4.89	0.63387	2.683000	0.46609	6.381000	0.55541	0.575000	0.29119	0.998000	0.41325	1.000000	0.68203	0.865000	0.41091	0.0:0.1481:0.6987:0.1532	9.969	0.40914	472	0.77968	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1509.33	33	chr10	96227443	.	G	C	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=864;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.35;SOR=0.903	GT:AD:DP:GQ:PL	0/1:64,62:128:99:1523,0,1543	18	0	1	0
chr10	99387907	99387907	G	A	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_001345888:exon8:c.G2428A:p.G810R,CNNM1:NM_020348:exon8:c.G2428A:p.G810R,CNNM1:NM_001345887:exon9:c.G2491A:p.G831R,CNNM1:NM_001345889:exon9:c.G2491A:p.G831R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0160896155418	.	.	1.669e-05	0	0	0	0	1.514e-05	0	6.32e-05	1.29e-05	2	154602	rs778879185	9.58e-06	1.026e-05	6.808e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	2.52e-05	0	0.0002	8.095e-06	1.657e-05	2.321e-05	6.572e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.124	0.27426	T	0.53	0.10103	T	0.403	0.34918	B	0.038	0.23361	B	0.000754	0.42006	D	0.000000	0.959364	0.38123	D	0.925	0.23481	L	1.45	0.32482	T	-0.92	0.24676	N	0.205	0.22742	-1.0556	0.12882	T	0.040	0.17020	T	10	0.082811385	0.13707	T	0.01609	0.37172	T	0.033	0.08068	0.1	0.01484	0.043077524339	0.03247	0.3091984891632838	0.30832	.	.	0.526243507862	0.42505	T	0.004955	0.04374	T	-0.189903	0.22273	T	-0.510559	0.21257	T	0.330927461385727	0.26262	T	0.792521	0.43410	T	0.16525634	0.36785	0.11191935	0.27001	0.16525634	0.36785	0.11191935	0.27001	-4.765	0.34180	T	.	.	0.091	0.13174	B	.	.	2.765229	0.36281	20.2	0.99444581872748261	0.64971	0.68118	0.33682	D	AEFDBCI	0.233792	0.35666	N	-0.0865354013972079	0.37983	2.217774	0.0435549932242322	0.41760	2.514383	0.999999893475642	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	3.273000	0.51326	7.787000	0.68803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0884:0.0:0.9116:0.0	12.429	0.54897	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1194.33	33	chr10	99387907	.	G	A	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.577;DP=710;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.56;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,48:80:99:1208,0,670	18	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M,ENTPD7:NM_020354:exon3:c.G85A:p.V29M,ENTPD7:NM_001349962:exon4:c.G91A:p.V31M	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.014620	0.000000	0.017241	0.006098	0.007576	0.05263	1878.83	34	chr10	99661522	.	G	A	1878.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.073;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.195;SOR=0.735	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1303,0,1015	17	0	2	0
chr10	100291324	100291324	G	A	exonic	PKD2L1	.	stopgain	PKD2L1:NM_001253837:exon12:c.C1843T:p.R615X,PKD2L1:NM_016112:exon12:c.C1984T:p.R662X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.123e-05	9.61e-05	0	0	0	1.5e-05	0	0.0002	3.23e-05	5	154602	rs745318706	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0001	8.31e-06	6.7e-06	7.999e-05	6.237e-05	0	0	0	0	0	0	5.396e-06	1.656e-05	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.236019	0.15816	N	0.645425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.756	0.75466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402906	0.90080	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.025076	0.98357	39	0.99113778243590289	0.52802	0.88865	0.49003	D	AEFDBI	0.208550	0.33462	N	0.159621807804507	0.49267	3.129124	-0.0867749914154541	0.35936	2.085076	0.999993354342232	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.82	2.91	0.32903	2.002000	0.40454	0.556000	0.19466	-0.106000	0.15538	0.988000	0.36536	0.045000	0.21693	0.078000	0.17132	0.0723:0.0:0.4127:0.515	8.501	0.32317	815	0.41851	.	.	.	.	.	.	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	1333.33	33	chr10	100291324	.	G	A	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=807;ExcessHet=0;FS=5.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.081;SOR=1.134	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1347,0,2020	18	0	1	0
chr10	103278251	103278251	A	G	exonic	INA	.	nonsynonymous SNV	INA:NM_032727:exon1:c.A1040G:p.H347R	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	.	0.0068	0.00559105	0.0118	0.0024	0.0062	0	0	0.0160	0.0092	0.0117	0.0052005	804	154602	rs78099843	0.0097	0.0096	0.0097	0.0097	0.0108	0.0095	0.0095	0.0107	0.0106	0.0014	0.0034	0.0172	5.333e-05	0.0014	0.0071	0.0108	0.0085	0.0085	0.0062	0.0061	0.0069	0.0054	0.0095	0.0058	0.0057	0.0089	0.0087	0.0024	0.0033	0.0036	0.0202	0	0.0009	0.0068	0.0095	0.0076	0.0071	0.043	0.41364	D	0.123	0.35582	T	0.974	0.57829	D	0.91	0.64641	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.315	0.66250	M	-4.29	0.97149	D	-4.04	0.74427	D	0.623	0.63798	0.777	0.94124	D	0.884	0.96152	D	10	0.010659248	0.00236	T	.	.	.	0.863	0.95839	.	.	0.999885372916	0.99988	0.9197221401851097	0.91948	2.05958384172	0.94402	0.755199432373	0.75216	T	0.857607	0.96813	D	0.0653725	0.60282	T	0.332803	0.89624	D	0.0208410290861529	0.00784	T	0.755224	0.37818	T	0.76489484	0.81743	0.67247915	0.80778	0.76489484	0.81744	0.67247915	0.80779	-7.824	0.59865	D	0.6158204980164066	0.68376	0.738	0.74545	P	.	.	4.779570	0.77456	26.7	0.99713738165993315	0.81493	0.41904	0.26760	N	AEFDBCI	0.747244	0.68936	D	0.530508259231354	0.68902	5.281694	0.51287704526531	0.68855	5.278072	0.999999999987222	0.74766	0.789315	0.99827	0	0.541168	0.11318	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	4.54	4.54	0.55220	6.297000	0.72735	10.837000	0.83894	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	14.005	0.63972	167	0.93508	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs78099843	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	0.011190	0.000000	0.017760	0.011696	0.000000	0.017241	0.006250	0.007576	0.02632	786.33	35	chr10	103278251	.	A	G	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=749;ExcessHet=0;FS=2.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.58;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,30:68:99:800,0,926	18	0	1	0
chr10	104179076	104179076	T	C	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon19:c.A2413G:p.K805E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00523661443624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	0.01930	T	1.0	0.02447	T	0.002	0.09854	B	0.001	0.04355	B	0.100399	0.02541	N	1.873030	1	0.08975	N	.	.	.	2.7	0.12268	T	0.96	0.01949	N	0.11	0.10911	-1.0082	0.27479	T	0.020	0.08593	T	10	0.02195248	0.00536	T	0.005237	0.13371	T	0.028	0.06331	0.228	0.15406	0.0986583533028	0.09354	0.06879267936214661	0.06817	0.184458510104	0.20745	0.259733021259	0.04859	T	0.024065	0.18256	T	-0.276161	0.11079	T	-0.634463	0.10078	T	0.0328906141221523	0.02453	T	0.433257	0.13535	T	0.05098065	0.09294	0.048600614	0.07254	0.05098065	0.09294	0.048600614	0.07254	-2.231	0.04194	T	.	.	0.085	0.10352	B	.;.	.;.	1.063239	0.14453	11.02	0.28331842203332841	0.01450	0.10189	0.15764	N	AEFBI	0.064953	0.12642	N	-1.06430734414347	0.07310	0.3391687	-0.960088369631708	0.10690	0.5400049	0.068653966984005	0.15465	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.52	0.752	0.17546	0.233000	0.17689	-0.158000	0.11351	-0.147000	0.12262	0.525000	0.27150	0.000000	0.08366	0.915000	0.45038	0.0:0.2618:0.4959:0.2423	5.739	0.17351	85	0.96447	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1669.33	33	chr10	104179076	.	T	C	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.225;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.13;SOR=0.695	GT:AD:DP:GQ:PL	0/1:87,79:166:99:1683,0,2043	18	0	1	0
chr10	113614942	113614942	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon27:c.G2975A:p.R992H,NRAP:NM_006175:exon27:c.G2978A:p.R993H,NRAP:NM_001261463:exon28:c.G3083A:p.R1028H,NRAP:NM_198060:exon28:c.G3083A:p.R1028H	.	405	1111	6	0	0	6	0.002693	.	.	.	2212354	Inborn_genetic_diseases|NRAP-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.00976952176891	7.7e-05	0.00179712	0.0008	0	0.0005	0.0001	0	0.0003	0.0011	0.0039	0.0006856	106	154602	rs200591335	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0032	0.0030	6.071e-05	0.0003	0.0007	0	0	0.0026	0.0002	0.0005	0.0035	0.0003	0.0003	0.0003	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	4.815e-05	0	0.0003	0.0014	0	0	0	0.0003	0.0009	0.0043	0.456	0.23541	T	0.095	0.39492	T	0.375	0.34209	B	0.076	0.28435	B	0.000345	0.45440	D	0.201393	1	0.81001	D	0.75	0.19020	N	2.52	0.16640	T	-0.34	0.12661	N	0.222	0.24883	-1.0231	0.22704	T	0.026	0.10998	T	10	0.012930155	0.00276	T	0.00977	0.25495	T	0.152	0.39956	.	.	0.384086055536	0.38021	0.34233363619510393	0.34146	0.105942432008	0.11982	0.548920571804	0.45706	T	0.008592	0.07877	T	-0.390313	0.02678	T	-0.334907	0.40919	T	0.0236437510889523	0.01101	T	0.921408	0.71494	D	0.0972468	0.22920	0.0797089	0.17967	0.0972468	0.22920	0.0797089	0.17967	-6.3	0.48722	T	.	.	0.096	0.17615	B	.;.;.;.	.;.;.;.	3.269928	0.44761	22.0	0.96113061550661771	0.28751	0.60914	0.31332	D	AEFGBI	0.378535	0.46189	N	-0.31421189489725	0.28608	1.579322	-0.152513864829307	0.33311	1.904201	0.999994709431649	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	1.405000	0.34243	5.996000	0.52409	0.599000	0.40250	0.278000	0.25122	1.000000	0.68203	0.826000	0.38927	0.0:1.0:0.0:0.0	19.083	0.93173	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	0.002520	0.000000	0.000000	0.011765	0.000000	0.008621	0.000000	0.000000	0.05263	4870.83	254	chr10	113614942	.	C	T	4870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1078;ExcessHet=0.119;FS=2.445;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.545;SOR=0.871	GT:AD:DP:GQ:PL	0/1:94,86:180:99:2007,0,2078	17	0	2	0
chr10	114254993	114254993	G	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.G206T:p.R69M,VWA2:NM_001320804:exon4:c.G206T:p.R69M	.	433	1081	8	0	0	8	0.00368664	.	.	.	3212798	VWA2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.591	0.0374396840868	0.0016	0.00139776	0.0019	0.0004	0.0007	0	0.0057	0.0027	0.0034	0.0001	0.0018693	289	154602	rs149309552	0.0023	0.0023	0.0023	0.0022	0.0028	0.0022	0.0022	0.0024	0.0024	0.0003	0.0012	0.0013	0	0.0064	0.0028	0.0025	0.0019	0.0001	0.0021	0.0021	0.0022	0.0020	0.0033	0.0019	0.0019	0.0025	0.0023	0.0005	0	0.0033	0.0037	0	0.0055	0.0034	0.0027	0.0005	0	0.115	0.28520	T	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.050292	0.986371	0.40422	D	2.61	0.76335	M	-1.74	0.83413	D	-2.11	0.48020	N	0.71	0.71321	0.241	0.86601	D	0.624	0.86784	D	10	0.022470683	0.00562	T	0.03744	0.57615	D	0.591	0.83691	.	.	0.715455935902	0.71296	0.7407333125427435	0.74018	.	.	0.477177649736	0.35668	T	0.119623	0.44129	T	-0.105086	0.35581	T	0.0716601	0.75021	D	0.0489822556685598	0.05320	T	0.833317	0.50212	T	0.4309146	0.62812	0.40183714	0.64682	0.4309146	0.62813	0.40183714	0.64682	-11.213	0.80813	D	0.6293867783956955	0.69861	0.319	0.54405	B	.	.	4.682282	0.74937	26.2	0.96441730639357182	0.29830	0.96169	0.67850	D	AEFGI	0.812973	0.73557	D	0.837202722487644	0.88366	9.552076	0.823361688343635	0.91367	10.85145	0.999998474186516	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	5.22	0.72285	4.686000	0.61388	6.634000	0.56161	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1483:0.8517:0.0	14.325	0.66073	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1525.33	33	chr10	114254993	.	G	T	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=815;ExcessHet=0;FS=5.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=1.08;SOR=1.121	GT:AD:DP:GQ:PL	0/1:111,70:181:99:1539,0,2741	18	0	1	0
chr10	122589187	122589187	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_017579:exon16:c.C1997T:p.S666F,DMBT1:NM_001320644:exon17:c.C2027T:p.S676F,DMBT1:NM_001377530:exon17:c.C2027T:p.S676F,DMBT1:NM_007329:exon17:c.C2027T:p.S676F	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0003	0.00339457	0.0016	0	0.0008	0.0002	0	0.0006	0.0011	0.0084	0.0014101	218	154602	rs202084523	0.0010	0.0010	0.0007	0.0013	0.0092	0.0009	0.0009	0.0087	0.0085	5.986e-05	0.0007	0.0002	5.276e-05	7.812e-05	0.0051	0.0005	0.0010	0.0092	0.0007	0.0007	0.0004	0.0010	0.0089	0.0006	0.0005	0.0067	0.0059	9.697e-05	0	0.0007	0.0003	0	0.0001	0.0068	0.0006	0	0.0089	0.152	0.24468	T	0.009	0.67890	D	0.996	0.68779	D	0.891	0.63213	P	0.906653	0.07389	N	1.054520	1	0.24867	N	2.88	0.83451	M	0.88	0.46028	T	-2.51	0.54546	D	0.346	0.40164	-0.7880	0.55846	T	0.309	0.67940	T	10	0.0075699687	0.00172	T	.	.	.	0.148	0.39182	.	.	0.630964554901	0.62794	0.4149988957007464	0.41415	0.0555837444901	0.06145	0.631226539612	0.57320	T	0.239083	0.60712	T	-0.490901	0.00642	T	-0.570658	0.15389	T	0.0520169390980536	0.05849	T	0.464354	0.13557	T	0.07848272	0.17874	0.122132696	0.29462	0.07848272	0.17874	0.122132696	0.29461	-10.417	0.76386	D	.	.	0.340	0.63965	B	.;.;.;.;.	.;.;.;.;.	1.657583	0.21145	15.07	0.9801003614533863	0.37544	0.16642	0.19483	N	AEFGBI	0.173271	0.30035	N	-0.133205203442575	0.35952	2.071676	-0.402320707232909	0.24929	1.367945	0.999819169485465	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	2.09	0.26154	-0.512000	0.06397	.	.	0.430000	0.20916	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3025:0.6975:0.0:0.0	12.43	0.54905	809	0.43032	.;.;.;SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR-like 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	0.005584	0.000000	0.004098	0.002959	0.000000	0.017241	0.006173	0.015267	0.02632	3333.33	35	chr10	122589187	.	C	T	3333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.494;DP=889;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=15.02;ReadPosRankSum=0.613;SOR=0.852	GT:AD:DP:GQ:PL	0/1:101,121:222:99:3347,0,2680	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	0/1:67,21:107:7:7,0,1143	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|1:97,35:132:99:0|1:124989533_G_A:1055,0,3869:124989533	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	0/1:106,28:134:99:642,0,3565	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:122,16:138:69:69,0,3289	4	0	10	5
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|1:146,25:171:99:0|1:124994489_T_G:610,0,6003:124994489	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|1:147,28:175:99:0|1:124994489_T_G:692,0,6088:124994489	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|1:148,28:176:99:0|1:124994489_T_G:689,0,6102:124994489	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|1:160,30:190:99:0|1:124994523_G_A:634,0,6475:124994523	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	0/1:160,23:183:65:65,0,4445	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	0/1:155,32:187:99:235,0,4258	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|1:160,32:192:99:0|1:124994577_C_A:862,0,6385:124994577	0	0	19	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	446.39	235	chr10	125003006	.	T	C	446.39	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.486;DP=2698;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.097;QD=0.84;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,9:115:59:.:.:59,0,4398:.	5	0	5	9
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	419.35	233	chr10	125003008	.	T	C	419.35	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.65;DP=2690;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.21;MQRankSum=-5.097;QD=0.78;ReadPosRankSum=0.883;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,9:115:59:0|1:125003008_T_C:59,0,4398:125003008	5	0	5	9
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	440.56	235	chr10	125003010	.	C	T	440.56	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.965;DP=2699;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3359;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.032;QD=0.83;ReadPosRankSum=0.743;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,9:115:59:0|1:125003008_T_C:59,0,4398:125003008	5	0	5	9
chr10	132330350	132330350	T	C	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318883:exon2:c.A391G:p.I131V	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.002651	69	26028	rs190619910	0.0033	0.0030	0.0028	0.0038	0.0103	0.0032	0.0032	0.0097	0.0094	0.0002	0.0013	0.0082	3.186e-05	0.0008	0.0061	0.0027	0.0033	0.0103	0.0021	0.0021	0.0019	0.0023	0.0112	0.0019	0.0018	0.0088	0.0080	0.0002	0	0.0021	0.0064	0.0002	0.0008	0	0.0027	0.0043	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2654.33	43	chr10	132330350	.	T	C	2654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=945;ExcessHet=0;FS=2.438;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.693;SOR=0.538	GT:AD:DP:GQ:PL	0/1:103,100:203:99:2668,0,2462	18	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1460.79	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1460.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.114;DP=694;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=-0.422;SOR=0.72	GT:AD:DP:GQ:PL	0/1:11,19:30:99:763,0,357	17	0	2	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.02632	1481.33	37	chr11	551741	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.289;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.39;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,65:127:99:0|1:551741_C_T:1495,0,1541:551741	18	0	1	0
chr11	800660	800660	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon12:c.G1924A:p.A642T,PIDD1:NM_145887:exon12:c.G1924A:p.A642T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0173068111264	.	0.000199681	0.0001	0.0008	0	0	0	0	0.0028	0.0002	5.17e-05	8	154602	rs535948800	1.189e-05	1.573e-05	9.724e-06	1.408e-05	0.0002	7.24e-06	5.92e-06	4.696e-05	3.457e-05	0	0	0	0	0	0.0002	5.442e-06	3.36e-05	9.549e-05	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0002	8.14e-06	5.14e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	0	0	0.0002	0.47	0.12386	T	1.0	0.01155	T	0.208	0.29916	B	0.02	0.23831	B	0.068495	0.21669	N	0.451895	1	0.08975	N	0.84	0.21119	L	1.94	0.22678	T	-0.43	0.14978	N	0.17	0.18103	-0.9774	0.35593	T	0.015	0.06282	T	10	0.014308423	0.00301	T	0.017307	0.38957	T	0.015	0.02232	.	.	0.0806252709748	0.07271	0.29904573892107195	0.29817	0.0402692846191	0.04312	0.606745541096	0.53856	T	0.171888	0.52018	T	-0.326033	0.06415	T	-0.706101	0.05499	T	0.0164711326360703	0.00412	T	0.630737	0.24588	T	0.06868194	0.14982	0.055218164	0.09643	0.06868194	0.14982	0.055218164	0.09643	-5.918	0.45588	T	.	.	0.087	0.13597	B	.;.	.;.	1.784775	0.22693	15.72	0.98454310919629506	0.41665	0.02475	0.06940	N	AEFBI	0.069695	0.13806	N	-0.985255520921504	0.08918	0.4200196	-1.0183998716099	0.09380	0.466382	0.0716741847715521	0.15575	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.72	0.427	0.15704	0.106000	0.15191	0.996000	0.23227	0.469000	0.21855	0.015000	0.19116	0.534000	0.25378	0.248000	0.23210	0.0:0.3342:0.2383:0.4275	5.221	0.14689	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	35	chr11	800660	.	C	T	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.731;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.176;SOR=0.784	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1144,0,774	18	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:322,41:390:99:.:.:752,0,13397:.	5	0	14	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|1:108,87:195:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:3115,0,4091:1630355	8	2	9	0
chr11	2402712	2402712	G	A	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.G79A:p.D27N,TSSC4:NM_005706:exon3:c.G79A:p.D27N,TSSC4:NM_001297658:exon4:c.G79A:p.D27N,TSSC4:NM_001297660:exon4:c.G79A:p.D27N	.	418	1100	4	0	0	4	0.00181488	.	.	.	2200326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.299960002199	0.0002	.	0.0002	0.0002	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs200824597	3.858e-05	4.036e-05	2.084e-05	5.668e-05	0.0002	3.035e-05	2.723e-05	0.0001	0.0001	0	0	0	0	0	0	3.292e-05	1.694e-05	0.0002	2.627e-05	2.625e-05	3.855e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001424	0.39044	U	0.154525	0.996848	0.81001	D	2.215	0.62545	M	1.29	0.62762	T	-2.13	0.79399	N	0.43	0.46928	-0.3154	0.74551	T	0.379	0.73632	T	9	0.2556281	0.42957	T	0.29996	0.90849	D	0.146	0.38789	.	.	0.467752868181	0.46400	0.3262041468275406	0.32533	0.128873600519	0.14530	0.655956447124	0.60831	T	0.113648	0.64021	T	-0.322253	0.06715	T	-0.382598	0.35419	T	0.311234066092622	0.25465	T	0.832317	0.50011	T	0.19163921	0.40800	0.25838077	0.51570	0.19163921	0.40800	0.25838077	0.51569	-6.213	0.48028	T	.	.	0.215	0.45954	B	.;.;.;.;.;.	.;.;.;.;.;.	3.904582	0.56897	23.8	0.99881049337590655	0.95733	0.87884	0.47580	D	AEFBCI	0.403091	0.47692	N	0.31573764926233	0.56956	3.861337	0.182091263350811	0.48866	3.096914	0.999999998774045	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.61	3.61	0.40494	2.685000	0.46626	5.929000	0.51288	0.662000	0.56354	0.962000	0.33725	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	12.929	0.57671	988	0.01987	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1620.33	33	chr11	2402712	.	G	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.266;DP=845;ExcessHet=0;FS=2.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.766;SOR=0.932	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1634,0,1373	18	0	1	0
chr11	5226576	5226576	C	T	splicing	HBB	NM_000518:exon2:c.315+1G>A	.	.	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	1	1514	7	0	0	7	0.00230643	1.0000	0.948	YES	30477	Beta-thalassemia_HBB/LCRB|Erythrocytosis,_familial,_6|METHEMOGLOBINEMIA,_BETA_TYPE|Hb_SS_disease|Heinz_body_anemia|Hereditary_persistence_of_fetal_hemoglobin|Malaria,_susceptibility_to|Dominant_beta-thalassemia|not_specified|Beta_zero_thalassemia|not_provided|beta_Thalassemia	MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985|MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980|MedGen:C1840779,OMIM:617971|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848|MedGen:CN169374|MedGen:C0271980|MedGen:C3661900|MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.125e-05	0.0002	0	0	0	3.003e-05	0	6.057e-05	3.23e-05	5	154602	rs33945777	3.08e-05	3.078e-05	2.451e-05	3.714e-05	0.0010	2.348e-05	2.096e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0010	1.35e-05	0.0002	0.0001	4.601e-05	4.597e-05	5.138e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	7.893e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9103708	0.90401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409586	0.90459	D	0.63	0.97656	D	.	.	.	0.230677	0.03117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73458	P	.	.	5.304481	0.89052	29.8	0.99344039951916285	0.60291	0.96075	0.67419	D	AEFGBHCI	.	.	.	1.02008625056633	0.96331	14.56554	0.822344664021486	0.91300	10.81854	0.999999700040334	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.977528	0.81219	4.69	4.69	0.58546	5.658000	0.67673	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.517000	0.29406	0.0:1.0:0.0:0.0	15.933	0.79471	862	0.33134	Globin|Globin	.	.	.	.	.	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	1747.33	134	chr11	5226576	.	C	T	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.644;DP=2693;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.063;SOR=0.618	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1761,0,2092	18	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,35:145:99:.:.:104,0,2646:.	5	0	9	5
chr11	5679822	5679822	C	T	exonic	TRIM5	.	nonsynonymous SNV	TRIM5:NM_033034:exon2:c.G356A:p.R119Q,TRIM5:NM_033092:exon2:c.G356A:p.R119Q,TRIM5:NM_033093:exon2:c.G356A:p.R119Q	.	417	1101	3	1	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00789858000007	0.0005	0.000399361	0.0010	0	0.0067	0	0	0.0005	0.0011	0.0001	0.0008409	130	154602	rs141805034	0.0004	0.0004	0.0005	0.0004	0.0042	0.0004	0.0004	0.0037	0.0035	0.0002	0.0042	3.834e-05	5.038e-05	0	0.0005	0.0004	0.0005	0.0001	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0	0.0005	0.0010	0	0.089	0.32141	T	0.318	0.26226	T	0.996	0.68779	D	0.826	0.59373	P	0.000167	0.48594	D	0.000000	1	0.08975	N	1.06	0.26948	L	1.02	0.40749	T	-3.23	0.71762	D	0.132	0.31814	-1.0399	0.17343	T	0.118	0.41582	T	10	0.010180026	0.00228	T	0.007899	0.20955	T	0.101	0.28911	.	.	0.642719681824	0.63976	0.45144758773202437	0.45062	0.342242573836	0.36158	0.247449249029	0.03503	T	0.029041	0.20900	T	-0.521761	0.00430	T	-0.521571	0.20136	T	0.0913536100896008	0.11378	T	0.742326	0.36163	T	0.2021104	0.42244	0.18727897	0.41951	0.2021104	0.42244	0.18727897	0.41950	-8.784	0.73996	D	.	.	0.254	0.51411	B	.;.;.;.	.;.;.;.	3.124649	0.42199	21.5	0.99867310749063709	0.94547	0.05626	0.11535	N	AEFDBI	0.085425	0.17316	N	0.029448495280691	0.43199	2.617454	0.00063044947733816	0.39745	2.361311	0.994273533351118	0.33564	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.07	4.07	0.46726	-1.000000	0.03804	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.944000	0.48669	0.0:0.8906:0.0:0.1094	7.928	0.29047	867	0.32089	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2064.33	122	chr11	5679822	.	C	T	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=1192;ExcessHet=0;FS=1.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.3;SOR=0.905	GT:AD:DP:GQ:PL	0/1:82,82:164:99:2078,0,1942	18	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:68:0|1:6200107_C_G:68,0,3891:6200107	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:68:0|1:6200107_C_G:68,0,3891:6200107	10	0	9	0
chr11	6390705	6390717	TGCTGGCGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	*	48070.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,32:60:99:1|0:6390700_CCTGGTGCTGGCG_C:2443,1177,1443:6390700	16	0	3	0
chr11	6498331	6498331	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon2:c.A116G:p.Q39R,DNHD1:NM_144666:exon3:c.A116G:p.Q39R	.	424	1089	8	1	0	10	0.00457038	.	.	.	713013	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0002	0.00399361	0.0020	0.0002	0.0022	0	0.0003	0.0008	0.0033	0.0093	0.0017982	278	154602	rs140872512	0.0014	0.0014	0.0012	0.0016	0.0076	0.0013	0.0013	0.0071	0.0069	0.0003	0.0027	0.0010	0	0.0003	0.0036	0.0010	0.0019	0.0076	0.0010	0.0010	0.0008	0.0011	0.0066	0.0008	0.0008	0.0048	0.0042	0.0002	0	0.0026	0.0003	0	0	0.0034	0.0009	0.0024	0.0066	0.538	0.09128	T	0.0	0.92824	D	0.004	0.12183	B	0.004	0.10090	B	0.015371	0.28265	N	0.251150	1	0.08975	N	1.04	0.26193	L	1.67	0.27331	T	-0.88	0.32185	N	0.105	0.20528	-1.0400	0.17313	T	0.034	0.14813	T	10	0.00371477	0.00069	T	.	.	.	0.043	0.11576	.	.	0.258283824007	0.25425	0.17349271139081857	0.17269	0.126673817958	0.14272	0.250474870205	0.03818	T	0.009248	0.08431	T	-0.609161	0.00128	T	-0.641538	0.09557	T	0.00466466240997347	0.00050	T	0.40366	0.10339	T	0.055514015	0.10798	0.062225383	0.12142	0.055514015	0.10797	0.062225383	0.12141	-3.246	0.13051	T	.	.	0.071	0.06896	B	.;.;.	.;.;.	0.635637	0.10040	6.792	0.97041448522657536	0.32113	0.14574	0.18475	N	AEFDBCIJ	0.038647	0.05500	N	-0.798425020604011	0.13352	0.6570904	-0.801763829627763	0.14453	0.755228	0.982952066627204	0.30481	0.632932	0.41330	0	0.577304	0.33150	0	0.601832	0.32385	0	0.491896	0.07777	0	.	.	5.18	2.85	0.32333	0.775000	0.26351	-0.267000	0.10379	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.8001:0.0:0.1999:0.0	6.125	0.19391	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	0.003525	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.05263	4449.83	203	chr11	6498331	.	A	G	4449.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=1123;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.98;SOR=0.638	GT:AD:DP:GQ:PL	0/1:83,83:166:99:1904,0,1895	17	0	2	0
chr11	6633485	6633485	C	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.G2382C:p.Q794H	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	427	1088	6	1	0	8	0.003663	.	.	.	431551	not_provided|Van_Maldergem_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0011070,MedGen:C4551950,OMIM:601390,Orphanet:314679|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	.	7.7e-05	0.00219649	0.0027	0	0.0029	0	0	6.493e-05	0	0.0099	0.0008409	130	154602	rs369091875	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	0	0	0.0002	0	0	0.0014	6.035e-05	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0	0	0.0002	0	0	0	0.0034	0.0001	0.0009	0.0064	0.058	0.37750	T	0.117	0.36365	T	0.992	0.64738	D	0.976	0.73562	D	0.000634	0.42799	D	0.000000	0.935408	0.37120	D	0.55	0.14455	N	1.13	0.38556	T	-2.93	0.61284	D	0.591	0.61087	-0.8920	0.48758	T	0.152	0.48032	T	10	0.011134207	0.00245	T	.	.	.	0.115	0.32236	0.481	0.56142	0.497697140016	0.49406	0.48284805263663944	0.48204	0.440242222381	0.44036	0.55001026392	0.45859	T	0.478799	0.80847	T	-0.469449	0.00857	T	-0.441275	0.28665	T	0.116636785214583	0.14097	T	0.843516	0.52087	T	0.32181272	0.54792	0.27944338	0.53912	0.32181272	0.54792	0.27944338	0.53911	-3.749	0.20044	T	.	.	0.225	0.45714	B	.	.	2.738643	0.35869	20.1	0.99255975317004197	0.57055	0.88362	0.48255	D	AEFBI	0.282400	0.39575	N	0.323767281497206	0.57371	3.904129	0.299219394258239	0.55495	3.712402	0.945413264443418	0.27659	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.84	2.97	0.33479	1.688000	0.37308	0.557000	0.19475	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.8225:0.0:0.1775	9.159	0.36168	231	0.90996	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	928.33	47	chr11	6633485	.	C	G	928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=752;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.52;SOR=0.512	GT:AD:DP:GQ:PL	0/1:44,36:80:99:942,0,1161	18	0	1	0
chr11	6955800	6955800	A	G	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.A109G:p.R37G,ZNF215:NM_001354859:exon5:c.A109G:p.R37G,ZNF215:NM_001354860:exon5:c.A109G:p.R37G,ZNF215:NM_001354855:exon6:c.A145G:p.R49G,ZNF215:NM_001354856:exon6:c.A145G:p.R49G,ZNF215:NM_001354857:exon6:c.A145G:p.R49G,ZNF215:NM_001354853:exon7:c.A823G:p.R275G,ZNF215:NM_013250:exon7:c.A823G:p.R275G	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00194349633968	0.0002	0.000199681	0.0005	9.856e-05	0.0003	0	0.0027	0.0005	0	0.0004	0.000414	64	154602	rs150103468	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	2.989e-05	0.0002	0	0	0.0025	0.0005	0.0001	0.0003	0.0007	0.0003	0.0003	0.0002	0.0005	0.0021	0.0003	0.0002	0.0011	0.0009	9.618e-05	0	0.0002	0	0	0.0020	0	0.0002	0	0.0021	0.494	0.07895	T	0.084	0.41239	T	0.002	0.09854	B	0.002	0.06944	B	0.080359	0.20929	N	0.410160	0.999999	0.22868	N	1.75	0.45442	L	3.32	0.06214	T	-2.04	0.46842	N	0.112	0.09914	-0.9449	0.41830	T	0.010	0.03582	T	10	0.0038570166	0.00073	T	0.001943	0.03456	T	0.021	0.04004	.	.	0.0954503805726	0.09146	0.0982422018143448	0.09755	0.005406421976	0.00476	0.235214784741	0.02376	T	0.017801	0.14461	T	-0.514085	0.00476	T	-0.624505	0.10834	T	0.0168284865909026	0.00437	T	0.614539	0.23442	T	0.09558753	0.22499	0.07421685	0.16211	0.09558753	0.22499	0.07421685	0.16211	-2.533	0.06011	T	.	.	0.416	0.60469	A	.;.	.;.	1.936610	0.24595	16.46	0.96223899831596471	0.29097	0.09148	0.14961	N	AEFDBI	0.071001	0.14116	N	-1.16252718273214	0.05576	0.2545868	-1.16673131906523	0.06473	0.3116789	0.701303357371062	0.22703	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.45	1.11	0.19640	0.127000	0.15617	0.551000	0.19421	-0.065000	0.16512	0.001000	0.13787	0.000000	0.08366	0.744000	0.35576	0.7778:0.0:0.2222:0.0	6.485	0.21281	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1781.33	34	chr11	6955800	.	A	G	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.555;DP=1344;ExcessHet=0;FS=2.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.214;SOR=0.608	GT:AD:DP:GQ:PL	0/1:74,76:150:99:1795,0,1892	18	0	1	0
chr11	8730845	8730845	C	G	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376498:exon3:c.G445C:p.G149R,DENND2B:NM_213618:exon3:c.G445C:p.G149R,DENND2B:NM_001376497:exon4:c.G445C:p.G149R,DENND2B:NM_001376496:exon5:c.G445C:p.G149R,DENND2B:NM_005418:exon6:c.G445C:p.G149R,DENND2B:NM_001376495:exon7:c.G445C:p.G149R	.	.	.	.	.	.	.	.	.	.	.	3236941	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00605008867724	.	0.000199681	8.561e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs201689848	7.529e-06	7.525e-06	4.086e-06	1.101e-05	0.0002	4.04e-06	2.95e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0.0002	0	3.312e-05	0	6.565e-06	6.562e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.048	0.42783	D	0.442	0.57587	T	0.026	0.19406	B	0.021	0.19346	B	0.020522	0.27020	N	0.408862	1	0.81001	D	0.69	0.16971	N	3.54	0.04799	T	0.38	0.35792	N	0.18	0.20660	-0.9822	0.34491	T	0.015	0.06282	T	10	0.07304308	0.10985	T	0.00605	0.15816	T	0.045	0.12272	.	.	0.102598925029	0.09809	0.06955909251416757	0.06893	0.29671546601	0.32059	0.505133867264	0.39543	T	0.020068	0.20139	T	-0.35053	0.04694	T	-0.558521	0.16515	T	0.0297859169604579	0.01956	T	0.80292	0.44963	T	0.03207306	0.03165	0.061971128	0.12051	0.03207306	0.03164	0.061971128	0.12051	-3.219	0.12714	T	.	.	0.134	0.50916	B	.;.;.;.	.;.;.;.	2.213810	0.28248	17.73	0.92607283525117279	0.22072	0.72629	0.35543	D	AEFBCI	0.459198	0.50991	N	-0.629403733614248	0.18065	0.9348926	-0.493421624730811	0.22334	1.212576	0.999534126224503	0.40238	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	5.87	3.57	0.40014	3.031000	0.49417	3.520000	0.38893	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.1276:0.0:0.8724	10.063	0.41459	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1864.33	42	chr11	8730845	.	C	G	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.941;SOR=0.714	GT:AD:DP:GQ:PL	0/1:58,76:134:99:1878,0,1384	18	0	1	0
chr11	20156342	20156342	C	T	exonic	DBX1	.	nonsynonymous SNV	DBX1:NM_001029865:exon4:c.G904A:p.D302N	.	406	1106	10	0	0	10	0.00450045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0055	0.00359425	0.0049	0.0019	0.0022	0	0.0024	0.0068	0.0078	0.0049	0.0045472	703	154602	rs61732858	0.0081	0.0080	0.0082	0.0079	0.0096	0.0079	0.0079	0.0094	0.0093	0.0015	0.0024	8.118e-05	0	0.0027	0.0030	0.0096	0.0077	0.0038	0.0050	0.0050	0.0055	0.0045	0.0083	0.0047	0.0046	0.0077	0.0075	0.0017	0.0022	0.0047	0	0.0002	0.0024	0	0.0083	0.0052	0.0039	0.015	0.52492	D	0.235	0.24767	T	.	.	.	.	.	.	0.016238	0.28032	N	0.297294	0.567636	0.32266	D	1.52	0.38360	L	-2.7	0.90509	D	-0.77	0.21429	N	0.242	0.27316	0.361	0.88509	D	0.575	0.84658	D	10	0.0057388544	0.00128	T	.	.	.	0.191	0.46948	.	.	0.943719225583	0.94312	0.18029075501156175	0.17948	.	.	0.595718979836	0.52300	T	0.039174	0.25099	T	-0.432373	0.01434	T	-0.386031	0.35017	T	0.0289036193510652	0.01823	T	0.635136	0.24942	T	0.14899398	0.33989	0.14180402	0.33757	0.14899398	0.33989	0.14180402	0.33756	-5.179	0.38728	T	.	.	0.090	0.12797	B	.	.	3.978908	0.58476	24.0	0.99832354534946666	0.91370	0.98053	0.79201	D	AEFBI	0.527134	0.54920	D	0.195677941787636	0.50992	3.284092	0.192290326259138	0.49422	3.145715	0.999999999954946	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.92	4.92	0.64147	2.790000	0.47512	4.767000	0.44750	0.599000	0.40250	0.574000	0.27538	0.997000	0.33255	0.708000	0.34389	0.0:1.0:0.0:0.0	17.735	0.88298	934	0.15400	.	.	.	.	.	.	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	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	898.33	34	chr11	20156342	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.28;DP=702;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.561;SOR=0.941	GT:AD:DP:GQ:PL	0/1:31,38:69:99:912,0,882	18	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1687.47	64	chr11	33085953	.	G	A	1687.47	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:70:0|1:33085952_T_C:70,0,2127:33085952	4	0	5	10
chr11	34140562	34140562	C	T	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon22:c.C2366T:p.A789V,NAT10:NM_024662:exon24:c.C2582T:p.A861V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0188513955688	0.0003	0.000798722	0.0005	9.841e-05	0.0002	0.0001	0	0.0007	0	0.0006	0.0005433	84	154602	rs145204141	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	2.987e-05	6.711e-05	3.828e-05	0	7.488e-05	0.0035	0.0007	0.0002	0.0005	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	0.0003	0	0	0	0	9.423e-05	0	0.0006	0	0.0012	0.436	0.09866	T	0.501	0.11299	T	0.013	0.16609	B	0.014	0.16862	B	0.000000	0.84330	D	0.047074	1	0.81001	D	1.355	0.33814	L	1.53	0.30669	T	-1.98	0.46673	N	0.508	0.54757	-1.0860	0.06227	T	0.062	0.25780	T	10	0.03394699	0.01586	T	0.018851	0.41045	T	0.130	0.35528	.	.	0.325533332567	0.32158	0.4104256590947919	0.40958	0.200818743576	0.22476	0.672589898109	0.63207	T	0.052487	0.29175	T	-0.401079	0.02278	T	-0.389432	0.34618	T	0.0292094429392417	0.01870	T	0.947205	0.80662	D	0.15040113	0.34240	0.15845749	0.37002	0.15040113	0.34240	0.15845749	0.37002	-6.516	0.50410	T	.	.	0.091	0.29172	B	.;.;.	.;.;.	3.323181	0.45711	22.2	0.60048397728169534	0.06369	0.98571	0.84224	D	AEFDGBI	0.587605	0.58519	D	-0.341270042754566	0.27595	1.51522	-0.226939693393318	0.30574	1.722699	0.999999956449119	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	6.072000	0.70870	3.325000	0.37578	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.063000	0.16184	0.0:1.0:0.0:0.0	19.279	0.94029	338	0.86082	Possible tRNA binding domain;.;Possible tRNA 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1274.33	33	chr11	34140562	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=778;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.034;SOR=0.593	GT:AD:DP:GQ:PL	0/1:84,57:141:99:1288,0,1928	18	0	1	0
chr11	45903154	45903154	G	A	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.G1387A:p.V463I	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0238716936176	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0003	0	0.0003	0.0001876	29	154602	rs201654835	0.0001	0.0001	0.0001	0.0001	0.0007	9.803e-05	9.277e-05	0.0003	0.0003	0	0.0004	0	0	3.922e-05	0.0007	8.489e-05	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0006	9.74e-05	8.255e-05	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.113	0.28772	T	0.091	0.41074	T	0.947	0.53479	P	0.362	0.43260	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.65	0.77586	M	0.95	0.43279	T	-0.51	0.15986	N	0.592	0.61172	-0.8907	0.48873	T	0.121	0.42122	T	10	0.18819338	0.34364	T	0.023872	0.46847	T	0.087	0.25287	.	.	0.483898778967	0.48023	0.2689587552835672	0.26808	0.398042137382	0.40875	0.763436734676	0.76441	T	0.458588	0.79651	T	-0.310006	0.07747	T	-0.377102	0.36061	T	0.0524237240873991	0.05920	T	0.876912	0.58964	D	0.16282658	0.36385	0.13142736	0.31558	0.16282658	0.36385	0.13142736	0.31558	-7.593	0.58262	D	.	.	0.164	0.36214	B	.;.	.;.	3.863496	0.56045	23.7	0.99634245549321998	0.76264	0.72708	0.35579	D	AEFDGBCI	0.471670	0.51711	N	0.402867535844866	0.61581	4.361038	0.424490584255321	0.63093	4.536558	0.999991394628772	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	6.682000	0.74361	11.755000	0.95496	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.335	0.87166	459	0.78817	.;.	.	.	.	.	.	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	1736.33	35	chr11	45903154	.	G	A	1736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.109;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.517;SOR=0.651	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1750,0,1472	18	0	1	0
chr11	47346320	47346320	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon12:c.G977A:p.R326Q	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	51983	Hypertrophic_cardiomyopathy_4|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Primary_dilated_cardiomyopathy|Premature_ventricular_contraction|Cardiomyopathy|not_provided|Left_ventricular_noncompaction_10|Dilated_cardiomyopathy_1A|Cardiovascular_phenotype	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0025	0.000798722	0.0055	0.0004	0.0013	0	0.0155	0.0078	0.0029	0.0009	0.0039068	604	154602	rs34580776	0.0030	0.0030	0.0029	0.0030	0.0056	0.0029	0.0029	0.0040	0.0035	0.0002	0.0007	0.0005	0	0.0128	0.0056	0.0030	0.0028	0.0007	0.0035	0.0035	0.0029	0.0041	0.0050	0.0032	0.0031	0.0045	0.0044	0.0002	0	0.0005	0.0012	0	0.0152	0.0068	0.0050	0.0024	0.0008	0.026	0.47320	D	0.048	0.48855	D	0.046	0.21875	B	0.009	0.14300	B	.	.	.	.	0.784634	0.34310	D	2.2	0.62015	M	0.35	0.58323	T	-1.59	0.38345	N	0.266	0.30118	-0.7825	0.56161	T	0.115	0.40717	T	9	0.0062505305	0.00141	T	.	.	.	0.078	0.22779	.	.	0.836203837585	0.83464	0.37549856997446823	0.37463	0.258872466173	0.28441	0.551675438881	0.46094	T	0.262852	0.63447	T	-0.470838	0.00840	T	-0.442138	0.28569	T	0.0118430688592453	0.00184	T	0.956104	0.83363	D	0.15626739	0.35273	0.12901963	0.31031	0.13204284	0.30759	0.13189328	0.31660	-7.187	0.55388	T	0.1617806110163004	0.19829	0.137	0.41541	B	.;.;.	.;.;.	3.570152	0.50282	22.9	0.99874561200912515	0.95160	0.88877	0.49021	D	AEFDGBI	0.705996	0.66120	D	-0.0544102588932143	0.39404	2.32329	0.0950405038850003	0.44299	2.71434	0.977705539970523	0.29847	0.569682	0.32691	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.7	4.7	0.58776	1.164000	0.31420	3.959000	0.40733	0.597000	0.34315	0.305000	0.25370	0.999000	0.35428	0.961000	0.51904	0.0:0.9163:0.0:0.0837	11.343	0.48782	17	0.98681	.;.;.	.	.	.	.	rs34580776	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1244.33	33	chr11	47346320	.	C	T	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.778;DP=720;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.472;SOR=0.362	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1258,0,864	18	0	1	0
chr11	47848303	47848303	C	A	exonic	NUP160	.	nonsynonymous SNV	NUP160:NM_001318399:exon1:c.G118T:p.A40S,NUP160:NM_015231:exon1:c.G118T:p.A40S	.	415	1094	11	1	1	14	0.00590641	.	.	.	1662120	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	0.00659644264226	0.0031	0.000998403	0.0029	0.0025	0.0006	0	0.0009	0.0038	0.0023	0.0035	0.0027037	418	154602	rs2305984	0.0022	0.0022	0.0021	0.0022	0.0082	0.0021	0.0021	0.0063	0.0056	0.0021	0.0010	0.0101	2.519e-05	0.0010	0.0082	0.0021	0.0024	0.0029	0.0025	0.0025	0.0025	0.0025	0.0029	0.0023	0.0022	0.0024	0.0023	0.0025	0	0.0014	0.0107	0.0002	0.0006	0.0136	0.0027	0.0052	0.0029	0.488	0.08813	T	0.534	0.09965	T	0.001	0.22494	B	0.001	0.22329	B	0.212600	0.16329	N	0.572712	1	0.20516	P	0	0.06538	N	1.49	0.48769	T	0.16	0.06868	N	0.106	0.09066	-0.9513	0.40747	T	0.061	0.25492	T	9	0.007934034	0.00180	T	0.006596	0.17386	T	0.014	0.01968	.	.	0.168933306366	0.16529	0.16610236180677404	0.16530	0.181975155132	0.20459	0.603792905807	0.53439	T	0.009829	0.08919	T	-0.643867	0.00079	T	-0.699752	0.05840	T	0.00322486483557388	0.00034	T	.	.	.	0.038951226	0.05285	0.0616373	0.11934	0.038951226	0.05285	0.0616373	0.11933	-3.912	0.22482	T	.	.	0.080	0.07554	B	.;.	.;.	0.912150	0.12864	9.378	0.70929330870893792	0.09458	0.17755	0.19974	N	ALL	0.047312	0.07954	N	-1.22654120302645	0.04618	0.2088065	-1.19316865482438	0.06023	0.2886987	0.999999999999966	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.85	-2.6	0.05830	-0.101000	0.10943	-0.078000	0.12213	-2.088000	0.00400	0.791000	0.29607	0.450000	0.24948	0.073000	0.16832	0.4641:0.4659:0.0:0.07	10.303	0.42846	17	0.98681	.;.	.	.	.	.	.	Likely benign	0	0	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	1452.33	35	chr11	47848303	.	C	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=788;ExcessHet=0;FS=2.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.39;SOR=0.909	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1466,0,2003	18	0	1	0
chr11	49034211	49034211	T	G	exonic	TRIM49B	.	nonsynonymous SNV	TRIM49B:NM_001206626:exon4:c.T573G:p.H191Q	.	555	965	2	0	0	2	0.0010352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0023235036798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.132e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.44	0.36004	L	3.63	0.04353	T	-2.45	0.53577	N	0.16	0.16725	-0.9574	0.39662	T	0.018	0.07518	T	6	0.10346818	0.19022	T	0.002324	0.04479	T	0.054	0.15330	0.571	0.69431	0.0482279557977	0.04254	0.011179449716623784	0.01077	1.77852846044	0.91373	0.588129758835	0.51229	T	0.074669	0.34994	T	-0.382476	0.03006	T	-0.787177	0.02243	T	0.0614861522662565	0.07400	T	0.380262	0.09172	T	0.13900717	0.32127	0.14321564	0.34043	0.13900717	0.32127	0.14321564	0.34042	-4.523	0.31188	T	.	.	0.116	0.23465	B	.;.	.;.	-0.609357	0.01547	0.101	0.46413849297317122	0.03716	0.00081	0.00551	N	AEFI	0.019368	0.00666	N	-0.869148266123517	0.11581	0.5596946	-1.13919058220606	0.06963	0.3370097	1.53334039614145E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.689	-1.38	0.08554	-1.763000	0.01900	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	190	0.92594	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3225.33	44	chr11	49034211	.	T	G	3225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=1034;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.06;MQRankSum=-2.436;QD=11.08;ReadPosRankSum=-0.751;SOR=0.589	GT:AD:DP:GQ:PL	0/1:159,132:291:99:3239,0,3797	18	0	1	0
chr11	56159737	56159737	T	G	exonic	OR8K5	.	nonsynonymous SNV	OR8K5:NM_001004058:exon1:c.A581C:p.E194A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00352387521913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335288552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.016	0.51853	D	0.558	0.09175	T	0.751	0.43285	P	0.446	0.45959	B	0.011625	0.29459	N	0.244558	1	0.08975	N	-0.16	0.04340	N	7.77	0.00338	T	-5.09	0.82961	D	0.136	0.13341	-0.8950	0.48483	T	0.001	0.00188	T	10	0.13892508	0.26417	T	0.003524	0.08000	T	0.044	0.11924	0.267	0.21418	0.364730456448	0.36084	0.18004589224776965	0.17923	0.0164091480583	0.01580	0.290584146976	0.09008	T	0.009713	0.08828	T	-0.239021	0.15473	T	-0.581114	0.14445	T	0.293526584957257	0.24737	T	0.105889	0.00791	T	0.283052	0.51339	0.1712786	0.39298	0.283052	0.51339	0.1712786	0.39298	-4.553	0.31576	T	.	.	0.129	0.27583	B	.	.	2.574577	0.33367	19.32	0.969593833023215	0.31771	0.05759	0.11689	N	AEFI	0.049500	0.08558	N	-0.629492549425505	0.18062	0.93473	-0.707290853931788	0.16779	0.8892278	1.09544990210865E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	0.053	0.13617	-0.263000	0.08695	.	.	0.571000	0.28931	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4972:0.1087:0.0:0.3941	3.562	0.07439	161	0.93754	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	1438.33	35	chr11	56159737	.	T	G	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.525;SOR=0.7	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1452,0,1774	18	0	1	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|1:216,55:271:99:0|1:56375918_A_G:1659,0,8904:56375918	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|1:216,55:271:99:0|1:56375918_A_G:1659,0,8904:56375918	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|1:216,55:271:99:0|1:56375918_A_G:1659,0,8904:56375918	2	0	16	1
chr11	59151775	59151775	G	A	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.G107A:p.C36Y,FAM111A:NM_001374867:exon3:c.G107A:p.C36Y,FAM111A:NM_001374868:exon3:c.G107A:p.C36Y,FAM111A:NM_001312911:exon4:c.G107A:p.C36Y,FAM111A:NM_001374850:exon4:c.G107A:p.C36Y,FAM111A:NM_001374855:exon4:c.G107A:p.C36Y,FAM111A:NM_001374856:exon4:c.G107A:p.C36Y,FAM111A:NM_001374859:exon4:c.G107A:p.C36Y,FAM111A:NM_001374862:exon4:c.G107A:p.C36Y,FAM111A:NM_001374863:exon4:c.G107A:p.C36Y,FAM111A:NM_001374865:exon4:c.G107A:p.C36Y,FAM111A:NM_001374866:exon4:c.G107A:p.C36Y,FAM111A:NM_001374869:exon4:c.G107A:p.C36Y,FAM111A:NM_001374870:exon4:c.G107A:p.C36Y,FAM111A:NM_022074:exon4:c.G107A:p.C36Y,FAM111A:NM_198847:exon4:c.G107A:p.C36Y,FAM111A:NM_001142519:exon5:c.G107A:p.C36Y,FAM111A:NM_001142520:exon5:c.G107A:p.C36Y,FAM111A:NM_001142521:exon5:c.G107A:p.C36Y,FAM111A:NM_001312910:exon5:c.G107A:p.C36Y,FAM111A:NM_001374804:exon5:c.G107A:p.C36Y,FAM111A:NM_001374858:exon5:c.G107A:p.C36Y,FAM111A:NM_001374860:exon5:c.G107A:p.C36Y,FAM111A:NM_001374861:exon5:c.G107A:p.C36Y,FAM111A:NM_001374864:exon5:c.G107A:p.C36Y,FAM111A:NM_001312909:exon6:c.G107A:p.C36Y,FAM111A:NM_001374848:exon6:c.G107A:p.C36Y,FAM111A:NM_001374849:exon6:c.G107A:p.C36Y,FAM111A:NM_001374851:exon6:c.G107A:p.C36Y,FAM111A:NM_001374852:exon6:c.G107A:p.C36Y,FAM111A:NM_001374853:exon6:c.G107A:p.C36Y,FAM111A:NM_001374854:exon6:c.G107A:p.C36Y,FAM111A:NM_001374857:exon7:c.G107A:p.C36Y	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	428	1072	22	0	0	22	0.010157	.	.	.	752706	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	.	0.0004	0.00179712	0.0029	0	0.0005	0	0	0.0008	0.0034	0.0188	0.0023803	368	154602	rs143326650	0.0013	0.0013	0.0008	0.0018	0.0167	0.0012	0.0012	0.0160	0.0157	6.281e-05	0.0002	0.0016	2.524e-05	0	0.0060	0.0002	0.0013	0.0167	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0096	0.0087	7.219e-05	0	0.0003	0.0020	0	0	0	0.0003	0.0014	0.0120	0.022	0.49117	D	0.045	0.49390	D	0.002	0.09854	B	0.001	0.04355	B	0.825835	0.09144	N	0.912601	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-1.76	0.50337	N	0.063	0.03502	-1.0209	0.23421	T	0.058	0.24502	T	10	0.00320369	0.00054	T	.	.	.	0.040	0.10527	.	.	0.132336055621	0.12781	0.12562148334257048	0.12488	0.0254931719734	0.02608	0.276431590319	0.07000	T	0.016882	0.30042	T	-0.606615	0.00133	T	-0.630511	0.10376	T	0.00571938942511619	0.00062	T	0.318368	0.08641	T	0.06359537	0.13407	0.08472309	0.19511	0.050478965	0.09124	0.07409121	0.16172	-4.687	0.33246	T	.	.	0.097	0.23986	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.443511	0.02056	0.188	0.37765248010604441	0.02508	0.05936	0.11892	N	AEFGBCI	0.049157	0.08465	N	-1.29738466777112	0.03707	0.1660839	-1.30135598189309	0.04413	0.2080986	0.999917344028308	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.23	0.20358	-0.065000	0.11575	-1.757000	0.04782	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4461:0.3587:0.1952	4.960	0.13412	617	0.66297	.;.;.;.;.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.001359	0.005848	0.000000	0.000000	0.012195	0.026515	0.02632	664.33	24	chr11	59151775	.	G	A	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.781;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,26:48:99:678,0,585	18	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,32:85:99:.:.:314,0,777:.	2	0	17	0
chr11	62690476	62690476	A	G	exonic	BSCL2	.	nonsynonymous SNV	BSCL2:NM_001122955:exon11:c.T1280C:p.L427P,BSCL2:NM_032667:exon11:c.T1088C:p.L363P	Encephalopathy, progressive, with or without lipodystrophy, Autosomal recessive;Lipodystrophy, congenital generalized, type 2, Autosomal recessive;Neuropathy, distal hereditary motor, type VA, Autosomal dominant;Silver spastic paraplegia syndrome, Autosomal dominant	1	1499	21	1	0	23	0.00761337	.	.	.	133981	Charcot-Marie-Tooth_disease_type_2|Congenital_generalized_lipodystrophy_type_2|Neuronopathy,_distal_hereditary_motor,_type_5A|Monogenic_diabetes|not_specified|Hereditary_spastic_paraplegia_17|Neuronopathy,_distal_hereditary_motor,_type_5C|Severe_neurodegenerative_syndrome_with_lipodystrophy|Inborn_genetic_diseases|not_provided|Hereditary_spastic_paraplegia	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998|MONDO:MONDO:0030860,MedGen:C5436838,OMIM:619112|MONDO:MONDO:0014402,MedGen:C4014700,OMIM:615924,Orphanet:363400|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.257	0.0824792108038	0.0026	0.000798722	0.0039	0.0003	0.0036	0	0.0014	0.0060	0.0022	0.0013	0.0036934	571	154602	rs145649423	0.0030	0.0030	0.0029	0.0031	0.0094	0.0029	0.0028	0.0074	0.0067	0.0005	0.0037	0.0060	0	0.0013	0.0094	0.0031	0.0033	0.0019	0.0030	0.0030	0.0032	0.0027	0.0045	0.0027	0.0027	0.0041	0.0040	0.0006	0.0011	0.0043	0.0078	0	0.0007	0.0170	0.0045	0.0043	0.0006	0.092	0.31682	T	0.091	0.42086	T	0.001	0.07471	B	0.002	0.06944	B	0.780725	0.09473	N	0.816770	0.997674	0.81001	D	2.095	0.58118	M	-2.89	0.91643	D	-5.21	0.83763	D	0.304	0.34767	-0.4494	0.70420	T	0.561	0.84003	D	10	0.006423205	0.00145	T	0.082479	0.73910	D	0.257	0.56827	.	.	0.844229198692	0.84273	0.24859598106681063	0.24773	.	.	0.541142106056	0.44606	T	0.152887	0.49348	T	-0.278744	0.10801	T	-0.172082	0.57253	T	0.0417579805946623	0.04011	T	0.587441	0.21491	T	0.07683957	0.17404	0.13074574	0.31409	0.11761312	0.27725	0.17274931	0.39551	-2.41	0.05263	T	.	.	0.257	0.49137	B	.;.;.;.;.;.	.;.;.;.;.;.	2.485756	0.32060	18.93	0.94628039898708471	0.25212	0.65429	0.32735	D	AEFDGBI	0.339319	0.43650	N	-0.620712175288854	0.18322	0.9503485	-0.533491989807744	0.21246	1.148425	0.999986102997834	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	0.276	0.14916	1.399000	0.34175	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.5856:0.0:0.4144:0.0	7.493	0.26640	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.000000	0.008152	0.002941	0.000000	0.000000	0.018293	0.000000	0.02632	843.33	33	chr11	62690476	.	A	G	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=712;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-2.243;SOR=0.918	GT:AD:DP:GQ:PL	0/1:35,37:72:99:857,0,726	18	0	1	0
chr11	64227038	64227038	C	G	exonic	NUDT22	.	nonsynonymous SNV	NUDT22:NM_001128612:exon2:c.C386G:p.T129R,NUDT22:NM_001128613:exon2:c.C386G:p.T129R,NUDT22:NM_001271831:exon2:c.C386G:p.T129R,NUDT22:NM_032344:exon2:c.C386G:p.T129R	.	429	1055	36	2	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	.	.	0.00399361	0.0089	0.0031	0.0050	0.0006	0.0008	0.0107	0.0249	0.0129	0.0070439	1089	154602	rs34448455	0.0097	0.0097	0.0094	0.0100	0.0248	0.0096	0.0095	0.0215	0.0202	0.0017	0.0057	0.0146	0.0001	0.0005	0.0248	0.0103	0.0110	0.0135	0.0066	0.0066	0.0070	0.0061	0.0147	0.0063	0.0061	0.0119	0.0109	0.0020	0.0132	0.0069	0.0150	0	0.0004	0.0102	0.0097	0.0057	0.0147	0.002	0.72154	D	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000055	0.53742	D	0.163089	0.999447	0.47080	D	2.885	0.83555	M	1.0	0.41392	T	-5.5	0.86836	D	0.926	0.94786	-0.6944	0.60703	T	0.222	0.58575	T	10	0.008678138	0.00197	T	.	.	.	0.438	0.74235	.	.	0.667668966213	0.66487	0.9841077304721016	0.98403	1.30046479418	0.83003	0.501046955585	0.38974	T	0.419126	0.80760	T	-0.0873057	0.38519	T	0.112846	0.77763	D	0.0723071513883433	0.08971	T	0.852015	0.53747	D	0.9507656	0.96343	0.6232096	0.78044	0.9507656	0.96344	0.6232096	0.78045	-10.58	0.84207	D	.	.	0.869	0.81236	P	.;.;.	.;.;.	4.089049	0.60890	24.3	0.98985630261292257	0.49821	0.86382	0.45651	D	ALL	0.622369	0.60672	D	0.384292774242042	0.60572	4.247432	0.236070456462524	0.51860	3.365079	0.999999999954304	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.55	3.63	0.40741	2.838000	0.47900	7.627000	0.62562	0.549000	0.26987	0.964000	0.33853	1.000000	0.68203	0.008000	0.08271	0.0:0.745:0.1645:0.0905	7.782	0.28237	658	0.62094	.;NUDIX hydrolase 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	0.015720	0.010638	0.017663	0.020588	0.000000	0.017241	0.012270	0.007576	0.02632	1370.33	34	chr11	64227038	.	C	G	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.45;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.349;SOR=0.735	GT:AD:DP:GQ:PL	0/1:60,57:117:99:1384,0,1411	18	0	1	0
chr11	64234004	64234004	C	T	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon5:c.C641T:p.S214F,DNAJC4:NM_001307981:exon5:c.C638T:p.S213F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00529735594086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997000777	8.894e-06	8.893e-06	1.089e-05	6.876e-06	2.987e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	2.987e-05	0	0	0	0	0	1.079e-05	0	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.053	0.38863	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.66	0.27486	T	-0.86	0.23372	N	0.184	0.19995	-1.0654	0.10456	T	0.041	0.17573	T	7	0.1041733	0.19191	T	0.005297	0.13556	T	0.018	0.03083	0.32	0.29902	0.282179105231	0.27821	0.1752167485083835	0.17440	.	.	.	.	.	.	.	.	-0.355034	0.04419	T	-0.684112	0.06736	T	0.0918525010347366	0.11436	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.	.	0.749879	0.11194	7.830	0.9701908193842762	0.32018	0.04433	0.10030	N	AEFDGBCI	0.111654	0.22098	N	-0.617227058765391	0.18426	0.9565704	-0.690488409626448	0.17198	0.9133758	0.999998404839761	0.74766	0.72623	0.87236	0	0.685571	0.66316	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.13	3.19	0.35720	0.585000	0.23580	-0.778000	0.07467	0.513000	0.23382	0.002000	0.15269	0.000000	0.08366	0.051000	0.15275	0.0:0.7892:0.2108:0.0	9.777	0.39794	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2361.33	45	chr11	64234004	.	C	T	2361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.414;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.632;SOR=0.713	GT:AD:DP:GQ:PL	0/1:102,101:203:99:2375,0,2464	18	0	1	0
chr11	64607816	64607816	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138734:exon7:c.C1381T:p.P461S,NRXN2:NM_138732:exon20:c.C4309T:p.P1437S,NRXN2:NM_015080:exon23:c.C4519T:p.P1507S	.	.	.	.	.	.	.	.	.	.	.	429250	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0906111056729	.	.	0.0002	0	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs749398433	6.415e-05	6.567e-05	6.988e-05	5.834e-05	7.77e-05	5.339e-05	4.952e-05	6.439e-05	5.937e-05	0	0	0	0	1.933e-05	0	7.77e-05	8.356e-05	1.192e-05	2.63e-05	2.627e-05	2.571e-05	2.692e-05	5.884e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.021	0.49117	D	0.004	0.74150	D	0.97	0.77913	D	0.904	0.84481	P	.	.	.	.	0.995657	0.42792	D	1.15	0.29295	L	0.48	0.63738	T	-2.8	0.59226	D	0.194	0.46368	-0.7482	0.58029	T	0.257	0.62800	T	9	0.15944955	0.29958	T	0.090611	0.75550	D	0.194	0.47447	.	.	0.228066490088	0.22430	0.2563555045427475	0.25549	1.0531444316	0.76231	0.752923667431	0.74878	T	0.52119	0.83259	D	-0.175086	0.24470	T	-0.263573	0.48467	T	0.28318240805359	0.24305	T	0.882812	0.63671	D	0.10534921	0.24909	0.14770517	0.34944	0.10534921	0.24908	0.14770517	0.34943	-4.072	0.24876	T	.	.	0.424	0.68966	A	.;.;.;.;.	.;.;.;.;.	3.979847	0.58499	24.0	0.99797911694492769	0.88283	0.97862	0.77688	D	AEFDBI	0.874022	0.79669	D	0.159420807026322	0.49259	3.128278	0.193125887554184	0.49470	3.149731	0.999954618243469	0.48110	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	3.9	3.9	0.44240	7.009000	0.76094	11.319000	0.92524	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	13.739	0.62316	449	0.79428	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2276.33	38	chr11	64607816	.	G	A	2276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=890;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.822;SOR=0.791	GT:AD:DP:GQ:PL	0/1:117,97:214:99:2290,0,2726	18	0	1	0
chr11	67310103	67310103	G	A	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon13:c.G1447A:p.V483I	.	430	1087	4	1	0	6	0.00275229	.	.	.	3327050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00413310659255	7.7e-05	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs141784426	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.987e-05	0	0.0077	0	1.879e-05	0.0021	6.026e-05	0.0005	0.0001	0.0002	0.0002	0.0003	6.723e-05	8.817e-05	0.0001	9.699e-05	3.761e-05	2.574e-05	0	0	0	0.0055	0	0	0	8.817e-05	0	0	0.121	0.27783	T	0.254	0.23433	T	0.094	0.25382	B	0.037	0.29098	B	0.932518	0.08411	N	0.957020	0.999994	0.58761	D	1.24	0.30952	L	3.84	0.03675	T	-0.15	0.09297	N	0.109	0.10056	-1.0179	0.24398	T	0.024	0.10103	T	10	0.005006939	0.00108	T	0.004133	0.09900	T	0.037	0.09474	.	.	0.225215365344	0.22153	0.11967506803510722	0.11894	0.161591931189	0.18238	0.36813557148	0.20564	T	0.077477	0.35664	T	-0.421093	0.01683	T	-0.639994	0.09669	T	0.00998661681599739	0.00133	T	0.726327	0.34071	T	0.027758382	0.02013	0.03655411	0.03125	0.027758382	0.02012	0.03655411	0.03125	-5.106	0.37971	T	.	.	0.074	0.05145	B	.;.	.;.	1.738505	0.22124	15.49	0.96947949019486857	0.31723	0.36469	0.25540	N	AEFDGBI	0.053343	0.09602	N	-0.491643904516495	0.22354	1.193031	-0.369716150433861	0.25905	1.427521	0.999886903953961	0.44867	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.65	1.51	0.22094	0.446000	0.21410	1.911000	0.29646	0.676000	0.76740	0.003000	0.16062	0.991000	0.31484	0.714000	0.34579	0.2101:0.0:0.5943:0.1957	3.638	0.07695	397	0.82902	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	849.33	37	chr11	67310103	.	G	A	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=727;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.59;SOR=0.907	GT:AD:DP:GQ:PL	0/1:43,34:77:99:863,0,1105	18	0	1	0
chr11	67424407	67424407	G	A	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon9:c.G2290A:p.D764N,CARNS1:NM_001166222:exon10:c.G2659A:p.D887N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0663057676517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-06	8.209e-06	2.761e-06	1.121e-05	5.206e-05	3.52e-06	2.56e-06	8.62e-06	3.23e-06	3.035e-05	0	0	5.206e-05	0	0	4.543e-06	1.682e-05	1.197e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.028	0.49613	D	0.106	0.38596	T	0.824	0.45836	P	0.158	0.34617	B	0.049275	0.23176	N	0.373374	0.992752	0.41734	D	0.805	0.20218	L	1.18	0.37746	T	-1.39	0.34795	N	0.323	0.36359	-1.0864	0.06155	T	0.069	0.28379	T	10	0.14870235	0.28156	T	0.066306	0.69835	D	0.114	0.32008	0.383	0.40134	0.42324137094	0.41940	0.49443479446855004	0.49364	0.247428932849	0.27293	0.659347712994	0.61315	T	0.004	0.03611	T	-0.277717	0.10912	T	-0.636697	0.09913	T	0.755352258682251	0.43587	D	0.823018	0.48339	T	0.10061808	0.23759	0.09693813	0.23053	0.10061808	0.23759	0.09693813	0.23052	-5.569	0.43075	T	.	.	0.100	0.20352	B	.;.;.	.;.;.	3.061769	0.41119	21.3	0.99836622289926624	0.91800	0.46888	0.27860	N	AEFDBHCI	0.267796	0.38442	N	-0.0303888182562756	0.40483	2.404893	0.0130036934808954	0.40318	2.404217	0.999999999608032	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.41	5.41	0.78313	2.336000	0.43597	11.845000	0.97913	0.663000	0.56723	0.069000	0.22043	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	17.954	0.88982	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	.	.	.	.	.	.	.	.	0.02632	694.33	33	chr11	67424407	.	G	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=718;ExcessHet=0;FS=2.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.196;SOR=0.425	GT:AD:DP:GQ:PL	0/1:28,25:53:99:708,0,806	18	0	1	0
chr11	71582521	71582521	C	T	exonic	KRTAP5-11	.	nonsynonymous SNV	KRTAP5-11:NM_001005405:exon1:c.G317A:p.C106Y	.	424	1092	6	0	0	6	0.00273973	.	.	.	2813495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.000886902563917	0.0022	0.00139776	0.0021	0.0006	0.0014	0	0.0008	0.0030	0.0044	0.0012	0.0004851	75	154602	rs150290638	0.0027	0.0027	0.0027	0.0027	0.0096	0.0026	0.0026	0.0075	0.0068	0.0005	0.0016	0.0020	0	0.0013	0.0096	0.0031	0.0030	0.0011	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0029	0.0028	0.0005	0.0439	0.0022	0.0029	0	0.0008	0	0.0033	0.0043	0.0008	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	4.46	0.98852	H	3.83	0.03702	T	-9.83	0.98692	D	0.238	0.26837	-1.1265	0.01957	T	0.039	0.16634	T	9	0.0046595335	0.00098	T	8.87E-4	0.00822	T	0.099	0.28413	.	.	0.163833314356	0.15978	0.0175451517103914	0.01709	0.0105696703633	0.00974	.	.	.	0.166878	0.51329	T	-0.480772	0.00732	T	-0.466108	0.25935	T	0.141316143761438	0.16388	T	0.675932	0.28448	T	0.83102155	0.85974	0.74277425	0.84796	0.83102155	0.85975	0.74277425	0.84796	-9.371	0.70054	D	.	.	0.164	0.38444	B	.;.	.;.	1.512733	0.19433	14.26	0.80848311762995884	0.13398	0.16027	0.19196	N	AEFDBI	0.066544	0.13037	N	0.274365017922304	0.54851	3.649992	0.0173299184700063	0.40519	2.419517	0.687380783175555	0.22549	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	2.06	2.06	0.25932	0.096000	0.14986	.	.	0.481000	0.22134	0.001000	0.13787	0.653000	0.25975	0.563000	0.30483	0.0:1.0:0.0:0.0	10.187	0.42182	454	0.79125	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006363	0.000000	0.005435	0.004098	0.000000	0.008621	0.009202	0.007576	0.02632	2649.33	35	chr11	71582521	.	C	T	2649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.094;DP=826;ExcessHet=0;FS=5.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.335;SOR=1.067	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2663,0,2433	18	0	1	0
chr11	72231185	72231185	G	A	exonic	INPPL1	.	nonsynonymous SNV	INPPL1:NM_001567:exon12:c.G1493A:p.R498H	Opsismodysplasia, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	.	1385487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.496	0.060888426515	.	.	6.066e-05	0	8.784e-05	0.0001	0	7.847e-05	0	0	4.53e-05	7	154602	rs770428487	3.567e-05	3.557e-05	3.686e-05	3.448e-05	0.0001	2.77e-05	2.508e-05	4.907e-05	3.165e-05	0	4.49e-05	0	0.0001	0	0	3.87e-05	0	2.324e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.153	0.24372	T	0.013	0.63109	D	0.994	0.66517	D	0.829	0.59562	P	0.000033	0.55875	D	0.123775	0.994889	0.42456	D	0.89	0.21648	L	-1.4	0.80474	T	-2.44	0.53420	N	0.543	0.59478	-0.1662	0.78520	T	0.438	0.77739	T	10	0.47274908	0.59961	T	0.060888	0.68149	D	0.496	0.78100	0.641	0.77795	0.64185220107	0.63889	0.5016137311315139	0.50083	1.87614662658	0.92565	0.619391798973	0.55643	T	0.584294	0.86435	D	-0.125169	0.32280	T	-0.148273	0.59397	T	0.248966146068366	0.22827	T	0.968003	0.88371	D	0.50964785	0.67659	0.37591457	0.62724	0.50964785	0.67660	0.37591457	0.62724	-8.64	0.69082	D	.	.	0.134	0.29060	B	.;.;.	.;.;.	4.867362	0.79709	27.2	0.99944130915381069	0.99868	0.90212	0.51212	D	AEFDGBCI	0.524506	0.54766	D	0.560027501425576	0.70694	5.539415	0.634383525324564	0.77455	6.682222	0.999999992150314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	5.81	0.92413	4.178000	0.58079	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1422:0.8578:0.0	15.092	0.71871	802	0.44336	Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	906.33	49	chr11	72231185	.	G	A	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.512;DP=743;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.992;SOR=0.986	GT:AD:DP:GQ:PL	0/1:32,35:67:99:920,0,926	18	0	1	0
chr11	74852004	74852004	C	T	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378167:exon6:c.G94A:p.V32M,XRRA1:NM_001378168:exon6:c.G400A:p.V134M,XRRA1:NM_001378176:exon8:c.G94A:p.V32M,XRRA1:NM_001378166:exon9:c.G94A:p.V32M,XRRA1:NM_001378175:exon9:c.G94A:p.V32M,XRRA1:NM_001270381:exon10:c.G400A:p.V134M,XRRA1:NM_001378165:exon10:c.G94A:p.V32M,XRRA1:NM_001378174:exon10:c.G94A:p.V32M,XRRA1:NM_001378157:exon13:c.G1249A:p.V417M,XRRA1:NM_182969:exon13:c.G1225A:p.V409M	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0008	0.00339457	0.0066	0.0003	0.0015	0	0.0709	0.0044	0.0179	0.0001	0.0054851	848	154602	rs148055073	0.0035	0.0035	0.0037	0.0034	0.0013	0.0034	0.0034	0.0011	0.0011	0.0002	0.0013	0.0007	0	0.0661	0.0002	0.0012	0.0036	0.0002	0.0062	0.0062	0.0038	0.0088	0.0022	0.0059	0.0057	0.0019	0.0018	0.0002	0	0.0009	0	0.0002	0.0724	0	0.0022	0.0038	0	0.036	0.56456	D	0.012	0.63918	D	0.998	0.73220	D	0.921	0.65636	D	.	.	.	.	1	0.81001	D	1.935	0.51832	L	1.82	0.36512	T	-1.27	0.37375	N	0.609	0.62611	-0.8684	0.50650	T	0.104	0.38267	T	9	0.00514549	0.00112	T	.	.	.	0.119	0.33137	.	.	0.505885190548	0.50227	0.40915233416417657	0.40831	0.308722435174	0.33184	0.537046790123	0.44029	T	0.001812	0.01233	T	-0.383151	0.02976	T	-0.321918	0.42365	T	0.0297145577934278	0.01945	T	0.865813	0.56549	D	0.09452564	0.22226	0.16467972	0.38136	0.09452564	0.22226	0.16467972	0.38135	-9.401	0.70241	D	.	.	0.612	0.75033	P	.;.	.;.	4.829482	0.78746	27.0	0.99871413057128655	0.94902	0.87135	0.46584	D	AEFBI	0.149345	0.27343	N	0.583172523806537	0.72125	5.756716	0.570477233604031	0.72833	5.87253	0.999955313182542	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	6.07	5.16	0.70563	3.599000	0.53795	7.601000	0.61564	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.916:0.0:0.084	11.091	0.47335	657	0.62240	.;.	.	.	.	.	rs148055073	Uncertain significance	0	0	0	0	0	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	34	chr11	74852004	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.638;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.454;SOR=0.667	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1452,0,1462	18	0	1	0
chr11	93370164	93370164	C	T	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.C524T:p.S175F	.	452	1047	20	3	0	26	0.0122642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0072	0.00339457	0.0102	0.0026	0.0103	0	0.0030	0.0116	0.0241	0.0167	0.0066881	1034	154602	rs34205920	0.0088	0.0090	0.0085	0.0090	0.0153	0.0086	0.0086	0.0146	0.0144	0.0012	0.0063	0.0171	0	0.0021	0.0065	0.0090	0.0093	0.0153	0.0066	0.0066	0.0070	0.0061	0.0143	0.0062	0.0061	0.0116	0.0106	0.0017	0.0461	0.0076	0.0164	0.0002	0.0019	0.0136	0.0089	0.0071	0.0143	0.005	0.78490	D	0.012	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000059	0.53742	D	0.081678	0.987964	0.40680	D	2.125	0.59049	M	1.94	0.22678	T	-2.91	0.62518	D	0.416	0.45615	-1.0156	0.25143	T	0.097	0.36496	T	10	0.008488923	0.00192	T	.	.	.	0.183	0.45592	.	.	0.643164361049	0.64021	0.39280954524381106	0.39195	0.17326477445	0.19515	0.562373280525	0.47602	T	0.162927	0.50778	T	-0.302329	0.08441	T	-0.195375	0.55084	T	0.0177573481128435	0.00505	T	0.913309	0.70392	D	0.55491143	0.70229	0.58325815	0.75838	0.55491143	0.70230	0.58325815	0.75839	-7.158	0.55179	T	.	.	0.243	0.53891	B	.;.;.;.	.;.;.;.	4.526798	0.71028	25.6	0.9979570481708312	0.88106	0.92133	0.55018	D	AEFDBI	0.520851	0.54554	D	0.66466072990148	0.77321	6.652248	0.655063634552734	0.78989	6.98842	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	3.471000	0.52871	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	C11orf54	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	0.009586	0.000000	0.006793	0.002924	0.050000	0.017241	0.015337	0.011364	0.05263	2430.83	35	chr11	93370164	.	C	T	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=836;ExcessHet=0.119;FS=4.399;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.219;SOR=0.974	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1495,0,1613	17	0	2	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi 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	.	.	.	.	.	.	.	.	0.05882	169.46	70	chr11	94618061	.	G	C	169.46	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.673;DP=1053;ExcessHet=0.119;FS=168.354;InbreedingCoeff=-0.0888;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.454;SOR=8.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,26:70:99:.:.:173,0,559:.	15	0	2	2
chr11	100340496	100340496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon19:c.A2542G:p.T848A,CNTN5:NM_001243270:exon21:c.A2764G:p.T922A,CNTN5:NM_014361:exon22:c.A2764G:p.T922A	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0171525867503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001028	0.40562	N	0.240162	0.999915	0.19599	N	-0.045	0.04980	N	0.51	0.55439	T	-0.04	0.07590	N	0.148	0.18649	-1.0533	0.13493	T	0.071	0.28773	T	9	0.029596865	0.01086	T	0.017153	0.38730	T	0.024	0.04979	0.368	0.37687	0.221734844693	0.21761	0.12061430766964269	0.11988	0.0345670809689	0.03633	0.288050234318	0.08639	T	0.053933	0.29583	T	-0.246272	0.14559	T	-0.591529	0.13534	T	0.0425632306888298	0.04158	T	0.365963	0.08520	T	0.07037337	0.15496	0.036107402	0.02992	0.07037337	0.15496	0.036107402	0.02991	-4.789	0.34638	T	.	.	0.128	0.28377	B	.;.;.;.;.	.;.;.;.;.	0.862309	0.12349	8.886	0.37680956223303053	0.02497	0.10892	0.16265	N	AEFDGBI	0.055450	0.10170	N	-1.31738449363233	0.03476	0.1553445	-1.17870530405957	0.06267	0.3011079	0.0111706413931932	0.12141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	0.814	0.17897	1.323000	0.33307	0.802000	0.21668	-1.080000	0.01570	1.000000	0.71638	0.993000	0.31925	0.964000	0.52637	0.1476:0.0:0.5828:0.2696	5.854	0.17960	916	0.20744	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;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	.	.	.	.	.	.	.	.	0.02632	1360.33	34	chr11	100340496	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=734;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.589;SOR=0.664	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1374,0,1088	18	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	T	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	0/1:114,22:154:27:.:.:138,0,3393:.	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	0/1:114,42:156:99:.:.:321,0,3386:.	1	0	10	8
chr11	110264171	110264171	G	C	exonic	RDX	.	nonsynonymous SNV	RDX:NM_001260496:exon4:c.C160G:p.P54A,RDX:NM_001260492:exon5:c.C256G:p.P86A,RDX:NM_001260493:exon5:c.C256G:p.P86A,RDX:NM_002906:exon5:c.C256G:p.P86A	Deafness, autosomal recessive 24, Autosomal recessive	51	1470	1	0	0	1	0.00034002	.	.	.	229961	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.802	0.108871894401	7.7e-05	.	0.0002	0	0	0	0	1.531e-05	0.0056	0.0008	0.0001229	19	154602	rs376418131	7.814e-05	7.798e-05	6.549e-05	9.091e-05	0.0008	6.613e-05	6.154e-05	0.0006	0.0006	0	0	0	2.521e-05	1.872e-05	0.0002	2.524e-05	0.0002	0.0008	5.914e-05	5.91e-05	5.14e-05	6.724e-05	0.0008	3.078e-05	2.21e-05	0.0003	0.0002	2.413e-05	0	0	0	0	9.422e-05	0	4.41e-05	0	0.0008	0.014	0.55530	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.25	0.89816	M	-1.28	0.79376	T	-7.84	0.96269	D	0.79	0.81261	0.611	0.92038	D	0.723	0.90503	D	10	0.83531547	0.82688	D	0.108872	0.78560	D	0.802	0.93543	.	.	0.767897934036	0.76577	0.5342141351240893	0.53346	0.675510407272	0.59710	0.793737351894	0.81010	T	0.805994	0.95101	D	0.121261	0.66497	D	0.300569	0.88223	D	0.766444027423859	0.44228	D	0.977102	0.91996	D	0.62857896	0.74223	0.72670054	0.83856	0.62857896	0.74224	0.72670054	0.83857	-9.619	0.71784	D	.	.	0.894	0.90447	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.104063	0.85296	28.6	0.99474566239293039	0.66525	0.99329	0.94577	D	AEFGBI	0.892836	0.83018	D	0.951893746842575	0.94060	12.47273	0.892350233696143	0.95230	13.42897	0.999999994156317	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.634	0.91327	770	0.49152	.;.;.;.;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 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	1284.33	36	chr11	110264171	.	G	C	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.539;DP=777;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=1.94;SOR=0.931	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1298,0,1240	18	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D,BCO2:NM_001256400:exon9:c.G1070A:p.G357D,BCO2:NM_001037290:exon10:c.G1283A:p.G428D,BCO2:NM_001256397:exon10:c.G1283A:p.G428D,BCO2:NM_031938:exon10:c.G1385A:p.G462D	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	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	0.008560	0.000000	0.006793	0.000000	0.000000	0.008621	0.018293	0.022727	0.02632	1815.33	34	chr11	112214814	.	G	A	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=786;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.267;SOR=0.886	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1829,0,1900	18	0	1	0
chr11	117482090	117482090	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon12:c.C2432T:p.T811M,DSCAML1:NM_020693:exon12:c.C2432T:p.T811M	.	415	1106	1	0	0	1	0.000451875	.	.	.	1963597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.355	0.0481225642495	.	.	8.26e-06	0	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs758143629	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0009	1.932e-05	1.692e-05	0.0003	0.0002	2.987e-05	8.945e-05	0	2.519e-05	0	0.0009	1.529e-05	0	0.0001	2.628e-05	2.627e-05	2.569e-05	2.689e-05	7.237e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	1.47e-05	0	0	0.046	0.40832	D	0.011	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	-0.41	0.69413	T	-2.57	0.56630	D	0.475	0.51048	-0.4629	0.69971	T	0.310	0.68021	T	9	0.4286144	0.57341	T	0.048123	0.63233	D	0.355	0.67600	.	.	0.704990554045	0.70242	0.5745498944271185	0.57383	1.20088527153	0.80543	0.666771650314	0.62378	T	.	.	.	-0.125594	0.32210	T	-0.236655	0.51124	T	0.920189023017883	0.57924	D	0.816118	0.47137	T	.	.	.	.	.	.	.	.	-8.753	0.66093	D	.	.	0.121	0.25067	B	.;.	.;.	4.163198	0.62537	24.5	0.99698788822086404	0.80453	0.96298	0.68457	D	AEFDBI	0.814217	0.73649	D	0.164449566554654	0.49499	3.149523	0.111854426672612	0.45154	2.783653	0.998789138771609	0.37667	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.89	2.98	0.33575	5.884000	0.69473	9.806000	0.81721	-0.170000	0.11276	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0872:0.0:0.9128:0.0	11.701	0.50835	880	0.29376	.;.	.	.	.	.	.	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	2973.33	33	chr11	117482090	.	G	A	2973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=863;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.09;SOR=0.763	GT:AD:DP:GQ:PL	0/1:109,123:232:99:2987,0,2446	18	0	1	0
chr11	118627874	118627874	C	T	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144758:exon6:c.C1051T:p.R351W,PHLDB1:NM_001144759:exon6:c.C1051T:p.R351W,PHLDB1:NM_015157:exon7:c.C1051T:p.R351W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0125664424967	.	0.000199681	0.0004	0	0	0	0	1.554e-05	0	0.0031	0.0003428	53	154602	rs551936081	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	8.963e-05	0	0	0.0002	0	0.0005	9.893e-06	0.0001	0.0037	8.532e-05	8.529e-05	6.422e-05	0.0001	0.0017	4.952e-05	3.958e-05	0.0008	0.0006	7.212e-05	0	0	0	0	0	0	2.94e-05	0	0.0017	0.001	0.78490	D	0.182	0.29249	T	0.997	0.70673	D	0.803	0.58300	P	0.994059	0.08011	N	0.997116	0.673986	0.33170	D	0.205	0.09354	N	1.37	0.34253	T	-1.2	0.31576	N	0.371	0.44283	-1.0596	0.11855	T	0.131	0.44088	T	10	0.013538659	0.00287	T	0.012566	0.31260	T	0.140	0.37593	0.397	0.42426	0.174091166621	0.17034	0.3943218389354682	0.39347	0.237689050953	0.26313	0.635193347931	0.57882	T	0.022375	0.17263	T	-0.389204	0.02723	T	-0.334262	0.40992	T	0.120908959239785	0.14519	T	0.910909	0.68443	D	0.05847974	0.11770	0.08123683	0.18445	0.05847974	0.11769	0.08123683	0.18445	-9.515	0.71226	D	.	.	0.090	0.12512	B	.;.;.	.;.;.	4.432246	0.68737	25.3	0.99902081229877882	0.97350	0.89698	0.50330	D	AEFDBI	0.611340	0.59983	D	-0.019305027149086	0.40981	2.443305	0.0376572576924977	0.41479	2.492659	0.996120701158385	0.34540	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	3.25	0.36363	0.574000	0.23416	1.403000	0.26213	0.596000	0.33519	0.953000	0.33222	1.000000	0.68203	0.999000	0.91618	0.1605:0.7553:0.0:0.0842	7.778	0.28210	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1000.33	33	chr11	118627874	.	C	T	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-1.147;SOR=0.613	GT:AD:DP:GQ:PL	0/1:30,36:66:99:1014,0,800	18	0	1	0
chr11	119081604	119081604	A	C	exonic	VPS11	.	nonsynonymous SNV	VPS11:NM_001290185:exon16:c.A2777C:p.H926P,VPS11:NM_001378218:exon16:c.A2819C:p.H940P,VPS11:NM_001378219:exon16:c.A2819C:p.H940P,VPS11:NM_001378220:exon16:c.A2792C:p.H931P,VPS11:NM_001378221:exon16:c.A2789C:p.H930P,VPS11:NM_021729:exon16:c.A2807C:p.H936P	Leukodystrophy, hypomyelinating, 12, Autosomal recessive	421	1096	5	0	0	5	0.00227583	.	.	.	1577052	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	0.147465154303	0.0014	0.000199681	0.0008	0.0001	0.0005	0	0.0002	0.0012	0.0023	0.0004	0.0007309	113	154602	rs199817725	0.0008	0.0008	0.0008	0.0008	0.0028	0.0008	0.0008	0.0017	0.0014	0.0001	0.0006	0.0019	0	0.0007	0.0028	0.0009	0.0009	0.0004	0.0008	0.0008	0.0007	0.0010	0.0014	0.0007	0.0007	0.0010	0.0008	0.0001	0.0296	0.0014	0.0017	0	0	0	0.0009	0.0010	0.0002	.	.	.	0.03	0.57104	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.42834	.	.	.	.	.	.	.	0.008375287	0.00190	T	0.147465	0.82948	D	.	.	.	.	0.638114607455	0.63514	0.5807914367741649	0.58008	.	.	0.63261783123	0.57517	T	0.013589	0.11722	T	-0.138666	0.30104	T	-0.0175121	0.69193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.09191	B	.;.	.;.	3.314463	0.45555	22.1	0.84270451436812543	0.15194	0.99279	0.93867	D	AEFBI	0.924833	0.90346	D	.	.	.	.	.	.	0.999931482301622	0.46732	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.322829	0.05601	0	.	.	5.69	4.53	0.55009	6.850000	0.75217	9.235000	0.79383	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.8557:0.1443:0.0:0.0	12.050	0.52797	232	0.90957	.;.	.	.	.	.	.	Likely benign	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	1	0	0.002520	0.005051	0.001359	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	1615.33	193	chr11	119081604	.	A	C	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.81;DP=1824;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-2.346;SOR=0.892	GT:AD:DP:GQ:PL	0/1:93,61:154:99:1629,0,2346	18	0	1	0
chr11	120477467	120477467	A	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon35:c.A3416T:p.D1139V,ARHGEF12:NM_001301084:exon36:c.A3164T:p.D1055V,ARHGEF12:NM_015313:exon36:c.A3473T:p.D1158V	.	15	1446	58	3	0	64	0.0216509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0031	0.00439297	0.0048	0.0005	0.0025	0.0001	0.0002	0.0035	0.0067	0.0182	0.0042043	650	154602	rs201575311	0.0037	0.0037	0.0031	0.0043	0.0203	0.0036	0.0036	0.0196	0.0192	0.0004	0.0022	0.0235	0	7.678e-05	0.0096	0.0023	0.0054	0.0203	0.0028	0.0028	0.0025	0.0032	0.0216	0.0026	0.0025	0.0182	0.0169	0.0004	0	0.0021	0.0191	0.0002	0	0.0138	0.0029	0.0039	0.0216	0.009	0.59928	D	0.208	0.28300	T	0.034	0.20480	B	0.022	0.19653	B	0.241563	0.15700	N	0.561572	0.939529	0.38304	D	0.345	0.11182	N	-0.28	0.67543	T	-1.62	0.41428	N	0.204	0.25745	-1.0476	0.15073	T	0.125	0.42945	T	10	0.0033547878	0.00058	T	.	.	.	0.050	0.13987	.	.	0.501149612267	0.49752	0.2496823091204487	0.24882	0.0940106955519	0.10614	0.310207843781	0.11939	T	0.084247	0.37235	T	-0.411035	0.01956	T	-0.348263	0.39403	T	0.0149751426948374	0.00320	T	0.89921	0.64678	D	0.07452216	0.16728	0.06666297	0.13687	0.07452216	0.16728	0.06666297	0.13687	-3.925	0.22677	T	.	.	0.067	0.06803	B	.;.;.	.;.;.	2.534783	0.32776	19.14	0.97025346088614595	0.32043	0.89858	0.50600	D	AEFBI	0.289310	0.40099	N	-0.488973155004645	0.22442	1.198325	-0.343221039413463	0.26719	1.477687	0.0721364064759652	0.15591	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.9	1.06	0.19341	2.577000	0.45707	4.475000	0.43511	0.691000	0.84096	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.6004:0.3165:0.0831:0.0	6.031	0.18906	910	0.22284	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.012228	0.008772	0.050000	0.000000	0.015337	0.022727	0.02632	2656.33	40	chr11	120477467	.	A	T	2656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=997;ExcessHet=0;FS=2.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.541;SOR=0.556	GT:AD:DP:GQ:PL	0/1:137,114:251:99:2670,0,2910	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	0/1:18,19:37:99:703,0,698	11	2	6	0
chr12	6937065	6937065	C	A	exonic	ATN1	.	nonsynonymous SNV	ATN1:NM_001007026:exon5:c.C1798A:p.P600T,ATN1:NM_001940:exon5:c.C1798A:p.P600T	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00553090059097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.18562	T	0.257	0.23231	T	0.024	0.19075	B	0.012	0.16012	B	0.358219	0.13710	U	0.543710	0.977157	0.39341	D	1.67	0.42885	L	1.01	0.41058	T	-1.69	0.40274	N	0.196	0.21580	-1.0040	0.28755	T	0.094	0.35738	T	10	0.0955832	0.17083	T	0.005531	0.14258	T	0.071	0.20720	0.435	0.48664	0.187035705434	0.18338	0.2550766023431746	0.25421	0.450256649311	0.44793	0.429285049438	0.29111	T	0.433641	0.78101	T	-0.236515	0.15795	T	-0.577514	0.14768	T	0.212882295250893	0.21103	T	0.736326	0.35288	T	0.07980328	0.18251	0.068195455	0.14210	0.07980328	0.18250	0.068195455	0.14209	-4.805	0.34650	T	.	.	0.068	0.02829	B	.;.	.;.	1.860972	0.23640	16.09	0.99510302434950149	0.68558	0.16128	0.19244	N	ALL	0.173120	0.30018	N	-0.474515769186467	0.22918	1.22709	-0.445470475393367	0.23677	1.292498	0.999999990160819	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.735409	0.98432	0	.	.	3.84	2.86	0.32427	0.260000	0.18192	1.712000	0.28202	0.547000	0.25779	0.000000	0.06391	0.999000	0.35428	0.072000	0.16771	0.1478:0.7079:0.1443:0.0	10.196	0.42232	774	0.48577	.;.	.	.	.	.	.	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	1813.33	37	chr12	6937065	.	C	A	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.371;DP=920;ExcessHet=0;FS=2.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.248;SOR=0.801	GT:AD:DP:GQ:PL	0/1:89,78:167:99:1827,0,2286	18	0	1	0
chr12	8456134	8456134	A	C	exonic	CLEC6A	.	nonsynonymous SNV	CLEC6A:NM_001007033:exon1:c.A23C:p.Q8P,CLEC6A:NM_001317999:exon1:c.A23C:p.Q8P	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0058	0.0119808	0.0089	0.0019	0.0117	0	0.0015	0.0097	0.0089	0.0159	0.0092819	1435	154602	rs118084065	0.0099	0.0099	0.0098	0.0101	0.0159	0.0098	0.0097	0.0152	0.0149	0.0018	0.0108	0.0315	5.041e-05	0.0009	0.0103	0.0098	0.0123	0.0159	0.0080	0.0080	0.0082	0.0077	0.0159	0.0076	0.0075	0.0131	0.0120	0.0022	0.1031	0.0108	0.0337	0	0.0009	0.0204	0.0093	0.0109	0.0159	0.007	0.59928	D	0.008	0.67890	D	0.94	0.52768	P	0.272	0.39956	B	0.319473	0.14295	N	0.520295	1	0.08975	N	2.07	0.56829	M	3.29	0.06445	T	-1.55	0.37566	N	0.306	0.34552	-0.9950	0.31299	T	0.005	0.01506	T	10	0.0031131506	0.00052	T	.	.	.	0.040	0.10527	.	.	0.453588565359	0.44983	0.2530612940756762	0.25220	0.225619827505	0.25111	0.264399886131	0.05426	T	0.10257	0.41042	T	-0.550518	0.00290	T	-0.549931	0.17333	T	0.00599623502293781	0.00066	T	0.39826	0.10085	T	0.1970939	0.41561	0.17639962	0.40171	0.1970939	0.41561	0.17639962	0.40170	-3.316	0.13945	T	.	.	0.061	0.01126	B	.	.	1.401166	0.18154	13.58	0.92700504507297832	0.22191	0.09450	0.15203	N	AEFDGBCI	0.063924	0.12382	N	-0.441514636209237	0.24028	1.29459	-0.667939832498965	0.17764	0.9460425	0.999422505522612	0.39630	0.497415	0.19182	0	0.475579	0.06741	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.1	0.64	0.16924	1.315000	0.33214	1.090000	0.23972	0.567000	0.28720	0.010000	0.18352	0.000000	0.08366	0.021000	0.11733	0.6021:0.2567:0.1412:0.0	3.054	0.05807	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	0.007049	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.02632	518.33	34	chr12	8456134	.	A	C	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=695;ExcessHet=0;FS=5.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=-0.216;SOR=1.029	GT:AD:DP:GQ:PL	0/1:40,25:65:99:532,0,1039	18	0	1	0
chr12	8851798	8851798	A	C	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon8:c.A776C:p.E259A,A2ML1:NM_144670:exon19:c.A2249C:p.E750A	.	432	1072	18	0	0	18	0.00832562	.	.	.	504429	not_specified|not_provided|A2ML1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0046694554073	0.0006	0.000599042	0.0010	0.0001	0.0003	0	0	0.0011	0.0022	0.0026	0.0008797	136	154602	rs200618482	0.0008	0.0008	0.0007	0.0008	0.0087	0.0007	0.0007	0.0068	0.0061	0.0003	0.0005	0.0060	0	0	0.0087	0.0005	0.0012	0.0026	0.0009	0.0009	0.0008	0.0010	0.0019	0.0007	0.0007	0.0010	0.0007	0.0001	0.0263	0.0013	0.0063	0	0	0.0068	0.0007	0.0014	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.007	0.12992	B	0.009791	0.30200	N	0.151347	0.998895	0.24972	N	-0.84	0.01504	N	1.91	0.23283	T	1.05	0.01736	N	0.215	0.24010	-0.9700	0.37200	T	0.017	0.07045	T	10	0.0054761767	0.00121	T	0.004669	0.11597	T	0.101	0.28911	.	.	0.0297737177859	0.01360	0.465133654912694	0.46432	0.119823001856	0.13497	0.362503170967	0.19750	T	7.27E-4	0.00333	T	-0.600796	0.00144	T	-0.640393	0.09641	T	0.00208754520510531	0.00021	T	0.675032	0.28342	T	0.042383425	0.06417	0.026234621	0.00703	0.037103925	0.04691	0.029903045	0.01381	-3.586	0.20730	T	.	.	0.096	0.20857	B	.;.;.	.;.;.	0.565489	0.09340	6.121	0.11556447989687775	0.00177	0.16776	0.19544	N	AEFBI	0.084346	0.17093	N	-1.07134643583474	0.07175	0.3325352	-0.93396495373246	0.11296	0.574607	0.0203494592033601	0.13249	0.744818	0.98587	0	0.563428	0.19063	0	0.732433	0.93434	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	-0.686000	0.05263	1.432000	0.26455	0.743000	0.86499	0.000000	0.06391	0.007000	0.19602	0.035000	0.13729	0.7954:0.2046:0.0:0.0	8.106	0.30048	724	0.55085	Alpha-2-macroglobulin|Alpha-2-macroglobulin;Alpha-2-macroglobulin|Alpha-2-macroglobulin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.005848	0.000000	0.008621	0.003049	0.011364	0.02632	2181.33	36	chr12	8851798	.	A	C	2181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=780;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=2.01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:79,88:167:99:2195,0,1927	18	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	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	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:103,13:116:63:63,0,2879	11	0	8	0
chr12	11267441	11267441	G	0	exonic	PRB3	.	.	.	.	1030	18	92	373	9	847	0.95881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	7799.25	152	chr12	11267441	.	G	*	7799.25	.	AC=2;AF=0.333;AN=6;DP=3257;ExcessHet=0;FS=0;InbreedingCoeff=0.4242;MLEAC=6;MLEAF=1;MQ=57.19;QD=18.05;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,200:200:99:.:.:8189,583,0:.	2	1	0	16
chr12	11267457	11267583	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	0	exonic	PRB3	.	.	.	.	450	833	197	30	12	269	0.133645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1784.63	55	chr12	11267457	.	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	*	1784.63	.	AC=2;AF=0.083;AN=24;DP=1792;ExcessHet=0;FS=1.517;InbreedingCoeff=0.1648;MLEAC=3;MLEAF=0.125;MQ=50.72;MQRankSum=3.88;QD=6.76;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,200:200:99:.:.:8189,583,0:.	11	1	0	7
chr12	11308713	11308713	T	A	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.A270T:p.Q90H,PRB4:NM_002723:exon3:c.A270T:p.Q90H	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00075156988479	0.0052	0.00359425	0.0024	0.0005	0.0006	0	0.0005	0.0031	0.0022	0.0039	0.0023156	358	154602	rs112990250	0.0026	0.0027	0.0026	0.0026	0.0038	0.0025	0.0025	0.0035	0.0033	0.0002	0.0013	0.0072	0	0.0004	0.0030	0.0027	0.0029	0.0038	0.0028	0.0030	0.0027	0.0029	0.0050	0.0026	0.0025	0.0042	0.0040	0.0007	0	0.0013	0.0119	0	0.0002	0	0.0046	0.0024	0.0050	0.0	0.91255	D	0.141	0.33442	T	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	.	.	.	3.61	0.04446	T	-0.64	0.52451	N	0.285	0.34874	-1.0302	0.20390	T	0.011	0.04369	T	8	0.006331533	0.00143	T	7.52E-4	0.00529	T	0.080	0.23350	0.249	0.18602	0.0297737177859	0.01360	0.14059251197797693	0.13982	5.81669046081E-4	0.00054	.	.	.	0.013	0.11527	T	-0.53173	0.00375	T	-0.534235	0.18865	T	0.0148388368170142	0.00313	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.57280	B	.;.;.;.	.;.;.;.	0.596357	0.09647	6.420	0.69968095123295138	0.09143	0.00226	0.01270	N	AEFBI	0.031791	0.03466	N	-0.80667105089402	0.13139	0.6452152	-1.111829060281	0.07473	0.3636471	4.84455279906107E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.687	-1.37	0.08582	-3.217000	0.00612	-8.950000	0.00889	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	0.001587	0.000000	0.000000	0.004098	0.000000	0.000000	0.009146	0.000000	0.02632	2429.33	194	chr12	11308713	.	T	A	2429.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.523;DP=4907;ExcessHet=0;FS=3.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.76;MQRankSum=-0.09;QD=9.1;ReadPosRankSum=-1.352;SOR=0.541	GT:AD:DP:GQ:PL	0/1:150,117:267:99:2443,0,4009	18	0	1	0
chr12	12908649	12908649	A	G	exonic	GPRC5A	.	nonsynonymous SNV	GPRC5A:NM_003979:exon2:c.A400G:p.I134V	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0232343930119	0.0068	0.00279553	0.0063	0.0011	0.0058	0	0.0018	0.0097	0.0033	0.0015	0.0063324	979	154602	rs146456083	0.0081	0.0081	0.0082	0.0080	0.0118	0.0080	0.0080	0.0095	0.0091	0.0013	0.0061	0.0160	0	0.0023	0.0118	0.0093	0.0080	0.0018	0.0059	0.0059	0.0062	0.0055	0.0095	0.0056	0.0054	0.0089	0.0086	0.0013	0.0033	0.0060	0.0130	0.0006	0.0016	0.0272	0.0095	0.0080	0.0029	0.053	0.38863	T	0.429	0.15842	T	0.139	0.27501	B	0.026	0.20792	B	0.340148	0.13976	N	0.710623	1	0.08975	N	1.95	0.52479	M	-2.29	0.87591	D	-0.4	0.13805	N	0.098	0.07949	-0.7468	0.58102	T	0.355	0.71774	T	10	0.009804606	0.00220	T	0.023234	0.46189	T	0.113	0.31778	.	.	0.459282285925	0.45551	0.09799676066710526	0.09730	0.0405854047819	0.04348	0.284715533257	0.08158	T	0.255836	0.62667	T	-0.357346	0.04282	T	-0.278117	0.46998	T	0.00653458727677705	0.00073	T	0.691931	0.30130	T	0.07007527	0.15406	0.055050515	0.09583	0.07007527	0.15406	0.055050515	0.09582	-3.403	0.15097	T	.	.	0.101	0.23465	B	.;.;.	.;.;.	1.161654	0.15504	11.90	0.86613532475089228	0.16654	0.55143	0.29790	D	AEFGBHCI	0.228861	0.35247	N	-0.552226736514286	0.20414	1.07596	-0.49246902524428	0.22361	1.214123	0.999998467325783	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.63	1.59	0.22622	1.045000	0.29951	1.298000	0.25456	0.756000	0.94297	0.980000	0.35271	0.685000	0.26142	0.203000	0.21983	0.4074:0.3099:0.0:0.2827	6.596	0.21869	923	0.18507	GPCR family 3, C-terminal;GPCR family 3, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.025253	0.009511	0.008772	0.000000	0.000000	0.009146	0.003788	0.02632	2608.33	33	chr12	12908649	.	A	G	2608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=852;ExcessHet=0;FS=5.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.72;SOR=0.859	GT:AD:DP:GQ:PL	0/1:87,97:184:99:2622,0,2047	18	0	1	0
chr12	26602630	26602630	C	T	exonic	ITPR2	.	nonsynonymous SNV	ITPR2:NM_002223:exon27:c.G3539A:p.R1180Q	.	443	1063	16	0	0	16	0.00746965	.	.	.	725055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.218	.	0.0057	0.00279553	0.0044	0.0013	0.0025	0	0.0005	0.0062	0.0056	0.0039	0.0044566	689	154602	rs35862420	0.0060	0.0061	0.0059	0.0062	0.0073	0.0059	0.0059	0.0069	0.0068	0.0012	0.0041	0.0030	0.0001	0.0003	0.0073	0.0070	0.0047	0.0043	0.0054	0.0054	0.0060	0.0048	0.0079	0.0051	0.0050	0.0074	0.0072	0.0013	0.0899	0.0062	0.0043	0.0002	0.0002	0.0272	0.0079	0.0057	0.0033	0.551	0.06564	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.063747	0.22002	N	0.498399	0.609463	0.32608	D	0.345	0.11182	N	-2.41	0.88533	D	-1.58	0.38151	N	0.176	0.18920	-0.5768	0.65744	T	0.353	0.71650	T	10	0.006019622	0.00135	T	.	.	.	0.218	0.51265	.	.	0.685097662135	0.68241	0.07574022133302347	0.07510	0.253854614516	0.27951	0.264534235001	0.05443	T	0.350104	0.71787	T	-0.371356	0.03526	T	-0.301077	0.44612	T	0.0133498682260292	0.00241	T	0.947805	0.79866	D	0.07195346	0.15970	0.04891079	0.07364	0.07195346	0.15969	0.04891079	0.07364	-3.458	0.15849	T	.	.	0.067	0.02342	B	.	.	3.898775	0.56773	23.8	0.93916534581051647	0.23955	0.75825	0.37146	D	AEFBI	0.147439	0.27111	N	-0.246391743540757	0.31247	1.750234	-0.0704487662434825	0.36618	2.133331	0.456182915423413	0.20584	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.83	3.94	0.44807	1.717000	0.37612	2.096000	0.30576	0.580000	0.29708	0.982000	0.35529	0.219000	0.23700	0.951000	0.49849	0.0:0.8315:0.0:0.1685	7.909	0.28941	855	0.34697	.	.	.	.	.	.	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	0.008569	0.020408	0.005435	0.008772	0.000000	0.008621	0.009146	0.000000	0.02632	773.33	33	chr12	26602630	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.95;SOR=0.614	GT:AD:DP:GQ:PL	0/1:38,32:70:99:787,0,750	18	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	268.86	33	chr12	29311098	.	C	T	268.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.443;DP=1160;ExcessHet=0.119;FS=96.088;InbreedingCoeff=-0.0567;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.38;SOR=8.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,15:115:99:.:.:155,0,3662:.	17	0	2	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:142,21:163:45:45,0,3864	13	0	6	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,36:81:99:.:.:149,0,539:.	2	0	16	1
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2585.75	1164	chr12	40483175	.	GAAC	G	2585.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=6.4;DP=14253;ExcessHet=0.3672;FS=6.847;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.67;MQRankSum=-16.38;QD=1;ReadPosRankSum=-9.998;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:978,97:1075:99:0|1:40483128_A_G:1129,0,40774:40483128	16	0	3	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1334.54	1338	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	1334.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=7.49;DP=14350;ExcessHet=0.119;FS=5.203;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.67;MQRankSum=-7.494;QD=0.84;ReadPosRankSum=-7.706;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1123,89:1212:99:0|1:40483128_A_G:357,0,46887:40483128	16	0	2	1
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9441.75	1246	chr12	40486404	.	T	TATCA	9441.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=7.82;DP=18290;ExcessHet=0.3672;FS=54.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.38;MQRankSum=-29.47;QD=3.04;ReadPosRankSum=-9.184;SOR=5.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:779,141:920:99:0|1:40486404_T_TATCA:3236,0,31997:40486404	16	0	3	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10221.9	1299	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	10221.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.72;DP=19206;ExcessHet=0.3672;FS=49.592;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.5;MQ=57.31;MQRankSum=-29.22;QD=3.29;ReadPosRankSum=-14.88;SOR=4.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:769,141:917:99:.:.:3412,0,31635:.	3	0	3	13
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|1:1053,88:1141:99:0|1:40487346_A_T:416,0,43801:40487346	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|1:1051,88:1139:99:0|1:40487346_A_T:421,0,43849:40487346	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	0/1:1024,105:1129:99:.:.:1130,0,30725:.	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|1:1051,88:1139:99:0|1:40487346_A_T:425,0,43839:40487346	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|1:1053,88:1141:99:0|1:40487346_A_T:420,0,43918:40487346	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|1:1043,88:1131:99:0|1:40487346_A_T:451,0,43489:40487346	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	0/1:1008,88:1098:99:.:.:452,0,43439:.	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|1:1038,88:1126:99:0|1:40487346_A_T:467,0,43277:40487346	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|1:1060,88:1148:99:0|1:40487346_A_T:408,0,44194:40487346	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	0/1:1029,88:1124:99:.:.:461,0,43541:.	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|1:1053,82:1135:99:0|1:40487346_A_T:185,0,43937:40487346	15	0	4	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1059,0:1060:6:.:.:3531,0,43986:.	14	0	5	0
chr12	40507004	40507004	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	442	1064	15	1	0	17	0.00792541	.	.	.	2806890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs536871012	0.0017	0.0004	0	0.0029	0.0091	0	0	.	.	0	.	.	.	0	0	0.0091	0	0	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0050	0.0001	0	0.0026	0.0089	0	0.0008	0.0034	0.0011	0.0024	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1763.33	166	chr12	40507004	.	C	T	1763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=1692;ExcessHet=0;FS=2.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.722;SOR=0.919	GT:AD:DP:GQ:PL	0/1:95,71:166:99:1777,0,2343	18	0	1	0
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,10:148:4:0|1:40509053_T_A:4,0,5754:40509053	4	0	6	9
chr12	45852519	45852519	A	G	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.A4396G:p.S1466G,ARID2:NM_152641:exon15:c.A4396G:p.S1466G	.	429	1092	1	0	0	1	0.000457666	.	.	.	2774809	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	0.0125058065254	7.7e-05	.	7.415e-05	9.612e-05	0.0004	0	0	2.997e-05	0	6.056e-05	6.47e-05	10	154602	rs141396339	1.915e-05	1.915e-05	2.45e-05	1.375e-05	0.0002	1.328e-05	1.144e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	1.529e-05	1.656e-05	4.637e-05	2.626e-05	3.281e-05	1.285e-05	4.028e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.075	0.45530	T	0.982	0.63424	D	0.952	0.74454	D	0.000039	0.55875	D	0.225384	0.927833	0.42492	D	1.04	0.26193	L	1.31	0.35405	T	-0.51	0.22944	N	0.658	0.77601	-0.8768	0.50013	T	0.137	0.45280	T	10	0.41568485	0.56525	T	0.012506	0.31146	T	0.209	0.49871	.	.	0.36413608308	0.36018	0.1961289181450538	0.19529	0.529290241434	0.50498	0.581927061081	0.50357	T	0.037084	0.24346	T	-0.130468	0.31422	T	-0.155885	0.58719	T	0.249917635582466	0.22869	T	0.861714	0.55578	D	0.36514628	0.58224	0.2569578	0.51404	0.36514628	0.58225	0.2569578	0.51403	-4.48	0.30626	T	.	.	0.134	0.37895	B	.;.;.;.	.;.;.;.	4.334617	0.66445	25.0	0.99673890086532613	0.78782	0.96957	0.71871	D	AEFBI	0.551342	0.56345	D	0.595090745516831	0.72868	5.87386	0.649612381939147	0.78580	6.905287	0.799516032727889	0.24161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.584000	0.60682	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8695:0.0:0.0:0.1305	11.844	0.51647	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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2472.33	35	chr12	45852519	.	A	G	2472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.692;DP=831;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.439;SOR=0.598	GT:AD:DP:GQ:PL	0/1:93,99:192:99:2486,0,2588	18	0	1	0
chr12	49349614	49349614	G	A	exonic	DNAJC22	.	nonsynonymous SNV	DNAJC22:NM_024902:exon2:c.G742A:p.G248R,DNAJC22:NM_001304944:exon3:c.G742A:p.G248R	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0452927320114	0.0008	0.000399361	0.0013	0.0003	0.0007	0	0	0.0016	0.0022	0.0023	0.0012872	199	154602	rs146992631	0.0017	0.0017	0.0017	0.0017	0.0023	0.0017	0.0016	0.0021	0.0020	0.0001	0.0004	0	0	0.0001	0.0021	0.0020	0.0014	0.0023	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0001	0	0	0	0	0.0017	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.06	0.23119	B	0.019	0.18783	B	0.000001	0.84330	N	0.095855	0.999985	0.54805	D	2.515	0.73286	M	0.92	0.44461	T	-1.13	0.29114	N	0.75	0.74918	-0.9512	0.40765	T	0.116	0.40986	T	10	0.02836591	0.00969	T	0.045293	0.61911	D	0.205	0.49236	0.438	0.49157	0.396645960531	0.39282	0.621036417418012	0.62036	0.0455992530487	0.04953	0.468217849731	0.34435	T	0.045254	0.27065	T	-0.301966	0.08476	T	-0.212387	0.53467	T	0.119912397129018	0.14421	T	.	.	.	0.41996384	0.62089	0.48152873	0.69977	0.41996384	0.62090	0.48152873	0.69978	-5.4	0.40919	T	.	.	0.168	0.36966	B	.;.	.;.	3.948743	0.57831	23.9	0.99868979853534001	0.94726	0.96194	0.67967	D	AEFBI	0.775931	0.70919	D	-0.234119741038968	0.31741	1.78294	-0.204252931669243	0.31382	1.775566	0.999999873718164	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.567892	0.33627	0	.	.	4.89	4.0	0.45673	5.312000	0.65579	6.600000	0.56053	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0917:0.0:0.9082:0.0	11.110	0.47447	200	0.92234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.000000	0.000000	0.02632	1571.33	34	chr12	49349614	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=755;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.34;SOR=0.527	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1585,0,1065	18	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	293.51	64	chr12	52385056	.	G	C	293.51	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.699;DP=1326;ExcessHet=0.119;FS=555.56;InbreedingCoeff=-0.1115;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.43;SOR=7.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,20:78:99:.:.:129,0,1404:.	16	0	2	1
chr12	52424702	52424702	C	T	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon9:c.G1471A:p.G491S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.016270021816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.195	0.28032	T	0.006	0.13644	B	0.004	0.10090	B	0.226949	0.16007	N	0.522500	1	0.08975	N	1.9	0.50570	L	-3.74	0.95493	D	-1.99	0.45949	N	0.233	0.26233	-0.4588	0.70108	T	0.575	0.84644	D	10	0.070818245	0.10355	T	0.01627	0.37444	T	0.268	0.58254	0.302	0.27003	0.348764635752	0.34483	0.5419504819490244	0.54120	0.086098281219	0.09729	0.306460976601	0.11372	T	0.303257	0.67562	T	0.038541	0.56854	T	-0.182415	0.56299	T	0.0741974636912346	0.09228	T	0.165083	0.01523	T	0.050598	0.09165	0.06436536	0.12888	0.050598	0.09164	0.06436536	0.12888	-5.315	0.40091	T	.	.	0.070	0.03443	B	.	.	1.231322	0.16264	12.42	0.53495995071233693	0.04951	0.14881	0.18633	N	AEFBI	0.067463	0.13263	N	-1.26205132109622	0.04142	0.1864162	-1.2377741788031	0.05315	0.2529207	0.0152254109907561	0.12689	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.88	0.986	0.18902	0.672000	0.24868	.	.	-0.316000	0.05924	0.039000	0.20931	0.000000	0.08366	0.854000	0.40426	0.1769:0.5376:0.0:0.2856	3.491	0.07202	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	.	.	.	.	.	.	.	.	0.02632	700.33	34	chr12	52424702	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=747;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.594;SOR=1.182	GT:AD:DP:GQ:PL	0/1:27,25:52:99:714,0,682	18	0	1	0
chr12	52544690	52544690	C	A	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon9:c.G1414T:p.V472F	.	418	1098	6	0	0	6	0.0027248	.	.	.	702374	KRT71-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.398	0.113247313576	0.0038	0.00199681	0.0042	0.0012	0.0023	0	0.0020	0.0069	0.0022	6.062e-05	0.0041655	644	154602	rs144618122	0.0057	0.0057	0.0058	0.0055	0.0068	0.0056	0.0055	0.0067	0.0066	0.0009	0.0029	0.0008	0	0.0027	0.0028	0.0068	0.0053	0.0002	0.0040	0.0040	0.0042	0.0038	0.0067	0.0037	0.0036	0.0062	0.0060	0.0014	0	0.0041	0.0003	0	0.0018	0	0.0067	0.0052	0.0006	0.166	0.23183	T	0.703	0.05663	T	0.911	0.50336	P	0.312	0.41466	B	0.002594	0.36278	N	0.000000	0.500924	0.31740	D	2.25	0.63811	M	-1.54	0.81640	D	-0.29	0.11728	N	0.386	0.42737	-0.5478	0.66870	T	0.215	0.57692	T	10	0.0070506036	0.00160	T	0.113247	0.79168	D	0.398	0.71242	.	.	0.694469183971	0.69183	0.5703252027034303	0.56960	0.324130720677	0.34570	0.523975968361	0.42187	T	0.036397	0.24088	T	-0.198272	0.21055	T	-0.0471922	0.67214	D	0.0275868187282274	0.01628	T	0.766023	0.39401	T	0.22166216	0.44748	0.18730983	0.41956	0.2163197	0.44087	0.17598224	0.40100	-5.143	0.38357	T	.	.	0.098	0.16099	B	.	.	2.804402	0.36903	20.4	0.99004663179765429	0.50231	0.81854	0.41176	D	AEFDGBHCI	0.115692	0.22737	N	-0.0679446180587846	0.38804	2.278438	-0.0262094370565259	0.38535	2.271715	0.999988518758378	0.51787	0.422189	0.06491	0	0.563428	0.19063	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	1.611000	0.36490	.	.	0.599000	0.40250	0.190000	0.24188	0.998000	0.33993	0.936000	0.47498	0.0:1.0:0.0:0.0	12.327	0.54340	856	0.34373	.	.	.	.	.	rs144618122	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	0.003532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	671.33	76	chr12	52544690	.	C	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.412;DP=979;ExcessHet=0;FS=3.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.711;SOR=1.341	GT:AD:DP:GQ:PL	0/1:39,27:66:99:685,0,1028	18	0	1	0
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTG	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insCACTACAAACTCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Tfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.857e-05	5.213e-05	1.779e-05	1.935e-05	0.0002	1.272e-05	1.09e-05	1.221e-05	1.036e-05	0	0	0	0	7.521e-05	0.0002	1.901e-05	1.664e-05	0	0.0001	0.0001	9.046e-05	0.0001	0.0002	6.548e-05	5.352e-05	9.122e-05	7.066e-05	0	0	0.0002	0	0	9.452e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	307.29	36	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTG	307.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=764;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-1.14;SOR=0.99	GT:AD:DP:GQ:PL	0/1:101,15:116:99:321,0,4174	18	0	1	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	0/1:75,28:108:41:41,0,1725	11	0	5	3
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,21:126:48:0|1:56716773_G_C:48,0,3639:56716773	11	0	7	1
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	101.41	36	chr12	56716774	.	T	C	101.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.514;DP=1288;ExcessHet=0.7564;FS=97.022;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.033;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,21:126:48:0|1:56716773_G_C:48,0,3639:56716773	15	0	4	0
chr12	66137978	66137978	T	G	exonic	TMBIM4	.	nonsynonymous SNV	TMBIM4:NM_001282610:exon7:c.A606C:p.E202D,TMBIM4:NM_016056:exon7:c.A699C:p.E233D,TMBIM4:NM_001282606:exon8:c.A840C:p.E280D	.	436	1064	17	5	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0013	0.00299521	0.0020	0.0002	0.0032	0	0	0.0013	0.0011	0.0066	0.001934	299	154602	rs147884415	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0067	0.0065	0.0002	0.0026	0.0023	2.52e-05	0	0.0066	0.0014	0.0019	0.0071	0.0014	0.0014	0.0014	0.0013	0.0071	0.0012	0.0012	0.0052	0.0045	0.0002	0.0351	0.0011	0.0017	0	9.429e-05	0	0.0016	0.0024	0.0071	0.548	0.17821	T	0.436	0.14588	T	0.0	0.07471	B	0.003	0.08700	B	0.000061	0.52346	N	0.162296	0.871257	0.81001	D	0.75	0.19020	N	1.52	0.31205	T	0.0	0.12472	N	0.051	0.06190	-1.0861	0.06209	T	0.062	0.25923	T	9	0.0068548024	0.00156	T	.	.	.	0.028	0.06331	0.442	0.49811	0.535959997616	0.53246	0.35909729547073704	0.35823	0.224836973963	0.25018	0.418829500675	0.27676	T	0.004694	0.04103	T	-0.532562	0.00371	T	-0.533899	0.18899	T	0.0101599433400537	0.00137	T	0.708429	0.33029	T	0.057431	0.11427	0.09329757	0.22030	0.057431	0.11427	0.09329757	0.22030	-1.422	0.01612	T	.	.	0.215	0.45593	B	.;.;.	.;.;.	1.599486	0.20451	14.75	0.98820339463767581	0.46769	0.84154	0.43238	D	AEFDBI	0.212133	0.33785	N	-0.375116914381724	0.26359	1.437949	-0.216751398241781	0.30935	1.74615	0.978222220914938	0.29900	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.87	2.18	0.26813	1.140000	0.31128	1.222000	0.24983	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2091:0.1231:0.6679	6.366	0.20658	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	0.004036	0.000000	0.004076	0.002924	0.000000	0.000000	0.003067	0.007576	0.02632	665.33	35	chr12	66137978	.	T	G	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.795;DP=674;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.462;SOR=0.519	GT:AD:DP:GQ:PL	0/1:29,28:57:99:679,0,869	18	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,10:82:99:0|1:70329448_G_A:138,0,2913:70329448	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,10:82:99:0|1:70329448_G_A:138,0,2913:70329448	2	0	6	11
chr12	101720150	101720150	A	T	exonic	CHPT1	.	nonsynonymous SNV	CHPT1:NM_020244:exon5:c.A676T:p.I226F	.	447	1070	5	0	0	5	0.002331	.	.	.	3297211	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00246770522269	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	6.066e-05	0	0.0009	0.0001423	22	154602	rs144773874	8.058e-05	8.278e-05	4.149e-05	0.0001	0.0009	6.837e-05	6.363e-05	0.0007	0.0007	0	9.658e-05	0	2.537e-05	0	0.0004	2.275e-05	0.0002	0.0009	2.63e-05	2.625e-05	2.573e-05	2.689e-05	0.0004	8.15e-06	5.14e-06	7.341e-05	3.048e-05	0	0	6.55e-05	0	0	0	0	1.471e-05	0	0.0004	0.571	0.07071	T	0.493	0.11443	T	0.004	0.17332	B	0.003	0.18783	B	0.012140	0.29280	N	0.405345	0.804499	0.34555	D	1.15	0.29295	L	0.93	0.44461	T	-0.1	0.08495	N	0.182	0.19728	-1.0407	0.17101	T	0.068	0.27879	T	10	0.017530441	0.00375	T	0.002468	0.04896	T	0.059	0.16972	.	.	0.560190409015	0.55679	0.6866850732149441	0.68608	0.447342404213	0.44593	0.473816335201	0.35206	T	0.009741	0.08845	T	-0.487369	0.00672	T	-0.523289	0.19962	T	0.0747826548015904	0.09306	T	0.724128	0.33779	T	0.05235814	0.09755	0.054374184	0.09340	0.05235814	0.09754	0.054374184	0.09340	-5.936	0.45741	T	.	.	0.080	0.07602	B	.;.	.;.	2.436972	0.31360	18.72	0.93408798050935649	0.23170	0.90890	0.52455	D	AEFGBI	0.768510	0.70405	D	-0.283465755106964	0.29787	1.654981	-0.121052407953325	0.34543	1.988129	0.0320169569763441	0.14033	0.706298	0.61202	0	0.659464	0.62310	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.41	3.08	0.34576	3.983000	0.56625	6.139000	0.54026	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7075:0.0:0.1513:0.1412	5.268	0.14924	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	969.33	33	chr12	101720150	.	A	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.418;DP=704;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.69;SOR=0.869	GT:AD:DP:GQ:PL	0/1:31,43:74:99:983,0,709	18	0	1	0
chr12	103985730	103985730	-	GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	splicing	TDG	NM_001363612:exon8:c.661+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC;NM_003211:exon9:c.1090+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	.	.	.	434	1020	7	0	61	68	0.00341964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0011	0.0003	0.0002	0.0002	0.0004	0.0006	0	1.317e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3706.52	114	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	3706.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1630;ExcessHet=2.9153;FS=4.626;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-7.797;QD=5.8;ReadPosRankSum=-4.562;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,22:109:99:0|1:103985728_A_ATTGAGAGC:588,0,3466:103985728	18	0	1	0
chr12	104103161	104103161	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon15:c.C2267T:p.T756I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00797426799649	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs779584088	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.077	0.42436	T	0.044	0.21686	B	0.036	0.22909	B	0.000959	0.40932	D	0.250743	0.997965	0.44365	D	2.305	0.65957	M	4.31	0.02412	T	-3.78	0.71519	D	0.421	0.46086	-1.0318	0.19873	T	0.014	0.05561	T	10	0.18385056	0.33732	T	0.007974	0.21136	T	0.063	0.18251	0.333	0.32005	0.168254554758	0.16434	0.9339236021016031	0.93371	0.970847484119	0.73358	0.615637183189	0.55111	T	0.420746	0.77236	T	-0.169477	0.25313	T	-0.465733	0.25978	T	0.933360576629639	0.60006	D	0.946905	0.79612	D	0.418056	0.61962	0.41673	0.65748	0.418056	0.61963	0.41673	0.65748	-10.072	0.74342	D	.	.	0.910	0.83424	P	.	.	4.285299	0.65313	24.8	0.9983247537479315	0.91370	0.94619	0.61758	D	AEFBI	0.314157	0.41910	N	0.0318564438384216	0.43309	2.626323	0.185638516350991	0.49059	3.113786	0.999999279143469	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.9	5.02	0.66742	3.302000	0.51557	7.676000	0.65050	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.0:0.9321:0.0:0.0679	15.026	0.71331	851	0.35303	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	2298.33	33	chr12	104103161	.	C	T	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.168;DP=858;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.34;SOR=0.755	GT:AD:DP:GQ:PL	0/1:122,100:222:99:2312,0,3051	18	0	1	0
chr12	104928286	104928286	T	C	exonic	SLC41A2	.	nonsynonymous SNV	SLC41A2:NM_001352171:exon2:c.A242G:p.E81G,SLC41A2:NM_001352172:exon2:c.A242G:p.E81G,SLC41A2:NM_001352169:exon3:c.A242G:p.E81G,SLC41A2:NM_001352170:exon3:c.A242G:p.E81G,SLC41A2:NM_032148:exon3:c.A242G:p.E81G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00501654590727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173953923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.58626	T	0.231	0.59732	T	0.0	0.02946	B	0.0	0.01387	B	0.000007	0.62929	D	0.064474	0.994525	0.42315	D	0.55	0.14455	N	1.95	0.32482	T	-1.45	0.90023	N	0.19	0.20793	-1.0981	0.04328	T	0.079	0.31314	T	10	0.14551082	0.27601	T	0.005017	0.12690	T	0.131	0.35738	0.319	0.29741	0.043077524339	0.03247	0.19779725142821464	0.19696	0.591342767724	0.54574	0.350371956825	0.17976	T	0.035414	0.36423	T	-0.0882601	0.38363	T	-0.364556	0.37524	T	0.399718905705128	0.28931	T	0.829117	0.49623	T	0.17649415	0.38565	0.1694247	0.38975	0.17649415	0.38565	0.1694247	0.38974	-3.262	0.13252	T	.	.	0.098	0.30103	B	.;.;.;.	.;.;.;.	3.025580	0.40509	21.2	0.99820228552930557	0.90326	0.90618	0.51944	D	AEFDBI	0.595528	0.59004	D	0.0585253689786046	0.44536	2.725819	0.256517978684392	0.53021	3.473234	0.999999976449939	0.74766	0.706298	0.61202	0	0.719019	0.82233	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	3.808000	0.55303	6.080000	0.53339	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	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	.	.	.	.	.	.	.	.	0.02632	2519.33	35	chr12	104928286	.	T	C	2519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=824;ExcessHet=0;FS=2.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.004;SOR=0.518	GT:AD:DP:GQ:PL	0/1:91,98:189:99:2533,0,2443	18	0	1	0
chr12	113174753	113174753	G	A	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon10:c.C955T:p.R319W,DDX54:NM_024072:exon10:c.C955T:p.R319W	.	421	1100	1	0	0	1	0.000454339	.	.	.	2291355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.604	0.0582221198356	.	.	5.806e-05	0	8.657e-05	0	0.0005	4.52e-05	0	0	4.53e-05	7	154602	rs199610294	2.947e-05	3.01e-05	2.453e-05	3.447e-05	0.0002	2.22e-05	1.973e-05	9.33e-06	7.63e-06	0	2.238e-05	3.831e-05	0	0.0004	0.0002	1.532e-05	1.66e-05	1.16e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.409e-05	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.835	0.82492	M	2.74	0.11730	T	-6.08	0.89910	D	0.903	0.90363	-0.6806	0.61345	T	0.157	0.48891	T	10	0.8269017	0.81867	D	0.058222	0.67243	D	0.604	0.84398	.	.	0.447609009685	0.44385	0.7948707330897274	0.79440	1.05832423389	0.76393	0.70555472374	0.67948	T	0.204511	0.56330	T	0.187085	0.72695	D	0.113823	0.77825	D	0.882790505886078	0.53292	D	0.822218	0.48193	T	0.78640455	0.83050	0.6613684	0.80157	0.78640455	0.83051	0.6613684	0.80158	-11.025	0.79796	D	.	.	0.245	0.47976	B	.;.	.;.	5.674346	0.92956	33	0.99910975314411177	0.98022	0.97817	0.77351	D	ALL	0.929961	0.91652	D	0.925262877913125	0.92941	11.72251	0.828068995522983	0.91673	11.00751	0.999999999999999	0.74766	0.712529	0.81865	0	0.67197	0.64623	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.33	5.33	0.75683	9.822000	0.98298	7.470000	0.59142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.612	0.91246	724	0.55085	.;Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1453.33	34	chr12	113174753	.	G	A	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.009;DP=725;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.501;SOR=0.563	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1467,0,1358	18	0	1	0
chr12	131005972	131005972	C	T	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon12:c.C1256T:p.A419V,ADGRD1:NM_001330497:exon13:c.C1352T:p.A451V	.	.	.	.	.	.	.	.	0.0026	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0173930501276	7.7e-05	.	0.0001	9.839e-05	0	0	0	0.0001	0.0011	6.069e-05	9.06e-05	14	154602	rs370959644	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.988e-05	0	3.826e-05	0	0	0.0014	0.0001	0.0001	6.956e-05	5.913e-05	5.909e-05	7.707e-05	4.035e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.239e-05	0	0	6.541e-05	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.005	0.72224	D	0.012	0.16265	B	0.025	0.20508	B	0.000254	0.46924	D	0.147344	0.63153	0.32794	D	.	.	.	0.75	0.50721	T	-1.41	0.36787	N	0.29	0.34659	-1.0548	0.13093	T	0.110	0.39699	T	9	0.21808237	0.38440	T	0.017393	0.39069	T	0.044	0.11924	.	.	0.346085882481	0.34212	0.5922132016132051	0.59151	0.383136898695	0.39647	0.31976005435	0.13385	T	0.045219	0.27056	T	-0.307854	0.07938	T	-0.454286	0.27225	T	0.0760242058509086	0.09471	T	0.743326	0.36245	T	0.09088789	0.21280	0.16907574	0.38915	0.09088789	0.21280	0.16907574	0.38914	-5.832	0.44852	T	.	.	0.119	0.24532	B	.;.	.;.	1.544469	0.19804	14.44	0.99772900693259814	0.86088	0.65512	0.32762	D	AEFBI	0.236886	0.35926	N	-0.279067660664429	0.29956	1.666009	-0.212994508497062	0.31068	1.754881	0.892037327981501	0.25873	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.56	2.64	0.30504	0.443000	0.21360	0.528000	0.19223	-0.306000	0.06133	0.984000	0.35821	0.078000	0.22336	0.147000	0.20199	0.0:0.6308:0.3692:0.0	10.899	0.46248	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1481.33	41	chr12	131005972	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.666;DP=902;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.468;SOR=0.516	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1495,0,1268	18	0	1	0
chr12	132062549	132062560	CAGCAGCAGCAG	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8182_8193del:p.Q2745_Q2748del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1369487641	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	9.146e-05	0.0003	3.918e-05	0.0004	5.907e-05	0.0004	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0.0008	0	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	32251.8	112	chr12	132062548	.	ACAGCAGCAGCAG	A	32251.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=2802;ExcessHet=3.6106;FS=0.541;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=1.18;SOR=0.782	GT:AD:DP:GQ:PL	0/1:0,46:90:99:3634,1979,2576	18	0	1	0
chr12	132144113	132144113	G	A	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon1:c.C184T:p.P62S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.021704161931	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs576474727	1.03e-05	5.062e-05	3.566e-06	1.775e-05	0.0004	5.53e-06	4.04e-06	0.0002	0.0002	0	0	0	0	0	0	1.095e-06	2.38e-05	0.0004	6.64e-06	6.577e-06	1.299e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.602	0.05601	T	0.844	0.03569	T	0.005	0.12996	B	0.003	0.08700	B	0.004059	0.01001	U	9.027730	1	0.08975	N	-0.205	0.04094	N	4.69	0.01694	T	0.25	0.04456	N	0.093	0.07262	-0.9338	0.43575	T	0.004	0.01330	T	10	0.030655801	0.01193	T	0.021704	0.44515	T	0.025	0.05312	0.318	0.29581	0.0762999501168	0.06990	0.3119031203318775	0.31103	0.167350641781	0.18878	0.769748091698	0.77387	T	0.002453	0.01845	T	-0.256783	0.13278	T	-0.606627	0.12261	T	0.101646967232227	0.12537	T	0.286771	0.05140	T	0.022510555	0.00919	0.046744056	0.06584	0.022510555	0.00919	0.046744056	0.06583	-5.0	0.36840	T	.	.	0.075	0.05579	B	.	.	0.805327	0.11760	8.336	0.92350808519162042	0.21752	0.01111	0.04064	N	AEFDGBHCI	0.037393	0.05136	N	-1.45523333740337	0.02176	0.09579203	-1.44500934658809	0.02816	0.1302034	0.999999995824628	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.11	1.08	0.19456	0.379000	0.20315	-0.151000	0.11419	-0.798000	0.03190	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.6845:0.1922:0.1232	6.579	0.21779	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	208.33	17	chr12	132144113	.	G	A	208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.72;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,8:16:99:222,0,216	18	0	1	0
chr12	133121791	133121791	A	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.T128C:p.M43T	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	0.00399361	0.0171	0.0040	0.0051	0	0.0284	0.0135	0.0052	0.0193	0.0028395	439	154602	rs11147241	0.0071	0.0068	0.0068	0.0075	0.0159	0.0070	0.0069	0.0152	0.0149	0.0009	0.0037	0.0231	5.597e-05	0.0236	0.0132	0.0060	0.0074	0.0159	0.0067	0.0067	0.0057	0.0078	0.0141	0.0064	0.0062	0.0114	0.0104	0.0006	0	0.0048	0.0213	0.0002	0.0253	0.0136	0.0073	0.0066	0.0141	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.735	0.44892	L	4.67	0.01735	T	-1.27	0.31981	N	0.303	0.34228	-1.0652	0.10502	T	0.010	0.03537	T	5	0.0045554936	0.00094	T	.	.	.	0.108	0.30607	.	.	0.043077524339	0.03247	0.10339948176292266	0.10269	0.0205511460022	0.02023	0.261319935322	0.05049	T	0.006881	0.06306	T	-0.5581	0.00261	T	-0.560823	0.16299	T	0.0170166397133512	0.00450	T	0.910809	0.68393	D	0.52541	0.68569	0.42895132	0.66593	0.52541	0.68570	0.42895132	0.66593	-5.486	0.41737	T	.	.	0.617	0.69559	P	.	.	2.194521	0.27984	17.65	0.97262635867247871	0.33098	0.16088	0.19225	N	AEFBI	0.066787	0.13095	N	-0.126146370739987	0.36257	2.093278	-0.190241992970159	0.31895	1.809316	0.0900386912113356	0.16099	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	1.244000	0.32381	4.555000	0.43818	0.756000	0.94297	0.001000	0.13787	0.198000	0.23548	0.868000	0.41282	1.0:0.0:0.0:0.0	11.028	0.46973	856	0.34373	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4091.79	46	chr12	133121791	.	A	G	4091.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.67;DP=1027;ExcessHet=0.3672;FS=1.238;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1567,0,1506	16	0	3	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S,PSPC1:NM_001042414:exon9:c.A1349G:p.N450S	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	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	0.007380	0.017857	0.009642	0.013274	0.000000	0.000000	0.007874	0.000000	0.05263	210.83	34	chr13	19705699	.	T	C	210.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.835;DP=1038;ExcessHet=0.119;FS=1.975;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.64;MQRankSum=-4.063;QD=0.72;ReadPosRankSum=-1.983;SOR=1.046	GT:AD:DP:GQ:PL	0/1:130,20:152:99:187,0,3521	17	0	2	0
chr13	20189241	20189241	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A341G:p.E114G	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1508	13	1	0	15	0.00494886	.	.	YES	53906	Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|not_specified|Ichthyosis,_hystrix-like,_with_hearing_loss|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|not_provided	MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MedGen:CN169374|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	.	0.0006	0.0309505	0.0146	0	0.0003	0.1879	0	0.0014	0.0077	0.0027	0.0131628	2035	154602	rs2274083	0.0054	0.0054	0.0056	0.0053	0.1670	0.0053	0.0053	0.1636	0.1622	5.974e-05	0.0002	0.0140	0.1670	3.786e-05	0.0010	0.0002	0.0060	0.0038	0.0069	0.0070	0.0056	0.0083	0.1785	0.0066	0.0064	0.1689	0.1651	0.0001	0	0.0003	0.0101	0.1785	0	0.0034	0.0004	0.0047	0.0095	0.227	0.18498	T	0.253	0.23501	T	0.001	0.07471	B	0.001	0.04355	B	0.000044	0.53742	D	0.075990	0.999972	0.18612	P	2.005	0.54552	M	-4.58	0.97812	D	0.08	0.06026	N	0.028	0.00717	-0.8292	0.53352	T	0.005	0.01615	T	9	0.0017281473	0.00022	T	.	.	.	0.275	0.59130	.	.	.	.	0.8678752833424769	0.86752	0.0431458183799	0.04650	0.55710464716	0.46858	T	0.492302	0.81631	T	-0.311813	0.07590	T	-0.0768544	0.65133	T	0.0256541232546874	0.01359	T	0.786621	0.42528	T	0.16563806	0.36849	0.15123416	0.35633	0.115492746	0.27252	0.13320166	0.31946	-4.334	0.28651	T	0.11008841477512188	0.09265	0.132	0.28406	B	.;.;.	.;.;.	2.996435	0.40022	21.1	0.90128111114036802	0.19408	0.67256	0.33367	D	AEDBHCIJ	0.308295	0.41492	N	-0.4926003143254	0.22324	1.191154	-0.41438311726541	0.24575	1.346484	0.999999999999985	0.74766	0.764865	0.99124	0	0.61073	0.52368	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	0.431000	0.21163	6.215000	0.55059	0.665000	0.62972	0.018000	0.19461	1.000000	0.68203	0.554000	0.30269	0.0:0.0:0.0:1.0	13.539	0.61123	682	0.59757	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2748.33	41	chr13	20189241	.	T	C	2748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=927;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.551;SOR=0.627	GT:AD:DP:GQ:PL	0/1:101,108:209:99:2762,0,2474	18	0	1	0
chr13	23881762	23881762	G	A	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon3:c.C389T:p.P130L	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.0574843124782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.69	0.94526	H	0.86	0.46777	T	-8.78	0.97757	D	0.837	0.83269	0.012	0.82490	D	0.394	0.74749	T	10	0.88335025	0.87653	D	0.057484	0.66981	D	0.567	0.82346	0.594	0.72371	0.756661512562	0.75445	0.7439662694485222	0.74342	0.216076232132	0.24136	0.627389669418	0.56775	T	0.523751	0.83393	D	0.181964	0.72223	D	0.0236021	0.71863	D	0.997595369815826	0.91939	D	0.962304	0.85835	D	0.78006804	0.82658	0.68488437	0.81473	0.78006804	0.82659	0.68488437	0.81474	-13.62	0.91756	D	0.7630900395073281	0.84474	0.410	0.60122	A	.	.	5.006568	0.83108	28.0	0.99844100278573789	0.92403	0.98758	0.86475	D	AEFDBI	0.845247	0.76217	D	0.915176220350215	0.92482	11.44891	0.820157515577129	0.91157	10.74725	0.999999999754947	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	9.451000	0.96773	11.679000	0.94198	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	17.608	0.87947	539	0.73055	.	.	.	.	.	.	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	615.33	34	chr13	23881762	.	G	A	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=677;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.56;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,23:56:99:629,0,848	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:230,33:263:99:.:.:643,0,9518:.	13	0	6	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|1:211,39:286:99:0|1:25097021_G_T:1052,0,8729:25097021	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|1:220,42:298:99:0|1:25097021_G_T:1151,0,9043:25097021	7	0	12	0
chr13	32443611	32443611	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C881T:p.T294I,N4BP2L2:NM_001320836:exon7:c.C2213T:p.T738I,N4BP2L2:NM_033111:exon7:c.C926T:p.T309I	.	433	1078	11	0	0	11	0.00507614	.	.	.	2342458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00353907260379	0.0004	0.000399361	0.0005	0.0002	0.0012	0	0	0.0006	0	0.0001	0.0004075	63	154602	rs147501500	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0066	0.0059	0.0006	0.0007	0.0003	0	0	0.0085	0.0003	0.0010	8.156e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0005	0.0006	0	0	0.0068	0.0004	0.0005	0	0.453	0.08917	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.035847	0.01809	N	2.099920	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.04	0.01999	-1.0013	0.29545	T	0.030	0.13023	T	9	0.010247409	0.00229	T	0.003539	0.08062	T	0.035	0.08770	.	.	0.183819452728	0.17975	0.01878042727278461	0.01832	0.0367272736908	0.03888	0.284106731415	0.08071	T	0.007495	0.06902	T	-0.648825	0.00074	T	-0.804469	0.01793	T	0.00870696973812581	0.00107	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-3.1	0.11296	T	.	.	0.086	0.13362	B	.;.;.	.;.;.	-0.522266	0.01796	0.139	0.029024223679168716	0.00000	0.03664	0.08924	N	AEFGBCI	0.037159	0.05067	N	-1.79744645951562	0.00551	0.0237378	-1.83496541352349	0.00654	0.02906554	0.999999977980224	0.74766	0.615465	0.37627	0	0.655437	0.61614	1	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.66	-8.19	0.00922	-0.811000	0.04607	-0.812000	0.07330	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2273:0.1216:0.5409:0.1102	6.511	0.21421	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	1	0	1	0	0.010574	0.000000	0.010870	0.046784	0.000000	0.017241	0.003049	0.000000	0.02632	1651.33	44	chr13	32443611	.	G	A	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.547;DP=834;ExcessHet=0;FS=3.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.978;SOR=0.77	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1665,0,2034	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	0/1:61,32:98:73:73,0,1039	6	0	12	1
chr13	42888366	42888366	G	A	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001002264:exon13:c.C1117T:p.R373C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00453552585229	.	.	1.648e-05	0	0	0	0.0002	1.499e-05	0	0	1.29e-05	2	154602	rs764396320	1.573e-05	1.573e-05	1.633e-05	1.513e-05	1.799e-05	1.048e-05	8.75e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	3.312e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.423e-05	0	2.939e-05	0	0	0.108	0.29420	T	.	.	.	0.989	0.62824	D	0.193	0.36509	B	0.002163	0.00864	U	15.549300	1	0.08975	N	.	.	.	.	.	.	-0.34	0.12661	N	0.167	0.17691	-1.0101	0.26886	T	0.033	0.14029	T	8	0.10155988	0.18563	T	0.004536	0.11157	T	0.129	0.35316	0.333	0.32005	0.282179105231	0.27821	0.09781319277770936	0.09712	0.162458877805	0.18328	0.204501956701	0.00599	T	.	.	.	-0.292746	0.09362	T	-0.6428	0.09466	T	0.283552676439285	0.24320	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.591	0.17727	T	.	.	0.149	0.32922	B	.	.	0.109631	0.05093	1.628	0.86226907584464252	0.16396	0.00240	0.01331	N	AEFBI	0.049293	0.08500	N	-0.903153591333003	0.10767	0.5162013	-1.06434812721302	0.08411	0.4134229	0.837176387311245	0.24800	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.53	-2.05	0.06916	0.729000	0.25696	0.245000	0.16356	-1.548000	0.00966	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4115:0.1445:0.1651:0.2789	0.386	0.00374	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1149.33	37	chr13	42888366	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=845;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.358;SOR=0.531	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1163,0,1425	18	0	1	0
chr13	44965895	44965895	A	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.T776C:p.L259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0144087814662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.903e-07	6.157e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.282	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.005665	0.32605	N	0.251292	0.966265	0.38519	D	2.295	0.65404	M	0.85	0.47130	T	-1.99	0.45949	N	0.514	0.54496	-0.6955	0.60652	T	0.249	0.61901	T	10	0.5624459	0.64864	D	0.014409	0.34508	T	0.244	0.55061	0.396	0.42262	0.933169900923	0.93248	0.4243458889454756	0.42351	0.36963300804	0.38492	0.709573328495	0.68531	T	0.162448	0.50711	T	-0.0462581	0.45015	T	-0.304223	0.44277	T	0.983038306236267	0.74855	D	0.738826	0.35731	T	0.087933496	0.20495	0.09190997	0.21632	0.087933496	0.20495	0.09190997	0.21632	-8.196	0.62398	D	.	.	0.619	0.69677	P	.	.	4.401510	0.68008	25.2	0.99859594864487256	0.93820	0.88633	0.48653	D	AEGBI	0.414746	0.48388	N	0.562722688727334	0.70862	5.564027	0.535488571739612	0.70396	5.498846	0.999861258649048	0.44398	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.89	0.63387	4.597000	0.60770	8.089000	0.76512	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.074	0.47240	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	80.83	20	chr13	44965895	.	A	G	80.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.16;DP=540;ExcessHet=0.119;FS=37.455;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.972;SOR=4.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,5:32:78:0|1:44965895_A_G:78,0,1066:44965895	17	0	2	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,5:32:78:0|1:44965895_A_G:78,0,1066:44965895	9	0	5	5
chr13	44965900	44965900	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G771C:p.K257N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0253873447107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.773e-06	0.0001	4.139e-06	1.393e-06	3.632e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.632e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047982	0.790806	0.34384	D	3.075	0.87202	M	0.61	0.53516	T	-3.07	0.63207	D	0.288	0.32591	-0.5372	0.67270	T	0.252	0.62166	T	10	0.30921462	0.48411	T	0.025387	0.48361	D	0.237	0.54074	0.438	0.49157	0.743235531803	0.74093	0.5241263841645443	0.52336	0.0902298067989	0.10174	0.711288809776	0.68780	T	0.310826	0.68275	T	-0.111599	0.34506	T	-0.39808	0.33608	T	0.990731418132782	0.80964	D	0.736726	0.35329	T	0.50261134	0.67248	0.42648375	0.66424	0.50261134	0.67249	0.42648375	0.66424	-6.336	0.49007	T	.	.	0.358	0.57110	A	.	.	2.415787	0.31060	18.63	0.99646254664749256	0.77005	0.10395	0.15914	N	AEFGBI	0.069158	0.13675	N	-0.129840413229396	0.36096	2.081967	-0.315961563612778	0.27583	1.531588	0.949366607212065	0.27843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	-2.77	0.05529	-0.398000	0.07320	-0.821000	0.07295	-0.167000	0.11441	0.099000	0.22773	0.016000	0.20520	0.997000	0.79791	0.0:0.4507:0.0:0.5493	9.189	0.36350	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	57.36	17	chr13	44965900	.	C	G	57.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=424;ExcessHet=0;FS=18.032;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.183;SOR=3.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:71:0|1:44965895_A_G:71,0,1069:44965895	18	0	1	0
chr13	44965903	44965903	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G768C:p.K256N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.079468754605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.256e-06	0.0002	6.919e-06	5.588e-06	2.57e-05	2.94e-06	2.13e-06	2.65e-06	1.71e-06	0	0	0	2.57e-05	0	0	6.375e-06	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048141	0.998998	0.45836	D	3.485	0.92608	M	-0.0	0.62608	T	-4.03	0.74348	D	0.621	0.63628	-0.1080	0.79915	T	0.451	0.78515	T	10	0.7805929	0.77821	D	0.079469	0.73241	D	0.493	0.77910	0.534	0.64293	0.937841110162	0.93719	0.8097941414879597	0.80934	0.341759167531	0.36122	0.73443365097	0.72155	T	0.476975	0.80740	T	0.0379889	0.56782	T	-0.183208	0.56225	T	0.998566806316376	0.94507	D	0.845915	0.52533	T	0.5997311	0.72677	0.4414634	0.67429	0.5997311	0.72678	0.4414634	0.67430	-7.628	0.58506	D	.	.	0.979	0.91004	P	.	.	4.075358	0.60581	24.2	0.99859704594771792	0.93820	0.75947	0.37213	D	AEFGBI	0.127683	0.24514	N	0.589014654832026	0.72490	5.813697	0.489100109564107	0.67266	5.061066	0.995600798420479	0.34219	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.01	0.45821	1.083000	0.30427	1.768000	0.28610	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8802:0.0:0.1198	7.968	0.29270	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	.	.	.	.	.	.	.	.	0.1154	145.49	13	chr13	44965903	.	C	G	145.49	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-0.974;DP=309;ExcessHet=0.3672;FS=90.35;InbreedingCoeff=-0.2387;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.793;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:73:0|1:44965895_A_G:73,0,1065:44965895	10	0	3	6
chr13	52643109	52643109	G	A	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.G617A:p.R206H,HNRNPA1L2:NM_001011724:exon7:c.G617A:p.R206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00669249874089	.	0.000199681	0.0001	0	0	0	0	4.817e-05	0.0012	0.0008	0.0001164	18	154602	rs548762543	6.295e-05	6.499e-05	3.306e-05	9.311e-05	0.0008	5.219e-05	4.834e-05	0.0006	0.0006	0.0001	2.237e-05	3.827e-05	5.038e-05	0	0	9.894e-06	8.312e-05	0.0008	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.812e-05	0	6.534e-05	0	0	0	0	0	0	0.0004	0.2	0.20381	T	0.496	0.11335	T	0.684	0.41517	P	0.018	0.18489	B	.	.	.	.	1	0.08975	N	0.965	0.23975	L	-2.03	0.85613	D	-0.32	0.12283	N	0.168	0.17828	-0.8458	0.52256	T	0.215	0.57705	T	9	0.031853735	0.01326	T	0.006692	0.17671	T	0.206	0.49396	0.528	0.63412	0.399449838166	0.39556	0.37983542677386	0.37898	.	.	0.665757596493	0.62233	T	0.023768	0.18084	T	-0.336158	0.05658	T	-0.356481	0.38461	T	0.0188652581937957	0.00597	T	0.165783	0.01535	T	0.014685242	0.00103	0.028942801	0.01180	0.014685242	0.00103	0.028942801	0.01180	-7.723	0.59167	D	.	.	0.128	0.27192	B	.	.	1.330041	0.17353	13.11	0.25888782320542353	0.01215	0.01189	0.04253	N	AEFBI	0.021245	0.00925	N	-0.874809300367698	0.11444	0.5522998	-0.944506829382682	0.11051	0.5606066	0.734507681748416	0.23107	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.352	0.352	0.15287	-0.024000	0.12382	-1.387000	0.05559	0.181000	0.17804	0.000000	0.06391	0.000000	0.08366	0.408000	0.26961	0.4:0.0:0.6:0.0	2.861	0.05244	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	0.000534	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1004.33	72	chr13	52643109	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=1028;ExcessHet=0;FS=4.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-1.202;QD=15.22;ReadPosRankSum=-1.454;SOR=1.329	GT:AD:DP:GQ:PL	0/1:28,38:66:99:1018,0,654	18	0	1	0
chr13	73059530	73059530	C	A	exonic	KLF5	.	nonsynonymous SNV	KLF5:NM_001730:exon1:c.C203A:p.P68Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0275329614885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.750654	0.09703	N	0.845315	1	0.18612	N	1.59	0.40313	L	3.18	0.07478	T	0.21	0.04776	N	0.181	0.19593	-0.9525	0.40538	T	0.013	0.04890	T	10	0.09219831	0.16214	T	0.027533	0.50329	D	0.069	0.20116	0.154	0.05752	0.215239754934	0.21150	0.18829063812302121	0.18747	0.205374424168	0.22959	0.829085588455	0.86422	D	0.13522	0.46690	T	-0.245632	0.14638	T	-0.59061	0.13612	T	0.0876852199435234	0.10940	T	0.50475	0.15921	T	0.06705457	0.14484	0.13157216	0.31591	0.06705457	0.14483	0.13157216	0.31590	-4.007	0.23909	T	.	.	0.117	0.23640	B	.	.	1.032062	0.14123	10.69	0.77807251804441024	0.12030	0.04139	0.09622	N	AEFDGBHCI	0.075821	0.15237	N	-0.823119004922347	0.12721	0.6218795	-0.754556929450829	0.15610	0.8218627	0.999999999999719	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	3.5	1.52	0.22158	0.172000	0.16518	2.061000	0.30394	0.448000	0.21234	0.002000	0.15269	0.999000	0.35428	0.017000	0.10941	0.1591:0.5726:0.2683:0.0	7.276	0.25460	936	0.14734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.63	4	chr13	73059530	.	C	A	61.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=178;ExcessHet=0;FS=0;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:73059530_C_A:75,0,109:73059530	18	0	1	0
chr13	73059545	73059545	C	A	exonic	KLF5	.	nonsynonymous SNV	KLF5:NM_001730:exon1:c.C218A:p.P73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.159078615875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.754e-07	4.104e-06	0	2.046e-06	1.125e-06	0	0	.	.	0	0	0	0	0	0	1.125e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.509	0.10857	T	0.0	0.02946	B	0.002	0.06944	B	0.711091	0.06258	N	1.174730	1	0.81001	D	1.355	0.33814	L	3.16	0.07711	T	0.44	0.03243	N	0.174	0.18649	-0.9873	0.33273	T	0.014	0.05465	T	10	0.083989054	0.14029	T	0.159079	0.83935	D	0.038	0.09825	0.268	0.21576	0.226560886239	0.22246	0.20850867876756843	0.20766	0.775270139995	0.64992	0.807604849339	0.83125	D	0.140636	0.47527	T	-0.299822	0.08675	T	-0.66845	0.07708	T	0.182854071259499	0.19413	T	0.361564	0.08348	T	0.036969382	0.04650	0.065888606	0.13417	0.036969382	0.04650	0.065888606	0.13417	-4.318	0.28428	T	.	.	0.130	0.27939	B	.	.	-0.123382	0.03505	0.661	0.7725465818373789	0.11800	0.22246	0.21681	N	AEFDGBHCI	0.063472	0.12268	N	-1.04951288359877	0.07597	0.3534499	-0.935861442047483	0.11253	0.5720937	0.9999999999997	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	4.33	1.32	0.20897	-0.713000	0.05110	0.816000	0.21801	-1.696000	0.00764	0.000000	0.06391	0.998000	0.33993	0.003000	0.05239	0.4771:0.3675:0.1554:0.0	7.326	0.25726	936	0.14734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.64	4	chr13	73059545	.	C	A	61.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.524;DP=167;ExcessHet=0;FS=0;InbreedingCoeff=-0.0425;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:73059530_C_A:75,0,109:73059530	18	0	1	0
chr13	95989982	95989982	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon8:c.G922A:p.E308K	.	481	1038	3	0	0	3	0.001443	.	.	.	2341572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.077761313079	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000207	32	154602	rs144698764	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	3.016e-05	9.134e-05	7.746e-05	0	3.804e-05	0.0017	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.551e-05	0.0003	0	0	0.0068	0.0004	0	0.0006	0.005	0.65419	D	0.009	0.66756	D	0.997	0.90584	D	0.926	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.2	0.89116	M	1.49	0.31470	T	-2.2	0.52451	N	0.637	0.72656	-0.3469	0.73643	T	0.282	0.65428	T	10	0.454093	0.58880	T	0.077761	0.72846	D	0.360	0.68052	.	.	0.407357902709	0.40350	0.7285501058951237	0.72799	0.375299811977	0.38983	0.619002223015	0.55588	T	0.014376	0.12250	T	-0.13135	0.31277	T	-0.0859029	0.64468	T	0.303142368793488	0.25133	T	0.855914	0.54393	D	0.54341054	0.69587	0.43556666	0.67038	0.54341054	0.69589	0.43556666	0.67038	-6.845	0.52893	T	.	.	0.466	0.65332	A	.;.	.;.	4.723857	0.76021	26.4	0.998889672635492	0.96359	0.94734	0.62146	D	AEFGI	0.620370	0.60546	D	0.839567151726641	0.88505	9.604193	0.772847654419577	0.87852	9.367107	0.99996777055068	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	2.015000	0.40581	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.485	0.90774	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	972.33	33	chr13	95989982	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=712;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.85;SOR=0.602	GT:AD:DP:GQ:PL	0/1:51,43:94:99:986,0,1267	18	0	1	0
chr13	99970414	99970434	GGCGGCGGCGGCGGCGGCGGC	-	exonic	ZIC5	.	nonframeshift deletion	ZIC5:NM_033132:exon1:c.1242_1262del:p.P418_P424del	.	146	836	5	0	535	540	0.00298151	.	.	.	725540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0130	.	0.0092	0	0.0043	0	0.0015	0.0092	0.0167	0.0153	0.0001153	3	26028	rs774118755	0.0091	0.0066	0.0079	0.0104	0.0476	0.0089	0.0089	0.0455	0.0447	0.0018	0.0298	0.0343	0.0005	0.0085	0.0165	0.0074	0.0106	0.0476	0.0052	0.0048	0.0057	0.0047	0.0130	0.0049	0.0048	0.0100	0.0090	0.0010	0	0.0059	0.0121	0.0006	0.0027	0.0290	0.0075	0.0061	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9738.05	34	chr13	99970413	.	TGGCGGCGGCGGCGGCGGCGGC	T	9738.05	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.135;DP=1133;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=0.249;SOR=0.718	GT:AD:DP:GQ:PL	0/1:0,56:61:99:2476,190,436	17	0	2	0
chr13	99970422	99970422	C	0	exonic	ZIC5	.	.	.	.	80	1344	34	1	63	99	0.0132159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	697.52	34	chr13	99970422	.	C	*	697.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.919;DP=909;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=1.5;SOR=0.68	GT:AD:DP:GQ:PL	0/1:0,56:61:99:2286,0,246	17	0	2	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	0/1:153,53:216:83:83,0,3267	5	0	11	3
chr14	18968008	18968008	T	C	splicing	POTEM	NM_001145442:exon1:c.521+2T>C	.	.	.	.	.	.	.	.	.	.	0.9263	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438193924	3.339e-06	6.295e-06	3.338e-06	3.341e-06	0.0003	7.8e-07	5.3e-07	.	.	3.933e-05	0	0	0	0	0.0003	1.126e-06	0	1.29e-05	0	6.581e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994464	0.23512	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.398751	0.02359	T	-0.810554	0.01653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.147278	0.42591	21.6	0.86766911013387182	0.16758	0.39936	0.26324	N	AEFI	.	.	.	0.333256567452303	0.57863	3.955417	-0.0362131689225817	0.38092	2.239405	2.15982679078891E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0481084	0.07394	1.27	1.27	0.20595	2.121000	0.41601	.	.	0.304000	0.19002	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.0:1.0	4.725	0.12314	.	.	.	.	.	.	.	.	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	112.33	24	chr14	18968008	.	T	C	112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.22;MQRankSum=0.579;QD=4.01;ReadPosRankSum=-2.257;SOR=0.243	GT:AD:DP:GQ:PL	0/1:21,7:28:99:126,0,545	18	0	1	0
chr14	19433767	19433767	A	G	splicing	POTEG	NM_001005356:exon1:c.521+2T>C	.	.	.	.	.	.	.	.	.	.	0.9263	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463959230	1.374e-06	8.209e-06	2.731e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982341	0.24971	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383574	0.02957	T	-0.788754	0.02199	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.102007	0.41810	21.4	0.8676017515834209	0.16754	0.38094	0.25911	N	AEFI	.	.	.	0.34216833578208	0.58328	4.004302	-0.027284806929977	0.38486	2.268208	2.15982679078891E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0480346	0.07359	1.27	1.27	0.20595	2.536000	0.45351	4.785000	0.44861	0.336000	0.19692	0.997000	0.40164	0.999000	0.35428	0.075000	0.16954	1.0:0.0:0.0:0.0	4.725	0.12314	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	261.33	91	chr14	19433767	.	A	G	261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.77;DP=1796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.18;MQRankSum=3.22;QD=1.38;ReadPosRankSum=0.512;SOR=0.031	GT:AD:DP:GQ:PL	0/1:162,28:190:99:275,0,4262	18	0	1	0
chr14	19975592	19975592	T	G	exonic	OR4K15	.	nonsynonymous SNV	OR4K15:NM_001005486:exon1:c.T74G:p.M25R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0045	0.00459265	0.0014	0.0151	0.0004	0	0	4.505e-05	0	6.059e-05	0.0012872	199	154602	rs139828094	0.0003	0.0003	0.0004	0.0003	0.0118	0.0003	0.0003	0.0109	0.0105	0.0118	0.0006	0	0	0	0.0007	1.08e-05	0.0010	2.319e-05	0.0038	0.0038	0.0043	0.0034	0.0135	0.0036	0.0035	0.0126	0.0122	0.0135	0	0.0010	0	0	0	0	2.941e-05	0.0019	0	0.008	0.58626	D	0.011	0.64786	D	0.993	0.65571	D	0.951	0.68939	D	0.000058	0.53742	D	0.000000	0.998776	0.21918	N	2.59	0.75718	M	4.92	0.01404	T	-4.62	0.79143	D	0.664	0.67304	-1.0528	0.13628	T	0.009	0.03140	T	10	0.006589651	0.00149	T	.	.	.	0.066	0.19193	.	.	0.413450081142	0.40960	0.5271966225271043	0.52643	0.243466364465	0.26849	0.386494606733	0.23174	T	0.029425	0.21087	T	-0.542398	0.00324	T	-0.540217	0.18274	T	0.0730536784590466	0.09073	T	0.9	0.65058	D	0.6567227	0.75723	0.60233015	0.76892	0.6567227	0.75724	0.60233015	0.76893	-5.025	0.37110	T	.	.	0.090	0.12418	B	.;.	.;.	3.936393	0.57567	23.9	0.98086311083286604	0.38149	0.29794	0.23915	N	AEFI	0.078089	0.15749	N	0.35700568538095	0.59109	4.087836	0.183128295836211	0.48923	3.101882	0.075181260495965	0.15688	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	1.98	0.25351	1.846000	0.38929	2.686000	0.34052	0.605000	0.46263	0.893000	0.31264	1.000000	0.68203	0.980000	0.58198	0.2303:0.1328:0.0:0.6369	2.600	0.04569	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001720	0.000000	0.002740	0.004310	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	67	chr14	19975592	.	T	G	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.557;DP=813;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.388;SOR=0.796	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1296,0,1354	18	0	1	0
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	0/1:68,52:120:99:1084,0,1577	17	0	2	0
chr14	23042370	23042370	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G145A:p.G49S	.	422	1087	12	1	0	14	0.00639854	.	.	.	702814	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.729	.	0.0044	0.00838658	0.0075	0.0010	0.0034	0.0227	0.0116	0.0080	0.0100	0.0027	0.0073608	1138	154602	rs34457782	0.0071	0.0071	0.0071	0.0071	0.0256	0.0070	0.0069	0.0243	0.0238	0.0011	0.0034	0.0037	0.0256	0.0135	0.0062	0.0069	0.0070	0.0022	0.0060	0.0060	0.0061	0.0058	0.0274	0.0057	0.0055	0.0238	0.0224	0.0014	0.0022	0.0045	0.0043	0.0274	0.0114	0.0136	0.0069	0.0090	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.045	0.97016	H	-0.83	0.74159	T	-5.54	0.86149	D	0.919	0.92200	0.364	0.88549	D	0.482	0.80230	T	10	0.015518874	0.00326	T	.	.	.	0.729	0.90501	.	.	0.866298555364	0.86500	0.8804463649467902	0.88012	0.606206283353	0.55474	0.699628949165	0.67090	T	0.337988	0.70730	T	0.0627332	0.59955	T	0.334921	0.89713	D	0.0990738712007421	0.12255	T	0.999355	0.99761	D	0.8976179	0.91171	0.8813787	0.93659	0.8976179	0.91172	0.8813787	0.93659	-10.849	0.78823	D	.	.	0.567	0.67488	P	.	.	4.668839	0.74591	26.2	0.99871181506189666	0.94902	0.98998	0.89743	D	AEFDBI	0.877648	0.80243	D	0.948043336876363	0.93906	12.36122	0.840108728278102	0.92425	11.41898	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	8.961000	0.92959	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:0.0:1.0:0.0	17.980	0.89060	798	0.45050	.	.	.	.	.	.	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	0.008560	0.005051	0.004076	0.002924	0.000000	0.008621	0.009146	0.015152	0.05263	3153.83	35	chr14	23042370	.	G	A	3153.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.39;DP=892;ExcessHet=0.119;FS=3.363;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=2.94;SOR=0.891	GT:AD:DP:GQ:PL	0/1:80,63:143:99:1499,0,1953	17	0	2	0
chr14	24268417	24268417	C	A	exonic	RABGGTA	.	nonsynonymous SNV	RABGGTA:NM_004581:exon10:c.G1010T:p.R337L,RABGGTA:NM_182836:exon11:c.G1010T:p.R337L	.	417	1104	1	0	0	1	0.000452694	.	.	.	3318866	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0122506537848	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200570806	7.527e-06	7.524e-06	5.447e-06	9.629e-06	2.319e-05	4.04e-06	2.95e-06	3.85e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	2.413e-05	8.14e-06	5.14e-06	.	.	2.413e-05	0.0022	0	0	0	0	0	1.47e-05	0	0	0.499	0.07772	T	0.781	0.04316	T	0.001	0.07471	B	0.005	0.11217	B	0.038549	0.24273	N	0.482934	1	0.18198	N	1.7	0.43825	L	0.75	0.50192	T	-0.94	0.25118	N	0.616	0.63204	-1.0009	0.29660	T	0.068	0.28013	T	10	0.3938558	0.55085	T	0.012251	0.30654	T	0.074	0.21613	0.648	0.78542	0.336400405673	0.33241	0.4516892143027176	0.45086	0.188190179507	0.21148	0.229841053486	0.01956	T	0.191272	0.54606	T	-0.181115	0.23569	T	-0.497935	0.22562	T	0.12055379897356	0.14484	T	.	.	.	0.051557302	0.09486	0.051470518	0.08289	0.051557302	0.09486	0.051470518	0.08289	-3.133	0.11679	T	.	.	0.152	0.33687	B	.;.	.;.	1.482991	0.19090	14.08	0.82827491468978487	0.14396	0.42623	0.26919	N	AEFBI	0.279379	0.39344	N	-1.33967211042599	0.03233	0.1440783	-1.32897847062529	0.04060	0.1907241	0.999791792777871	0.43153	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.54	-2.51	0.05996	0.518000	0.22554	-4.530000	0.02110	-0.942000	0.02081	0.097000	0.22731	0.000000	0.08366	0.452000	0.27939	0.1102:0.3929:0.0:0.4969	7.065	0.24324	871	0.31377	Rab geranylgeranyltransferase, alpha subunit, insert-domain|Rab geranylgeranyltransferase, alpha subunit, insert-domain;Rab geranylgeranyltransferase, alpha subunit, insert-domain|Rab geranylgeranyltransferase, alpha subunit, insert-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	1048.33	38	chr14	24268417	.	C	A	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=765;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-1.419;SOR=0.428	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1062,0,1442	18	0	1	0
chr14	24325470	24325470	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon14:c.G1730A:p.R577Q,ADCY4:NM_001198592:exon15:c.G1730A:p.R577Q,ADCY4:NM_139247:exon15:c.G1730A:p.R577Q	.	.	.	.	.	.	.	.	.	.	.	2209602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.108458743374	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150810366	6.158e-06	6.156e-06	9.532e-06	2.751e-06	2.519e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.196e-06	0	0	1.317e-05	1.314e-05	2.574e-05	0	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	0.019	0.50132	D	0.068	0.44106	T	1.0	0.90584	D	0.997	0.86255	D	0.002874	0.35804	N	0.000000	0.999996	0.58761	D	2.66	0.77858	M	-1.18	0.78314	T	-2.83	0.59710	D	0.581	0.60241	0.035	0.82959	D	0.575	0.84667	D	10	0.69527954	0.72104	D	0.108459	0.78499	D	0.445	0.74727	0.376	0.38994	0.949049214399	0.94851	0.4899096463149414	0.48910	0.862312818367	0.69017	0.48653614521	0.36958	T	0.807043	0.95138	D	0.169988	0.71122	D	0.00639917	0.70750	D	0.976173937320709	0.71261	D	.	.	.	0.2743925	0.50505	0.20960648	0.45313	0.2743925	0.50505	0.20960648	0.45312	-6.973	0.53836	T	.	.	0.219	0.44885	B	.;.;.	.;.;.	5.153979	0.86338	28.9	0.99953012220164272	0.99957	0.98248	0.80913	D	AEFBI	0.726751	0.67531	D	0.592078507961483	0.72681	5.843916	0.551641829232195	0.71512	5.666029	0.999999998586428	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.590023	0.30420	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	3.633000	0.54036	7.579000	0.60911	0.599000	0.40250	0.860000	0.30612	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	15.792	0.78141	856	0.34373	Adenylate cyclase, conserved domain;Adenylate cyclase, conserved domain;Adenylate cyclase, conserved 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	943.33	41	chr14	24325470	.	C	T	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=704;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.366;SOR=1.053	GT:AD:DP:GQ:PL	0/1:43,37:80:99:957,0,986	18	0	1	0
chr14	39294020	39294020	G	T	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001354140:exon6:c.G276T:p.R92S,MIA2:NM_001354147:exon6:c.G351T:p.R117S,MIA2:NM_001354149:exon6:c.G351T:p.R117S,MIA2:NM_001354153:exon6:c.G438T:p.R146S,MIA2:NM_001354156:exon6:c.G198T:p.R66S,MIA2:NM_001354157:exon6:c.G438T:p.R146S,MIA2:NM_001247988:exon7:c.G429T:p.R143S,MIA2:NM_001247989:exon7:c.G531T:p.R177S,MIA2:NM_001247990:exon7:c.G291T:p.R97S,MIA2:NM_001354137:exon7:c.G429T:p.R143S,MIA2:NM_001354138:exon7:c.G429T:p.R143S,MIA2:NM_001354139:exon7:c.G429T:p.R143S,MIA2:NM_001354141:exon7:c.G276T:p.R92S,MIA2:NM_001354142:exon7:c.G276T:p.R92S,MIA2:NM_001354143:exon7:c.G276T:p.R92S,MIA2:NM_001354144:exon7:c.G276T:p.R92S,MIA2:NM_001354145:exon7:c.G276T:p.R92S,MIA2:NM_001354146:exon7:c.G480T:p.R160S,MIA2:NM_001354148:exon7:c.G429T:p.R143S,MIA2:NM_001354150:exon7:c.G498T:p.R166S,MIA2:NM_001354154:exon7:c.G516T:p.R172S,MIA2:NM_001354155:exon7:c.G516T:p.R172S,MIA2:NM_005930:exon7:c.G516T:p.R172S,MIA2:NM_203354:exon7:c.G480T:p.R160S,MIA2:NM_203355:exon7:c.G516T:p.R172S,MIA2:NM_203356:exon7:c.G429T:p.R143S,MIA2:NM_001354151:exon8:c.G543T:p.R181S,MIA2:NM_001354152:exon8:c.G543T:p.R181S,MIA2:NM_001329214:exon12:c.G2340T:p.R780S	.	554	962	5	1	0	7	0.00362506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0408521117156	0.0002	0.000199681	0.0008	0	0	0.0001	0.0012	0.0009	0	0.0021	0.0007438	115	154602	rs141828907	0.0008	0.0008	0.0007	0.0008	0.0028	0.0007	0.0007	0.0021	0.0020	6.006e-05	0.0002	0.0009	2.537e-05	0.0018	0.0028	0.0006	0.0011	0.0024	0.0005	0.0006	0.0007	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0002	0.0014	0	0.0010	0	0.0008	0	0.0010	0.86	0.09075	T	0.136	0.37173	T	.	.	.	.	.	.	0.217396	0.16219	N	0.451973	0.882401	0.28026	N	.	.	.	1.54	0.82533	T	-2.17	0.50012	N	0.186	0.24634	-0.8255	0.53588	T	0.299	0.67045	T	9	0.008297265	0.00188	T	0.040852	0.59608	D	0.018	0.03083	0.281	0.23642	0.563581552253	0.56021	0.04630270722287728	0.04574	0.0114451723269	0.01075	0.354276537895	0.18549	T	0.053472	0.29454	T	-0.34649	0.04951	T	-0.276962	0.47115	T	0.00461966723313212	0.00049	T	0.563744	0.21881	T	0.108352624	0.25619	0.10689241	0.25724	0.108352624	0.25619	0.10689241	0.25724	-6.48	0.63304	T	.	.	0.276	0.52945	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.657755	0.34622	19.68	0.91794765369610054	0.21100	0.58998	0.30794	D	AEFBI	0.162275	0.28843	N	-0.704586010814977	0.15892	0.8049759	-0.584658358569598	0.19892	1.069347	0.379280548916065	0.19945	0.615465	0.37627	0	0.601575	0.49859	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.15	2.27	0.27501	0.518000	0.22554	1.226000	0.25010	-0.244000	0.07312	0.970000	0.34288	0.694000	0.26193	0.920000	0.45560	0.2566:0.1565:0.5869:0.0	4.877	0.13020	816	0.41767	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1081.33	33	chr14	39294020	.	G	T	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=686;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.632;SOR=0.551	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1095,0,824	18	0	1	0
chr14	49622001	49622001	G	C	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.G733C:p.V245L	Congenital disorder of glycosylation, type IIa, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	99964	not_provided|MGAT2-congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.229	0.0199436626708	0.0013	0.000998403	0.0010	0.0003	0.0004	0	0.0002	0.0017	0.0011	0	0.0010802	167	154602	rs117536357	0.0016	0.0016	0.0017	0.0015	0.0031	0.0015	0.0015	0.0020	0.0018	0.0002	0.0004	0.0015	0	0.0003	0.0031	0.0019	0.0020	0.0002	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0002	0	0.0005	0.0020	0.0002	0.0003	0	0.0017	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.048	0.24975	B	0.000007	0.62929	D	0.063687	0.791012	0.34387	D	0.63	0.15941	N	-1.53	0.81559	D	0.84	0.01761	N	0.149	0.15187	-0.8085	0.54641	T	0.201	0.55794	T	10	0.012908131	0.00276	T	0.019944	0.42426	T	0.229	0.52916	0.528	0.63412	0.409069985131	0.40521	0.6776415797987517	0.67703	0.385980496119	0.39890	0.539225935936	0.44335	T	0.354362	0.72152	T	-0.306802	0.08033	T	-0.218403	0.52891	T	0.0525907724542399	0.05949	T	0.838916	0.51225	T	0.20110214	0.42109	0.11936707	0.28813	0.20110214	0.42109	0.11936707	0.28812	-3.15	0.11879	T	0.1277819858554375	0.13138	0.329	0.55180	B	.	.	2.784502	0.36587	20.3	0.88429445635511594	0.17969	0.78914	0.39009	D	AEFDBCI	0.751854	0.69253	D	-0.368750667458335	0.26589	1.452256	-0.108540859489874	0.35046	2.022882	0.999999613823645	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	6.0	5.11	0.69188	4.343000	0.59128	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0695:0.1281:0.67:0.1324	6.600	0.21892	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	5622.33	37	chr14	49622001	.	G	C	5622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1100;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.411;SOR=0.805	GT:AD:DP:GQ:PL	0/1:230,224:454:99:5636,0,5552	18	0	1	0
chr14	54538305	54538305	G	A	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon6:c.G921A:p.M307I	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00841996033532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.10730	T	0.429	0.13752	T	0.002	0.09854	B	0.003	0.08700	B	0.000000	0.84330	N	0.132682	0.924793	0.36786	D	-0.71	0.01811	N	0.33	0.58323	T	-1.57	0.37955	N	0.242	0.27316	-1.0007	0.29717	T	0.058	0.24354	T	10	0.1394273	0.26511	T	0.00842	0.22282	T	0.072	0.21020	0.446	0.50466	0.328222422547	0.32431	0.285345542659043	0.28447	0.0952479098463	0.10753	0.436008542776	0.30031	T	0.012257	0.10804	T	-0.13987	0.29911	T	-0.43869	0.28956	T	0.517722189426422	0.33281	D	0.788921	0.42853	T	0.18401185	0.39696	0.14656495	0.34717	0.18401185	0.39696	0.14656495	0.34716	-4.902	0.35757	T	.	.	0.522	0.65590	A	.	.	2.264309	0.28933	17.96	0.95358605138983965	0.26754	0.62572	0.31822	D	AEFDGBCI	0.396688	0.47306	N	-0.576517491254029	0.19659	1.030654	-0.31166867537478	0.27721	1.540251	0.99999957039216	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.48	0.53973	3.183000	0.50619	11.834000	0.97615	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.734000	0.35233	0.15:0.0:0.85:0.0	10.132	0.41861	810	0.42761	Zinc finger, RING-type|Zinc finger, RING-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	1189.33	33	chr14	54538305	.	G	A	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=725;ExcessHet=0;FS=2.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.408;SOR=1.015	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1203,0,1560	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	0/1:44,21:65:55:55,0,764	3	0	16	0
chr14	59985162	59985162	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon17:c.G2149A:p.G717R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0590235083667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.487	0.11656	T	.	.	.	.	.	.	.	.	.	.	0.503812	0.31763	D	.	.	.	1.93	0.22881	T	-2.17	0.49018	N	0.433	0.47208	.	.	.	.	.	.	.	0.2680704	0.44324	T	0.059024	0.67521	D	.	.	.	.	0.549460442827	0.54601	0.5867825390884617	0.58608	.	.	.	.	.	0.009155	0.08356	T	-0.100003	0.36423	T	-0.381424	0.35556	T	.	.	.	0.737326	0.35372	T	0.13236158	0.30823	0.2226657	0.47118	0.13236158	0.30823	0.2226657	0.47117	-10.076	0.74366	D	.	.	0.447	0.62063	A	.;.	.;.	3.642305	0.51655	23.1	0.99912023357242985	0.98095	0.90343	0.51443	D	AEFI	0.574492	0.57725	D	.	.	.	.	.	.	7.95107987178767E-4	0.07826	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	4.49	0.54177	3.863000	0.55728	6.547000	0.55900	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.7828:0.1423	9.724	0.39484	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	1140.33	36	chr14	59985162	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.581;SOR=0.743	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1154,0,1831	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	0/1:81,32:113:99:.:.:110,0,1353:.	2	0	15	2
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	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	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05263	2296.83	33	chr14	67783430	.	C	T	2296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=818;ExcessHet=0.119;FS=0.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.28;SOR=0.755	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1502,0,1452	17	0	2	0
chr14	69209598	69209598	C	T	exonic	EXD2	.	nonsynonymous SNV	EXD2:NM_001193361:exon2:c.C128T:p.P43L,EXD2:NM_001193363:exon2:c.C128T:p.P43L,EXD2:NM_001193360:exon3:c.C128T:p.P43L,EXD2:NM_001193362:exon3:c.C128T:p.P43L	.	436	1076	10	0	0	10	0.00462535	.	.	.	2275994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0094930447176	.	.	6.05e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs752389207	9.654e-05	9.235e-05	9.596e-05	9.715e-05	0.0023	8.319e-05	7.769e-05	0.0013	0.0011	3.165e-05	0.0015	0	0	0	0.0023	3.707e-05	0.0003	0.0001	6.575e-05	6.567e-05	8.996e-05	4.039e-05	0.0003	3.519e-05	2.618e-05	0.0001	8.299e-05	2.415e-05	0	0.0003	0	0	0	0	5.881e-05	0	0	0.142	0.25457	T	0.336	0.18232	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.61	0.41143	L	-0.91	0.75001	T	-0.48	0.15379	N	0.094	0.07398	-1.0010	0.29631	T	0.158	0.49161	T	9	0.018281192	0.00396	T	0.009493	0.24855	T	0.072	0.21020	.	.	0.230578612272	0.22657	0.20792532397666824	0.20708	0.157749596145	0.17814	0.216754704714	0.01131	T	0.007317	0.06733	T	-0.499425	0.00576	T	-0.525544	0.19735	T	0.00205012292896989	0.00021	T	0.548145	0.18826	T	0.021765577	0.00797	0.022354342	0.00262	0.021765577	0.00797	0.022354342	0.00262	-3.387	0.14882	T	.	.	0.074	0.05017	B	.;.	.;.	-0.334824	0.02468	0.285	0.58285173748377239	0.05958	0.01800	0.05617	N	AEFGBI	0.033934	0.04114	N	-1.45190806788078	0.02202	0.09695731	-1.52888029519639	0.02125	0.09725158	0.978065255339809	0.29883	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.9	-6.18	0.01906	-1.773000	0.01883	0.211000	0.15962	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2605:0.4907:0.1567:0.0921	4.093	0.09451	865	0.32612	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	840.33	33	chr14	69209598	.	C	T	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=-2.126;SOR=0.65	GT:AD:DP:GQ:PL	0/1:75,40:115:99:854,0,1904	18	0	1	0
chr14	73251775	73251775	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon8:c.G782A:p.G261E,PAPLN:NM_173462:exon8:c.G701A:p.G234E,PAPLN:NM_001365906:exon9:c.G782A:p.G261E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0733793491446	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1433536565	1.302e-05	1.3e-05	9.549e-06	1.654e-05	0.0002	8.33e-06	6.71e-06	5.76e-06	4.55e-06	0	2.271e-05	0	0	0	0.0002	1.08e-05	4.977e-05	2.325e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999898	0.50595	D	2.185	0.61350	M	-0.06	0.63568	T	-7.02	0.93786	D	0.675	0.68690	-0.2123	0.77353	T	0.391	0.74539	T	9	0.8815023	0.87462	D	0.073379	0.71774	D	0.592	0.83747	.	.	0.643794017197	0.64084	0.5989917592201827	0.59830	0.852657241557	0.68610	0.717287063599	0.69652	T	0.055787	0.30103	T	0.265341	0.80019	D	0.233098	0.84820	D	0.942513883113861	0.61678	D	0.90061	0.65471	D	0.58487433	0.71874	0.59733176	0.76617	0.58487433	0.71875	0.59733176	0.76618	-11.572	0.82704	D	.	.	0.372	0.58546	A	.;.;.;.	.;.;.;.	4.629510	0.73586	26.0	0.99830446136636652	0.91198	0.97608	0.75872	D	AEFDBCI	0.934609	0.92823	D	0.728969479596118	0.81532	7.544273	0.693086033931177	0.81855	7.62499	0.999999999975794	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.622129	0.49086	0	.	.	4.77	4.77	0.60425	9.912000	0.98686	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	17.413	0.87384	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 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	1203.33	33	chr14	73251775	.	G	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=730;ExcessHet=0;FS=1.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.449;SOR=0.542	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1217,0,1546	18	0	1	0
chr14	74260600	74260600	A	G	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon5:c.A767G:p.H256R	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.368702251261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-3.22	0.93352	D	-7.79	0.95897	D	0.774	0.77132	0.783	0.94206	D	0.843	0.94753	D	10	0.8833517	0.87653	D	0.368702	0.92692	D	0.756	0.91668	0.363	0.36874	0.94806301202	0.94752	0.6880629616102394	0.68746	0.517063166521	0.49585	0.900497615337	0.96496	D	0.800993	0.94926	D	0.287065	0.81912	D	0.174572	0.81679	D	0.999006927013397	0.95858	D	0.831417	0.49863	T	0.9107018	0.92360	0.8661791	0.92603	0.9107018	0.92361	0.8661791	0.92603	-14.381	0.94229	D	0.5525977982605903	0.62105	0.990	0.93663	P	.	.	5.161832	0.86488	28.9	0.99645123194412455	0.76943	0.99224	0.93061	D	AEFDBI	0.895571	0.83573	D	0.63733168458961	0.75552	6.326062	0.591824284882662	0.74350	6.122485	0.999983620575	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.93	3.78	0.42629	8.735000	0.91247	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.672	0.44961	577	0.69927	CVC 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	755.33	33	chr14	74260600	.	A	G	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.444;SOR=0.576	GT:AD:DP:GQ:PL	0/1:31,31:62:99:769,0,771	18	0	1	0
chr14	74290428	74290428	G	C	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon9:c.C401G:p.P134R,ABCD4:NM_001353607:exon9:c.C401G:p.P134R,ABCD4:NM_001353594:exon10:c.C878G:p.P293R,ABCD4:NM_001353597:exon10:c.C725G:p.P242R,ABCD4:NM_001353598:exon10:c.C713G:p.P238R,ABCD4:NM_001353601:exon10:c.C713G:p.P238R,ABCD4:NM_001353603:exon10:c.C401G:p.P134R,ABCD4:NM_001353606:exon10:c.C401G:p.P134R,ABCD4:NM_001353608:exon10:c.C401G:p.P134R,ABCD4:NM_001353591:exon11:c.C1064G:p.P355R,ABCD4:NM_001353592:exon11:c.C1064G:p.P355R,ABCD4:NM_001353593:exon11:c.C929G:p.P310R,ABCD4:NM_001353596:exon11:c.C776G:p.P259R,ABCD4:NM_001353599:exon11:c.C713G:p.P238R,ABCD4:NM_001353600:exon11:c.C713G:p.P238R,ABCD4:NM_001353602:exon11:c.C401G:p.P134R,ABCD4:NM_001353605:exon11:c.C401G:p.P134R,ABCD4:NM_001353609:exon11:c.C401G:p.P134R,ABCD4:NM_001353610:exon11:c.C401G:p.P134R,ABCD4:NM_020324:exon11:c.C713G:p.P238R,ABCD4:NM_001353595:exon12:c.C776G:p.P259R,ABCD4:NM_005050:exon12:c.C1190G:p.P397R,ABCD4:NM_020325:exon12:c.C1190G:p.P397R	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2056929	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.828	0.379712862448	.	.	8.238e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs749168282	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	1.872e-05	0	1.799e-06	0	0	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	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	-2.74	0.90735	D	-7.51	0.95074	D	0.879	0.87699	0.945	0.96321	D	0.992	0.99807	D	10	0.8563792	0.84836	D	0.379713	0.92942	D	0.828	0.94541	0.351	0.34922	0.986997563407	0.98685	0.858861411421415	0.85849	0.911145040712	0.71068	0.495827406645	0.38247	T	0.35438	0.72154	T	0.406988	0.90310	D	0.429699	0.93039	D	0.997445583343506	0.91570	D	0.861914	0.55630	D	0.8236793	0.85469	0.72134256	0.83546	0.8236793	0.85470	0.72134256	0.83547	-11.749	0.83607	D	.	.	0.777	0.76255	P	.	.	4.800817	0.77998	26.8	0.99844640210512225	0.92489	0.98104	0.79632	D	AEFGBCI	0.924341	0.90223	D	0.773431950494323	0.84421	8.282847	0.710794056593098	0.83198	7.959323	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	4.84	4.84	0.62125	9.294000	0.95180	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.569000	0.30626	0.0:0.0:1.0:0.0	18.139	0.89564	495	0.76383	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	35	chr14	74290428	.	G	C	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.976;DP=726;ExcessHet=0;FS=6.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.685;SOR=0.981	GT:AD:DP:GQ:PL	0/1:49,39:88:99:856,0,1277	18	0	1	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R,TTC8:NM_001366536:exon3:c.A254G:p.K85R,TTC8:NM_001288781:exon4:c.A254G:p.K85R,TTC8:NM_144596:exon4:c.A284G:p.K95R,TTC8:NM_198309:exon4:c.A254G:p.K85R,TTC8:NM_198310:exon4:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	0	1473	45	4	0	53	0.0176726	.	.	.	193761	not_provided|Bardet-Biedl_syndrome_8|not_specified|Retinitis_pigmentosa|Bardet-Biedl_syndrome	MedGen:C3661900|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.025253	0.012228	0.017544	0.050000	0.000000	0.006098	0.022727	0.07895	16866.8	33	chr14	88840883	.	A	G	16866.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=1409;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.35;ReadPosRankSum=-0.412;SOR=0.714	GT:AD:DP:GQ:PL	0/1:200,193:393:99:4654,0,4617	17	1	1	0
chr14	90298366	90298366	T	G	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon8:c.A1560C:p.E520D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.0417545812685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231325232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.0	0.91255	D	0.032	0.53426	D	1.0	0.90584	D	0.981	0.75168	D	0.000003	0.62929	D	0.058480	0.999999	0.58761	D	3.35	0.91085	M	1.4	0.33630	T	-2.6	0.59226	D	0.854	0.85027	-0.7963	0.55362	T	0.194	0.54725	T	10	0.44373363	0.58264	T	0.041755	0.60099	D	0.388	0.70440	0.537	0.64730	0.592197217354	0.58896	0.6311061145513757	0.63044	0.373551147566	0.38820	0.656823992729	0.60956	T	0.168594	0.51565	T	0.0301577	0.55744	T	-0.194457	0.55172	T	0.992231607437134	0.82666	D	0.919908	0.71037	D	0.6905756	0.77543	0.53555435	0.73162	0.6905756	0.77544	0.53555435	0.73162	-7.368	0.56679	T	.	.	0.960	0.88427	P	.;.	.;.	3.369779	0.46563	22.3	0.99839881912860196	0.92057	0.83007	0.42163	D	AEFBHCI	0.310649	0.41661	N	0.275789771940539	0.54925	3.657024	0.217863800508383	0.50837	3.271803	0.999974329020824	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.8	2.99	0.33673	0.815000	0.26910	0.376000	0.17729	-0.173000	0.11020	1.000000	0.71638	0.994000	0.32194	0.923000	0.45890	0.0:0.6651:0.0:0.3349	8.450	0.32024	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	789.33	33	chr14	90298366	.	T	G	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=667;ExcessHet=0;FS=3.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.916;SOR=1.329	GT:AD:DP:GQ:PL	0/1:31,31:62:99:803,0,678	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	0/1:75,64:139:99:766,0,1118	1	0	17	1
chr14	95108460	95108460	G	A	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon14:c.C2300T:p.P767L,DICER1:NM_001271282:exon15:c.C2300T:p.P767L,DICER1:NM_001291628:exon15:c.C2300T:p.P767L,DICER1:NM_177438:exon15:c.C2300T:p.P767L,DICER1:NM_030621:exon17:c.C2300T:p.P767L	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	.	.	.	.	.	.	.	.	.	1011325	DICER1-related_tumor_predisposition	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0140039447342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.39820	T	0.009	0.67890	D	0.007	0.14184	B	0.003	0.08700	B	0.000002	0.62929	D	0.102208	1	0.81001	D	1.545	0.39105	L	0.25	0.59449	T	-4.95	0.81910	D	0.539	0.59223	-0.9587	0.39424	T	0.172	0.51484	T	10	0.39688158	0.55289	T	0.014004	0.33816	T	0.282	0.59981	0.403	0.43408	0.821663004155	0.81998	0.6332299385704449	0.63256	0.554114867247	0.52161	0.644695520401	0.59231	T	0.835376	0.96110	D	0.112925	0.65653	D	-0.0755678	0.65226	T	0.98717737197876	0.77723	D	0.960104	0.84924	D	0.29814208	0.52738	0.4434339	0.67560	0.29814208	0.52738	0.4434339	0.67560	-8.987	0.67613	D	0.41923108898755945	0.50826	0.102	0.18037	B	.;.;.;.;.	.;.;.;.;.	4.836593	0.78926	27.0	0.99104039199946192	0.52546	0.97700	0.76507	D	AEFDGBI	0.635213	0.61481	D	0.106067338585429	0.46746	2.910267	0.308221832932014	0.56021	3.765129	0.999999976748998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.416000	0.73240	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.096	0.97848	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	2020.33	33	chr14	95108460	.	G	A	2020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=816;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.122;SOR=0.56	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2034,0,1707	18	0	1	0
chr14	101809992	101809992	A	G	exonic	PPP2R5C	.	nonsynonymous SNV	PPP2R5C:NM_001352912:exon1:c.A50G:p.N17S,PPP2R5C:NM_002719:exon1:c.A50G:p.N17S,PPP2R5C:NM_178586:exon1:c.A50G:p.N17S,PPP2R5C:NM_178587:exon1:c.A50G:p.N17S	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00476706594794	0.0002	0.000599042	0.0004	0	0	0	0	0.0001	0.0033	0.0024	0.000401	62	154602	rs143316004	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0022	0.0020	0	0	0	0	3.744e-05	0.0005	0.0001	0.0003	0.0024	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.249e-05	0.0019	0.0016	2.412e-05	0	0	0	0	0	0	0.0001	0.0005	0.0031	0.426	0.28772	T	0.832	0.92824	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	-0.3	0.03631	N	1.02	0.40749	T	-0.15	0.46337	N	0.125	0.21319	-1.0382	0.17863	T	0.037	0.15813	T	9	0.006241113	0.00141	T	0.004767	0.11910	T	0.069	0.20116	.	.	0.422413330959	0.41862	.	.	.	.	.	.	.	0.003541	0.04592	T	-0.611695	0.00124	T	-0.656671	0.08493	T	0.0499143465834089	0.05485	T	0.875712	0.59309	D	0.040288653	0.05722	0.1180873	0.28506	0.040288653	0.05722	0.1180873	0.28505	-2.32	0.06190	T	0.1201505841588372	0.11270	0.054	0.06114	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.372554	0.17831	13.39	0.78672526710260315	0.12402	0.65588	0.32788	D	ALL	0.147032	0.27062	N	-0.795884030687204	0.13417	0.6607974	-0.625635770915684	0.18835	1.007959	0.999999999995616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	-2.34	0.06321	0.512000	0.22461	0.070000	0.14249	0.756000	0.94297	0.990000	0.36992	0.178000	0.23398	1.000000	0.97212	0.5858:0.0:0.4142:0.0	11.109	0.47442	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1247.33	37	chr14	101809992	.	A	G	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.581;DP=744;ExcessHet=0;FS=3.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.176;SOR=0.415	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1261,0,1164	18	0	1	0
chr14	102452549	102452549	G	A	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon16:c.G3562A:p.G1188S,TECPR2:NM_014844:exon16:c.G3562A:p.G1188S	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.114035479927	.	.	2.228e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs777493199	6.17e-06	6.156e-06	9.546e-06	2.757e-06	2.524e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	2.524e-05	0	0	7.2e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.14	0.88066	T	-4.25	0.76094	D	0.87	0.86725	-0.8724	0.50349	T	0.176	0.52115	T	10	0.82563263	0.81744	D	0.114035	0.79275	D	0.523	0.79765	0.694	0.83126	0.749488993194	0.74722	0.6958486500516565	0.69525	0.995581782991	0.74216	0.680115759373	0.64284	T	0.370013	0.73463	T	0.399257	0.89868	D	0.335729	0.89741	D	0.956445872783661	0.64758	D	0.929607	0.73996	D	0.4574475	0.64512	0.4991996	0.71045	0.4574475	0.64513	0.4991996	0.71045	-9.856	0.73045	D	.	.	0.427	0.63694	A	.;.	.;.	4.644052	0.73957	26.1	0.99827202372622992	0.90939	0.99641	0.98258	D	AEFDGBI	0.906212	0.85871	D	0.69352345555713	0.79208	7.029414	0.700592928875811	0.82425	7.763339	0.999999999999721	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.519000	0.97069	11.688000	0.94314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	0.0:0.0:1.0:0.0	20.644	0.99572	216	0.91608	.;.	.	.	.	.	.	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	1069.33	45	chr14	102452549	.	G	A	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.79;DP=774;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.092;SOR=0.925	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1083,0,817	18	0	1	0
chr14	104106865	104106865	G	A	exonic	ASPG	.	nonsynonymous SNV	ASPG:NM_001080464:exon11:c.G1240A:p.V414M	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.121833551314	.	0.00179712	0.0013	0	0	0	0	8.61e-05	0	0.0058	0.000511	79	154602	rs563729853	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	3.015e-05	0	0	2.576e-05	0	0.0002	9.056e-07	0.0003	0.0036	0.0001	0.0001	6.425e-05	0.0002	0.0033	7.573e-05	6.278e-05	0.0021	0.0017	4.812e-05	0	0	0	0	0	0	0	0	0.0033	0.067	0.40832	T	0.088	0.40586	T	0.115	0.37531	B	0.051	0.25434	B	0.029277	0.25478	N	0.381492	0.999631	0.20820	N	1.845	0.48678	L	-0.23	0.66652	T	-0.23	0.10656	N	0.143	0.15609	-0.9098	0.46879	T	0.203	0.55975	T	10	0.0031476915	0.00053	T	0.121834	0.80268	D	0.029	0.06676	0.399	0.42753	0.342400092842	0.33857	0.19346623354743528	0.19264	0.0994019885817	0.11232	0.422397345304	0.28166	T	0.034357	0.36187	T	-0.490254	0.00648	T	-0.47783	0.24678	T	0.0413253880924361	0.03930	T	0.757724	0.38847	T	0.036079407	0.04369	0.07502411	0.16473	0.036079407	0.04368	0.07502411	0.16473	-5.925	0.45647	T	.	.	0.077	0.07650	B	.;.	.;.	1.427273	0.18448	13.74	0.97990849134479452	0.37401	0.15280	0.18834	N	AEFDBI	0.137324	0.25827	N	-0.77320202845891	0.14011	0.6945534	-0.824338508429019	0.13905	0.7238904	0.852781797504534	0.25076	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.52	2.43	0.28797	-0.259000	0.08742	0.229000	0.16167	-0.174000	0.10959	0.000000	0.06391	0.705000	0.26257	0.018000	0.11154	0.1491:0.5216:0.3293:0.0	8.326	0.31319	510	0.75209	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	.	.	.	.	.	.	.	.	0.02632	706.33	34	chr14	104106865	.	G	A	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.673;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.801;SOR=0.746	GT:AD:DP:GQ:PL	0/1:30,31:61:99:720,0,709	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	0/1:103,28:146:99:.:.:718,0,4114:.	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	0/1:50,28:92:99:.:.:768,0,3931:.	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14:92:99:.:.:378,0,2740:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14:92:99:.:.:378,0,2740:.	3	0	14	2
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	0/1:50,14:92:99:.:.:378,0,2740:.	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	0/1:50,14:92:99:.:.:378,0,2740:.	4	0	15	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1758,162,0	0	13	3	3
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	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	.	.	.	.	.	.	.	.	0.07895	128.88	32	chr15	22607800	.	C	G	128.88	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.029;DP=331;ExcessHet=0.3672;FS=54.82;InbreedingCoeff=-0.0879;MLEAC=3;MLEAF=0.079;MQ=27.7;MQRankSum=-2.041;QD=2.22;ReadPosRankSum=0.174;SOR=5.279	GT:AD:DP:GQ:PL	0/1:13,3:16:28:28,0,374	16	0	3	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,5:8:99:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:159,0,110:22768260	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:1|0:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:78,0,118:22768260	8	4	2	5
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	141.4	5	chr15	22769367	.	T	C	141.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.992;DP=118;ExcessHet=0;FS=2.808;InbreedingCoeff=0.2991;MLEAC=1;MLEAF=0.033;MQ=54.34;MQRankSum=0.751;QD=15.71;ReadPosRankSum=-0.732;SOR=1.17	GT:AD:DP:GQ:PL	0/1:3,6:9:79:153,0,79	14	0	1	4
chr15	23329317	23329317	C	T	exonic	GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L22:NM_001271664:exon6:c.G533A:p.R178K,LOC102723623:NM_001382446:exon6:c.G533A:p.R178K	.	808	712	1	1	0	3	0.00210231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205668299	0.0009	0.0008	0.0009	0.0010	0.0104	0.0009	0.0008	0.0069	0.0058	0.0006	0.0013	0.0027	0	0	0.0104	0.0009	0.0020	0.0005	0.0010	0.0010	0.0011	0.0010	0.0023	0.0008	0.0007	0.0013	0.0010	0.0003	0	0.0023	0.0030	0	0	0	0.0014	0.0052	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	774.13	38	chr15	23329317	.	C	T	774.13	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.081;DP=254;ExcessHet=0;FS=1.846;InbreedingCoeff=0.5742;MLEAC=4;MLEAF=0.143;MQ=26.21;MQRankSum=2.04;QD=19.35;ReadPosRankSum=-0.913;SOR=0.301	GT:AD:DP:GQ:PL	0/1:9,9:18:99:205,0,183	12	1	1	5
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	0/1:87,22:109:99:.:.:643,0,3439:.	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	0/1:87,22:109:99:.:.:643,0,3439:.	12	0	7	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	2540.04	96	chr15	23440328	.	C	*	2540.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.21;DP=1241;ExcessHet=10.3881;FS=19.119;InbreedingCoeff=-0.2418;MLEAC=7;MLEAF=0.389;MQ=56.9;MQRankSum=0;QD=8.79;ReadPosRankSum=1.22;SOR=1.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,5:43:96:0|1:23440319_CT_C:96,0,1441:23440319	5	0	4	10
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	1/0:0,89:154:99:.:.:5714,2128,2476:.	0	0	19	0
chr15	30557996	30557996	A	G	exonic	GOLGA8Q	.	nonsynonymous SNV	GOLGA8Q:NM_001355476:exon10:c.A731G:p.H244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000340525874517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07	0.20387	T	-3.79	0.71639	D	0.14	0.13911	.	.	.	.	.	.	.	0.11473575	0.21596	T	3.41E-4	0.00039	T	.	.	.	.	0.0482279557977	0.04254	0.17158458308454813	0.17078	0.358408927163	0.37553	.	.	.	.	.	.	-0.318667	0.07007	T	-0.69552	0.06074	T	.	.	.	0.365463	0.08501	T	0.12129342	0.28525	0.1378247	0.32933	0.12129342	0.28525	0.1378247	0.32932	-5.842	0.44939	T	.	.	0.086	0.10642	B	.	.	0.249798	0.06291	2.749	0.37915187181542837	0.02527	0.01612	0.05219	N	AEFI	0.041146	0.06216	N	.	.	.	.	.	.	1.52299523313829E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.861	-1.04	0.09555	1.417000	0.34378	-0.177000	0.11169	0.305000	0.19019	0.699000	0.28616	0.000000	0.08366	0.002000	0.04165	0.6898:0.3102:0.0:0.0	4.842	0.12857	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	97.73	33	chr15	30557996	.	A	G	97.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.63;DP=551;ExcessHet=0;FS=0;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.028;MQ=24;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.88;SOR=0.551	GT:AD:DP:GQ:PL	0/1:6,5:11:99:111,0,139	17	0	1	1
chr15	34363678	34363678	G	T	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon6:c.C694A:p.R232S	.	425	1092	5	0	0	5	0.00228415	.	.	.	2434988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.637	0.130874342683	.	.	0.0001	0	0	0	0	7.492e-05	0	0.0008	0.0001229	19	154602	rs564033666	5.814e-05	5.814e-05	5.173e-05	6.463e-05	0.0007	4.809e-05	4.431e-05	0.0003	0.0003	0	0	0	0	0	0.0007	3.058e-05	0.0001	0.0004	3.945e-05	3.941e-05	3.856e-05	4.037e-05	0.0002	1.716e-05	1.13e-05	1.972e-05	1.124e-05	0	0	6.546e-05	0	0	0	0	5.88e-05	0	0.0002	0.003	0.68238	D	0.007	0.70582	D	0.022	0.18677	B	0.035	0.22741	B	0.000022	0.55875	D	0.114287	0.990209	0.41109	D	2.08	0.57402	M	-3.1	0.92667	D	-4.59	0.78891	D	0.721	0.73735	0.385	0.88873	D	0.740	0.91109	D	10	0.5315964	0.63214	D	0.130874	0.81307	D	0.637	0.86130	.	.	0.865546053866	0.86424	0.8542646263465283	0.85389	0.857722285798	0.68820	0.687583327293	0.65359	T	0.665729	0.90022	D	0.0319727	0.55987	T	0.172313	0.81547	D	0.184523838331309	0.19516	T	0.814119	0.56210	T	0.67819136	0.76872	0.471295	0.69345	0.67819136	0.76873	0.471295	0.69346	-10.513	0.76922	D	.	.	0.550	0.71722	A	.;.	.;.	4.409545	0.68200	25.2	0.98875473068925945	0.47719	0.90495	0.51718	D	AEFDBI	0.617203	0.60347	D	0.0828376337261379	0.45662	2.819093	0.194859121539678	0.49566	3.15814	0.999999481553439	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.49	4.56	0.55644	5.104000	0.64421	7.573000	0.60761	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.6924:0.3076	12.307	0.54230	678	0.60190	Phospholipid/glycerol acyltransferase;.	.	.	.	.	.	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	1624.33	36	chr15	34363678	.	G	T	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.042;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.377;SOR=0.735	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1638,0,1975	18	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	6365.0	46	chr15	40356171	.	T	*	6365.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.8;DP=946;ExcessHet=8.9063;FS=19.546;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=59.77;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.169;SOR=1.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,33:64:99:.:.:1096,0,1111:.	14	0	3	2
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3591.87	34	chr15	40356195	.	T	*	3591.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.14;DP=879;ExcessHet=5.3738;FS=27.404;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.85;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.704;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,33:64:99:.:.:1096,0,1111:.	12	0	3	4
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3486.87	33	chr15	40356196	.	G	*	3486.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=2.59;DP=867;ExcessHet=5.3738;FS=29.501;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.78;ReadPosRankSum=-0.412;SOR=2.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,33:64:99:.:.:1096,0,1111:.	12	0	3	4
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3442.87	36	chr15	40356197	.	G	*	3442.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.677;DP=861;ExcessHet=5.3738;FS=31.671;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.56;SOR=2.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,33:64:99:.:.:1096,0,1111:.	12	0	3	4
chr15	40368321	40368321	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G2209A:p.G737S	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755170	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0376895029809	.	.	0.0002	0	9.154e-05	0	0	0.0001	0	0.0008	0.0001294	20	154602	rs199718039	4.823e-05	4.857e-05	3.288e-05	6.375e-05	0.0005	3.887e-05	3.565e-05	0.0004	0.0003	0	6.771e-05	0	0	0	0.0002	1.624e-05	0.0001	0.0005	4.6e-05	4.597e-05	3.855e-05	5.381e-05	0.0004	2.11e-05	1.527e-05	7.285e-05	3.027e-05	0	0	6.544e-05	0	0	0	0	5.881e-05	0	0.0004	0.321	0.13522	T	0.633	0.07127	T	0.951	0.53992	P	0.323	0.41825	B	0.017175	0.27791	N	0.404867	0.999995	0.08975	N	1.95	0.52479	M	2.78	0.11298	T	-0.28	0.11547	N	0.384	0.42541	-1.0122	0.26228	T	0.021	0.08870	T	10	0.09096968	0.15895	T	0.03769	0.57768	D	0.119	0.33137	0.265	0.21103	0.162503812791	0.15892	0.8155129215957445	0.81507	0.886143667092	0.70005	0.606291651726	0.53793	T	0.152636	0.49312	T	-0.445497	0.01200	T	-0.525984	0.19689	T	0.0652686706654199	0.07971	T	0.666933	0.27600	T	0.04325109	0.06705	0.07122649	0.15228	0.04325109	0.06705	0.07122649	0.15227	-0.545	0.00612	T	.	.	0.076	0.06114	B	.	.	2.495055	0.32200	18.97	0.95584413718310735	0.27297	0.62047	0.31664	D	ALL	0.190491	0.31771	N	-0.203678104312137	0.32982	1.866181	-0.201385532986674	0.31486	1.782398	1.0	0.98316	0.443343	0.08805	1	0.378051	0.05961	2	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.82	3.91	0.44383	1.558000	0.35917	8.631000	0.77853	-0.137000	0.12594	0.872000	0.30832	1.000000	0.68203	0.174000	0.21107	0.084:0.1569:0.7591:0.0	8.225	0.30722	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	36	chr15	40368321	.	G	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.612;DP=940;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.478;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1291,0,1158	18	0	1	0
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C	.	425	1051	42	4	0	50	0.0232342	.	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014632	0.005051	0.009511	0.014620	0.000000	0.000000	0.030675	0.030303	0.05263	2028.83	34	chr15	41892953	.	G	A	2028.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.56;DP=756;ExcessHet=0.119;FS=1.992;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.1;SOR=0.904	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1270,0,878	17	0	2	0
chr15	42692905	42692905	G	A	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.G11327A:p.G3776E	.	434	1087	1	0	0	1	0.00045977	.	.	.	2440110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0580050262035	.	0.000399361	0.0004	0	0	0	0	0.0007	0	0.0003	5.82e-05	9	154602	rs545235526	8.087e-05	7.661e-05	5.559e-05	0.0001	0.0004	6.851e-05	6.407e-05	0.0001	0.0001	0	0.0002	0.0008	0	0	0.0004	4.634e-05	0.0002	0.0002	5.909e-05	5.905e-05	6.424e-05	5.372e-05	0.0002	3.075e-05	2.209e-05	2.846e-05	1.858e-05	0	0	6.535e-05	0.0006	0	0	0	7.35e-05	0	0.0002	0.118	0.28148	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.2	0.30300	L	0.01	0.62459	T	-1.97	0.45587	N	0.156	0.16168	-0.8008	0.55097	T	0.164	0.50111	T	9	0.022960663	0.00588	T	0.058005	0.67166	D	0.193	0.47281	.	.	0.328486982098	0.32448	0.03964377859228244	0.03910	.	.	0.234785377979	0.02341	T	0.008186	0.07532	T	-0.168825	0.25412	T	-0.171415	0.57313	T	0.0262309589160922	0.01437	T	0.505249	0.15946	T	0.06521235	0.13914	0.078732364	0.17660	0.06521235	0.13914	0.078732364	0.17659	-2.814	0.08313	T	.	.	0.096	0.15430	B	.	.	0.738048	0.11073	7.725	0.9834767049961487	0.40507	0.02746	0.07427	N	AEFDBI	0.050397	0.08804	N	-0.197293127286063	0.33247	1.884037	-0.286556330085994	0.28541	1.592139	0.837736349022423	0.24810	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.11	4.12	0.47504	0.321000	0.19306	0.161000	0.15406	0.676000	0.76740	0.269000	0.25036	0.000000	0.08366	0.447000	0.27828	0.1445:0.2403:0.6152:0.0	4.310	0.10406	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2256.33	56	chr15	42692905	.	G	A	2256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.353;DP=1018;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.65;SOR=0.75	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2270,0,2422	18	0	1	0
chr15	44657156	44657156	C	T	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon4:c.G808A:p.V270I,SPG11:NM_025137:exon4:c.G808A:p.V270I	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	49790	Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_11|Charcot-Marie-Tooth_disease_axonal_type_2X|not_specified|Inborn_genetic_diseases|not_provided|Amyotrophic_lateral_sclerosis_type_5	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0102	0.00319489	0.0061	0.0094	0.0063	0	0.0085	0.0074	0.0089	0.0009	0.0063583	983	154602	rs80338868	0.0082	0.0082	0.0084	0.0080	0.0095	0.0081	0.0081	0.0093	0.0093	0.0088	0.0044	0.0053	5.039e-05	0.0067	0.0017	0.0095	0.0065	0.0011	0.0080	0.0080	0.0087	0.0074	0.0094	0.0077	0.0075	0.0088	0.0086	0.0087	0.0175	0.0047	0.0066	0.0002	0.0084	0	0.0094	0.0076	0.0010	0.036	0.45756	D	0.084	0.92824	T	0.954	0.62824	P	0.568	0.54560	P	0.000566	0.43250	D	0.157745	0.838595	0.35030	D	2.585	0.75554	M	1.25	0.36512	T	-0.46	0.15379	N	0.16	0.21449	-0.7684	0.56945	T	0.131	0.44228	T	10	0.0037087202	0.00068	T	.	.	.	0.085	0.24743	.	.	0.323615622048	0.31974	0.28952331646831464	0.28865	0.226377635705	0.25196	0.298920989037	0.10241	T	0.023793	0.19213	T	-0.492818	0.00627	T	-0.470288	0.25485	T	0.0355522876504301	0.02903	T	0.775922	0.43364	T	0.081793174	0.18812	0.08141546	0.18500	0.0991322	0.23392	0.07964499	0.17948	-2.98	0.09967	T	0.4621403308800681	0.54416	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	1.731179	0.22032	15.45	0.99723898268419575	0.82266	0.44517	0.27336	N	AEFGBIJ	0.091384	0.18511	N	0.242981886219276	0.53291	3.498804	0.176585574539979	0.48568	3.070903	0.999999995513559	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	1.121000	0.30897	0.581000	0.19707	0.596000	0.33519	0.416000	0.26298	0.176000	0.23382	0.571000	0.30675	0.0:1.0:0.0:0.0	17.625	0.87994	142	0.94345	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1081.33	34	chr15	44657156	.	C	T	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.678;DP=768;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.101;SOR=0.437	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1095,0,1979	18	0	1	0
chr15	45141021	45141021	G	C	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon13:c.G1516C:p.V506L,DUOX1:NM_017434:exon14:c.G1516C:p.V506L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0155597448779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.902	0.07244	T	0.011	0.15914	B	0.02	0.19048	B	0.000160	0.49130	D	0.176375	0.894655	0.36030	D	0.935	0.23595	L	-0.25	0.67011	T	-0.87	0.23590	N	0.205	0.24634	-0.9690	0.37407	T	0.143	0.46550	T	10	0.29705498	0.47268	T	0.01556	0.36360	T	0.157	0.40909	0.67	0.80803	0.661220806347	0.65838	0.772228604790673	0.77172	0.296445930362	0.32028	0.495096504688	0.38145	T	0.076742	0.35490	T	-0.0546254	0.43742	T	-0.316242	0.42986	T	0.279056638479233	0.24132	T	0.891311	0.62583	D	0.117623225	0.27727	0.061868746	0.12017	0.117623225	0.27727	0.061868746	0.12016	-2.979	0.09956	T	.	.	0.127	0.33039	B	.;.;.	.;.;.	2.338263	0.29965	18.29	0.7415206238932085	0.10589	0.92162	0.55083	D	AEFGBI	0.664082	0.63337	D	-0.516927444218294	0.21532	1.143438	-0.39638368644527	0.25105	1.378635	0.707623617026915	0.22779	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.46	2.58	0.30011	4.555000	0.60477	1.811000	0.28962	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.497000	0.28949	0.2066:0.1928:0.6006:0.0	4.226	0.10036	620	0.66037	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	1316.33	33	chr15	45141021	.	G	C	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.496;DP=743;ExcessHet=0;FS=3.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.782;SOR=1.102	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1330,0,1382	18	0	1	0
chr15	45148402	45148402	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon21:c.C2773T:p.R925W,DUOX1:NM_017434:exon22:c.C2773T:p.R925W	.	1	1485	34	2	0	38	0.012633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	.	0.0014	0.00319489	0.0032	0.0003	0.0008	0	0	0.0024	0.0033	0.0129	0.0029301	453	154602	rs145668427	0.0023	0.0023	0.0018	0.0027	0.0138	0.0022	0.0022	0.0131	0.0129	0.0003	0.0011	0.0045	5.038e-05	0.0003	0.0081	0.0016	0.0024	0.0138	0.0019	0.0019	0.0015	0.0022	0.0129	0.0017	0.0016	0.0103	0.0094	0.0005	0	0.0035	0.0032	0	0	0.0136	0.0019	0.0009	0.0129	0.004	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.010022	0.30096	N	0.338534	0.999997	0.58761	D	2.295	0.65404	M	-0.36	0.68754	T	-5.37	0.84882	D	0.681	0.69125	-0.2476	0.76424	T	0.390	0.74438	T	10	0.012992173	0.00277	T	.	.	.	0.436	0.74093	.	.	0.90792233723	0.90700	0.726876429450591	0.72631	0.99589291935	0.74233	0.660695314407	0.61509	T	0.563573	0.85432	D	-0.296382	0.09006	T	-0.187478	0.55827	T	0.043791099414861	0.04383	T	0.988918	0.96255	D	0.3405084	0.56320	0.3176283	0.57737	0.3405084	0.56320	0.3176283	0.57736	-11.24	0.80958	D	.	.	0.179	0.39064	B	.;.;.	.;.;.	4.685011	0.75006	26.3	0.99926499286156212	0.99103	0.85381	0.44508	D	AEFDGBI	0.825499	0.74518	D	0.423167992564593	0.62697	4.490105	0.36829184902414	0.59616	4.14108	0.999999853887748	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.9	2.83	0.32150	1.612000	0.36501	0.448000	0.18493	-0.229000	0.07765	1.000000	0.71638	0.992000	0.31684	0.940000	0.48062	0.3221:0.6779:0.0:0.0	11.691	0.50776	616	0.66398	EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.008152	0.008772	0.050000	0.008621	0.006098	0.015152	0.02632	1890.33	35	chr15	45148402	.	C	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.985;SOR=0.694	GT:AD:DP:GQ:PL	0/1:81,81:162:99:1904,0,1934	18	0	1	0
chr15	45263950	45263950	G	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon6:c.G516T:p.E172D	.	413	1089	20	0	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00895856816849	0.0042	0.00199681	0.0030	0.0009	0.0010	0	0.0017	0.0039	0	0.0043	0.0030724	475	154602	rs113624548	0.0037	0.0037	0.0037	0.0037	0.0047	0.0037	0.0036	0.0041	0.0041	0.0008	0.0009	3.827e-05	0	0.0016	0.0047	0.0042	0.0035	0.0041	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0039	0.0038	0.0008	0.0121	0.0009	0	0.0004	0.0012	0	0.0044	0.0024	0.0033	0.096	0.58626	T	0.109	0.57104	T	0.165	0.28508	B	0.115	0.31843	B	0.000025	0.55875	D	0.184484	0.999979	0.53665	D	2.53	0.73802	M	4.66	0.58029	T	-2.12	0.49018	N	0.349	0.39052	-0.8862	0.49257	T	0.006	0.01981	T	10	0.009833723	0.00221	T	0.008959	0.23607	T	0.112	0.31546	0.158	0.06178	0.68937278472	0.68670	0.4067162243965829	0.40587	0.0860025168769	0.09718	0.30266046524	0.10798	T	0.033661	0.23005	T	-0.452273	0.01095	T	-0.421619	0.30890	T	0.0228466091390399	0.01005	T	0.89491	0.63503	D	0.17332315	0.38074	0.15508768	0.36369	0.17332315	0.38074	0.15508768	0.36368	-8.327	0.63277	D	.	.	0.175	0.55631	B	.;.	.;.	2.861872	0.37813	20.6	0.99861045185208053	0.93911	0.90850	0.52379	D	AEFGBI	0.535409	0.55404	D	-0.00782973758745723	0.41500	2.483424	0.110874095308859	0.45104	2.779562	0.999976340995865	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.9	4.04	0.46262	2.857000	0.48048	2.404000	0.32608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2466:0.0:0.7534:0.0	7.920	0.29000	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	912.33	33	chr15	45263950	.	G	T	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=745;ExcessHet=0;FS=1.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.35;SOR=0.85	GT:AD:DP:GQ:PL	0/1:75,41:116:99:926,0,1878	18	0	1	0
chr15	48878546	48878546	G	A	exonic	EID1	.	nonsynonymous SNV	EID1:NM_014335:exon1:c.G370A:p.V124I	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00897090598002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.91255	D	0.0	0.92824	D	0.884	0.48618	P	0.455	0.46267	P	.	.	.	.	1	0.81001	D	0.695	0.17993	N	1.12	0.38718	T	0.11	0.05706	N	0.142	0.32591	-1.0985	0.04277	T	0.078	0.31072	T	9	0.17441481	0.32320	T	0.008971	0.23631	T	0.076	0.22200	0.48	0.55983	0.24933006939	0.24537	0.015574805870415723	0.01513	0.251418646502	0.27727	0.563897252083	0.47817	T	0.023136	0.17715	T	-0.111675	0.34494	T	-0.39819	0.33596	T	0.658277630805969	0.38820	D	0.570643	0.20320	T	0.1007473	0.23791	0.21594647	0.46203	0.1007473	0.23791	0.21594647	0.46202	-3.663	0.18773	T	.	.	0.180	0.40650	B	.;.	.;.	2.744024	0.35953	20.1	0.99563819460568315	0.71953	0.51808	0.28982	D	ALL	0.677488	0.64218	D	-0.018864200547115	0.41001	2.444823	-0.00802333195592966	0.39350	2.331867	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.19	4.19	0.48645	2.504000	0.45076	10.653000	0.83529	0.676000	0.76740	0.611000	0.27839	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	12.339	0.54411	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	35	chr15	48878546	.	G	A	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.648;DP=778;ExcessHet=0;FS=6.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.441;SOR=0.333	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1501,0,1644	18	0	1	0
chr15	59207981	59207981	C	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.C1041G:p.N347K	.	430	1025	67	0	0	67	0.0316486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0107333217821	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs77368390	4.792e-06	0.0002	2.725e-06	6.881e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	1.318e-05	0.0008	1.289e-05	1.349e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.475e-05	0	0	0.034	0.44029	D	0.115	0.36630	T	0.305	0.32678	B	0.117	0.32014	B	0.003291	0.35154	U	0.227134	0.999999	0.58761	D	1.805	0.47535	L	-0.29	0.67712	T	-3.34	0.66325	D	0.17	0.18103	-0.8079	0.54677	T	0.219	0.58137	T	10	0.21257398	0.37721	T	0.010733	0.27599	T	0.103	0.29403	0.397	0.42426	0.471700387322	0.46796	0.05045534889425341	0.04988	0.0253377058962	0.02582	0.306099057198	0.11317	T	0.302661	0.67505	T	-0.0797341	0.39756	T	-0.352309	0.38941	T	0.683018445968628	0.39926	D	0.776522	0.40874	T	0.32717288	0.55238	0.5131278	0.71866	0.32717288	0.55238	0.5131278	0.71867	-5.282	0.39764	T	.	.	0.118	0.24226	B	.	.	-0.001911	0.04269	1.063	0.96235942516509487	0.29135	0.02801	0.07522	N	AEFDBI	0.047688	0.08056	N	-0.942493850555712	0.09862	0.468649	-1.10702193125262	0.07565	0.3684791	0.76259482655588	0.23535	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	-0.268	0.12295	-0.035000	0.12156	-1.340000	0.05675	-0.828000	0.02899	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:0.2736:0.0:0.7264	5.910	0.18265	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	51.85	36	chr15	59207981	.	C	G	51.85	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.618;DP=846;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0553;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-7.274;QD=0.33;ReadPosRankSum=1.66;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,6:83:20:0|1:59207981_C_G:20,0,3162:59207981	17	0	2	0
chr15	61915802	61915804	CTC	-	exonic	VPS13C	.	nonframeshift deletion	VPS13C:NM_017684:exon59:c.8145_8147del:p.R2716del,VPS13C:NM_018080:exon59:c.8145_8147del:p.R2716del,VPS13C:NM_001018088:exon61:c.8274_8276del:p.R2759del,VPS13C:NM_020821:exon61:c.8274_8276del:p.R2759del	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276580935	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2760.29	43	chr15	61915801	.	TCTC	T	2760.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=774;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=1.66;SOR=0.586	GT:AD:DP:GQ:PL	0/1:69,71:140:99:2774,0,2642	18	0	1	0
chr15	65330328	65330328	C	T	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon11:c.G1823A:p.R608H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0638956482271	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1405532603	2.531e-05	2.599e-05	2.587e-05	2.476e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	2.521e-05	2.987e-05	4.475e-05	0	2.519e-05	1.873e-05	0.0003	2.338e-05	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.07	0.68238	T	0.004	0.74150	D	1.0	0.90584	D	0.964	0.71005	D	0.000051	0.53742	D	0.126644	0.999978	0.53665	D	2.91	0.84121	M	-0.22	0.66474	T	-2.3	0.51157	N	0.555	0.58031	-0.1349	0.79287	T	0.439	0.77809	T	10	0.6952081	0.72100	D	0.063896	0.69109	D	0.272	0.58758	0.367	0.37524	0.869428651524	0.86816	0.6972083331393912	0.69661	0.169117213538	0.19062	0.784066796303	0.79543	T	0.239154	0.60721	T	0.107901	0.65133	D	-0.0827835	0.64700	T	0.914657652378082	0.57138	D	0.89771	0.64209	D	0.09789443	0.23082	0.081019856	0.18378	0.09789443	0.23082	0.081019856	0.18377	-8.342	0.63377	D	.	.	0.182	0.39511	B	.;.	.;.	5.196013	0.87160	29.1	0.99925205770110082	0.99042	0.97968	0.78509	D	AEFDGBCI	0.930682	0.91834	D	0.565542919249723	0.71033	5.589853	0.4825316804223	0.66832	5.00382	0.999999999745463	0.74766	0.712529	0.81865	0	0.59043	0.45803	0	0.635938	0.45252	0	0.542086	0.14980	0	.	.	5.26	4.35	0.51454	5.812000	0.68868	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.9255:0.0:0.0745	13.593	0.61438	548	0.72362	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	996.33	34	chr15	65330328	.	C	T	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=3.1;SOR=0.692	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1010,0,1282	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:70,25:95:99:112,0,1656	13	0	6	0
chr15	66703808	66703808	A	G	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon1:c.A550G:p.K184E	Aortic valve disease 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.862172031157	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196499540	7.793e-07	1.71e-05	1.545e-06	0	9.848e-07	0	0	.	.	0	0	0	0	0	0	9.848e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	0.998	0.73220	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.995	0.85803	M	-1.52	0.81478	D	-2.29	0.50992	N	0.691	0.69649	0.463	0.90013	D	0.672	0.88624	D	10	0.950838	0.94420	D	0.862172	0.98942	D	0.882	0.96539	0.796	0.91657	0.864194342504	0.86288	0.6791616816669496	0.67855	2.67568409033	0.98510	0.953441858292	0.99818	D	0.879346	0.97459	D	0.242063	0.77855	D	0.10993	0.77568	D	0.976714789867401	0.71507	D	0.941906	0.78301	D	0.4950453	0.66803	0.56055945	0.74575	0.4950453	0.66803	0.56055945	0.74576	-12.838	0.88684	D	0.34145679354238523	0.43917	0.904	0.83001	P	.	.	5.019338	0.83409	28.0	0.99764960334529851	0.85417	0.95848	0.66412	D	AEFDGBHCI	0.911924	0.87185	D	0.701695515588329	0.79743	7.142646	0.598088209324848	0.74801	6.19957	0.999999999999422	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.61	3.61	0.40494	5.642000	0.67561	8.741000	0.78204	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.398	0.49095	427	0.81056	MAD homology 1, Dwarfin-type|MAD homology, MH1|MAD homology 1, Dwarfin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	296.33	35	chr15	66703808	.	A	G	296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=-0.374;SOR=0.697	GT:AD:DP:GQ:PL	0/1:42,19:61:99:310,0,867	18	0	1	0
chr15	70671053	70671053	T	C	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon15:c.A1168G:p.M390V,UACA:NM_018003:exon15:c.A1207G:p.M403V	.	604	904	14	0	0	14	0.00768386	.	.	.	3216820	UACA-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.044	.	0.0028	0.00379393	0.0060	0.0006	0.0039	0.0002	0.0020	0.0060	0.0023	0.0163	0.0053751	831	154602	rs150049035	0.0040	0.0042	0.0035	0.0045	0.0150	0.0039	0.0039	0.0143	0.0140	0.0006	0.0038	0.0105	7.676e-05	0.0020	0.0120	0.0033	0.0052	0.0150	0.0036	0.0036	0.0035	0.0037	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0044	0.0056	0.0084	0	0.0012	0.0102	0.0045	0.0043	0.0162	0.384	0.13003	T	0.65	0.19073	T	0.0	0.02946	B	0.0	0.04355	B	0.531466	0.05260	N	1.229740	1	0.08975	N	-1.39	0.00611	N	1.51	0.32958	T	0.14	0.05405	N	0.094	0.07535	-1.0172	0.24625	T	0.028	0.11838	T	10	0.0015494525	0.00018	T	.	.	.	0.044	0.11924	.	.	0.104622674875	0.10061	0.12616904721490055	0.12542	0.0878705355583	0.09920	0.275885760784	0.06925	T	0.102601	0.41048	T	-0.620615	0.00109	T	-0.651923	0.08820	T	0.00288576810051717	0.00030	T	0.643236	0.26930	T	0.032945983	0.03418	0.056885745	0.10243	0.032945983	0.03417	0.056885745	0.10243	-3.126	0.11597	T	.	.	0.052	0.00461	B	.;.;.;.;.	.;.;.;.;.	-0.013232	0.04192	1.018	0.78284370114654056	0.12234	0.02355	0.06716	N	AEDGBCI	0.042721	0.06663	N	-1.42152071592821	0.02450	0.1082207	-1.45182744486338	0.02753	0.1272284	0.999999957479853	0.74766	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.636	0.56748	0	.	.	5.25	-7.65	0.01142	-0.483000	0.06616	0.110000	0.14769	-0.349000	0.05595	0.003000	0.16062	0.609000	0.25758	0.984000	0.60418	0.0956:0.6385:0.121:0.1448	10.212	0.42324	953	0.10115	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014617	0.000000	0.013587	0.008772	0.050000	0.034483	0.012195	0.026515	0.02632	638.33	40	chr15	70671053	.	T	C	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.408;SOR=0.669	GT:AD:DP:GQ:PL	0/1:53,31:84:99:652,0,1258	18	0	1	0
chr15	74182421	74182421	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon15:c.C1340T:p.T447M,STRA6:NM_001142618:exon15:c.C1340T:p.T447M,STRA6:NM_001142619:exon15:c.C1313T:p.T438M,STRA6:NM_001199040:exon15:c.C1451T:p.T484M,STRA6:NM_001199041:exon15:c.C1385T:p.T462M,STRA6:NM_001199042:exon15:c.C1457T:p.T486M,STRA6:NM_022369:exon15:c.C1340T:p.T447M	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.036407621083	.	0.000199681	2.152e-05	0.0001	0	0.0002	0	0	0	0	2.59e-05	4	154602	rs531103181	8.906e-06	9.577e-06	9.54e-06	8.265e-06	2.523e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	2.523e-05	0	0	9e-06	1.658e-05	1.165e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0	0.193	0.20912	T	0.142	0.35840	T	0.004	0.12183	B	0.002	0.06944	B	0.492092	0.12045	N	0.781238	1	0.08975	N	0.56	0.15190	N	-1.41	0.80560	T	0.39	0.03521	N	0.095	0.08366	-0.8206	0.53896	T	0.321	0.69039	T	10	0.04736048	0.04044	T	0.036408	0.56971	D	0.160	0.41473	0.352	0.35084	0.421060224861	0.41726	0.36956894155801573	0.36870	0.0960964602425	0.10848	0.23411642015	0.02286	T	0.070711	0.34028	T	-0.225344	0.17271	T	-0.378076	0.35947	T	0.028527932241559	0.01766	T	0.743426	0.36288	T	0.014340292	0.00089	0.04947254	0.07568	0.014340292	0.00089	0.04947254	0.07567	-2.741	0.08896	T	.	.	0.066	0.03736	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.039162	0.14197	10.77	0.91539751557054494	0.20817	0.00359	0.01841	N	AEFGBI	0.023560	0.01330	N	-1.01886409154738	0.08213	0.3842612	-1.03700072270711	0.08979	0.444286	0.99743414743059	0.35614	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.91	-1.06	0.09491	0.268000	0.18336	0.065000	0.14184	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.865000	0.41091	0.6183:0.0:0.3817:0.0	10.714	0.45199	813	0.42397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	830.33	34	chr15	74182421	.	G	A	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.45;DP=706;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.71;SOR=0.859	GT:AD:DP:GQ:PL	0/1:42,37:79:99:844,0,1047	18	0	1	0
chr15	74720710	74720710	C	T	exonic	CYP1A1	.	nonsynonymous SNV	CYP1A1:NM_001319216:exon6:c.G1231A:p.D411N,CYP1A1:NM_000499:exon7:c.G1318A:p.D440N,CYP1A1:NM_001319217:exon7:c.G1318A:p.D440N	.	0	1517	4	1	0	6	0.00197368	.	.	.	703333	CYP1A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.013996639748	0.0045	0.00299521	0.0040	0.0009	0.0018	0.0001	0.0056	0.0057	0.0022	0.0020	0.0041591	643	154602	rs145198866	0.0054	0.0054	0.0056	0.0052	0.0062	0.0053	0.0053	0.0061	0.0060	0.0009	0.0030	0.0023	0.0001	0.0057	0.0019	0.0062	0.0047	0.0026	0.0038	0.0038	0.0038	0.0039	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0035	0.0046	0.0002	0.0042	0	0.0059	0.0024	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000003	0.62929	N	0.133396	0.993836	0.23639	N	-0.62	0.02180	N	-0.3	0.67874	T	2.41	0.00258	N	0.07	0.12198	-0.9967	0.30838	T	0.067	0.27708	T	10	0.006428659	0.00146	T	0.013997	0.33816	T	0.195	0.47612	.	.	0.532890898078	0.52938	0.43171457669230934	0.43088	0.030042904158	0.03099	0.289598971605	0.08864	T	0.005625	0.41274	T	-0.604765	0.00136	T	-0.631091	0.10331	T	0.00220547883614682	0.00023	T	0.140786	0.01504	T	0.21424441	0.43825	0.09029288	0.21166	0.21424441	0.43825	0.09029288	0.21166	-2.855	0.08701	T	.	.	0.059	0.07697	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.577310	0.01634	0.114	0.30749592467469872	0.01698	0.04190	0.09694	N	AEFDGBIJ	0.071341	0.14199	N	-1.56102233805118	0.01471	0.06422018	-1.5075270587592	0.02286	0.1048849	0.0171064814120803	0.12912	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.61	-2.2	0.06601	1.027000	0.29721	-0.841000	0.07217	-1.754000	0.00685	0.711000	0.28732	0.000000	0.08366	0.000000	0.00833	0.0:0.2545:0.0:0.7455	11.945	0.52208	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1545.33	44	chr15	74720710	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=797;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.929;SOR=0.954	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1559,0,1666	18	0	1	0
chr15	77037132	77037132	G	C	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.G1150C:p.G384R,PSTPIP1:NM_003978:exon15:c.G1207C:p.G403R,PSTPIP1:NM_001321136:exon16:c.G1180C:p.G394R,PSTPIP1:NM_001321137:exon16:c.G1402C:p.G468R	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	0	1501	20	1	0	22	0.00727513	.	.	.	433870	not_provided|Autoinflammatory_syndrome|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.715	0.379205151611	8e-05	0.000199681	0.0003	0	0	0	0	7.981e-05	0	0.0018	0.0002199	34	154602	rs369113632	0.0002	0.0002	0.0001	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	2.239e-05	0	2.519e-05	0	0.0038	7.197e-05	0.0003	0.0018	7.225e-05	7.218e-05	5.142e-05	9.402e-05	0.0014	3.97e-05	3.126e-05	0.0007	0.0005	0	0	6.539e-05	0	0.0002	0	0.0034	1.471e-05	0	0.0014	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-0.16	0.65378	T	-3.98	0.74193	D	0.905	0.92667	0.521	0.90839	D	0.677	0.88837	D	10	0.438865	0.57971	T	0.379205	0.92931	D	0.715	0.89877	0.946	0.99325	0.92207517935	0.92128	0.803177007946961	0.80271	0.693671442879	0.60719	0.666114509106	0.62284	T	0.243553	0.61251	T	-0.0918208	0.37774	T	0.088545	0.76148	D	0.260756384061415	0.23348	T	0.950605	0.82752	D	0.5855443	0.71910	0.53273374	0.73000	0.6310291	0.74354	0.5507435	0.74024	-10.06	0.75170	D	0.5577426508343604	0.62574	0.232	0.50472	B	.;.;.	.;.;.	4.906991	0.80697	27.4	0.99921221613265843	0.98787	0.95409	0.64607	D	AEFDBCI	0.888545	0.82176	D	0.849350165810424	0.89071	9.823342	0.7756234460527	0.88054	9.43995	0.999999999991267	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	5.16	5.16	0.70563	9.209000	0.94206	11.834000	0.97615	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	17.210	0.86811	295	0.88218	SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2160.33	34	chr15	77037132	.	G	C	2160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.918;DP=854;ExcessHet=0;FS=2.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.033;SOR=0.535	GT:AD:DP:GQ:PL	0/1:123,101:224:99:2174,0,3128	18	0	1	0
chr15	77458420	77458420	A	G	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon2:c.A13G:p.M5V,HMG20A:NM_018200:exon3:c.A13G:p.M5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0159351701722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.22746	T	0.331	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	0.000028	0.55875	D	0.145961	0.956243	0.26305	N	0.205	0.09354	N	-0.12	0.64630	T	-1.6	0.38540	N	0.232	0.26233	-0.9436	0.42041	T	0.135	0.44933	T	10	0.12528199	0.23805	T	0.015935	0.36945	T	0.166	0.42578	0.316	0.29258	0.461451286077	0.45770	0.4150576980179047	0.41421	0.449592601622	0.44747	0.557818353176	0.46959	T	0.032693	0.22596	T	-0.0170454	0.49272	T	-0.262261	0.48599	T	0.340292781591415	0.26635	T	0.773323	0.40643	T	0.08453906	0.19571	0.10837787	0.26105	0.08453906	0.19571	0.10837787	0.26105	-2.251	0.04295	T	.	.	0.088	0.11461	B	.;.;.;.;.	.;.;.;.;.	2.480298	0.31981	18.91	0.86881530103245996	0.16837	0.66841	0.33219	D	AEFDBCI	0.354711	0.44670	N	-0.114305250156654	0.36770	2.129892	0.109460439987221	0.45031	2.773627	0.999999873852127	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.86	5.86	0.93936	4.183000	0.58114	6.154000	0.54239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.9223:0.0:0.0777:0.0	9.950	0.40804	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1755.33	34	chr15	77458420	.	A	G	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=807;ExcessHet=0;FS=4.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.559;SOR=1.042	GT:AD:DP:GQ:PL	0/1:102,78:180:99:1769,0,2376	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	0/1:44,18:62:3:3,0,811	9	0	10	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,25:86:99:.:.:415,0,2969:.	14	0	5	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,25:86:99:.:.:415,0,2969:.	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	0/1:52,25:78:99:.:.:767,0,2384:.	9	0	10	0
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	847.21	63	chr15	84240189	.	C	T	847.21	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.014;DP=851;ExcessHet=1.383;FS=16.586;InbreedingCoeff=-0.1671;MLEAC=5;MLEAF=0.139;MQ=33.66;MQRankSum=0.219;QD=4.48;ReadPosRankSum=-0.05;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:86:0|1:84240169_A_G:86,0,1641:84240169	13	0	5	1
chr15	88856755	88856755	C	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C4170G:p.D1390E,ACAN:NM_001369268:exon12:c.C4170G:p.D1390E,ACAN:NM_013227:exon12:c.C4170G:p.D1390E	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	107	1372	25	2	16	45	0.010458	.	.	.	1683568	not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	.	0.0443291	0	0	0	0	0	0	0	0	0.0094129	245	26028	rs201822759	0.0069	0.0061	0.0067	0.0071	0.0094	0.0068	0.0067	0.0074	0.0073	0.0031	0.0076	0.0062	0.0032	0.0045	0.0094	0.0076	0.0094	0.0033	0.0097	0.0095	0.0110	0.0084	0.0168	0.0091	0.0088	0.0156	0.0151	0.0048	0	0.0073	0.0039	0.0019	0.0014	0.0254	0.0168	0.0076	0.0005	0.137	0.26852	T	0.662	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-3.98	0.96277	D	-0.48	0.21003	N	0.048	0.01999	0.043	0.83110	D	0.738	0.91058	D	9	0.0042357147	0.00085	T	.	.	.	0.258	0.56959	0.349	0.34598	0.117191471859	0.11215	0.02303425850539713	0.02255	0.236098789553	0.26144	0.573864936829	0.49224	T	0.153756	0.49474	T	-0.421962	0.01662	T	-0.377391	0.36028	T	0.00696940099352424	0.00079	T	0.367163	0.11156	T	0.05131588	0.09407	0.031162793	0.01666	0.038783524	0.05234	0.035093628	0.02695	-6.186	0.47809	T	0.12615419190264415	0.12685	0.596	0.69078	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.434138	0.02088	0.195	0.28414234301936492	0.01458	0.01166	0.04198	N	AEFBI	0.057259	0.10651	N	-1.18282007972721	0.05260	0.2393459	-1.38965550116176	0.03361	0.1566345	0.191794391933606	0.18009	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.52	-5.17	0.02632	-3.240000	0.00602	-20.000000	0.00162	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1206:0.2762:0.3565:0.2467	2.086	0.03424	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.076163	0.201220	0.067449	0.075221	0.100000	0.018182	0.065068	0.039370	0.05882	6336.94	37	chr15	88856755	.	C	G	6336.94	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.377;DP=1362;ExcessHet=0;FS=3.416;InbreedingCoeff=0.6162;MLEAC=2;MLEAF=0.059;MQ=46.77;MQRankSum=-0.489;QD=15.34;ReadPosRankSum=1.33;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:12,123:151:99:.:.:3622,356,177:.	15	0	2	2
chr15	88856755	88856755	-	AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_001369268:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_013227:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0025	0.0018	0.0020	0.0026	0.0018	0.0018	0.0023	0.0022	0.0003	0.0004	0.0024	0.0005	0.0048	0.0024	0.0018	0.0024	0.0026	6.283e-05	6.267e-05	9.208e-05	3.217e-05	0.0001	2.066e-05	1.288e-05	4.919e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	6336.94	37	chr15	88856755	.	C	CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	6336.94	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.377;DP=1362;ExcessHet=0;FS=3.416;InbreedingCoeff=0.6162;MLEAC=1;MLEAF=0.029;MQ=46.77;MQRankSum=-0.489;QD=15.34;ReadPosRankSum=1.33;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,16:151:99:.:.:3622,2858,3689:.	16	0	1	2
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|1:0,15:38:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1555,916,896:89776889	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|1:0,23:38:76:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1041,76,0:89776889	1	15	1	2
chr16	813608	813608	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon3:c.C956T:p.T319M	.	420	1100	2	0	0	2	0.000908265	.	.	.	3584591	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00282089614422	.	0.000199681	0.0001	0	0.0002	0	0	6.733e-05	0	0.0004	6.47e-05	10	154602	rs569940908	6.866e-05	7.046e-05	5.373e-05	8.381e-05	0.0006	5.748e-05	5.333e-05	0.0005	0.0004	0	4.671e-05	0	0	0	0	4.073e-05	5.021e-05	0.0006	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1107.33	39	chr16	813608	.	C	T	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.272;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.385;SOR=0.744	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1121,0,806	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	0|1:6,51:57:92:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:1737,0,92:1397263	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	0|1:6,51:57:92:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:1737,0,92:1397263	9	5	3	2
chr16	1506292	1506292	G	A	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon17:c.G2089A:p.G697S,TELO2:NM_016111:exon17:c.G2089A:p.G697S	You-Hoover-Fong syndrome, Autosomal recessive	417	1103	2	0	0	2	0.000905797	.	.	.	2122667	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0472564183463	7.7e-05	.	8.274e-05	0.0002	8.645e-05	0	0	9.053e-05	0	6.057e-05	6.47e-05	10	154602	rs145891685	7.389e-05	7.388e-05	7.079e-05	7.701e-05	0.0024	6.249e-05	5.808e-05	0.0015	0.0012	0.0003	0	0	0	0	0.0024	6.835e-05	6.624e-05	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.007	0.59928	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	2.44	0.70756	M	2.43	0.15261	T	-4.99	0.82221	D	0.814	0.80964	-1.0817	0.07022	T	0.096	0.36029	T	10	0.8406963	0.83226	D	0.047256	0.62838	D	0.365	0.68495	.	.	0.548737595723	0.54530	0.6725922234472629	0.67197	0.554039843367	0.52157	0.652264595032	0.60307	T	0.481716	0.81017	T	-0.141031	0.29726	T	-0.160922	0.58268	T	0.826481819152832	0.48260	D	0.932007	0.74652	D	0.54194623	0.69505	0.42410132	0.66260	0.54194623	0.69506	0.42410132	0.66260	-8.044	0.61370	D	0.6128893999490087	0.68062	0.243	0.47687	B	.	.	4.808027	0.78192	26.8	0.99779604269303424	0.86693	0.94760	0.62235	D	AEFDBCI	0.893309	0.83113	D	0.337714071578186	0.58094	3.97981	0.218711189940786	0.50885	3.276067	0.99989822767899	0.45129	0.706548	0.73137	0	0.643519	0.57511	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	8.077000	0.89310	11.578000	0.93324	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0:0.0:1.0:0.0	15.586	0.76229	774	0.48577	.	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1516.33	34	chr16	1506292	.	G	A	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.067;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-2.55;SOR=0.649	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1530,0,1571	18	0	1	0
chr16	1791501	1791501	C	T	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.G1031A:p.R344Q,IGFALS:NM_004970:exon2:c.G917A:p.R306Q	Acid-labile subunit, deficiency of	416	1104	1	1	0	3	0.00135685	.	.	.	334110	Short_stature_due_to_primary_acid-labile_subunit_deficiency	MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0441767801366	.	0.000399361	0.0002	0	0	0.0013	0	9.407e-05	0	7.83e-05	0.0001164	18	154602	rs201176815	8.931e-05	8.961e-05	0.0001	7.598e-05	0.0011	7.654e-05	7.198e-05	0.0008	0.0007	0	0	0	0.0011	5.84e-05	0	6.577e-05	6.654e-05	8.18e-05	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0017	4.952e-05	3.959e-05	0.0009	0.0007	0	0	0	0	0.0017	0.0002	0	2.94e-05	0	0	0.069	0.35537	T	0.569	0.12812	T	1.0	0.90584	D	0.957	0.69900	D	0.000010	0.62929	N	0.105674	0.953414	0.37829	D	0.135	0.08676	N	1.86	0.24285	T	-0.87	0.23590	N	0.713	0.71765	-1.0922	0.05175	T	0.071	0.28969	T	10	0.2152634	0.38073	T	0.044177	0.61358	D	0.216	0.50959	0.484	0.56621	0.796489376442	0.79459	0.5975374553546505	0.59684	0.337979582532	0.35776	0.605527937412	0.53685	T	0.075455	0.35183	T	-0.385266	0.02885	T	-0.366718	0.37273	T	0.122185311014252	0.14641	T	0.776522	0.40874	T	0.15743782	0.35475	0.1173554	0.28330	0.15743782	0.35475	0.1173554	0.28329	-4.056	0.24639	T	0.6546494455396146	0.72728	0.097	0.17785	B	.;.	.;.	4.500885	0.70397	25.5	0.99936802244354273	0.99661	0.93604	0.58673	D	AEFDBCI	0.802079	0.72760	D	0.294654999010762	0.55878	3.751872	0.345329769196706	0.58226	3.992006	0.999996793306891	0.74766	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.37	4.42	0.52775	5.662000	0.67701	2.200000	0.31279	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.989000	0.64315	0.0:0.9197:0.0:0.0803	12.791	0.56914	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	939.33	34	chr16	1791501	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=990;ExcessHet=0;FS=11.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.069;SOR=1.531	GT:AD:DP:GQ:PL	0/1:32,31:63:99:953,0,858	18	0	1	0
chr16	2104617	2104617	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon22:c.G8042A:p.R2681H,PKD1:NM_001009944:exon22:c.G8042A:p.R2681H	Polycystic kidney disease, adult type I, Autosomal dominant	55	1461	6	0	0	6	0.00204918	.	.	.	1191772	not_provided|PKD1-related_disorder|Polycystic_kidney_disease,_adult_type	MedGen:C3661900|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.200604818504	0.0003	0.000599042	0.0005	0.0008	0	0	0	0.0002	0	0.0008	0.0001358	21	154602	rs200742306	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0017	0.0013	0.0007	0.0003	0.0003	0.0002	2.099e-05	0.0029	0.0002	0.0005	0.0004	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0003	0.0003	0.0004	0	0.0035	4.48e-05	0.0015	0.0007	0.162	0.23541	T	0.205	0.27145	T	0.022	0.20130	B	0.004	0.12992	B	0.099358	0.19938	N	0.532850	0.996461	0.23006	N	1.35	0.33515	L	1.33	0.35031	T	-1.0	0.26422	N	0.115	0.10340	-1.0511	0.14092	T	0.036	0.15334	T	10	0.03705749	0.02038	T	0.200605	0.86718	D	0.021	0.04004	.	.	0.65035256145	0.64745	0.23145852083170548	0.23060	.	.	0.309174269438	0.11782	T	0.236001	0.60339	T	-0.40344	0.02197	T	-0.493347	0.23039	T	0.0098210204489241	0.00129	T	0.773423	0.40508	T	0.02566341	0.01529	0.02986403	0.01372	0.03515183	0.04083	0.029063813	0.01204	-4.017	0.24057	T	0.2406231235730337	0.32593	0.071	0.03811	B	.;.	.;.	1.776712	0.22594	15.68	0.98366308695422755	0.40699	0.19273	0.20596	N	AEFI	0.124187	0.24013	N	-0.699365419846688	0.16039	0.8137369	-0.587963627494031	0.19806	1.064337	9.20117697821852E-6	0.01202	0.706298	0.61202	0	0.644132	0.57912	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.77	-0.209	0.12532	0.140000	0.15877	-0.709000	0.07759	0.575000	0.29119	0.923000	0.32050	0.008000	0.19753	0.910000	0.44547	0.0:0.3253:0.2699:0.4048	4.993	0.13569	680	0.59965	REJ domain|Polycystin cation channel;.	.	.	.	.	.	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	0.003619	0.008333	0.000000	0.013636	0.000000	0.000000	0.000000	0.008547	0.02632	1102.33	39	chr16	2104617	.	C	T	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.284;DP=837;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.09;MQRankSum=-2.338;QD=12.67;ReadPosRankSum=-0.144;SOR=0.536	GT:AD:DP:GQ:PL	0/1:40,47:89:99:1116,0,846	18	0	1	0
chr16	2181449	2181449	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C1919T:p.T640I	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0385003272841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420394368	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	6.572e-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	0.022	0.48642	D	0.313	0.19539	T	0.097	0.25541	B	0.023	0.19966	B	.	.	.	.	0.996776	0.22906	N	1.1	0.28011	L	-0.19	0.65931	T	-0.96	0.25551	N	0.161	0.16864	-0.9903	0.32525	T	0.146	0.47038	T	9	0.13863775	0.26364	T	0.038	0.58257	D	0.044	0.11924	0.196	0.10839	0.540398724887	0.53692	0.2534718499261308	0.25261	0.330248742223	0.35112	0.453457891941	0.32416	T	0.009029	0.08246	T	-0.115343	0.33887	T	-0.403458	0.32983	T	0.148741489190751	0.17002	T	0.644736	0.25622	T	0.081043325	0.18601	0.06948308	0.14644	0.081043325	0.18601	0.06948308	0.14644	-7.071	0.54551	T	.	.	0.093	0.14155	B	.	.	1.753000	0.22303	15.56	0.71546561601365977	0.09666	0.96990	0.72056	D	AEFBI	0.436332	0.49659	N	-0.317566566193033	0.28480	1.571266	-0.219316643102321	0.30842	1.740191	0.98009451854256	0.30098	0.615465	0.37627	0	0.633656	0.55848	0	0.26897	0.05253	2	0.567892	0.33627	0	.	.	4.41	4.41	0.52588	4.306000	0.58911	2.999000	0.35913	0.676000	0.76740	0.991000	0.37257	0.770000	0.26692	0.001000	0.02609	0.0:0.0:1.0:0.0	12.367	0.54563	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	934.33	41	chr16	2181449	.	G	A	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=754;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.175;SOR=0.566	GT:AD:DP:GQ:PL	0/1:50,40:90:99:948,0,1305	18	0	1	0
chr16	2964928	2964928	G	C	exonic	KREMEN2	.	nonsynonymous SNV	KREMEN2:NM_001253725:exon2:c.G164C:p.G55A,KREMEN2:NM_001253726:exon2:c.G164C:p.G55A,KREMEN2:NM_024507:exon2:c.G164C:p.G55A,KREMEN2:NM_172229:exon2:c.G164C:p.G55A	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.114684296804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.894e-07	6.841e-07	1.371e-06	0	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.70582	D	0.998	0.73220	D	0.946	0.68276	D	0.000198	0.48115	D	0.000000	0.99983	0.49637	D	-0.21	0.04010	N	0.53	0.58897	T	-3.06	0.63090	D	0.3	0.39052	-0.6734	0.61674	T	0.177	0.52256	T	10	0.2995117	0.47503	T	0.114684	0.79362	D	0.186	0.46104	0.341	0.33302	0.826555733501	0.82491	0.6664750473124545	0.66585	1.7839077687	0.91422	0.63871973753	0.58382	T	0.171147	0.51916	T	-0.031704	0.47170	T	-0.283317	0.46464	T	0.968646883964539	0.68314	D	0.80112	0.44691	T	0.37726745	0.59117	0.3073878	0.56761	0.37726745	0.59118	0.3073878	0.56760	-9.455	0.73166	D	.	.	0.096	0.38836	B	.;.;.;.;.;.	.;.;.;.;.;.	4.584607	0.72457	25.8	0.99732622443000607	0.82904	0.51953	0.29017	D	AEFDBHCIJ	0.285166	0.39785	N	0.254953315185586	0.53883	3.555541	0.253377367886023	0.52841	3.456345	0.999999999989908	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.69	4.69	0.58546	2.607000	0.45964	7.241000	0.57901	0.583000	0.30283	0.998000	0.41325	1.000000	0.68203	0.808000	0.38083	0.0:0.0:1.0:0.0	15.111	0.72032	867	0.32089	Kringle|Kringle|Kringle|Kringle;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1803.33	36	chr16	2964928	.	G	C	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=807;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.48;SOR=0.443	GT:AD:DP:GQ:PL	0/1:55,75:130:99:1817,0,1208	18	0	1	0
chr16	3390500	3390500	C	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001324343:exon3:c.G151T:p.A51S,ZSCAN32:NM_001284527:exon4:c.G550T:p.A184S	.	424	1069	26	3	0	32	0.0147465	.	.	.	2810985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	.	0.00399361	0.0079	0	0.0069	0	0	0.0079	0.0195	0.0091	0.0018823	291	154602	rs117689911	0.0074	0.0071	0.0072	0.0076	0.0140	0.0073	0.0072	0.0112	0.0102	0.0009	0.0015	0.0067	2.798e-05	0.0154	0.0140	0.0076	0.0064	0.0094	0.0063	0.0063	0.0058	0.0067	0.0087	0.0059	0.0058	0.0082	0.0079	0.0010	0.0022	0.0031	0.0058	0	0.0190	0.0034	0.0087	0.0038	0.0079	0.685	0.04366	T	0.728	0.05786	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-0.03	0.07444	N	0.062	0.03392	-0.9627	0.38664	T	0.007	0.02244	T	8	0.0033713877	0.00059	T	.	.	.	0.027	0.05988	.	.	0.119812018005	0.11559	0.04997811369492747	0.04940	.	.	0.279437214136	0.07413	T	0.002843	0.02237	T	-0.726159	0.00025	T	-0.806458	0.01746	T	0.00580775176423805	0.00063	T	0.489451	0.15024	T	0.050505616	0.09134	0.0647205	0.13012	0.050505616	0.09134	0.0647205	0.13012	-3.23	0.12851	T	.	.	0.126	0.26700	B	.;.;.;.	.;.;.;.	1.118022	0.15034	11.54	0.78993910658157351	0.12543	0.08155	0.14119	N	AEFBI	0.058180	0.10895	N	-0.797187233141029	0.13383	0.6589055	-0.900159892576677	0.12090	0.6199057	0.999553191052343	0.40362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.61	1.51	0.22094	0.097000	0.15007	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.0:0.6693:0.2063:0.1245	5.308	0.15122	759	0.50631	.;.;.;.	RP11-461A8.4	Nerve_Tibial	TRAP1	Nerve_Tibial	rs117689911	Likely benign	0	0	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	749.33	40	chr16	3390500	.	C	A	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.098;DP=788;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-2.695;SOR=0.543	GT:AD:DP:GQ:PL	0/1:35,34:69:99:763,0,832	18	0	1	0
chr16	5090471	5090471	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.C254T:p.A85V,EEF2KMT:NM_201598:exon4:c.C335T:p.A112V,EEF2KMT:NM_201400:exon5:c.C437T:p.A146V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.027400421216	.	.	0.0009	0.0021	0	0	0	0.0014	0.0011	0	3.84e-05	1	26028	rs138611861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.003	0.79402	D	0.998	0.73220	D	0.953	0.69275	D	0.000003	0.62929	D	0.060535	1	0.81001	D	.	.	.	2.29	0.17113	T	-3.27	0.66436	D	0.759	0.76296	-0.9801	0.34979	T	0.119	0.41735	T	10	0.42871127	0.57347	T	0.027	0.50213	D	0.356	0.67691	.	.	0.0806252709748	0.07271	0.8330921015322947	0.83268	0.107965557009	0.12176	0.666421532631	0.62328	T	0.055803	0.30109	T	0.0576321	0.59315	T	-0.154992	0.58800	T	0.370194643735886	0.27804	T	0.962904	0.86318	D	0.5841019	0.71832	0.59088826	0.76261	0.5841019	0.71833	0.59088826	0.76262	-12.105	0.88376	D	.	.	0.246	0.53959	B	.;.;.	.;.;.	5.255533	0.88239	29.5	0.99929513472156206	0.99279	0.92403	0.55631	D	AEFBCI	0.829083	0.74806	D	0.58335103117389	0.72135	5.758442	0.468895435762112	0.65940	4.887595	0.999423316866275	0.39630	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	8.976000	0.93015	9.845000	0.81950	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	15.221	0.73001	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	41.33	35	chr16	5090471	.	G	A	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.54;MQRankSum=-7.967;QD=0.64;ReadPosRankSum=-1.114;SOR=0.6	GT:AD:DP:GQ:PL	0/1:59,6:65:55:55,0,1690	18	0	1	0
chr16	5090487	5090487	C	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.G238A:p.A80T,EEF2KMT:NM_201598:exon4:c.G319A:p.A107T,EEF2KMT:NM_201400:exon5:c.G421A:p.A141T	.	481	1039	2	0	0	2	0.000961538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0794356980752	.	.	0.0010	0.0021	0	0	0	0.0014	0.0011	0	3.84e-05	1	26028	rs200021489	5.481e-06	5.472e-06	4.09e-06	6.886e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.015	0.61642	D	0.996	0.68779	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.52	0.14160	T	-3.3	0.67824	D	0.879	0.91852	-0.6007	0.64788	T	0.151	0.47839	T	10	0.6091764	0.67346	D	0.079436	0.73235	D	0.463	0.75956	.	.	0.0884992946249	0.08302	0.8228202456130097	0.82239	0.109728385808	0.12372	0.552899539471	0.46266	T	0.076199	0.35361	T	0.200843	0.73971	D	0.0507206	0.73631	D	0.694793283939362	0.40472	D	0.842916	0.53399	T	0.5200874	0.68264	0.5468102	0.73801	0.5200874	0.68265	0.5468102	0.73802	-9.84	0.75041	D	.	.	0.569	0.72425	P	.;.;.	.;.;.	4.789413	0.77707	26.8	0.99869254029507304	0.94726	0.89089	0.49348	D	AEFBCI	0.688126	0.64923	D	0.687485262848653	0.78814	6.947641	0.531205294350284	0.70101	5.455864	0.999423316866275	0.39630	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.059000	0.76386	7.598000	0.61467	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:1.0:0.0:0.0	15.221	0.73001	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	42.33	35	chr16	5090487	.	C	T	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-7.967;QD=0.65;ReadPosRankSum=0;SOR=0.661	GT:AD:DP:GQ:PL	0/1:59,6:65:56:56,0,1520	18	0	1	0
chr16	5090501	5090501	A	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.T224G:p.L75R,EEF2KMT:NM_201598:exon4:c.T305G:p.L102R,EEF2KMT:NM_201400:exon5:c.T407G:p.L136R	.	487	1029	6	0	0	6	0.00290698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.136697632793	.	.	0.0003	0.0006	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs200910524	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.628e-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	1.0	0.90584	D	0.992	0.80445	D	0.001497	0.38855	N	0.174914	1	0.81001	D	.	.	.	2.01	0.21291	T	-5.32	0.85765	D	0.971	0.99015	-0.7700	0.56857	T	0.160	0.49413	T	10	0.873978	0.86679	D	0.136698	0.81919	D	0.591	0.83691	.	.	0.134241683229	0.13084	0.9165450799082177	0.91629	0.132609855297	0.14944	0.679264783859	0.64163	T	0.04435	0.26789	T	0.287606	0.81958	D	0.175349	0.81726	D	0.94880872964859	0.62974	D	0.967103	0.90539	D	0.9055831	0.91887	0.89281845	0.94466	0.9055831	0.91888	0.89281845	0.94466	-10.192	0.80344	D	.	.	0.505	0.70085	A	.;.;.	.;.;.	4.769277	0.77191	26.7	0.99724999690602945	0.82336	0.92352	0.55513	D	AEFBCI	0.897911	0.84061	D	0.646569220021923	0.76148	6.433104	0.555431646659352	0.71775	5.706705	0.922781705020319	0.26720	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	8.360000	0.89993	11.102000	0.86142	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	1.0:0.0:0.0:0.0	12.251	0.53912	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	41.33	35	chr16	5090501	.	A	C	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.104;DP=714;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-7.967;QD=0.64;ReadPosRankSum=1.15;SOR=0.394	GT:AD:DP:GQ:PL	0/1:59,6:65:55:55,0,1701	18	0	1	0
chr16	5090517	5090517	A	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.T208C:p.Y70H,EEF2KMT:NM_201598:exon4:c.T289C:p.Y97H,EEF2KMT:NM_201400:exon5:c.T391C:p.Y131H	.	488	1025	9	0	0	9	0.00437105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00136352432712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159862917	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.255e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.961	0.06427	T	0.0	0.02946	B	0.0	0.01387	B	0.277161	0.15014	N	0.647410	1	0.08975	N	.	.	.	2.32	0.16640	T	3.3	0.00105	N	0.161	0.17691	-0.9643	0.38350	T	0.017	0.07045	T	9	0.08873618	0.15306	T	0.001364	0.01961	T	0.065	0.18881	.	.	0.0297737177859	0.01360	0.41347977157599547	0.41263	0.0543356685128	0.06005	0.488157510757	0.37182	T	0.003775	0.03181	T	-0.340362	0.05362	T	-0.726683	0.04479	T	0.0290493986316793	0.01845	T	0.354665	0.10529	T	0.020190619	0.00569	0.03255367	0.02008	0.020190619	0.00568	0.03255367	0.02008	0.809	0.00158	T	.	.	0.054	0.01600	B	.;.;.	.;.;.	1.277635	0.16773	12.75	0.56654149931442133	0.05599	0.07705	0.13707	N	AEFBCI	0.021174	0.00915	N	-0.823813046246278	0.12703	0.6209043	-0.734696482273677	0.16099	0.8500342	7.50914137985961E-4	0.07741	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	1.695000	0.37381	6.597000	0.56044	-0.105000	0.15698	0.344000	0.25709	1.000000	0.68203	0.030000	0.13115	0.0899:0.1691:0.741:0.0	7.272	0.25437	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	53.33	35	chr16	5090517	.	A	G	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.208;DP=702;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.47;MQRankSum=-7.711;QD=0.87;ReadPosRankSum=1.39;SOR=0.293	GT:AD:DP:GQ:PL	0/1:55,6:61:67:67,0,1600	18	0	1	0
chr16	5090539	5090540	GG	-	exonic	EEF2KMT	.	stopgain	EEF2KMT:NM_001289029:exon3:c.185_186del:p.S62*,EEF2KMT:NM_201598:exon4:c.266_267del:p.S89*,EEF2KMT:NM_201400:exon5:c.368_369del:p.S123*	.	504	976	28	0	14	42	0.0141414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.694e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	87.29	35	chr16	5090538	.	CGG	C	87.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.258;DP=670;ExcessHet=0;FS=4.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.3;MQRankSum=-7.378;QD=1.56;ReadPosRankSum=1.66;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,6:56:99:0|1:5090530_C_T:101,0,2081:5090530	18	0	1	0
chr16	5090540	5090540	G	0	exonic	EEF2KMT	.	.	.	.	513	806	164	18	21	221	0.110375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1568.83	35	chr16	5090540	.	G	*	1568.83	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=672;ExcessHet=1.3;FS=2.959;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.63;SOR=0.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,6:56:99:0|1:5090530_C_T:101,0,2081:5090530	18	0	1	0
chr16	5090561	5090561	G	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.C164G:p.S55W,EEF2KMT:NM_201598:exon4:c.C245G:p.S82W,EEF2KMT:NM_201400:exon5:c.C347G:p.S116W	.	513	980	28	1	0	30	0.0150754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0338618146022	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150027967	3.428e-06	0.0002	4.092e-06	2.756e-06	0.0002	1e-06	7.3e-07	5.871e-05	3.772e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.021	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.013923	0.28688	U	0.324044	0.999999	0.58761	D	.	.	.	3.27	0.17431	T	-4.56	0.82896	D	0.486	0.53620	-1.1545	0.00897	T	0.072	0.29323	T	10	0.60828525	0.67299	D	0.033862	0.55276	D	0.190	0.46781	.	.	0.193865811164	0.18958	0.5515873003850684	0.55084	0.0597941320021	0.06652	0.542487621307	0.44796	T	0.163386	0.50842	T	-0.0469236	0.44913	T	-0.305179	0.44175	T	0.937942743301392	0.60815	D	0.686031	0.65873	T	0.14838506	0.33877	0.22992988	0.48080	0.14838506	0.33877	0.22992988	0.48079	-6.987	0.71412	T	.	.	0.16	0.35372	B	.;.;.	.;.;.	3.523737	0.49411	22.8	0.98956090738795988	0.49227	0.70892	0.34780	D	AEFBCI	0.296195	0.40611	N	0.461205453111896	0.64842	4.748037	0.357761579600421	0.58977	4.071827	0.0726830191689696	0.15609	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	3.088000	0.49873	3.969000	0.40810	-0.725000	0.03763	0.746000	0.29090	1.000000	0.68203	0.000000	0.00833	0.0:0.0:1.0:0.0	15.221	0.73001	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	118.33	35	chr16	5090561	.	G	C	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.385;DP=545;ExcessHet=0;FS=4.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.97;MQRankSum=-6.662;QD=2.57;ReadPosRankSum=-0.131;SOR=0.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,6:46:99:0|1:5090561_G_C:132,0,1641:5090561	18	0	1	0
chr16	21198874	21198874	T	C	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376233:exon17:c.A1949G:p.H650R	.	.	.	.	.	.	.	.	0.0001	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000599042	0.0001	0	9.39e-05	0.0001	0	3.328e-05	0.0012	0.0005	0.00011	17	154602	rs200053919	6.094e-05	6.088e-05	4.36e-05	7.846e-05	0.0007	5.033e-05	4.676e-05	0.0006	0.0005	0	0	0	0.0003	0	0	4.5e-06	0.0001	0.0007	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	42	chr16	21198874	.	T	C	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=743;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.103;SOR=0.58	GT:AD:DP:GQ:PL	0/1:46,38:84:99:789,0,1046	18	0	1	0
chr16	21404907	21404907	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	6.916e-05	0.0001	8.781e-05	0	0	9.476e-05	0	0	0.0001921	5	26028	rs568836414	6.079e-05	0.0002	6.601e-05	5.553e-05	0.0002	5.01e-05	4.672e-05	0.0001	7.437e-05	8.999e-05	0.0002	0	0.0002	4.474e-05	0	5.045e-05	0.0001	5.82e-05	0.0001	0.0002	0.0002	9.896e-05	0.0003	8.535e-05	7.029e-05	0.0001	8.737e-05	2.579e-05	0	0.0003	0	0	0.0001	0	0.0002	0.0005	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	2811.81	186	chr16	21404907	.	G	A	2811.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=2152;ExcessHet=0.119;FS=0.695;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=37.65;MQRankSum=-0.013;QD=3.68;ReadPosRankSum=4.93;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,160:511:99:0|1:21404907_G_A:2718,0,10399:21404907	18	0	1	0
chr16	23352930	23352930	C	G	exonic	SCNN1B	.	nonsynonymous SNV	SCNN1B:NM_000336:exon3:c.C441G:p.H147Q	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00858263491132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156486124	2.736e-06	2.736e-06	2.722e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.743	0.04162	T	0.233	0.27503	T	0.007	0.14184	B	0.005	0.11217	B	0.448356	0.12539	N	0.736227	0.649582	0.32951	D	0.5	0.13406	N	-0.33	0.69777	T	-0.1	0.18459	N	0.136	0.22742	-0.8269	0.53499	T	0.209	0.56839	T	10	0.10546732	0.19496	T	0.008583	0.22680	T	0.094	0.27141	0.544	0.65731	0.751991407244	0.74975	0.3746822092804489	0.37382	0.14834148217	0.16729	0.365117490292	0.20128	T	0.122372	0.44600	T	-0.209108	0.19506	T	-0.538145	0.18478	T	0.0342948576571574	0.02687	T	0.636736	0.25039	T	0.12487112	0.29286	0.054455858	0.09369	0.12487112	0.29286	0.054455858	0.09368	-3.239	0.13000	T	.	.	0.133	0.29450	B	.;.;.;.	.;.;.;.	0.375081	0.07474	4.111	0.80896556308779133	0.13421	0.47197	0.27929	N	AEFDBI	0.073347	0.14667	N	-0.440710105284364	0.24056	1.296252	-0.343018907334126	0.26725	1.478068	0.00280367888449903	0.09719	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	3.02	0.33970	0.150000	0.16082	0.100000	0.14636	-0.182000	0.10109	0.859000	0.30595	0.821000	0.27127	0.923000	0.45890	0.0:0.686:0.1498:0.1642	7.253	0.25333	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3150.33	33	chr16	23352930	.	C	G	3150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.092;DP=882;ExcessHet=0;FS=8.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.183;SOR=0.685	GT:AD:DP:GQ:PL	0/1:111,130:241:99:3164,0,2605	18	0	1	0
chr16	27225174	27225174	G	A	exonic	NSMCE1	.	nonsynonymous SNV	NSMCE1:NM_145080:exon8:c.C784T:p.R262W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	8.1e-05	0.000199681	0.0007	0	0	0.0002	0.0125	0.0005	0.0044	0	0.0003493	54	154602	rs181117005	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	6.111e-05	5.49e-05	3.004e-05	0	0	0	0.0047	0.0003	7.246e-05	0.0004	5.92e-05	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0001	0	0	0	0	0	0.0043	0	0.0003	0	0	0.001	0.78490	D	0.007	0.69154	D	0.999	0.77913	D	0.93	0.66466	D	0.004356	0.33837	N	0.221463	1	0.08975	N	2.34	0.67151	M	-1.75	0.83495	D	-3.81	0.71882	D	0.516	0.54671	-0.3980	0.72090	T	0.520	0.82076	D	10	0.011602968	0.00253	T	.	.	.	0.355	0.67600	.	.	0.950061248517	0.94953	0.37654606371091975	0.37568	1.24148029307	0.81577	0.503971815109	0.39381	T	0.093284	0.39180	T	-0.163747	0.26185	T	-0.09102	0.64085	T	0.112274258558779	0.13657	T	0.90121	0.65680	D	0.15934668	0.35799	0.18529344	0.41634	0.15934668	0.35799	0.18529344	0.41633	-8.824	0.66557	D	.	.	0.143	0.31482	B	.	.	3.806689	0.54888	23.5	0.9984438211584582	0.92403	0.16628	0.19476	N	AEFDBCI	0.169194	0.29601	N	-0.0595900756056169	0.39175	2.305998	-0.215937930205707	0.30964	1.748036	0.999741100252321	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.98	3.0	0.33773	1.484000	0.35116	3.638000	0.39337	0.676000	0.76740	0.151000	0.23669	1.000000	0.68203	0.393000	0.26625	0.0:0.0:0.7799:0.2201	8.984	0.35144	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	43	chr16	27225174	.	G	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.194;SOR=0.737	GT:AD:DP:GQ:PL	0/1:67,75:142:99:1766,0,1536	18	0	1	0
chr16	28866221	28866221	C	T	exonic	SH2B1	.	nonsynonymous SNV	SH2B1:NM_015503:exon1:c.C127T:p.R43C,SH2B1:NM_001145795:exon2:c.C127T:p.R43C,SH2B1:NM_001145796:exon2:c.C127T:p.R43C,SH2B1:NM_001145797:exon2:c.C127T:p.R43C,SH2B1:NM_001145812:exon2:c.C127T:p.R43C,SH2B1:NM_001308293:exon4:c.C127T:p.R43C	.	408	1111	3	0	0	3	0.00134831	.	.	.	3221845	SH2B1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.432622067171	.	0.000599042	4.019e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs547678855	1.922e-05	1.984e-05	1.638e-05	2.208e-05	0.0002	1.333e-05	1.147e-05	7.73e-05	5.317e-05	0.0002	0	0	0	0	0	1.62e-05	4.989e-05	1.165e-05	7.23e-05	7.219e-05	0.0001	4.034e-05	0.0002	3.972e-05	3.128e-05	0.0001	9.925e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0	0.004	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000004	0.62929	D	0.000000	0.998077	0.81001	D	1.83	0.48079	L	0.64	0.52867	T	-4.8	0.80767	D	0.592	0.61511	-0.6112	0.64354	T	0.234	0.60051	T	10	0.18670884	0.34148	T	0.432622	0.94011	D	0.363	0.68319	.	.	0.168254554758	0.16434	0.574711483745511	0.57400	1.01552359197	0.74930	0.690899193287	0.65836	T	0.160863	0.80865	T	-0.136724	0.30414	T	-0.149457	0.59292	T	0.772251129150391	0.44574	D	0.865513	0.67021	D	0.4502245	0.64055	0.42781729	0.66515	0.4502245	0.64055	0.42781729	0.66515	-9.14	0.69038	D	.	.	0.185	0.60826	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.628681	0.73573	26.0	0.99877399776922005	0.95410	0.79099	0.39132	D	AEFDBHCI	0.422186	0.48829	N	0.317685529226356	0.57054	3.871651	0.267278741423177	0.53639	3.53182	0.999999938443174	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.64	4.64	0.57399	1.699000	0.37423	2.754000	0.34556	0.545000	0.25583	0.504000	0.26986	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.265	0.82394	289	0.88525	Phenylalanine zipper;Phenylalanine zipper;.;Phenylalanine zipper;Phenylalanine zipper;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33	chr16	28866221	.	C	T	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=695;ExcessHet=0;FS=2.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.025;SOR=0.399	GT:AD:DP:GQ:PL	0/1:34,34:68:99:821,0,788	18	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,23:115:99:1|0:29485610_ACACACTC_A:858,0,3280:29485610	5	0	12	2
chr16	29810109	29810117	GCGGCAGCG	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.397_405del:p.A141_A143del,MAZ:NM_002383:exon5:c.1312_1320del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1243_1251del:p.A423_A425del	.	326	1004	17	0	175	192	0.00839506	.	.	.	2807783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0259	.	0.0042	0.0042	0.0036	0.0083	0.0010	0.0043	0.0013	0.0038	6.47e-05	10	154602	rs780065474	0.0028	0.0028	0.0028	0.0029	0.0230	0.0028	0.0027	0.0196	0.0183	0.0044	0.0043	0.0060	0.0041	0.0012	0.0230	0.0025	0.0043	0.0038	0.0032	0.0032	0.0034	0.0030	0.0086	0.0029	0.0029	0.0066	0.0059	0.0032	0	0.0061	0.0045	0.0086	0.0009	0.0188	0.0024	0.0030	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1468.78	44	chr16	29810108	.	AGCGGCAGCG	A	1468.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:62,41:103:99:1482,0,2340	18	0	1	0
chr16	30223129	30223129	C	T	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB13:NM_001321892:exon9:c.G3317A:p.R1106Q,NPIPB12:NM_001355401:exon11:c.G2687A:p.R896Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0566419822455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280636106	0.0004	0.0012	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0012	0.0005	0.0005	0.0001	0.0005	0	0.0003	0.0006	0.0006	0.0007	0.0007	0.0006	0.0008	0.0013	0.0001	4.8e-05	.	.	0.0006	0	0	0	0	0	0	0.0013	0	0	0.034	0.52492	D	0.011	0.64786	D	0.829	0.46068	P	0.614	0.51198	P	.	.	.	.	.	.	.	.	.	.	1.99	0.21666	T	-1.02	0.38540	N	0.068	0.04913	-1.0420	0.16711	T	0.053	0.22578	T	4	0.0057977736	0.00129	T	0.056642	0.66679	D	0.044	0.11924	.	.	0.0954503805726	0.09146	2.0962268660047775E-4	0.00018	.	.	.	.	.	0.02254	0.17359	T	-0.308668	0.07866	T	-0.681156	0.06914	T	0.115757460438805	0.14011	T	0.674133	0.28269	T	0.0819776	0.18862	0.10508846	0.25254	0.0819776	0.18862	0.10508846	0.25253	-7.79	0.59630	D	.	.	0.334	0.55528	B	.;.	.;.	1.900370	0.24136	16.28	0.99549346003346539	0.71023	0.00125	0.00780	N	AEFI	0.051310	0.09054	N	-0.411748019342282	0.25056	1.357388	-0.595556283821483	0.19608	1.052793	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.064000	0.14310	0.341000	0.17381	0.078000	0.17572	0.073000	0.22155	0.012000	0.20211	0.083000	0.17415	.	.	.	263	0.89692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	33.73	1	chr16	30223129	.	C	T	33.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=80;ExcessHet=0;FS=4.771;InbreedingCoeff=0.1025;MLEAC=1;MLEAF=0.028;MQ=22.05;MQRankSum=0.967;QD=11.24;ReadPosRankSum=-0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,2:3:16:46,0,16	17	0	1	1
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	1/1:0,62:62:99:1833,186,0	17	1	1	0
chr16	31915900	31915900	A	G	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.A1651G:p.K551E,ZNF267:NM_001265588:exon5:c.A1555G:p.K519E	.	385	1134	3	0	0	3	0.001321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000909984398893	.	.	4.143e-05	0	0	0	0	7.517e-05	0	0	3.88e-05	6	154602	rs772346336	4.037e-05	4.036e-05	3.54e-05	4.539e-05	0.0002	3.179e-05	2.911e-05	3.89e-05	3.49e-05	0	4.474e-05	0	0	0	0.0002	4.946e-05	1.656e-05	0	5.256e-05	5.253e-05	3.854e-05	6.723e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	1.0	0.00964	T	0.955	0.02582	T	0.018	0.17786	B	0.01	0.14941	B	.	.	.	.	0.998658	0.22008	N	-0.63	0.02141	N	3.18	0.07478	T	1.18	0.01107	N	0.105	0.08925	-0.9167	0.45997	T	0.007	0.02439	T	9	0.015115678	0.00317	T	9.1E-4	0.00866	T	0.014	0.01968	.	.	0.0482279557977	0.04254	0.01625344244876755	0.01581	0.193545837597	0.21686	0.262801319361	0.05228	T	0.002311	0.01710	T	-0.443512	0.01233	T	-0.694555	0.06128	T	0.0189430002930534	0.00604	T	0.00779922	0.00034	T	0.05590124	0.10925	0.05500806	0.09568	0.05590124	0.10925	0.05500806	0.09568	-5.162	0.38553	T	.	.	0.111	0.21653	B	.	.	0.517181	0.08858	5.639	0.58461909037290327	0.05999	0.00006	0.00120	N	AEFDGBHCI	0.022301	0.01098	N	-1.69284502669492	0.00867	0.03753082	-1.73964248462268	0.00973	0.04357903	0.573568218643146	0.21512	0.706548	0.73137	0	0.697927	0.68747	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	0.458	-0.707	0.10679	-1.480000	0.02430	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.6992:0.0:0.3008:0.0	3.883	0.08591	680	0.59965	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1539.33	41	chr16	31915900	.	A	G	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=829;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.9;QD=14.39;ReadPosRankSum=-0.231;SOR=0.609	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1553,0,1294	18	0	1	0
chr16	57459679	57459679	C	T	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon7:c.C826T:p.R276W	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	0	1489	31	2	0	35	0.0116163	.	.	.	375490	Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome|not_provided	MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.886	.	0.0012	0.00419329	0.0040	9.621e-05	0.0011	0.0002	0.0145	0.0030	0.0066	0.0098	0.0035899	555	154602	rs143587648	0.0023	0.0023	0.0021	0.0025	0.0086	0.0022	0.0022	0.0081	0.0079	0.0002	0.0013	0.0052	7.557e-05	0.0142	0.0066	0.0013	0.0029	0.0086	0.0029	0.0029	0.0023	0.0035	0.0089	0.0027	0.0026	0.0068	0.0061	0.0002	0	0.0024	0.0063	0	0.0145	0.0068	0.0025	0.0028	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.054147	0.999885	0.81001	D	4.07	0.97156	H	.	.	.	-7.73	0.95732	D	0.954	0.96302	0.047	0.83182	D	0.466	0.79394	T	9	0.01753962	0.00375	T	.	.	.	0.886	0.96688	.	.	0.510172456258	0.50658	0.9256845987477227	0.92545	0.691221074045	0.60582	0.667912483215	0.62540	T	0.438465	0.82265	T	0.118015	0.66173	D	0.403567	0.92227	D	0.16609237826268	0.18310	T	0.957704	0.84340	D	0.9400331	0.95251	0.92282975	0.96596	0.9594381	0.97224	0.9206049	0.96441	-13.55	0.91502	D	0.8294326259952107	0.90059	0.661	0.85467	P	.;.;.;.	.;.;.;.	4.650829	0.74135	26.1	0.9988109784762742	0.95733	0.93821	0.59288	D	AEFBI	0.903618	0.85292	D	0.483961660391481	0.66152	4.913476	0.373120141421248	0.59912	4.173353	0.996397423921556	0.34715	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	2.44	0.28875	2.238000	0.42719	2.224000	0.31475	-0.223000	0.07921	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.3377:0.5487:0.1136:0.0	9.525	0.38322	665	0.61472	COQ9;COQ9;COQ9;COQ9	.	.	.	.	rs143587648	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	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.011364	0.02632	1582.33	36	chr16	57459679	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=760;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.038;SOR=0.843	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1596,0,1387	18	0	1	0
chr16	57753131	57753131	C	T	exonic	KATNB1	.	nonsynonymous SNV	KATNB1:NM_005886:exon11:c.C910T:p.R304C	Lissencephaly 6, with microcephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1305047	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.093163241219	.	.	3.373e-05	0	0	0	0	6.164e-05	0	0	0.0001921	5	26028	.	2.605e-05	2.805e-05	3.137e-05	2.067e-05	0.0002	1.936e-05	1.695e-05	3.35e-05	1.982e-05	0	2.239e-05	7.662e-05	0.0001	0	0.0002	2.249e-05	6.629e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.004	0.65419	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.45	0.56446	T	-3.8	0.71762	D	0.792	0.78832	-0.4894	0.69030	T	0.305	0.67603	T	10	0.7396673	0.74867	D	0.093163	0.76022	D	0.406	0.71869	0.499	0.58991	0.683924616203	0.68122	0.5133707793466322	0.51259	0.773961178241	0.64921	0.709570229053	0.68531	T	0.227368	0.59264	T	0.0236178	0.54868	T	-0.0961941	0.63691	T	0.939059495925903	0.61019	D	0.953705	0.82322	D	0.38412842	0.59613	0.22743152	0.47753	0.38412842	0.59613	0.22743152	0.47752	-8.924	0.67207	D	.	.	0.185	0.40065	B	.	.	4.180035	0.62914	24.5	0.99810998107114235	0.89442	0.71676	0.35116	D	AEFDBCI	0.421143	0.48768	N	0.102583545791392	0.46583	2.896456	-0.0203798596520738	0.38795	2.290834	0.989208280027133	0.31753	0.732398	0.92422	0	0.709663	0.81188	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.95	2.9	0.32809	1.878000	0.39244	2.908000	0.35491	-0.316000	0.05924	0.885000	0.31090	0.994000	0.32194	0.546000	0.30079	0.4735:0.5265:0.0:0.0	12.443	0.54971	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1409.33	45	chr16	57753131	.	C	T	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.834;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.351;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1423,0,1191	18	0	1	0
chr16	69692516	69692516	-	CAG	exonic	NFAT5	.	nonframeshift insertion	NFAT5:NM_001367709:exon12:c.2016_2017insCAG:p.Q681_V682insQ,NFAT5:NM_006599:exon12:c.2637_2638insCAG:p.Q888_V889insQ,NFAT5:NM_001113178:exon13:c.2688_2689insCAG:p.Q905_V906insQ,NFAT5:NM_138713:exon13:c.2691_2692insCAG:p.Q906_V907insQ,NFAT5:NM_173214:exon13:c.2409_2410insCAG:p.Q812_V813insQ,NFAT5:NM_173215:exon13:c.2409_2410insCAG:p.Q812_V813insQ,NFAT5:NM_138714:exon14:c.2409_2410insCAG:p.Q812_V813insQ	.	397	1118	6	0	1	7	0.00267618	.	.	.	570389	not_provided|Immunodeficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	6.665e-05	0	0.0002	0	0	3.03e-05	0	0.0002	3.84e-05	1	26028	rs773250291	4.183e-05	4.251e-05	3.411e-05	4.963e-05	0.0001	3.318e-05	3.008e-05	5.806e-05	4.042e-05	0	0.0001	3.859e-05	0.0001	0	0	3.696e-05	0	0.0001	1.975e-05	1.973e-05	1.288e-05	2.694e-05	1.474e-05	5.25e-06	2.46e-06	.	.	0	0	0	0	0	0	0.0068	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1595.29	34	chr16	69692516	.	A	ACAG	1595.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=746;ExcessHet=0;FS=3.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-2.037;SOR=0.875	GT:AD:DP:GQ:PL	0/1:65,43:108:99:1609,0,2504	18	0	1	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.02632	572.33	34	chr16	70132237	.	A	G	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=732;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.85;MQRankSum=-0.012;QD=6.02;ReadPosRankSum=-2.278;SOR=0.72	GT:AD:DP:GQ:PL	0/1:67,28:95:99:586,0,1628	18	0	1	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP 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	1044.33	463	chr16	70177319	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=2646;ExcessHet=0;FS=1.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.57;MQRankSum=-3.66;QD=3.63;ReadPosRankSum=-1.696;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,43:288:99:0|1:70177319_G_A:1058,0,10158:70177319	18	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP 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	1058.33	510	chr16	70177328	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=3427;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.56;MQRankSum=-3.706;QD=3.44;ReadPosRankSum=-1.628;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,46:308:99:0|1:70177319_G_A:1072,0,10691:70177319	18	0	1	0
chr16	71069386	71069386	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon14:c.C1936T:p.H646Y,HYDIN:NM_001198543:exon14:c.C1906T:p.H636Y,HYDIN:NM_001270974:exon14:c.C1855T:p.H619Y,HYDIN:NM_017558:exon14:c.C1855T:p.H619Y	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	2817733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00217146394401	0.0012	0.000599042	0.0012	0.0004	0.0011	0	0.0003	0.0017	0.0011	0.0007	0.0008837	23	26028	rs144124863	0.0010	0.0010	0.0009	0.0010	0.0090	0.0009	0.0009	0.0071	0.0064	0.0002	0.0016	0.0081	0	0.0002	0.0090	0.0008	0.0020	0.0006	0.0011	0.0011	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0098	0	0	0.0170	0.0011	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.088968	0.02434	N	2.572970	1	0.08975	N	-1.1	0.00987	N	5.6	0.05989	T	-0.36	0.13035	N	0.087	0.06454	-0.9837	0.34140	T	0.010	0.03492	T	10	0.0025181174	0.00038	T	0.002171	0.04071	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.10813125051761875	0.10742	.	.	0.301112771034	0.10566	T	0.038342	0.24807	T	-0.60264	0.00141	T	-0.668506	0.07704	T	0.00890760338183509	0.00111	T	.	.	.	0.033103418	0.03464	0.04666248	0.06552	0.03027777	0.02663	0.046069797	0.06338	-6.149	0.49587	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	-0.888746	0.00944	0.036	0.15403906447541041	0.00375	0.02540	0.07059	N	AEFDBCI	0.045511	0.07451	N	-2.16966490958107	0.00090	0.003832085	-2.17309161829622	0.00129	0.00565431	0.999999981858464	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.98	-8.22	0.00910	-0.767000	0.04826	0.122000	0.14930	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1356:0.305:0.0816:0.4778	3.155	0.06112	679	0.60090	.;.;.;.;.	.	.	.	.	.	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	0.007553	0.000000	0.012228	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	1822.33	35	chr16	71069386	.	G	A	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.351;DP=805;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.29;MQRankSum=-4.176;QD=12.31;ReadPosRankSum=-0.043;SOR=0.638	GT:AD:DP:GQ:PL	0/1:65,83:148:99:1836,0,1479	18	0	1	0
chr16	71860379	71860379	C	T	exonic	ZNF821	.	nonsynonymous SNV	ZNF821:NM_017530:exon6:c.G752A:p.R251Q,ZNF821:NM_001201553:exon7:c.G878A:p.R293Q,ZNF821:NM_001201554:exon7:c.G752A:p.R251Q,ZNF821:NM_001318239:exon7:c.G428A:p.R143Q,ZNF821:NM_001376300:exon7:c.G752A:p.R251Q,ZNF821:NM_001201552:exon8:c.G878A:p.R293Q,ZNF821:NM_001318238:exon8:c.G428A:p.R143Q,ZNF821:NM_001376297:exon8:c.G878A:p.R293Q,ZNF821:NM_001376299:exon8:c.G878A:p.R293Q,ZNF821:NM_001376298:exon9:c.G878A:p.R293Q	.	.	.	.	.	.	.	.	.	.	.	3636035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0135822701618	.	.	8.319e-06	9.86e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753358133	4.111e-06	4.104e-06	2.727e-06	5.508e-06	0.0002	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	6.57e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.0	0.92824	D	0.997	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	4.38	0.02255	T	-1.04	0.27259	N	0.537	0.64818	-1.1857	0.00292	T	0.027	0.11707	T	10	0.2937452	0.46948	T	0.013582	0.33091	T	0.226	0.52472	0.294	0.25720	0.344710718752	0.34073	0.9224290848874933	0.92219	2.09006224248	0.94723	0.780083417892	0.78940	T	0.163127	0.50806	T	-0.00593466	0.50832	T	-0.0641543	0.66040	T	0.574101410525555	0.35392	D	0.978169	0.92312	D	0.36121067	0.57928	0.25970381	0.51722	0.36121067	0.57929	0.25970381	0.51721	-8.632	0.65300	D	.	.	0.847	0.79600	P	.;.;.;.;.	.;.;.;.;.	5.501727	0.91592	32	0.99929800127756163	0.99279	0.98763	0.86538	D	AEFDBI	0.747480	0.68952	D	0.730329538238513	0.81622	7.565274	0.734774105504591	0.85016	8.456361	0.999999999826731	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.75	5.75	0.90390	4.538000	0.60361	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.935	0.97138	81	0.96616	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	chr16	71860379	.	C	T	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=747;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.371;SOR=0.788	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1276,0,1706	18	0	1	0
chr16	74391811	74391811	C	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon7:c.C1063A:p.P355T	.	402	1114	6	0	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00508164061134	.	.	0.0008	0.0002	8.859e-05	0	0	0	0.0011	0.0059	0.0006468	100	154602	rs770929934	0.0002	0.0003	0.0001	0.0003	0.0038	0.0002	0.0002	0.0034	0.0033	2.99e-05	2.244e-05	0	0	0	0	2.7e-06	0.0003	0.0038	0.0002	0.0003	0.0001	0.0003	0.0042	0.0001	0.0001	0.0028	0.0023	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0042	0.003	0.68238	D	0.287	0.21210	T	.	.	.	.	.	.	.	.	.	.	0.999869	0.19989	N	.	.	.	0.24	0.59583	T	-3.41	0.67129	D	0.08	0.05542	-1.0174	0.24560	T	0.083	0.32556	T	8	0.0070266724	0.00160	T	0.005082	0.12877	T	0.057	0.16321	.	.	0.167679373172	0.16340	0.020914965156666313	0.02044	0.301826712616	0.32518	.	.	.	0.062392	0.31904	T	-0.442323	0.01253	T	-0.407877	0.32469	T	0.0635043826684589	0.07708	T	0.514049	0.16524	T	0.12680362	0.29690	0.16435306	0.38077	0.12680362	0.29690	0.16435306	0.38076	-4.997	0.36808	T	.	.	0.096	0.15206	B	.	.	1.488260	0.19146	14.11	0.91035757297523001	0.20287	0.00620	0.02740	N	AEFBI	0.056817	0.10534	N	-0.895406994819504	0.10951	0.5259393	-1.10547251405674	0.07595	0.370048	2.69290392077344E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	.	.	.	0.064000	0.14310	-1.274000	0.05845	0.078000	0.17572	0.032000	0.20554	0.001000	0.17328	0.035000	0.13729	0.0:0.505:0.0:0.495	2.664	0.04729	704	0.57414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1123.33	423	chr16	74391811	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=5606;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-0.082;QD=3.7;ReadPosRankSum=-2.279;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,66:304:99:1|0:74391804_G_A:1137,0,7545:74391804	18	0	1	0
chr16	74412220	74412220	C	T	exonic	CLEC18B	.	nonsynonymous SNV	CLEC18B:NM_001385195:exon6:c.G571A:p.G191S,CLEC18B:NM_001011880:exon7:c.G811A:p.G271S,CLEC18B:NM_001385193:exon7:c.G811A:p.G271S,CLEC18B:NM_001385194:exon7:c.G571A:p.G191S,CLEC18B:NM_001385192:exon8:c.G811A:p.G271S	.	552	965	5	0	0	5	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	.	.	.	0.0009	0.0021	0	0	0.1667	0	0	0	1.94e-05	3	154602	rs778849822	0.0001	0.0005	0.0001	0.0001	0.0011	9.499e-05	9.01e-05	0.0008	0.0007	0.0011	7.609e-05	7.915e-05	0	0.0006	0.0002	4.384e-05	0.0002	0.0003	0.0005	0.0013	0.0005	0.0005	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0	0	0.0002	0.0013	0	2.943e-05	0.0019	0.0002	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.992977	0.41798	D	2.455	0.71248	M	1.19	0.37578	T	-2.87	0.60348	D	0.643	0.77132	-0.9441	0.41960	T	0.137	0.45356	T	10	0.0063061416	0.00142	T	.	.	.	0.377	0.69527	.	.	0.0666544352282	0.05500	0.4660329860893548	0.46522	.	.	0.629212737083	0.57033	T	0.12052	0.44281	T	-0.0404569	0.45880	T	-0.29589	0.45157	T	0.090072830428945	0.11227	T	0.892211	0.63238	D	0.37819257	0.59186	0.38424632	0.63370	0.37819257	0.59186	0.38424632	0.63370	-12.278	0.86178	D	.	.	0.312	0.57769	B	.;.;.;.	.;.;.;.	4.880005	0.80021	27.2	0.99797190178743911	0.88194	0.94067	0.60012	D	AEFBI	0.621862	0.60640	D	0.343092096213623	0.58374	4.009408	0.259169240751705	0.53173	3.487549	0.0795629507884838	0.15821	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.28	3.28	0.36691	6.181000	0.71922	5.852000	0.50347	0.301000	0.18947	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.0:1.0:0.0:0.0	9.929	0.40676	708	0.56926	EGF-like domain;EGF-like domain;EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	57.94	5	chr16	74412220	.	C	T	57.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=150;ExcessHet=0;FS=0;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.028;MQ=28.6;MQRankSum=0;QD=14.49;ReadPosRankSum=0.674;SOR=0.148	GT:AD:DP:GQ:PL	0/1:2,2:4:47:47,0,53	17	0	1	1
chr16	81101254	81101254	G	C	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0005	0.0001	0.0002	0	0.0002	0.0008	0	0	0.0004528	70	154602	rs200781895	0.0007	0.0007	0.0007	0.0007	0.0012	0.0007	0.0006	0.0008	0.0008	8.962e-05	0.0005	0.0005	2.52e-05	0.0001	0.0012	0.0008	0.0006	2.32e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0009	0.0006	0	0	0	0.0008	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	1095.33	33	chr16	81101254	.	G	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=701;ExcessHet=0;FS=5.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.729;SOR=1.329	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1109,0,743	18	0	1	0
chr16	88428146	88428146	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G676A:p.E226K	Brittle cornea syndrome 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1295011	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.707013312213	.	0.000199681	6.795e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs546141859	6.367e-05	6.088e-05	4.376e-05	8.413e-05	0.0006	5.258e-05	4.885e-05	0.0004	0.0004	0	0.0001	0	0	4.178e-05	0.0004	2.039e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0011	9.146e-05	7.702e-05	0.0007	0.0006	2.407e-05	0	0.0011	0	0.0002	0	0	0	0.0005	0.0002	0.087	0.32453	T	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.18	0.30140	N	0.168	0.37923	-1.0125	0.26133	T	0.021	0.08686	T	9	0.14747176	0.27942	T	0.707013	0.97611	D	0.195	0.47612	0.141	0.04462	0.289474373501	0.28556	0.1906535961555458	0.18983	.	.	0.593420624733	0.51977	T	0.019442	0.15489	T	-0.494393	0.00615	T	-0.613787	0.11678	T	0.137022718787193	0.16016	T	0.666633	0.27564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37178	B	.;.	.;.	2.513633	0.32468	19.05	0.9894185866897327	0.48959	0.72580	0.35520	D	AEFBI	0.121573	0.23630	N	-0.374413681943002	0.26385	1.439525	-0.486274892300509	0.22530	1.224221	0.00472896728562463	0.10688	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.34	-0.176	0.12658	3.197000	0.50730	3.642000	0.39350	-0.155000	0.11859	0.996000	0.39380	0.995000	0.32472	0.013000	0.09966	0.2746:0.1492:0.5763:0.0	5.195	0.14558	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1099.33	34	chr16	88428146	.	G	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.542;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.66;SOR=0.732	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1113,0,1067	18	0	1	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1525,0,1555	16	0	3	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.1053	2783.43	33	chr16	89767168	.	G	C	2783.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.568;DP=751;ExcessHet=0.7564;FS=0.482;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.284;SOR=0.739	GT:AD:DP:GQ:PL	0/1:31,38:69:99:955,0,735	15	0	4	0
chr16	90031430	90031430	G	T	exonic	GAS8	.	nonsynonymous SNV	GAS8:NM_001286209:exon3:c.G147T:p.K49N,GAS8:NM_001481:exon3:c.G222T:p.K74N	Ciliary dyskinesia, primary, 33, Autosomal recessive	417	1099	6	0	0	6	0.00272232	.	.	.	937694	Primary_ciliary_dyskinesia_33	MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.150	0.0336479847583	7.7e-05	0.000798722	0.0004	0	0.0001	0	0	0.0003	0	0.0017	0.0002975	46	154602	rs141234041	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0	0.0001	0.0009	2.526e-05	0	0.0016	0.0001	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	4.812e-05	0	0.0002	0.0009	0	0	0.0102	0.0002	0.0005	0.0021	0.014	0.54683	D	0.056	0.48080	T	0.611	0.39680	P	0.287	0.40572	B	0.000001	0.62929	D	0.129061	0.99986	0.50061	D	.	.	.	1.31	0.35590	T	-3.03	0.65858	D	0.376	0.41853	-0.7338	0.58771	T	0.172	0.51405	T	9	0.017458677	0.00373	T	0.033648	0.55129	D	0.150	0.39571	0.161	0.06507	0.411401001288	0.40751	0.3512760226762667	0.35041	0.0503716393686	0.05528	0.757091760635	0.75496	T	0.139446	0.47347	T	-0.378326	0.03192	T	-0.346294	0.39628	T	0.0876761991190783	0.10939	T	0.868613	0.57103	D	0.40671882	0.61195	0.38539883	0.63457	0.39318854	0.60258	0.3447799	0.60170	-10.057	0.76830	D	.	.	0.627	0.69975	P	.;.;.	.;.;.	3.308495	0.45448	22.1	0.9408440502696358	0.24236	0.92052	0.54838	D	AEFDBI	0.406341	0.47887	N	0.174013928631977	0.49953	3.190236	0.119958214712683	0.45572	2.817899	0.219354231510968	0.18337	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	0.461	0.15901	0.672000	0.24868	3.710000	0.39553	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.4309:0.0:0.5691:0.0	11.062	0.47171	754	0.51307	.;.;.	.	.	.	.	.	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	1504.33	38	chr16	90031430	.	G	T	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.242;SOR=0.744	GT:AD:DP:GQ:PL	0/1:41,59:100:99:1518,0,851	18	0	1	0
chr17	2334645	2334647	CCA	-	exonic	TSR1	.	nonframeshift deletion	TSR1:NM_018128:exon5:c.806_808del:p.V269del	.	432	1086	4	0	0	4	0.00183824	.	.	.	3206876	TSR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0041	0.00139776	0.0024	0.0011	0.0019	0	0.0015	0.0034	0.0011	0.0010	0.0003458	9	26028	rs570684854	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0051	0.0050	0.0008	0.0024	0.0018	0	0.0007	0.0020	0.0052	0.0040	0.0014	0.0030	0.0030	0.0029	0.0031	0.0048	0.0028	0.0027	0.0044	0.0042	0.0008	0	0.0038	0.0023	0	0.0014	0	0.0048	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1612.29	33	chr17	2334644	.	CCCA	C	1612.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.186;DP=726;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-1.724;SOR=0.635	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1626,0,1220	18	0	1	0
chr17	2730463	2730463	G	T	exonic	CCDC92B	.	nonsynonymous SNV	CCDC92B:NM_001355573:exon3:c.C161A:p.A54D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.72	4	chr17	2730463	.	G	T	40.72	.	AC=2;AF=0.143;AN=14;DP=19;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;QD=20.36;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	12
chr17	4809713	4809713	T	C	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon8:c.T637C:p.S213P,PLD2:NM_002663:exon8:c.T637C:p.S213P	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0161689175535	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749614832	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.211	0.27235	T	0.853	0.47048	P	0.505	0.47795	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	3.09	0.08371	T	-3.28	0.65627	D	0.903	0.90818	-1.1711	0.00518	T	0.064	0.26632	T	10	0.8096962	0.80268	D	0.016169	0.37293	T	0.346	0.66769	0.534	0.64293	0.546131560702	0.54268	0.7549740081364229	0.75444	0.694474038054	0.60769	0.621962785721	0.56006	T	0.287494	0.66029	T	0.192661	0.73210	D	0.0389673	0.72860	D	0.921865135752122	0.58172	D	0.911109	0.68490	D	0.570529	0.71090	0.5810265	0.75714	0.570529	0.71091	0.5810265	0.75715	-7.118	0.54890	T	.	.	0.816	0.82667	P	.;.	.;.	4.621388	0.73381	26.0	0.99830051529963915	0.91198	0.97750	0.76862	D	AEFBI	0.935671	0.93088	D	0.664717977190895	0.77325	6.652977	0.672199563928878	0.80275	7.262494	0.999996612288541	0.74766	0.706548	0.73137	0	0.53679	0.11191	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	5.705000	0.68009	6.232000	0.55228	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.783	0.62579	422	0.81333	Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1434.33	39	chr17	4809713	.	T	C	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=828;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.126;SOR=0.622	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1448,0,1818	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	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	1/1:0,109:109:99:.:.:3690,351,0:.	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	1/1:0,109:109:99:.:.:3690,351,0:.	1	11	5	2
chr17	6080681	6080681	T	C	exonic	WSCD1	.	nonsynonymous SNV	WSCD1:NM_015253:exon2:c.T23C:p.L8P	.	414	1095	12	1	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.366438096606	0.0005	0.00199681	0.0015	0	0.0003	0	0.0008	0.0009	0.0080	0.0062	0.0013583	210	154602	rs199969111	0.0009	0.0009	0.0007	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	0.0001	0.0005	0.0005	0	0.0006	0.0061	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0070	0.0006	0.0006	0.0052	0.0045	9.619e-05	0	0.0007	0.0003	0	0.0003	0.0068	0.0007	0.0024	0.0070	0.063	0.36709	T	0.094	0.43344	T	0.999	0.77913	D	0.997	0.86255	D	0.000303	0.45977	D	0.088957	1	0.81001	D	1.825	0.47900	L	-1.69	0.82985	D	-2.76	0.58569	D	0.892	0.89131	0.216	0.86182	D	0.599	0.85705	D	10	0.011995554	0.00260	T	0.366438	0.92640	D	0.778	0.92583	.	.	0.814702939726	0.81296	0.8239234156417965	0.82349	0.514778440563	0.49403	0.829608440399	0.86502	D	0.119549	0.47045	T	0.0413676	0.57224	T	0.289674	0.87653	D	0.0839563011118792	0.10485	T	0.673733	0.28234	T	0.72579545	0.79486	0.6816505	0.81291	0.72579545	0.79487	0.6816505	0.81292	-7.07	0.54544	T	.	.	0.105	0.42346	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.784140	0.54430	23.5	0.99578205427655575	0.72861	0.95486	0.64913	D	AEFDBI	0.843437	0.76047	D	0.545063664310904	0.69781	5.406135	0.545255372443967	0.71067	5.598863	0.999999596397004	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	5.076000	0.64242	3.459000	0.38500	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.798	0.56952	934	0.15400	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006048	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	1944.33	34	chr17	6080681	.	T	C	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.406;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.13;SOR=0.731	GT:AD:DP:GQ:PL	0/1:82,86:168:99:1958,0,2007	18	0	1	0
chr17	7404063	7404063	A	T	exonic	TMEM256	.	nonsynonymous SNV	TMEM256:NM_152766:exon1:c.T22A:p.F8I	.	434	1087	1	0	0	1	0.00045977	.	.	.	3913834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0316026905316	.	.	2.048e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs762063272	1.729e-05	1.71e-05	8.233e-06	2.649e-05	8.361e-05	1.187e-05	1.003e-05	3.867e-05	2.727e-05	0	0	0	0	0	0	1.268e-05	6.702e-05	8.361e-05	1.972e-05	1.97e-05	2.571e-05	1.345e-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	0.23	0.18308	T	0.261	0.22962	T	0.981	0.59675	D	0.966	0.71341	D	0.001335	0.39379	N	0.211529	0.603517	0.81001	D	1.635	0.41844	L	.	.	.	-3.52	0.68412	D	0.709	0.71232	-0.5690	0.66054	T	0.220	0.58306	T	9	0.5998661	0.66851	D	0.031603	0.53648	D	0.216	0.50959	0.536	0.64585	0.0551355673512	0.04727	0.6322735677690371	0.63161	0.623859276739	0.56610	0.751865029335	0.74721	T	0.107864	0.42043	T	-0.0931415	0.37558	T	-0.185664	0.55995	T	0.98097550868988	0.73651	D	.	.	.	0.29042196	0.52032	0.3615811	0.61579	0.29042196	0.52032	0.3615811	0.61578	-8.456	0.64137	D	.	.	0.455	0.62465	A	.	.	3.792617	0.54594	23.5	0.96050570207575747	0.28561	0.42641	0.26923	N	ALL	0.330067	0.43022	N	0.306646320521093	0.56489	3.813681	0.271067947057932	0.53856	3.552716	0.999999999999087	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.97	4.97	0.65419	2.062000	0.41039	11.120000	0.86527	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.551000	0.30197	1.0:0.0:0.0:0.0	10.963	0.46608	197	0.92378	.	.	.	.	.	.	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	0.001015	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	990.33	46	chr17	7404063	.	A	T	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=784;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.395;SOR=0.436	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1004,0,834	18	0	1	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001039131:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001141:exon10:c.G1382A:p.R461Q	.	427	1054	40	1	0	42	0.0195349	.	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.005051	0.005435	0.008772	0.000000	0.017241	0.009146	0.022727	0.02632	2022.33	42	chr17	8047001	.	G	A	2022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=766;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-3.05;SOR=0.815	GT:AD:DP:GQ:PL	0/1:60,79:139:99:2036,0,1398	18	0	1	0
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	0/1:127,123:250:99:3187,0,3496	17	0	2	0
chr17	11880154	11880154	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon54:c.C10555A:p.P3519T	.	427	1089	6	0	0	6	0.00274725	.	.	.	1661054	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.313	.	0.0086	0.00339457	0.0063	0.0014	0.0025	0	0.0076	0.0094	0.0110	0.0018	0.0065976	1020	154602	rs148325223	0.0094	0.0094	0.0096	0.0093	0.0110	0.0093	0.0092	0.0108	0.0107	0.0011	0.0030	0.0088	0	0.0089	0.0019	0.0110	0.0082	0.0023	0.0062	0.0062	0.0065	0.0060	0.0097	0.0059	0.0058	0.0091	0.0089	0.0018	0.0340	0.0033	0.0069	0	0.0083	0.0136	0.0097	0.0047	0.0010	0.115	0.30375	T	0.077	0.42436	T	0.991	0.64070	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	1.32	0.35219	T	-7.51	0.95074	D	0.967	0.97750	-0.3778	0.72721	T	0.235	0.60136	T	10	0.0103057325	0.00230	T	.	.	.	0.313	0.63482	.	.	0.778069038823	0.77602	0.42470167739186965	0.42387	0.390937620753	0.40295	0.598156988621	0.52645	T	0.330491	0.70218	T	-0.364743	0.03869	T	-0.286317	0.46154	T	0.0649635257095597	0.07925	T	0.978202	0.92336	D	0.49797702	0.66976	0.47374466	0.69497	0.44088176	0.63460	0.47374466	0.69498	-10.774	0.78404	D	.	.	0.221	0.45124	B	.;.;.	.;.;.	4.445739	0.69058	25.3	0.99298890932204065	0.58541	0.98527	0.83734	D	AEFDBCI	0.891518	0.82754	D	0.824469320452021	0.87611	9.278214	0.713179577740243	0.83380	8.006348	0.999658104778558	0.41424	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	7.905000	0.86479	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	17.360	0.87236	640	0.64132	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	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	0.02632	3963.33	36	chr17	11880154	.	C	A	3963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.572;DP=976;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.21;SOR=0.702	GT:AD:DP:GQ:PL	0/1:178,172:350:99:3977,0,4437	18	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;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	.	.	.	.	.	.	.	.	0.02632	1215.33	34	chr17	11937502	.	G	T	1215.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.667;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.28;SOR=0.698	GT:AD:DP:GQ:PL	0/1:74,52:126:99:1229,0,1968	18	0	1	0
chr17	15304132	15304132	T	C	exonic	TEKT3	.	nonsynonymous SNV	TEKT3:NM_031898:exon9:c.A1277G:p.E426G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0375452546342	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs779949263	8.211e-06	8.211e-06	5.446e-06	1.101e-05	0.0001	4.38e-06	3.46e-06	8.027e-05	6.259e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.022	0.57587	D	0.958	0.54977	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	3.47	0.92451	M	4.1	0.02944	T	-4.01	0.74193	D	0.648	0.65930	-1.1541	0.00908	T	0.038	0.16376	T	10	0.6985873	0.72300	D	0.037545	0.57683	D	0.435	0.74022	0.559	0.67821	0.493628743246	0.48995	0.5289222020005292	0.52816	0.644633597594	0.57953	0.613064885139	0.54749	T	0.218477	0.58121	T	0.0368323	0.56629	T	-0.00334149	0.70120	D	0.855221033096313	0.50621	D	0.657134	0.26688	T	0.6547127	0.75615	0.5029722	0.71269	0.6547127	0.75617	0.5029722	0.71269	-8.291	0.63035	D	.	.	0.229	0.46121	B	.;.	.;.	4.461120	0.69433	25.4	0.97914741629834967	0.36836	0.97872	0.77764	D	AEFDGBHI	0.942687	0.94758	D	0.680908532554214	0.78383	6.860233	0.60812971202826	0.75529	6.326733	0.999997990640844	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	5.866000	0.69342	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.477000	0.28498	0.0:0.0:0.0:1.0	15.223	0.73024	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1114.33	39	chr17	15304132	.	T	C	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.961;SOR=0.582	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1128,0,897	18	0	1	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.02632	1316.33	45	chr17	17158688	.	C	T	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.54;DP=725;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=1.73;QD=16.88;ReadPosRankSum=1.03;SOR=0.394	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1330,0,890	18	0	1	0
chr17	18245226	18245226	C	T	exonic	FLII	.	nonsynonymous SNV	FLII:NM_001256265:exon29:c.G3557A:p.R1186Q,FLII:NM_001256264:exon30:c.G3689A:p.R1230Q,FLII:NM_002018:exon30:c.G3722A:p.R1241Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0130759827302	7.7e-05	0.000199681	5.787e-05	0.0002	0	0	0	3.01e-05	0	0.0002	5.17e-05	8	154602	rs374452292	2.532e-05	2.531e-05	2.178e-05	2.889e-05	0.0002	1.868e-05	1.631e-05	8.887e-05	7.055e-05	2.987e-05	0	0	0	0	0	1.979e-05	1.656e-05	0.0002	7.875e-05	7.874e-05	6.421e-05	9.394e-05	0.0004	4.491e-05	3.508e-05	7.287e-05	4.287e-05	0.0001	0	0.0002	0	0	0	0	1.47e-05	0	0.0004	0.101	0.30375	T	0.055	0.47097	T	0.092	0.25296	B	0.021	0.19346	B	0.000359	0.45440	D	0.143577	0.942434	0.37989	D	0.52	0.13579	N	2.02	0.55266	T	-1.12	0.28906	N	0.258	0.39457	-1.0439	0.16148	T	0.060	0.24945	T	10	0.10827801	0.20150	T	0.013076	0.32199	T	0.115	0.32236	.	.	0.534093007224	0.53058	0.2518044668443479	0.25094	0.387153817608	0.40000	0.526137948036	0.42490	T	0.125215	0.45076	T	-0.537642	0.00346	T	-0.750383	0.03471	T	0.0658913229082014	0.08062	T	.	.	.	0.13003898	0.30354	0.071229376	0.15228	0.13003898	0.30354	0.071229376	0.15227	-4.991	0.36916	T	.	.	0.126	0.34227	B	.;.;.;.	.;.;.;.	4.009907	0.59151	24.1	0.99831826047233829	0.91370	0.75370	0.36899	D	AEFDBCI	0.328536	0.42917	N	-0.22816567191433	0.31982	1.79889	-0.0280565273039576	0.38453	2.265708	0.938572512861198	0.27349	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	3.53	0.39533	3.186000	0.50643	4.793000	0.44914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.6562:0.0:0.3438	7.712	0.27847	192	0.92531	.;Gelsolin-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	1264.33	33	chr17	18245226	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=955;ExcessHet=0;FS=4.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.18;SOR=0.322	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1278,0,966	18	0	1	0
chr17	19781088	19781088	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon24:c.G2656A:p.V886M,ULK2:NM_014683:exon24:c.G2656A:p.V886M	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	.	0.0004	0.00479233	0.0025	0.0001	0.0004	0.0001	0	0.0006	0.0023	0.0153	0.0021474	332	154602	rs144113406	0.0013	0.0014	0.0009	0.0018	0.0156	0.0013	0.0013	0.0149	0.0146	0.0001	0.0004	0.0020	7.559e-05	0	0.0080	0.0003	0.0020	0.0156	0.0009	0.0009	0.0007	0.0011	0.0133	0.0007	0.0007	0.0107	0.0097	9.63e-05	0	0.0010	0.0037	0	0	0.0034	0.0005	0.0009	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000001	0.62929	D	0.056890	0.997719	0.44125	D	2.84	0.82582	M	0.12	0.61089	T	-2.43	0.53258	N	0.816	0.81162	-0.1587	0.78703	T	0.389	0.74349	T	10	0.013559639	0.00287	T	.	.	.	0.347	0.66863	.	.	0.706734743634	0.70418	0.5337172624296187	0.53296	0.236486782114	0.26189	0.718232274055	0.69789	T	0.545477	0.84513	D	-0.182455	0.23372	T	-0.0231847	0.68819	D	0.0731839727523938	0.09091	T	0.978052	0.92224	D	0.4584746	0.64576	0.49385887	0.70726	0.47474658	0.65581	0.4857415	0.70235	-10.638	0.77636	D	0.6258194583218957	0.69467	0.679	0.72087	P	.;.	.;.	4.457085	0.69330	25.4	0.99887131665444384	0.96204	0.95362	0.64424	D	AEFDBIJ	0.458072	0.50925	N	0.705483667367468	0.79992	7.19652	0.651905145771825	0.78754	6.940084	0.969231725537818	0.29113	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	4.59	0.56297	5.748000	0.68333	5.896000	0.50824	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.261	0.59537	574	0.70151	Serine/threonine-protein kinase, C-terminal;Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.004076	0.005848	0.000000	0.008621	0.012270	0.018939	0.02632	928.33	33	chr17	19781088	.	C	T	928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.565;DP=698;ExcessHet=0;FS=3.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.03;SOR=1.088	GT:AD:DP:GQ:PL	0/1:38,36:74:99:942,0,972	18	0	1	0
chr17	28381531	28381531	C	T	exonic	SARM1	.	nonsynonymous SNV	SARM1:NM_015077:exon2:c.C799T:p.R267W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs11658194	9.552e-05	9.44e-05	9.319e-05	9.79e-05	0.0001	8.24e-05	7.719e-05	0.0001	9.926e-05	0	0	0	0	0	0	0.0001	1.696e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.89131	.	.	.	.	.	.	.	0.8873259	0.88064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511919	0.82761	D	.	.	.	.	.	.	.	.	.	0.956004	0.83260	D	.	.	.	.	.	.	.	.	-9.525	0.71014	D	.	.	0.432	0.61295	A	.	.	3.928671	0.57408	23.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.941000	0.63241	1.124000	0.24269	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.956000	0.50813	.	.	.	127	0.94899	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1862.33	33	chr17	28381531	.	C	T	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.753;DP=780;ExcessHet=0;FS=5.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.564;SOR=1.132	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1876,0,2028	18	0	1	0
chr17	28634717	28634717	G	A	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon15:c.C2441T:p.T814I,KIAA0100:NM_001363827:exon15:c.C1865T:p.T622I,KIAA0100:NM_001363828:exon15:c.C845T:p.T282I,KIAA0100:NM_001321560:exon16:c.C2870T:p.T957I,KIAA0100:NM_014680:exon16:c.C2870T:p.T957I,KIAA0100:NM_001363829:exon17:c.C845T:p.T282I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.00769537550216	0.0002	0.000199681	0.0014	0	8.637e-05	0	0.0062	0.0019	0.0011	0.0001	0.0011643	180	154602	rs118181996	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0005	0.0004	0.0004	0	0.0002	7.652e-05	2.519e-05	0.0049	0.0003	0.0004	0.0006	0.0003	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	4.813e-05	0	0.0003	0	0	0.0034	0	0.0005	0	0	0.057	0.37966	T	0.011	0.64786	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	1.83	0.25018	T	-3.02	0.62630	D	0.771	0.80083	-1.0944	0.04839	T	0.139	0.45697	T	10	0.0136065185	0.00288	T	0.007695	0.20404	T	0.320	0.64215	.	.	0.469333501611	0.46562	0.7224893496885116	0.72192	0.285678085347	0.30979	0.71693444252	0.69600	T	0.04218	0.32609	T	-0.0992911	0.36543	T	0.0440655	0.73193	D	0.097499478965396	0.12080	T	0.936306	0.76101	D	0.24607535	0.47573	0.23472165	0.48697	0.24607535	0.47573	0.23472165	0.48696	-4.301	0.28191	T	.	.	0.373	0.64408	A	.;.;.	.;.;.	4.467223	0.69576	25.4	0.9981465140443927	0.89797	0.94776	0.62290	D	AEFDBHCI	0.892642	0.82978	D	0.712917755862227	0.80479	7.30332	0.745427237338526	0.85817	8.694611	1.0	0.98316	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.460000	0.79850	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.265	0.98461	227	0.91186	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	36	chr17	28634717	.	G	A	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.737;DP=784;ExcessHet=0;FS=10.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.824;SOR=1.448	GT:AD:DP:GQ:PL	0/1:61,81:142:99:2127,0,1589	18	0	1	0
chr17	29252194	29252194	A	G	exonic	CRYBA1	.	nonsynonymous SNV	CRYBA1:NM_005208:exon4:c.A346G:p.I116V	Cataract 10, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2113207	Cataract_10_multiple_types	MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.161	0.0131024853524	7.7e-05	0.000199681	0.0008	0	8.696e-05	0	0.0055	0.0008	0.0011	0.0003	0.0006468	100	154602	rs1129656	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0	6.708e-05	0	2.519e-05	0.0038	0.0003	0.0001	0.0004	0.0003	0.0003	0.0003	0.0001	0.0004	0.0004	0.0002	0.0002	9.052e-05	7.015e-05	0	0	6.535e-05	0	0	0.0025	0	0.0002	0	0.0004	0.568	0.06223	T	0.646	0.06836	T	0.005	0.12996	B	0.011	0.15521	B	0.000000	0.84330	D	0.044588	0.999571	0.47641	D	0.805	0.20218	L	-0.97	0.75670	T	-0.38	0.13418	N	0.279	0.31590	-0.8511	0.51891	T	0.232	0.59769	T	10	0.010830909	0.00239	T	0.013102	0.32235	T	0.161	0.41658	.	.	0.802341840766	0.80049	0.22386760990173735	0.22301	0.254691614069	0.28041	0.390503585339	0.23741	T	0.208637	0.56863	T	-0.342065	0.05246	T	-0.381957	0.35493	T	0.00936223673986832	0.00120	T	0.667933	0.27701	T	0.052600224	0.09834	0.082288586	0.18768	0.052600224	0.09834	0.082288586	0.18767	-2.579	0.06345	T	.	.	0.067	0.02399	B	.	.	1.729099	0.22006	15.44	0.84064658815101523	0.15076	0.86221	0.45460	D	AEFDBHCIJ	0.545045	0.55972	D	-0.36141044972746	0.26855	1.468893	-0.159849684574892	0.33032	1.885239	0.999999976598432	0.74766	0.525926	0.21836	0	0.600433	0.49495	0	0.615948	0.41167	0	0.691587	0.68394	0	.	.	5.78	4.71	0.59010	3.517000	0.53201	4.185000	0.42364	-0.559000	0.04861	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.848:0.0:0.152:0.0	9.574	0.38612	316	0.87161	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	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	919.33	33	chr17	29252194	.	A	G	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=733;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.205;SOR=0.892	GT:AD:DP:GQ:PL	0/1:52,42:94:99:933,0,1200	18	0	1	0
chr17	35177511	35177511	G	A	exonic	UNC45B	.	nonsynonymous SNV	UNC45B:NM_001308281:exon14:c.G1919A:p.R640Q,UNC45B:NM_173167:exon16:c.G2162A:p.R721Q,UNC45B:NM_001033576:exon17:c.G2156A:p.R719Q,UNC45B:NM_001267052:exon17:c.G2156A:p.R719Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	2099474	UNC45B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.516	.	.	0.0129792	0.0110	0	0.0017	0.0012	0	9.402e-05	0.0038	0.0341	0.0033829	523	154602	rs202199748	0.0020	0.0020	0.0011	0.0029	0.0322	0.0019	0.0019	0.0311	0.0307	9.352e-05	5.325e-05	0	8.191e-05	0	0.0019	5.531e-05	0.0027	0.0322	0.0013	0.0013	0.0009	0.0017	0.0393	0.0011	0.0011	0.0347	0.0329	4.816e-05	0	0	0	0.0004	0	0	4.41e-05	0	0.0393	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.974	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	3.69	0.47477	T	-3.5	0.68178	D	0.927	0.93135	-0.0441	0.81331	T	0.405	0.75529	T	10	0.010255188	0.00229	T	.	.	.	0.516	0.79340	.	.	0.882103484673	0.88095	0.7315448376757215	0.73099	0.537137804364	0.51028	0.658396363258	0.61179	T	0.664888	0.89987	D	-0.136014	0.30528	T	0.0555331	0.73948	D	0.119878280349495	0.14418	T	0.941806	0.78262	D	0.8181357	0.85095	0.70836353	0.82802	0.8188416	0.85143	0.7234128	0.83666	-7.19	0.56337	T	0.694965345589585	0.77318	0.478	0.63547	A	.;.;.	.;.;.	4.914243	0.80885	27.4	0.99944294302071124	0.99868	0.99612	0.97981	D	AEFDBI	0.895738	0.83608	D	0.983720826609268	0.95223	13.41908	0.907224901703452	0.95881	14.06434	0.99999997169958	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	9.614000	0.97785	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0:0.0:1.0:0.0	18.128	0.89522	907	0.22727	.;.;.	.	.	.	.	.	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	0.004559	0.000000	0.001374	0.008824	0.000000	0.000000	0.000000	0.018939	0.02632	1258.33	36	chr17	35177511	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.129;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.957;SOR=0.644	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1272,0,1380	18	0	1	0
chr17	35745510	35745510	G	A	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon6:c.C1987T:p.P663S	.	.	.	.	.	.	.	.	.	.	.	2430493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00811915112752	0.0005	0.000199681	0.0003	9.839e-05	0	0	0	0.0005	0	6.911e-05	0.0002781	43	154602	rs141500997	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	0	0.0002	0.0034	5.047e-05	0.0001	0.0005	0.0004	0.0004	4.645e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0002	0.0040	0	0	0	0.0005	0	0	.	.	.	0.884	0.03241	T	0.999	0.77913	D	0.96	0.70309	D	0.008633	0.30747	N	0.229124	1	0.08975	N	1.1	0.28011	L	2.13	0.19588	T	.	.	.	0.391	0.46928	-1.0828	0.06814	T	0.085	0.33099	T	10	0.02093631	0.00491	T	0.008119	0.21521	T	.	.	.	.	0.590905048371	0.58767	0.1922301592650432	0.19141	.	.	0.333755046129	0.15500	T	0.012966	0.11300	T	-0.40579	0.02121	T	-0.475728	0.24901	T	0.0512603372335434	0.05720	T	0.816118	0.47137	T	0.079513356	0.18169	0.17373285	0.39720	0.079513356	0.18169	0.17373285	0.39719	-3.848	0.21523	T	.	.	0.106	0.26325	B	.;.	.;.	3.224815	0.43955	21.8	0.9964705413581022	0.77068	0.42060	0.26794	N	AEFDBCI	0.108565	0.21592	N	0.103284234545085	0.46616	2.899217	-0.00195592919135813	0.39628	2.352483	0.017839721297782	0.12994	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.58	4.58	0.56077	1.390000	0.34072	9.606000	0.81076	0.618000	0.50648	0.021000	0.19753	1.000000	0.68203	0.082000	0.17360	0.0:0.0:1.0:0.0	14.243	0.65516	461	0.78683	.;.	.	.	.	.	.	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	1601.33	33	chr17	35745510	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.68;DP=802;ExcessHet=0;FS=3.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.24;SOR=0.96	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1615,0,2274	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	0/1:48,55:103:99:468,0,694	1	0	18	0
chr17	37744812	37744812	C	A	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon1:c.G73T:p.V25L,HNF1B:NM_001165923:exon1:c.G73T:p.V25L,HNF1B:NM_001304286:exon1:c.G73T:p.V25L	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	45513	not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma|not_provided|Renal_cysts_and_diabetes_syndrome	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	.	0.0002	0.00798722	0.0054	0	0	0.0003	0	0.0002	0.0023	0.0378	0.0045472	703	154602	rs139107479	0.0022	0.0022	0.0013	0.0031	0.0335	0.0021	0.0021	0.0325	0.0320	0.0001	0.0001	0.0033	2.519e-05	0	0.0016	4.227e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0018	0.0352	0.0011	0.0011	0.0309	0.0292	0.0001	0	0	0.0029	0.0004	0	0	4.411e-05	0.0005	0.0352	.	.	.	0.328	0.21343	T	0.505	0.37231	P	0.224	0.37970	B	0.000005	0.62929	D	0.061959	0.999733	0.48635	D	1.12	0.28775	L	.	.	.	.	.	.	0.143	0.23758	0.822	0.94679	D	0.863	0.95424	D	10	0.008750111	0.00198	T	.	.	.	.	.	0.631	0.76699	0.363734036182	0.35979	0.4184153378697141	0.41757	.	.	0.540789604187	0.44557	T	0.725476	0.92274	D	-0.382514	0.03004	T	-0.295772	0.45168	T	0.0286651391693961	0.01786	T	.	.	.	0.28545466	0.51566	0.3965339	0.64292	0.33086795	0.55542	0.47141975	0.69353	-6.814	0.52678	T	.	.	0.144	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.494622	0.48858	22.7	0.99204724568989155	0.55381	0.85212	0.44325	D	AEFDGBCI	0.634126	0.61412	D	-0.155822337058122	0.34987	2.003985	-0.0554235161108831	0.37256	2.178949	1.0	0.98316	0.59774	0.34471	0	0.552344	0.17405	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	0.861000	0.27540	5.992000	0.52347	0.599000	0.40250	0.025000	0.20085	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.614	0.87963	128	0.94857	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.015267	0.05263	2118.83	39	chr17	37744812	.	C	A	2118.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.439;DP=753;ExcessHet=0.119;FS=2.794;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.353;SOR=0.556	GT:AD:DP:GQ:PL	0/1:41,38:79:99:942,0,1012	17	0	2	0
chr17	38331156	38331156	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G2413C:p.E805Q	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	877368	not_provided|Congenital_stationary_night_blindness_1E	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	0.0307315996147	0.0007	0.000998403	0.0016	0	0.0002	0	0.0042	0.0017	0.0030	0.0030	0.0012484	193	154602	rs199619898	0.0015	0.0015	0.0014	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	8.962e-05	0.0003	0	0	0.0040	0.0007	0.0014	0.0011	0.0027	0.0011	0.0011	0.0011	0.0011	0.0025	0.0010	0.0009	0.0014	0.0011	0.0001	0.0099	0.0002	0	0	0.0039	0	0.0015	0	0.0025	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	0.212168	0.16339	N	0.548534	0.938602	0.37231	D	.	.	.	.	.	.	.	.	.	0.069	0.06190	-0.8271	0.53486	T	0.153	0.48291	T	10	0.007912993	0.00180	T	0.030732	0.52975	D	.	.	.	.	0.152612264143	0.14878	0.27283546673740205	0.27196	.	.	0.365570604801	0.20194	T	.	.	.	-0.534294	0.00362	T	-0.544244	0.17882	T	0.0494947582087675	0.05410	T	0.518148	0.17380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30817	B	.;.	.;.	1.976133	0.25106	16.64	0.99369514030680184	0.61368	0.98499	0.83426	D	AEFDBI	.	.	.	0.250891826343326	0.53683	3.536133	0.201362654973295	0.49923	3.189911	0.999999999997221	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	1.472000	0.34984	4.501000	0.43609	0.599000	0.40250	0.080000	0.22340	0.737000	0.26456	0.022000	0.11911	0.0:1.0:0.0:0.0	17.890	0.88787	137	0.94565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2106.33	42	chr17	38331156	.	C	G	2106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=855;ExcessHet=0;FS=8.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.24;SOR=0.296	GT:AD:DP:GQ:PL	0/1:67,82:149:99:2120,0,1727	18	0	1	0
chr17	40554804	40554804	G	A	exonic	CCR7	.	nonsynonymous SNV	CCR7:NM_001301714:exon2:c.C886T:p.R296W,CCR7:NM_001301716:exon3:c.C1057T:p.R353W,CCR7:NM_001301717:exon3:c.C1057T:p.R353W,CCR7:NM_001301718:exon3:c.C1057T:p.R353W,CCR7:NM_001838:exon3:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0718221285062	.	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs755563290	8.209e-06	8.209e-06	6.806e-06	9.626e-06	2.519e-05	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	7.654e-05	2.519e-05	0	0	5.396e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.023	0.57587	D	0.999	0.77913	D	0.872	0.61918	P	0.075821	0.21201	N	0.484707	0.803252	0.34540	D	1.83	0.48079	L	0.13	0.60973	T	-2.28	0.50830	N	0.396	0.43706	-0.0874	0.80386	T	0.334	0.70125	T	10	0.33809364	0.50920	T	0.071822	0.71371	D	0.296	0.61616	0.49	0.57573	0.438144244647	0.43432	0.6541680390650095	0.65352	1.74582744126	0.90929	0.506283521652	0.39703	T	0.355842	0.72278	T	-0.168277	0.25494	T	-0.297967	0.44940	T	0.754240334033966	0.43523	D	0.89781	0.64256	D	0.10999901	0.26004	0.12608765	0.30372	0.10999901	0.26003	0.12608765	0.30371	-6.192	0.47858	T	.	.	0.174	0.42346	B	.;.	.;.	3.668350	0.52151	23.2	0.99897075844263805	0.96971	0.67833	0.33577	D	AEFBHCI	0.725160	0.67424	D	0.442241333492722	0.63765	4.616548	0.386472856963695	0.60731	4.263955	0.999998543302453	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.73	3.63	0.40741	1.294000	0.32971	2.847000	0.35116	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.825000	0.38878	0.0:0.0:0.5991:0.4009	13.776	0.62543	247	0.90334	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2024.33	34	chr17	40554804	.	G	A	2024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.786;SOR=0.728	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2038,0,1937	18	0	1	0
chr17	40779858	40779858	T	C	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon4:c.A688G:p.M230V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0331205182417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	0	2.778e-06	2.391e-05	2.3e-07	9e-08	3.97e-06	1.49e-06	0	0	0	0	0	0	0	0	2.391e-05	6.568e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.273	0.22154	T	0.019	0.17989	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.98653	0.40447	D	1.09	0.27330	L	-2.15	0.86481	D	-2.6	0.55983	D	0.311	0.35088	-0.4977	0.68733	T	0.398	0.74980	T	10	0.18106025	0.33320	T	0.033121	0.54755	D	0.435	0.74022	0.465	0.53566	0.594425430586	0.59120	0.2175462781810105	0.21670	0.626842915102	0.56799	0.531531453133	0.43250	T	0.456988	0.79553	T	0.145261	0.68823	D	-0.0291192	0.68427	D	0.891886293888092	0.54290	D	0.779322	0.41328	T	0.56355244	0.70705	0.6288173	0.78352	0.56355244	0.70707	0.6288173	0.78353	-5.315	0.40091	T	.	.	0.137	0.29941	B	.	.	3.701147	0.52790	23.3	0.98483658019478804	0.42014	0.89600	0.50168	D	AEFDBI	0.267463	0.38416	N	-0.371081745732319	0.26504	1.44703	-0.167865433998178	0.32726	1.864788	0.999793216770072	0.43153	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.38	5.38	0.77279	1.110000	0.30761	4.947000	0.46254	0.609000	0.47794	0.877000	0.30928	1.000000	0.68203	0.980000	0.58198	0.1361:0.0:0.0:0.8639	11.307	0.48576	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1537.33	37	chr17	40779858	.	T	C	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=915;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.269;SOR=0.739	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1551,0,1789	18	0	1	0
chr17	40781218	40781218	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon2:c.C497T:p.A166V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.196208647561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.052e-06	0	2.756e-06	2.334e-05	2.3e-07	9e-08	3.88e-06	1.45e-06	0	0	0	0	0	0	0	0	2.334e-05	6.573e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.026	0.55759	D	0.985	0.61118	D	0.913	0.64886	D	0.000189	0.48115	D	0.091352	0.999956	0.52396	D	2.635	0.77114	M	-2.4	0.88455	D	-3.25	0.65283	D	0.545	0.57177	0.765	0.93983	D	0.811	0.93614	D	10	0.73202264	0.74363	D	0.196209	0.86466	D	0.626	0.85563	0.704	0.84054	0.706889111854	0.70433	0.31416322250799567	0.31329	0.523745419462	0.50081	0.459032773972	0.33177	T	0.458562	0.79649	T	0.185716	0.72569	D	0.0289911	0.72212	D	0.990779042243958	0.81006	D	0.889211	0.62120	D	0.42701626	0.62557	0.430403	0.66692	0.42701626	0.62557	0.430403	0.66692	-8.178	0.62276	D	.	.	0.300	0.52953	B	.	.	5.234798	0.87878	29.4	0.99901162030272417	0.97275	0.91525	0.53713	D	AEFDBI	0.531702	0.55187	D	0.688186661877352	0.78857	6.957037	0.646400946670509	0.78341	6.857181	0.999563141810396	0.40425	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	3.977000	0.56581	11.680000	0.94210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.087	0.86488	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1002.33	33	chr17	40781218	.	G	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.816;SOR=0.739	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1016,0,1389	18	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	174.11	471	chr17	41226817	.	A	G	174.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.94;DP=5719;ExcessHet=0;FS=31.807;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.029;MQ=56.81;MQRankSum=-9.456;QD=0.57;ReadPosRankSum=-4.133;SOR=4.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:275,28:303:99:.:.:187,0,11364:.	16	0	1	2
chr17	41515664	41515664	T	A	exonic	KRT15	.	nonsynonymous SNV	KRT15:NM_002275:exon6:c.A1055T:p.E352V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.290107786065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000131	0.49741	D	0.000000	0.999965	0.52935	D	3.675	0.94400	H	-3.23	0.93414	D	-6.31	0.90812	D	0.66	0.66959	1.066	0.98474	D	0.917	0.97264	D	10	0.9552196	0.94880	D	0.290108	0.90534	D	0.869	0.96059	0.801	0.92017	0.954731915831	0.95425	0.6477650726519842	0.64711	0.545570971901	0.51584	0.442070305347	0.30860	T	0.749987	0.95523	D	0.365327	0.87652	D	0.28699	0.87493	D	0.997475922107697	0.91644	D	0.956904	0.83719	D	0.8658309	0.88534	0.7651921	0.86129	0.8658309	0.88536	0.7651921	0.86130	-10.757	0.78308	D	.	.	0.555	0.68846	A	.;.;.;.	.;.;.;.	4.913353	0.80858	27.4	0.99358699645631177	0.60904	0.98933	0.88820	D	AEFDBI	0.823793	0.74383	D	0.735983877278266	0.81990	7.653333	0.602948930722178	0.75155	6.260589	0.999436863746163	0.39683	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	6.153000	0.71612	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.637000	0.32341	0.0:0.0:0.0:1.0	14.425	0.66780	423	0.81269	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1177.33	33	chr17	41515664	.	T	A	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.184;DP=728;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.943;SOR=0.387	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1191,0,864	18	0	1	0
chr17	41715552	41715552	A	G	exonic	GAST	.	nonsynonymous SNV	GAST:NM_000805:exon2:c.A116G:p.N39S	.	428	1093	1	0	0	1	0.000457247	.	.	.	704139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.061	.	0.0015	0.00539137	0.0031	0.0005	0.0011	0.0277	0	0.0012	0.0033	0.0019	0.0030271	468	154602	rs140947135	0.0031	0.0031	0.0032	0.0030	0.0432	0.0030	0.0030	0.0415	0.0409	0.0005	0.0011	7.652e-05	0.0432	0.0001	0.0007	0.0021	0.0029	0.0018	0.0022	0.0022	0.0022	0.0022	0.0285	0.0020	0.0020	0.0247	0.0233	0.0005	0	0.0008	0	0.0285	0.0002	0	0.0020	0.0009	0.0033	0.495	0.07870	T	0.164	0.31026	T	0.003	0.11197	B	0.008	0.13708	B	0.390767	0.13259	N	0.701070	1	0.08975	N	0.935	0.23595	L	1.96	0.22270	T	-0.46	0.14978	N	0.037	0.01135	-0.9897	0.32677	T	0.016	0.06377	T	10	0.0038016737	0.00071	T	.	.	.	0.061	0.17616	.	.	0.448498829774	0.44469	0.04608210902180954	0.04552	0.503965992592	0.48697	0.327405065298	0.14542	T	0.171662	0.51986	T	-0.719372	0.00028	T	-0.78718	0.02243	T	0.00281082454325926	0.00029	T	0.490951	0.15096	T	0.033849392	0.03686	0.04842821	0.07190	0.033849392	0.03686	0.04842821	0.07190	-1.753	0.02372	T	.	.	0.072	0.04080	B	.	.	-0.064136	0.03861	0.835	0.77206884708180912	0.11780	0.00559	0.02549	N	AEFGBI	0.022538	0.01140	N	-0.977932649754679	0.09076	0.4280838	-1.05206041556417	0.08664	0.4271119	7.16958224871916E-6	0.01202	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.56	-0.386	0.11846	-0.025000	0.12361	-0.108000	0.11862	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.224000	0.22571	0.3789:0.0:0.6211:0.0	8.311	0.31231	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	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	923.33	43	chr17	41715552	.	A	G	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=789;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.388;SOR=0.921	GT:AD:DP:GQ:PL	0/1:39,34:73:99:937,0,1029	18	0	1	0
chr17	44254581	44254581	C	T	exonic	SLC4A1	.	nonsynonymous SNV	SLC4A1:NM_000342:exon16:c.G1972A:p.E658K	Cryohydrocytosis, Autosomal dominant;Ovalocytosis, SA type, Autosomal dominant;Renal tubular acidosis, distal, AD, Autosomal dominant;Renal tubular acidosis, distal, AR, Autosomal recessive;Spherocytosis, type 4, Autosomal dominant	0	1518	3	1	0	5	0.0016442	.	.	.	32798	Cryohydrocytosis|Autosomal_dominant_distal_renal_tubular_acidosis|Renal_tubular_acidosis,_distal,_4,_with_hemolytic_anemia|BLOOD_GROUP--WALDNER_TYPE|BLOOD_GROUP--FROESE|BLOOD_GROUP--WRIGHT_ANTIGEN|BLOOD_GROUP--SWANN_SYSTEM|BLOOD_GROUP--DIEGO_SYSTEM|Southeast_Asian_ovalocytosis|Malaria,_susceptibility_to|Hereditary_spherocytosis_type_4|Hemolytic_anemia|not_provided|not_specified	MONDO:MONDO:0008494,MedGen:C1861453,OMIM:185020,Orphanet:398088|MONDO:MONDO:0008368,MedGen:CN280572,OMIM:179800,Orphanet:93608|MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610|MedGen:C1862191,OMIM:112010|MedGen:C1832168,OMIM:601551|MedGen:C1862190,OMIM:112050|MedGen:C1832169,OMIM:601550|MedGen:C1292286,OMIM:110500|MONDO:MONDO:0008165,MedGen:C1862322,OMIM:166900,Orphanet:98868|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0012981,MedGen:C2675212,OMIM:612653,Orphanet:822|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.425	0.039908357602	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs75731670	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0004	0.0003	0	0.0003	0	0	7.49e-05	0.0009	0.0004	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0	0	0	9.427e-05	0	0.0005	0.0009	0	0.105	0.29823	T	0.223	0.25670	T	0.001	0.07471	B	0.006	0.12133	B	0.000087	0.00436	N	4.068130	1.24641e-14	0.08975	A	-0.05	0.04954	N	-1.16	0.78082	T	-0.42	0.14193	N	0.296	0.71055	-0.8609	0.51198	T	0.250	0.61969	T	10	0.5111048	0.62101	D	0.039908	0.59076	D	0.425	0.73299	.	.	0.987699218438	0.98756	0.42795184809072734	0.42712	0.391724164423	0.40370	0.248115330935	0.03572	T	0.266335	0.63828	T	-0.219549	0.18055	T	-0.247166	0.50097	T	0.0237963757518711	0.01119	T	0.661834	0.27067	T	0.21896526	0.44417	0.105928235	0.25473	0.13615762	0.31573	0.15476955	0.36308	-3.87	0.21854	T	.	.	0.070	0.09191	B	.;.	.;.	-2.133549	0.00075	0.001	0.81888713537473612	0.13911	0.05163	0.10978	N	AEFDBCI	0.177335	0.30457	N	-1.86612435494924	0.00403	0.01731357	-1.99771522131584	0.00310	0.01367536	0.999999217860768	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.66	-11.3	0.00084	-6.298000	0.00088	-20.000000	0.00162	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0486:0.5827:0.1721:0.1966	13.778	0.62557	422	0.81333	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	0.002014	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2629.33	37	chr17	44254581	.	C	T	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.878;DP=894;ExcessHet=0;FS=0.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.65;SOR=0.657	GT:AD:DP:GQ:PL	0/1:146,117:263:99:2643,0,3472	18	0	1	0
chr17	44751116	44751116	T	A	exonic	DBF4B	.	nonsynonymous SNV	DBF4B:NM_145663:exon14:c.T1711A:p.S571T	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00325142131755	0.0029	0.00199681	0.0026	0.0006	0.0017	0	0.0012	0.0037	0.0011	0.0024	0.0027878	431	154602	rs117190451	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0051	0.0006	0.0021	0.0005	0	0.0009	0.0016	0.0053	0.0033	0.0025	0.0029	0.0029	0.0032	0.0025	0.0044	0.0026	0.0026	0.0040	0.0038	0.0007	0.0307	0.0030	0.0006	0	0.0010	0.0068	0.0044	0.0038	0.0023	0.0	0.91255	D	.	.	.	0.027	0.19556	B	0.007	0.12992	B	0.001658	0.00810	U	26.102800	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	-0.53	0.16393	N	0.078	0.05287	-1.1040	0.03640	T	0.039	0.16892	T	9	0.0058712065	0.00131	T	0.003251	0.07177	T	0.041	0.10877	.	.	0.388653054685	0.38476	0.07158533498302981	0.07095	0.182716278974	0.20537	0.281637132168	0.07722	T	0.004089	0.03502	T	-0.625669	0.00102	T	-0.669587	0.07635	T	0.00753311086931852	0.00087	T	0.242476	0.03503	T	0.089047	0.20793	0.066293694	0.13558	0.089047	0.20793	0.066293694	0.13557	-4.281	0.27910	T	.	.	0.099	0.16800	B	.	.	0.839488	0.12109	8.663	0.91796550002149169	0.21101	0.02853	0.07613	N	AEFDBI	0.023758	0.01370	N	-1.30393602074445	0.03630	0.1624895	-1.37445750908923	0.03526	0.1646641	2.59555045583535E-4	0.06190	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.02	-2.68	0.05686	0.010000	0.13140	0.229000	0.16167	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1216:0.1876:0.3244	0.435	0.00445	475	0.77788	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1810.33	37	chr17	44751116	.	T	A	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.511;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.49;SOR=0.677	GT:AD:DP:GQ:PL	0/1:124,82:206:99:1824,0,3226	18	0	1	0
chr17	44772292	44772292	G	A	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_002390:exon7:c.G569A:p.R190Q	.	427	1082	12	1	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00910905620197	0.0032	0.00239617	0.0045	0.0013	0.0039	0.0003	0.0016	0.0064	0.0038	0.0033	0.0032018	495	154602	rs116926739	0.0047	0.0047	0.0048	0.0046	0.0097	0.0046	0.0046	0.0076	0.0069	0.0015	0.0031	0.0006	0	0.0011	0.0097	0.0055	0.0042	0.0028	0.0033	0.0033	0.0036	0.0030	0.0047	0.0031	0.0030	0.0043	0.0041	0.0014	0.0301	0.0035	0.0006	0.0002	0.0014	0.0138	0.0047	0.0052	0.0026	0.066	0.36113	T	0.122	0.35710	T	0.091	0.25247	B	0.009	0.14300	B	0.030802	0.25256	N	0.274240	0.998964	0.81001	D	0.83	0.20963	L	4.29	0.02462	T	-1.88	0.43906	N	0.21	0.23380	-0.7687	0.56929	T	0.004	0.01365	T	10	0.00668329	0.00152	T	0.009109	0.23965	T	0.047	0.12962	.	.	0.238705975628	0.23479	0.8496241457792895	0.84924	0.583003539302	0.54033	0.49395018816	0.37987	T	0.130477	0.45940	T	-0.503	0.00550	T	-0.49269	0.23110	T	0.0175279911412485	0.00488	T	0.811219	0.46271	T	0.08754011	0.20388	0.07300469	0.15816	0.08754011	0.20388	0.07300469	0.15816	-7.586	0.58213	D	.	.	0.083	0.09143	B	.	.	5.128834	0.85820	28.7	0.97861285953251043	0.36465	0.74644	0.36520	D	AEFBI	0.257001	0.37581	N	-0.200655042787416	0.33107	1.874611	0.0104876722051516	0.40202	2.395428	0.0494714487045288	0.14806	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.365000	0.33786	9.871000	0.82128	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0965:0.0:0.9035:0.0	9.545	0.38440	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010132	0.000000	0.017663	0.002924	0.000000	0.008621	0.015528	0.003788	0.02632	441.36	34	chr17	44772292	.	G	A	441.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=701;ExcessHet=0;FS=10.319;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.994;SOR=1.376	GT:AD:DP:GQ:PL	0/1:33,21:54:99:455,0,792	18	0	1	0
chr17	50528757	50528757	C	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon17:c.C2515T:p.R839W,MYCBPAP:NM_032133:exon17:c.C2470T:p.R824W	.	420	1098	3	1	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0174389190974	7.7e-05	0.00159744	0.0006	0	0	0.0018	0	0.0001	0	0.0034	0.0005498	85	154602	rs141898450	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0003	0.0026	0.0024	2.987e-05	0	0	0.0030	0	0.0010	3.417e-05	0.0003	0.0028	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0001	0.0018	0.0014	2.41e-05	0	6.542e-05	0	0.0029	0	0	7.355e-05	0	0.0023	0.003	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	0.027220	0.25793	N	0.320160	1	0.08975	N	.	.	.	1.69	0.27032	T	-4.3	0.76496	D	0.434	0.47301	-1.0166	0.24819	T	0.105	0.38464	T	10	0.0046901405	0.00099	T	0.017439	0.39139	T	0.053	0.14996	.	.	0.27132560031	0.26736	.	.	0.659869438374	0.58832	0.389642298222	0.23620	T	.	.	.	-0.448419	0.01154	T	-0.418372	0.31261	T	0.145517487405955	0.16741	T	0.916508	0.70155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.45211	B	.;.	.;.	4.416941	0.68379	25.2	0.99851839329604841	0.93102	0.34323	0.25040	N	AEFDBI	0.323944	0.42599	N	0.138915652453854	0.48286	3.042935	0.0223329272051142	0.40753	2.43728	0.0544738812055955	0.14976	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.54	3.47	0.38831	0.907000	0.28154	1.099000	0.24051	-0.224000	0.07868	0.604000	0.27780	0.529000	0.25352	0.880000	0.42090	0.4241:0.4384:0.1375:0.0	8.949	0.34939	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1604.33	36	chr17	50528757	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=779;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.124;SOR=0.917	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1618,0,1597	18	0	1	0
chr17	53823685	53823685	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G652A:p.V218M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.00868367391528	0.0002	0.000399361	0.0011	0	0.0003	0	0	0.0003	0.0022	0.0068	0.0009314	144	154602	rs372615987	0.0006	0.0006	0.0004	0.0007	0.0060	0.0005	0.0005	0.0056	0.0054	8.961e-05	6.708e-05	0	2.519e-05	0	0.0029	0.0002	0.0009	0.0060	0.0004	0.0004	0.0004	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	2.404e-05	0	0.0003	0	0	0	0.0068	0.0004	0.0005	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.972	0.72692	D	0.010146	0.30045	N	0.153038	0.871943	0.35580	D	4.08	0.97210	H	1.75	0.26152	T	-2.89	0.60665	D	0.525	0.55453	-0.0588	0.81019	T	0.279	0.65129	T	10	0.026045382	0.00781	T	0.008684	0.22927	T	0.311	0.63269	.	.	0.552656131934	0.54924	0.4509889434292239	0.45016	0.507607720466	0.48939	0.662219524384	0.61727	T	0.254636	0.62532	T	-0.219968	0.17996	T	-0.0862717	0.64441	T	0.206364495462122	0.20762	T	0.941606	0.78180	D	0.48744735	0.66350	0.54919016	0.73936	0.48744735	0.66351	0.54919016	0.73936	-10.377	0.76137	D	.	.	0.394	0.59222	A	.	.	4.747517	0.76619	26.5	0.99899468729775065	0.97199	0.93985	0.59767	D	AEFDBCI	0.604161	0.59536	D	1.02732481445749	0.96524	14.80165	0.920934470804943	0.96422	14.677	0.0311067499757519	0.13983	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	5.027000	0.63888	5.897000	0.50837	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0827:0.0:0.9173:0.0	12.094	0.53042	894	0.26265	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.007576	0.05263	6860.83	228	chr17	53823685	.	G	A	6860.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=3290;ExcessHet=0.119;FS=1.104;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.12;SOR=0.682	GT:AD:DP:GQ:PL	0/1:102,125:227:99:3064,0,2413	17	0	2	0
chr17	57106389	57106389	-	GCTTGGATAGAAATGAGGAGG	exonic	AKAP1	.	nonframeshift insertion	AKAP1:NM_001370424:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370426:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_003488:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001242902:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001242903:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370423:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370425:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370427:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0014	0.0014	0.0010	0.0002	0.0001	0.0007	0	0.0005	3.881e-05	0.0003	0.0017	0.0003	0.0007	0.0004	0.0003	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0.0006	0	0	7.386e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1779.29	33	chr17	57106389	.	A	AGCTTGGATAGAAATGAGGAGG	1779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.435;DP=1218;ExcessHet=0;FS=6.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=-2.467;QD=10.65;ReadPosRankSum=-3.267;SOR=0.364	GT:AD:DP:GQ:PL	0/1:83,84:167:99:1793,0,2782	18	0	1	0
chr17	58362593	58362593	A	G	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon5:c.T257C:p.I86T,RNF43:NM_001305544:exon6:c.T638C:p.I213T,RNF43:NM_017763:exon6:c.T638C:p.I213T	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3909725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.00837648040079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291066204	6.85e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.01	0.65728	D	0.061	0.45171	B	0.02	0.40739	B	0.567514	0.11272	N	0.817110	0.998936	0.45716	D	1.995	0.54099	M	3.11	0.11622	T	-1.62	0.38924	N	0.509	0.57690	-1.0001	0.29888	T	0.024	0.10103	T	10	0.3187763	0.49272	T	0.008376	0.22181	T	0.182	0.45420	0.488	0.57257	0.379366414296	0.37549	0.7014635827885535	0.70087	1.02746352211	0.75325	0.739188194275	0.72852	T	0.064472	0.32442	T	-0.0961874	0.37056	T	-0.375943	0.36197	T	0.80745941400528	0.46868	D	0.858914	0.54988	D	0.1587679	0.35701	0.2064533	0.44859	0.1587679	0.35701	0.2064533	0.44858	-5.615	0.47084	T	.	.	0.546	0.66635	A	.;.;.;.;.;.	.;.;.;.;.;.	3.809388	0.54942	23.5	0.9975640756230244	0.84694	0.98945	0.88990	D	AEFDBI	0.867649	0.78749	D	0.141071917983129	0.48390	3.051848	0.305030358730018	0.55835	3.746289	0.999999999999818	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.392000	0.79116	8.145000	0.76695	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	14.643	0.68345	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	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	1026.33	34	chr17	58362593	.	A	G	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=727;ExcessHet=0;FS=1.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.031;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1040,0,1252	18	0	1	0
chr17	60078823	60078823	C	A	exonic	HEATR6	.	nonsynonymous SNV	HEATR6:NM_022070:exon1:c.G92T:p.R31L	.	380	1140	2	0	0	2	0.000876424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	7.7e-05	0.00319489	0.0035	0	0.0002	0	0	0	0	0.0213	0.0017205	266	154602	rs377099611	0.0009	0.0010	0.0005	0.0014	0.0154	0.0009	0.0009	0.0147	0.0144	3.001e-05	2.273e-05	0	5.089e-05	0	0.0002	4.51e-06	0.0009	0.0154	0.0005	0.0006	0.0002	0.0009	0.0164	0.0005	0.0004	0.0135	0.0124	0	0	6.577e-05	0	0	0	0	2.943e-05	0.0005	0.0164	0.373	0.11442	T	0.224	0.25827	T	0.116	0.26475	B	0.07	0.27859	B	0.098430	0.19981	N	0.575055	0.676384	0.30318	N	2.14	0.59869	M	0.97	0.42502	T	-1.02	0.26843	N	0.551	0.57690	-0.9785	0.35345	T	0.095	0.35897	T	10	0.0054709613	0.00121	T	.	.	.	0.093	0.26882	.	.	0.541466613703	0.53798	0.26561306868967205	0.26474	0.177121502232	0.19927	0.628523945808	0.56935	T	0.01699	0.15948	T	-0.42141	0.01675	T	-0.366427	0.37306	T	0.110907951942565	0.13517	T	0.882412	0.60266	D	0.1253103	0.29380	0.1360711	0.32561	0.1253103	0.29379	0.1360711	0.32560	-4.101	0.25305	T	.	.	0.119	0.47492	B	.;.;.	.;.;.	2.182193	0.27816	17.59	0.99119155718284957	0.52932	0.31328	0.24309	N	ALL	0.556292	0.56638	D	-0.248268491834074	0.31173	1.745294	-0.185555983961268	0.32066	1.820713	0.999999999999536	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	3.04	0.34171	2.265000	0.42968	3.198000	0.36737	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.7359:0.1712:0.0928	7.308	0.25633	160	0.93798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002030	0.000000	0.000000	0.008772	0.000000	0.000000	0.003086	0.003817	0.02632	971.33	36	chr17	60078823	.	C	A	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.265;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.517;SOR=0.735	GT:AD:DP:GQ:PL	0/1:56,47:103:99:985,0,1237	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	0/1:34,9:43:1:1,0,448	14	0	5	0
chr17	64054814	64054814	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon14:c.G1687A:p.V563M	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00780620730148	8.1e-05	0.000599042	0.0004	0	0.0003	0.0003	0.0002	6.981e-05	0	0.0021	0.0002458	38	154602	rs369602392	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0016	0.0015	5.991e-05	0.0003	0	0.0002	3.761e-05	0.0002	7.752e-05	0.0002	0.0019	0.0001	0.0001	7.709e-05	0.0002	0.0019	7.572e-05	6.278e-05	0.0010	0.0007	7.22e-05	0	0.0002	0	0	0	0	4.41e-05	0	0.0019	0.514	0.07401	T	0.357	0.17115	T	0.074	0.24142	B	0.003	0.08700	B	0.180273	0.17122	N	0.635409	1	0.08975	N	-0.205	0.04094	N	0.16	0.60610	T	0.29	0.04161	N	0.226	0.25377	-1.0818	0.07003	T	0.065	0.26913	T	10	0.009949684	0.00223	T	0.007806	0.20720	T	0.043	0.11576	.	.	0.31506500091	0.31122	0.13695969931552174	0.13619	0.423274938894	0.42795	0.436030179262	0.30034	T	0.073223	0.34645	T	-0.538795	0.00341	T	-0.582096	0.14359	T	0.0158014437345499	0.00369	T	0.0173983	0.00096	T	0.16862248	0.37330	0.09700323	0.23072	0.16862248	0.37330	0.09700323	0.23071	-3.396	0.15003	T	.	.	0.059	0.00730	B	.	.	1.638695	0.20919	14.97	0.53802728675152145	0.05011	0.23320	0.22038	N	AEFDBI	0.047127	0.07902	N	-1.27077660288799	0.04032	0.1812331	-1.13372050444516	0.07064	0.3422216	0.0249528128090137	0.13615	0.562547	0.31514	0	0.577304	0.33150	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.36	-1.8	0.07480	0.551000	0.23068	-0.086000	0.12117	-1.762000	0.00675	0.995000	0.38783	0.865000	0.27529	0.864000	0.41028	0.1185:0.3586:0.1218:0.4011	2.771	0.05006	827	0.39843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	675.33	34	chr17	64054814	.	C	T	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=704;ExcessHet=0;FS=4.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.137;SOR=0.732	GT:AD:DP:GQ:PL	0/1:46,29:75:99:689,0,1015	18	0	1	0
chr17	74951577	74951577	C	T	exonic	HID1	.	nonsynonymous SNV	HID1:NM_030630:exon19:c.G2360A:p.R787Q	.	427	1088	7	0	0	7	0.0032066	.	.	.	2808356	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0439561778183	0.0002	0.00119808	0.0007	0	0.0001	0.0001	0	0.0005	0.0016	0.0028	0.0004981	77	154602	rs147346796	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0022	0.0018	0.0001	0.0003	0	0	0	0.0033	0.0002	0.0003	0.0021	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0039	0.01	0.56456	D	0.026	0.55759	D	0.953	0.54283	P	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	.	.	.	-3.33	0.66206	D	0.543	0.57006	-0.2609	0.76063	T	0.335	0.70174	T	9	0.012904733	0.00275	T	0.043956	0.61247	D	0.208	0.49714	.	.	0.468504517574	0.46476	0.4888157855054519	0.48801	0.715199722194	0.61928	0.685037076473	0.64993	T	0.234582	0.60164	T	-0.267374	0.12052	T	-0.163008	0.58081	T	0.149145651269397	0.17035	T	0.990801	0.97198	D	0.5449325	0.69673	0.37739155	0.62840	0.5449325	0.69674	0.37739155	0.62840	-12.787	0.88466	D	.	.	0.446	0.62018	A	.	.	5.089670	0.84982	28.5	0.99947202717053008	0.99913	0.99381	0.95289	D	AEFDBI	0.910679	0.86892	D	0.466338443537541	0.65137	4.784674	0.396310902965415	0.61335	4.332387	0.999981496195505	0.51787	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.96	3.96	0.45097	7.307000	0.78227	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	15.997	0.80055	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	1	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.003086	0.003788	0.02632	1700.33	36	chr17	74951577	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=766;ExcessHet=0;FS=2.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.993;SOR=0.796	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1714,0,1407	18	0	1	0
chr17	76101266	76101266	C	A	exonic	EXOC7	.	nonsynonymous SNV	EXOC7:NM_001282314:exon4:c.G422T:p.R141M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0378504159536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.004	0.74150	D	0.32	0.32998	B	0.244	0.38795	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.48	0.15379	N	0.448	0.48596	-0.8015	0.55056	T	0.198	0.55315	T	7	0.3191113	0.49302	T	0.03785	0.57866	D	0.124	0.34239	0.405	0.43738	0.723402577445	0.72095	.	.	.	.	.	.	.	0.100992	0.40732	T	-0.0610733	0.42738	T	-0.325504	0.41969	T	0.42159089687041	0.29749	T	0.159784	0.01435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	4.505170	0.70502	25.5	0.93455728792751869	0.23240	0.98943	0.88962	D	AEFBI	0.880621	0.80740	D	0.700131903697102	0.79642	7.120684	0.68219019462069	0.81027	7.431805	0.99999999521943	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.84	5.84	0.93373	4.935000	0.63199	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	20.139	0.98050	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	319.83	33	chr17	76101266	.	C	A	319.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.285;DP=931;ExcessHet=0.119;FS=180.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.34;SOR=8.349	GT:AD:DP:GQ:PL	0/1:110,35:145:99:232,0,2335	17	0	2	0
chr17	82019670	82019670	A	G	exonic	CENPX	.	nonsynonymous SNV	CENPX:NM_001271006:exon3:c.T113C:p.M38T,CENPX:NM_001330536:exon3:c.T113C:p.M38T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0855398314856	.	.	6.367e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs767117744	3.577e-06	3.42e-06	2.823e-06	4.351e-06	6.31e-05	1.05e-06	7.6e-07	2.443e-05	1.538e-05	0	0	0	0	0	0	0	0	6.31e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.178	0.31730	T	.	.	.	.	.	.	0.017650	0.27670	U	0.114681	1	0.81001	D	.	.	.	.	.	.	-2.08	0.47514	N	0.394	0.43514	-1.0143	0.25561	T	0.105	0.38464	T	5	0.514854	0.62306	D	0.08554	0.74554	D	0.217	0.51112	0.74	0.87232	0.262679179196	0.25893	0.10441969508010239	0.10371	0.00146351753017	0.00125	0.52828836441	0.42793	T	0.019568	0.45595	T	-0.060789	0.42785	T	-0.197317	0.54900	T	0.0798190608620644	0.09964	T	0.509249	0.18617	T	0.17934643	0.39001	0.16536207	0.38259	0.17934643	0.39000	0.16536207	0.38258	-5.495	0.41821	T	.	.	0.094	0.53739	B	.;.;.	.;.;.	0.726220	0.10952	7.619	0.68442608978830899	0.08660	0.63405	0.32079	D	AEFBCI	0.371548	0.45752	N	-0.0971275671908048	0.37517	2.183904	-0.131735045604154	0.34118	1.959054	0.99999993329178	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	3.89	3.89	0.44098	1.255000	0.32512	-0.348000	0.09765	-0.057000	0.16691	0.010000	0.18352	0.000000	0.08366	0.057000	0.15750	1.0:0.0:0.0:0.0	10.316	0.42920	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	920.33	35	chr17	82019670	.	A	G	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=760;ExcessHet=0;FS=2.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.606;SOR=0.949	GT:AD:DP:GQ:PL	0/1:74,45:119:99:934,0,1780	18	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase 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	.	.	.	.	.	.	.	.	0.05263	663.83	33	chr18	669146	.	A	G	663.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.863;DP=1073;ExcessHet=0.119;FS=142.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.19;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,41:179:99:0|1:669145_A_G:434,0,2707:669145	17	0	2	0
chr18	5145708	5145708	T	C	exonic	AKAIN1	.	nonsynonymous SNV	AKAIN1:NM_001145194:exon2:c.A64G:p.S22G,AKAIN1:NM_001330553:exon2:c.A85G:p.S29G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0414708525651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.745435	0.33869	D	.	.	.	.	.	.	-4.0	0.74051	D	0.764	0.77413	0.210	0.86076	D	0.451	0.78503	T	7	0.58763397	0.66200	D	0.041471	0.59942	D	0.368	0.68757	0.165	0.06955	0.139678290688	0.13603	0.20784812355746693	0.20700	.	.	.	.	.	0.215909	0.57792	T	0.361081	0.87336	D	0.280891	0.87171	D	0.985253036022186	0.76303	D	0.771723	0.40231	T	0.6193489	0.73729	0.72949964	0.84017	0.6193489	0.73730	0.72949964	0.84018	-3.7	0.19318	T	.	.	0.584	0.68223	P	.;.	.;.	4.255161	0.64624	24.7	0.9938993812768403	0.62292	0.94542	0.61503	D	AEFIJ	0.664035	0.63335	D	0.669852735885579	0.77659	6.717328	0.672071548485124	0.80263	7.260372	0.997999836182584	0.36288	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	5.428000	0.66226	6.094000	0.53477	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.811	0.78340	938	0.14419	A-kinase anchor protein 7, RI-RII subunit-binding domain;A-kinase anchor protein 7, RI-RII subunit-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	558.33	37	chr18	5145708	.	T	C	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.257;DP=738;ExcessHet=0;FS=4.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=0.382;SOR=1.23	GT:AD:DP:GQ:PL	0/1:59,32:91:99:572,0,1447	18	0	1	0
chr18	5397093	5397093	T	C	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A2140G:p.I714V,EPB41L3:NM_001384683:exon15:c.A1813G:p.I605V,EPB41L3:NM_001384693:exon15:c.A2152G:p.I718V,EPB41L3:NM_001384696:exon15:c.A2086G:p.I696V,EPB41L3:NM_001384697:exon15:c.A2140G:p.I714V,EPB41L3:NM_001384686:exon16:c.A2263G:p.I755V,EPB41L3:NM_001384691:exon16:c.A2176G:p.I726V,EPB41L3:NM_001384695:exon16:c.A2176G:p.I726V,EPB41L3:NM_001384699:exon16:c.A1936G:p.I646V,EPB41L3:NM_001384702:exon16:c.A1882G:p.I628V,EPB41L3:NM_001384704:exon16:c.A1849G:p.I617V,EPB41L3:NM_001384706:exon16:c.A1795G:p.I599V,EPB41L3:NM_001281533:exon17:c.A2299G:p.I767V,EPB41L3:NM_001281535:exon17:c.A1813G:p.I605V,EPB41L3:NM_001330557:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384682:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384684:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384687:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384688:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384689:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384690:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384692:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384694:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384698:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384700:exon17:c.A1918G:p.I640V,EPB41L3:NM_001384701:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384703:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384705:exon17:c.A1918G:p.I640V,EPB41L3:NM_001384685:exon18:c.A2860G:p.I954V,EPB41L3:NM_012307:exon18:c.A2806G:p.I936V	.	.	.	.	.	.	.	.	.	.	.	2196649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.001	0.00255636745804	.	.	5.9e-05	0	8.651e-05	0	0	7.605e-05	0	6.744e-05	6.47e-05	10	154602	rs200496501	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0.0003	3.924e-05	0	0	0	0.0001	0.0002	4.718e-05	7.883e-05	7.88e-05	5.138e-05	0.0001	0.0001	4.496e-05	3.511e-05	7.907e-05	5.993e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.569992	0.11248	N	0.787952	1	0.08975	N	-0.715	0.01801	N	1.02	0.40749	T	0.3	0.04161	N	0.033	0.02088	-1.0141	0.25625	T	0.033	0.14117	T	10	0.013540447	0.00287	T	0.002556	0.05121	T	0.001	0.00016	0.14	0.04369	0.107399877778	0.10242	0.17205787976801756	0.17125	0.130589135316	0.14734	0.210323110223	0.00825	T	0.053242	0.29389	T	-0.615526	0.00117	T	-0.81307	0.01597	T	0.00870374006760398	0.00107	T	0.626037	0.24205	T	0.022685722	0.00950	0.023338962	0.00348	0.022685722	0.00949	0.023338962	0.00348	-3.079	0.11056	T	.	.	0.068	0.02894	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.330259	0.00413	0.008	0.22253262884374156	0.00886	0.01013	0.03819	N	AEFBI	0.055865	0.10280	N	-1.649717432571	0.01036	0.04494794	-1.63078233471407	0.01478	0.06689956	0.959934188654888	0.28457	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	-3.99	0.03798	-1.326000	0.02792	-4.767000	0.01995	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0874:0.3845:0.0862:0.4419	4.885	0.13056	771	0.49057	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	959.33	39	chr18	5397093	.	T	C	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=706;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.155;SOR=0.441	GT:AD:DP:GQ:PL	0/1:36,35:71:99:973,0,1014	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,147:414:99:.:.:11888,6931,9313:.	6	3	10	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	374.99	54	chr18	12814235	.	C	T	374.99	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.272;DP=672;ExcessHet=1.3;FS=210.157;InbreedingCoeff=-0.2243;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.3;SOR=9.066	GT:AD:DP:GQ:PL	0/1:28,11:39:40:40,0,441	13	0	5	1
chr18	14105771	14105771	T	C	exonic	ZNF519	.	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.A769G:p.I257V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00193843885344	0.0059	0.00139776	0.0051	0.0014	0.0024	0	0.0044	0.0078	0.0078	0.0010	0.0051293	793	154602	rs61730995	0.0061	0.0061	0.0062	0.0060	0.0071	0.0060	0.0059	0.0070	0.0069	0.0010	0.0025	0.0054	2.52e-05	0.0055	0.0016	0.0071	0.0057	0.0011	0.0045	0.0045	0.0048	0.0043	0.0064	0.0042	0.0041	0.0059	0.0057	0.0016	0.0658	0.0026	0.0049	0	0.0042	0	0.0064	0.0080	0.0006	.	.	.	0.081	0.41742	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	0.999951	0.52396	D	0.545	0.13751	N	2.47	0.14783	T	.	.	.	0.029	0.00666	-1.0416	0.16830	T	0.046	0.19640	T	8	0.004030198	0.00078	T	0.001938	0.03456	T	.	.	.	.	0.146414634003	0.14194	0.007819620270334771	0.00746	0.0119293356791	0.01126	0.341980665922	0.16735	T	0.001405	0.00865	T	-0.729429	0.00024	T	-0.81486	0.01559	T	0.000302575227879644	0.00002	T	0.153085	0.01317	T	0.03191368	0.03119	0.048176594	0.07102	0.03191368	0.03119	0.048176594	0.07101	-5.127	0.38190	T	.	.	0.091	0.13127	B	.	.	-0.271922	0.02743	0.365	0.21175304037912981	0.00795	0.07287	0.13309	N	AEBCI	.	.	.	-1.10383004578723	0.06575	0.3030468	-1.19034595100075	0.06071	0.2910865	0.148433587701533	0.17398	0.553676	0.25195	0	0.601575	0.49859	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.646	0.646	0.16961	-1.409000	0.02589	.	.	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0E-4:0.0:0.9999	5.628	0.16773	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1627.33	60	chr18	14105771	.	T	C	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=930;ExcessHet=0;FS=4.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.33;SOR=0.713	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1641,0,1620	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	0/1:299,65:364:99:848,0,7083	7	0	10	2
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	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	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.05263	2856.83	33	chr18	31403566	.	C	T	2856.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.056;DP=829;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.073;SOR=0.66	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1316,0,1305	17	0	2	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	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	0/1:34,33:67:99:227,0,301	2	0	16	1
chr18	36126272	36126272	C	T	exonic	SLC39A6	.	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G736A:p.E246K	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0114966959043	0.0030	0.000798722	0.0018	0.0004	0.0009	0	0.0002	0.0027	0.0044	0.0012	0.002044	316	154602	rs117497867	0.0024	0.0024	0.0024	0.0023	0.0040	0.0023	0.0023	0.0027	0.0027	0.0005	0.0011	0.0017	0	0.0004	0.0040	0.0028	0.0022	0.0007	0.0020	0.0020	0.0021	0.0019	0.0034	0.0018	0.0017	0.0030	0.0029	0.0006	0.0044	0.0012	0.0017	0	0.0009	0	0.0034	0.0024	0.0010	0.026	0.46910	D	0.451	0.12920	T	0.488	0.36905	P	0.108	0.31289	B	0.003252	0.35212	N	0.189234	0.910305	0.81001	D	1.445	0.36358	L	1.98	0.21865	T	-0.59	0.17624	N	0.775	0.77413	-1.1055	0.03486	T	0.036	0.15596	T	10	0.021119297	0.00499	T	0.011497	0.29187	T	0.130	0.35528	.	.	0.357313475932	0.35345	0.5273601260192872	0.52660	0.123043681078	0.13866	0.501556277275	0.39045	T	0.025342	0.18971	T	-0.171174	0.25055	T	-0.0163217	0.69271	D	0.0136622601592934	0.00254	T	0.871513	0.57764	D	0.19819176	0.41713	0.105855905	0.25455	0.19819176	0.41712	0.105855905	0.25454	-3.97	0.23353	T	.	.	0.091	0.13268	B	.;.	.;.	3.736871	0.53487	23.4	0.99802658814713141	0.88728	0.91970	0.54658	D	AEFBCI	0.662399	0.63228	D	0.0490367337468013	0.44097	2.690125	0.229083568283562	0.51469	3.329037	0.999999997395298	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	4.704000	0.61519	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78420	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3082.83	45	chr18	36126272	.	C	T	3082.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.715;DP=847;ExcessHet=0.119;FS=7.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.399;SOR=1.116	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1428,0,1416	17	0	2	0
chr18	50270029	50270029	A	C	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.T1635G:p.I545M	.	411	1080	30	1	0	32	0.0145985	.	.	.	3185111	not_provided|MBD1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0058	0.00279553	0.0080	0.0012	0.0020	0	0.0049	0.0105	0.0047	0.0112	0.0073996	1144	154602	rs183864846	0.0086	0.0085	0.0084	0.0087	0.0153	0.0084	0.0084	0.0127	0.0118	0.0016	0.0023	0.0163	0	0.0066	0.0153	0.0091	0.0074	0.0103	0.0064	0.0064	0.0070	0.0059	0.0097	0.0061	0.0060	0.0091	0.0088	0.0018	0.0374	0.0022	0.0196	0	0.0054	0.0034	0.0097	0.0080	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.18198	N	.	.	.	-3.8	0.95696	D	-0.19	0.09965	N	0.191	0.20925	-0.0759	0.80644	T	0.631	0.87078	D	8	0.0028661191	0.00046	T	.	.	.	0.116	0.32463	.	.	0.33174030287	0.32783	.	.	.	.	.	.	.	.	.	.	-0.382911	0.02986	T	-0.308521	0.43817	T	0.0105126473744262	0.00146	T	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-3.092	0.11205	T	.	.	0.166	0.36535	B	.	.	0.307725	0.06832	3.357	0.86566512424548925	0.16622	0.08186	0.14147	N	AEDBCI	0.045029	0.07317	N	-0.740149739767171	0.14903	0.7463552	-0.787896569141984	0.14791	0.7747388	0.999682353112689	0.41756	0.67177	0.52595	0	0.702456	0.74545	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.03	1.44	0.21647	-0.712000	0.05116	-0.187000	0.11075	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.5301:0.2952:0.0:0.1746	4.618	0.11824	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	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	0.009326	0.010101	0.008152	0.003497	0.050000	0.008621	0.009146	0.015152	0.07895	2949.79	33	chr18	50270029	.	A	C	2949.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.077;DP=803;ExcessHet=0.3672;FS=1.567;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.785;SOR=0.575	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1295,0,786	16	0	3	0
chr18	62574990	62574990	C	T	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.C2909T:p.P970L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0262270857971	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1046496869	1.505e-05	1.505e-05	1.77e-05	1.238e-05	1.979e-05	9.85e-06	8.42e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.65	0.36330	T	-4.22	0.75854	D	0.55	0.73375	-0.9331	0.43680	T	0.135	0.44971	T	10	0.4431041	0.58226	T	0.026227	0.49152	D	0.173	0.43840	0.194	0.10571	0.347217280506	0.34334	0.5616954187045847	0.56096	0.302582847708	0.32585	0.816995799541	0.84567	D	0.304701	0.67699	T	-0.0542828	0.43794	T	-0.252104	0.49609	T	0.973516523838043	0.70127	D	0.949005	0.81197	D	0.3905386	0.60070	0.3192482	0.57888	0.3905386	0.60071	0.3192482	0.57887	-4.464	0.30414	T	.	.	0.295	0.55194	B	.;.	.;.	4.652172	0.74163	26.1	0.99917175194822538	0.98518	0.94064	0.60003	D	AEFBCI	0.577934	0.57934	D	0.585522161730142	0.72271	5.779432	0.587692019677241	0.74054	6.072655	0.999997885344293	0.74766	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.77	4.77	0.60425	5.076000	0.64242	7.386000	0.58483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:1.0:0.0:0.0	18.361	0.90317	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1650.33	37	chr18	62574990	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=881;ExcessHet=0;FS=3.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.255;SOR=0.475	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1664,0,1653	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|1:70,22:92:40:0|1:65824683_C_G:40,0,1613:65824683	1	0	18	0
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:83:.:.:83,0,579:.	3	0	9	7
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	2143.27	69	chr18	79373906	.	C	T	2143.27	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:113,0,571:.	11	0	3	5
chr18	80135669	80135669	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A256G:p.T86A	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0074	0.00419329	0.0080	0.0023	0.0016	0.0001	0.0015	0.0105	0.0033	0.0126	0.0081629	1262	154602	rs78503084	0.0099	0.0099	0.0099	0.0098	0.0121	0.0097	0.0097	0.0115	0.0113	0.0014	0.0022	0.0043	0.0001	0.0012	0.0061	0.0113	0.0074	0.0121	0.0060	0.0060	0.0064	0.0056	0.0100	0.0057	0.0055	0.0094	0.0092	0.0018	0	0.0046	0.0049	0.0002	0.0009	0.0204	0.0100	0.0043	0.0087	0.258	0.22312	T	0.281	0.21812	T	0.002	0.09854	B	0.006	0.12133	B	0.001441	0.39044	N	0.176600	0.998761	0.21926	N	1.95	0.52479	M	-0.56	0.71187	T	-0.86	0.30555	N	0.117	0.10626	-1.0448	0.15884	T	0.111	0.39841	T	9	0.0057888627	0.00129	T	.	.	.	0.042	0.11227	.	.	0.779458332734	0.77742	0.2235045365781122	0.22265	0.167435334845	0.18892	0.461018890142	0.33450	T	0.062028	0.31809	T	-0.497291	0.00592	T	-0.473475	0.25142	T	0.00325881748550906	0.00034	T	0.622038	0.23930	T	0.035229754	0.04107	0.03994675	0.04207	0.035229754	0.04107	0.03994675	0.04206	-4.872	0.35419	T	.	.	0.068	0.04396	B	.;.;.	.;.;.	0.943702	0.13196	9.696	0.9386628470318541	0.23874	0.71055	0.34850	D	AEFGBCI	0.069104	0.13663	N	-0.703779194922765	0.15915	0.8063367	-0.572165070206045	0.20220	1.088397	0.893579851091107	0.25909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	0.754	0.17558	0.874000	0.27715	2.696000	0.34125	-0.089000	0.16174	0.003000	0.16062	0.947000	0.28924	0.812000	0.38265	0.5114:0.0:0.1409:0.3477	5.379	0.15483	.	.	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.008152	0.000000	0.000000	0.000000	0.015244	0.018939	0.02632	1659.33	33	chr18	80135669	.	A	G	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=750;ExcessHet=0;FS=5.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.039;SOR=0.373	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1673,0,1275	18	0	1	0
chr18	80138370	80138370	G	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G2957A:p.G986E	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00299521	0.0071	0.0021	0.0013	0.0001	0.0015	0.0103	0.0011	0.0077	0.0073285	1133	154602	rs75868400	0.0094	0.0094	0.0096	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0013	0.0019	0.0043	5.038e-05	0.0012	0.0038	0.0111	0.0069	0.0074	0.0057	0.0057	0.0062	0.0051	0.0097	0.0053	0.0052	0.0091	0.0089	0.0017	0	0.0042	0.0049	0	0.0009	0.0102	0.0097	0.0038	0.0054	0.452	0.08943	T	0.053	0.47336	T	0.961	0.55431	D	0.75	0.56031	P	0.000090	0.51296	D	0.000000	0.999999	0.08975	N	2.125	0.59049	M	.	.	.	-1.54	0.37375	N	0.199	0.21969	-1.0296	0.20583	T	0.102	0.37793	T	8	0.004585892	0.00095	T	.	.	.	0.124	0.34239	.	.	0.784103650021	0.78211	0.11264781931675674	0.11193	0.790937262654	0.65775	0.505969882011	0.39659	T	0.049565	0.28344	T	-0.392373	0.02597	T	-0.32342	0.42198	T	0.019233517373136	0.00629	T	0.681532	0.29028	T	0.061499324	0.12741	0.07782605	0.17375	0.061499324	0.12741	0.07782605	0.17375	-2.606	0.06549	T	.	.	0.113	0.22464	B	.	.	2.095400	0.26658	17.19	0.83447692219610303	0.14731	0.91738	0.54158	D	AEFDBCI	0.237945	0.36014	N	-0.0832294002044983	0.38127	2.22839	-0.187935779817644	0.31978	1.814909	0.998306039354046	0.36726	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.7	3.82	0.43153	1.110000	0.30761	4.319000	0.42992	-0.153000	0.12021	0.796000	0.29669	1.000000	0.68203	0.001000	0.02609	0.0:0.3022:0.5178:0.18	8.098	0.30001	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1307.33	33	chr18	80138370	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.271;DP=836;ExcessHet=0;FS=8.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.031;SOR=0.744	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1321,0,1802	18	0	1	0
chr19	549171	549171	C	T	exonic	GZMM	.	stopgain	GZMM:NM_001258351:exon4:c.C481T:p.Q161X,GZMM:NM_005317:exon4:c.C598T:p.Q200X	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.0061901	0.0142	0.0014	0.0218	0	0.0080	0.0136	0.0177	0.0226	0.0050517	781	154602	rs200398398	0.0058	0.0058	0.0053	0.0063	0.0185	0.0057	0.0057	0.0177	0.0174	0.0009	0.0059	0.0022	2.625e-05	0.0019	0.0061	0.0055	0.0060	0.0185	0.0048	0.0048	0.0045	0.0051	0.0189	0.0045	0.0044	0.0157	0.0146	0.0012	0	0.0082	0.0023	0.0002	0.0011	0.0068	0.0063	0.0066	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	0.767245	0.09575	U	0.816174	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0271905	0.47824	T	0.201792	0.83225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	7.367831	0.96444	36	0.97203068963353823	0.32820	0.02489	0.06965	N	AEFDBIJ	0.036085	0.04752	N	-0.126880149528579	0.36223	2.091002	-0.514698853503994	0.21754	1.178308	2.0296530167206E-4	0.05948	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	0.623	0.16827	0.463000	0.21683	0.058000	0.14093	0.478000	0.22058	0.053000	0.21524	0.000000	0.08366	0.010000	0.09038	0.0:0.6961:0.0:0.3039	4.881	0.13039	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|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	0.009804	0.022472	0.009589	0.009036	0.050000	0.000000	0.009434	0.011450	0.02632	1082.33	39	chr19	549171	.	C	T	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=729;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.698;SOR=0.804	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1096,0,1034	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	0/1:34,23:57:99:559,0,899	17	0	2	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.05263	1842.83	34	chr19	1923156	.	C	T	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.1;DP=766;ExcessHet=0.119;FS=2.751;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.027;SOR=0.507	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1064,0,892	17	0	2	0
chr19	3751517	3751517	C	T	exonic	APBA3	.	nonsynonymous SNV	APBA3:NM_004886:exon9:c.G1432A:p.V478I	.	375	1145	2	0	0	2	0.0008726	.	.	.	2376942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00924361057863	7.7e-05	0.000199681	0.0003	0	0.0004	0	0.0017	0.0005	0	0	0.0001229	19	154602	rs376088061	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0003	0.0002	0	0	0	0	0.0016	0.0010	9.34e-05	0.0002	8.433e-05	0.0001	0.0001	0.0001	0.0001	7.353e-05	7.572e-05	6.277e-05	2.847e-05	1.859e-05	2.405e-05	0	6.533e-05	0	0	0.0010	0	7.353e-05	0	0	0.146	0.25055	T	0.085	0.41074	T	0.008	0.14655	B	0.011	0.15521	B	0.001182	0.39899	N	0.162344	0.999962	0.52935	D	1.59	0.40313	L	0.95	0.43279	T	-0.87	0.23590	N	0.224	0.25130	-1.0624	0.11166	T	0.086	0.33410	T	10	0.019021183	0.00420	T	0.009244	0.24272	T	0.032	0.07718	.	.	0.210429274316	0.20668	0.09733736222389867	0.09664	0.0563879772125	0.06225	0.397884905338	0.24774	T	0.090541	0.38606	T	-0.409402	0.02006	T	-0.589186	0.13736	T	0.0357982339977742	0.02946	T	0.910209	0.68156	D	0.024015607	0.01194	0.03555383	0.02829	0.024015607	0.01193	0.03555383	0.02829	-5.651	0.43255	T	.	.	0.060	0.00979	B	.	.	2.483975	0.32036	18.92	0.98979471862661128	0.49700	0.87428	0.46965	D	AEFBI	0.270417	0.38648	N	-0.295885169782972	0.29306	1.624058	-0.203347510759906	0.31415	1.777711	0.0015400499431388	0.08622	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	2.49	0.29274	3.132000	0.50218	0.743000	0.21176	0.524000	0.24156	0.994000	0.38300	0.275000	0.24072	0.829000	0.39076	0.0:0.6338:0.162:0.2042	5.551	0.16378	976	0.04745	PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	658.33	31	chr19	3751517	.	C	T	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.44;SOR=0.614	GT:AD:DP:GQ:PL	0/1:49,29:78:99:672,0,1145	18	0	1	0
chr19	4254468	4254468	G	C	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon4:c.G384C:p.E128D	.	402	1111	9	0	0	9	0.00403407	.	.	.	3359935	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0593601088614	0.0005	.	0.0008	0.0001	0.0009	0	0	0.0013	0.0016	0.0002	0.0005304	82	154602	rs150087617	0.0006	0.0006	0.0005	0.0006	0.0081	0.0005	0.0005	0.0062	0.0056	0.0003	0.0009	0.0056	2.524e-05	0	0.0081	0.0004	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0006	7.227e-05	0	0.0005	0.0060	0	0	0.0136	0.0009	0.0024	0.0004	0.019	0.50132	D	0.067	0.44302	T	0.025	0.19245	B	0.07	0.27859	B	0.000666	0.42516	D	0.235430	0.99172	0.41458	D	.	.	.	1.29	0.35775	T	-1.96	0.45404	N	0.569	0.59223	-1.0305	0.20292	T	0.082	0.32148	T	10	0.0082217455	0.00187	T	0.05936	0.67638	D	0.068	0.19811	0.279	0.23323	0.447803500395	0.44404	0.4647437693849688	0.46393	1.16914040415	0.79708	0.837913870811	0.87776	D	0.044406	0.26805	T	-0.361764	0.04032	T	-0.355804	0.38538	T	0.0260679153479616	0.01416	T	0.948805	0.80311	D	0.2623805	0.49299	0.14808603	0.35018	0.2623805	0.49299	0.14808603	0.35017	-5.245	0.39396	T	.	.	0.557	0.67085	A	.;.	.;.	2.818147	0.37116	20.4	0.99622257348256038	0.75473	0.91130	0.52919	D	AEFDBI	0.385219	0.46605	N	-0.23623879006966	0.31655	1.777267	-0.135458384345548	0.33973	1.949063	3.77584693945741E-5	0.03775	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	2.06	0.25932	1.490000	0.35181	2.889000	0.35378	0.532000	0.24858	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.3356:0.0:0.6644:0.0	7.733	0.27961	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009346	0.000000	0.010870	0.017483	0.000000	0.008621	0.006098	0.000000	0.02632	891.33	33	chr19	4254468	.	G	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.454;DP=751;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.31;SOR=0.969	GT:AD:DP:GQ:PL	0/1:45,39:84:99:905,0,1345	18	0	1	0
chr19	4792567	4792567	A	T	exonic	FEM1A	.	nonsynonymous SNV	FEM1A:NM_018708:exon1:c.A713T:p.Q238L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.02217067243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.84e-07	0	1.381e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.718	0.03949	T	0.27	0.22359	T	0.0	0.02946	B	0.002	0.06944	B	0.195110	0.16744	U	0.435882	0.99821	0.22287	N	0.065	0.08236	N	-0.26	0.67187	T	-0.69	0.19720	N	0.458	0.49511	-0.9730	0.36562	T	0.133	0.44504	T	10	0.12011528	0.22744	T	0.022171	0.45031	T	0.200	0.48430	0.411	0.44723	0.224531998449	0.22054	0.4340207842918106	0.43319	.	.	0.521978974342	0.41905	T	0.009759	0.08861	T	-0.0368382	0.46418	T	-0.290692	0.45700	T	0.106304988265038	0.13037	T	0.521048	0.16963	T	0.05551585	0.10801	0.025972443	0.00663	0.05551585	0.10800	0.025972443	0.00663	-2.518	0.05905	T	.	.	0.139	0.30318	B	.	.	2.570363	0.33303	19.30	0.72865369040899564	0.10123	0.81849	0.41172	D	AEFDBCI	0.307896	0.41464	N	-0.604942631989398	0.18794	0.9786615	-0.554521363132606	0.20686	1.115625	0.99999999351567	0.74766	0.733237	0.96898	0	0.672317	0.65289	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	3.23	2.14	0.26518	3.874000	0.55814	6.566000	0.55953	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.4663:0.4069:0.1269:0.0	4.323	0.10468	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1594.33	33	chr19	4792567	.	A	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.673;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.69;SOR=0.69	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1608,0,1372	18	0	1	0
chr19	5693698	5693698	C	T	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon16:c.G1804A:p.G602S,LONP1:NM_004793:exon16:c.G2392A:p.G798S,LONP1:NM_001276479:exon17:c.G2200A:p.G734S	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	656598	LONP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.293	.	.	0.00279553	0.0009	0	8.666e-05	0.0125	0	0	0	0	0.000912	141	154602	rs201378376	0.0003	0.0003	0.0003	0.0003	0.0066	0.0003	0.0003	0.0060	0.0057	5.974e-05	0.0001	0	0.0066	0	0	5.396e-06	0.0027	4.637e-05	0.0005	0.0005	0.0004	0.0007	0.0127	0.0004	0.0004	0.0103	0.0094	0	0	0.0003	0	0.0127	0	0	0	0.0019	0.0010	0.078	0.33923	T	0.04	0.52727	D	0.988	0.62325	D	0.901	0.63994	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.025	0.86340	M	1.33	0.35031	T	-4.73	0.80340	D	0.759	0.85343	-0.5008	0.68621	T	0.196	0.55071	T	10	0.008383751	0.00190	T	.	.	.	0.293	0.61272	.	.	0.61189578863	0.60877	0.8850105677541368	0.88470	0.937719449075	0.72095	0.535802125931	0.43853	T	0.647036	0.89243	D	-0.286556	0.09985	T	-0.170769	0.57372	T	0.135733506483197	0.15902	T	0.945105	0.79107	D	0.84205866	0.86756	0.66378164	0.80290	0.8723456	0.89049	0.6907878	0.81806	-10.483	0.76749	D	0.2311561327152985	0.31280	0.636	0.73148	P	.;.;.;.;.;.	.;.;.;.;.;.	4.670258	0.74633	26.2	0.99842201487616877	0.92229	0.99505	0.96840	D	AEFDBHCI	0.853690	0.77066	D	0.635338201706812	0.75420	6.303185	0.508798183693544	0.68580	5.239811	0.999999999998379	0.74766	0.751926	0.98777	0	0.672317	0.65289	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	4.35	4.35	0.51454	7.134000	0.76871	6.827000	0.56683	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.0:1.0:0.0:0.0	14.371	0.66405	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1991.33	34	chr19	5693698	.	C	T	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=753;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.858;SOR=0.815	GT:AD:DP:GQ:PL	0/1:51,78:129:99:2005,0,1157	18	0	1	0
chr19	7520449	7520472	GCTGCAGCTGCCGCGGCCGCTGCA	-	exonic	ZNF358	.	nonframeshift deletion	ZNF358:NM_018083:exon2:c.1207_1230del:p.A409_A416del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.785e-05	0	0.0001	0	0	0.0001	0	6.953e-05	3.84e-05	1	26028	rs763184313	9.779e-05	8.425e-05	9.952e-05	9.607e-05	0.0012	8.297e-05	7.722e-05	0.0004	0.0002	0.0001	0.0002	0	0.0003	0	0.0012	9.114e-05	4.443e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0005	9.061e-05	7.578e-05	0.0001	9.186e-05	0.0001	0	0	0	0.0005	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1506.3	25	chr19	7520448	.	TGCTGCAGCTGCCGCGGCCGCTGCA	T	1506.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.17;ReadPosRankSum=3.13;SOR=0.603	GT:AD:DP:GQ:PL	0/1:26,39:65:99:1520,0,910	18	0	1	0
chr19	7527562	7527562	C	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon5:c.C614A:p.P205H	Mucolipidosis IV, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1807551	Inborn_genetic_diseases|Mucolipidosis_type_IV	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0392949051233	.	.	8.258e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs748095297	4.451e-05	4.652e-05	4.361e-05	4.542e-05	0.0009	3.579e-05	3.261e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.133e-05	4.972e-05	0	5.257e-05	5.253e-05	5.14e-05	5.38e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.015	0.52492	D	0.018	0.59732	D	0.944	0.53183	P	0.667	0.53020	P	0.181852	0.17081	N	0.620823	0.999734	0.48635	D	0.895	0.22405	L	-1.03	0.76430	T	-0.96	0.25551	N	0.357	0.39861	-0.9572	0.39699	T	0.116	0.41097	T	10	0.2601986	0.43466	T	0.039295	0.58727	D	0.208	0.49714	0.347	0.34274	0.745880705821	0.74359	0.5336003601180597	0.53285	1.31083839466	0.83213	0.389782726765	0.23639	T	0.222918	0.58692	T	-0.167264	0.25650	T	-0.280397	0.46763	T	0.262430497310012	0.23421	T	0.686031	0.29438	T	0.11026632	0.26066	0.0516083	0.08339	0.11026632	0.26065	0.0516083	0.08339	-4.817	0.34789	T	.	.	0.085	0.10304	B	.	.	2.840563	0.37476	20.5	0.99301585492182309	0.58650	0.93121	0.57382	D	AEFGBI	0.272766	0.38832	N	-0.317868729998295	0.28469	1.570534	-0.266455927605413	0.29211	1.634751	0.999958825085499	0.48110	0.732398	0.92422	0	0.633656	0.55848	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.51	4.51	0.54589	3.141000	0.50288	5.865000	0.50473	0.549000	0.26987	0.695000	0.28578	1.000000	0.68203	0.061000	0.16044	0.0:1.0:0.0:0.0	12.910	0.57566	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1592.33	36	chr19	7527562	.	C	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.835;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.002;SOR=0.687	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1606,0,1546	18	0	1	0
chr19	8110896	8110896	A	G	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon34:c.T4282C:p.C1428R,FBN3:NM_032447:exon34:c.T4282C:p.C1428R	.	409	1107	6	0	0	6	0.0027027	.	.	.	1403373	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.869	0.166884075673	0.0002	0.000599042	0.0002	0.0003	0.0003	0	0	0.0002	0	0.0001	0.0002199	34	154602	rs200146570	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0.0002	0.0003	0	0	0	0.0019	0.0003	0.0005	8.115e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0.0170	0.0003	0	0.0002	0.0	0.91255	D	0.007	0.69154	D	0.997	0.70673	D	0.996	0.84481	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.915	0.99793	H	-5.91	0.99439	D	-10.74	0.99174	D	0.98	0.99015	0.992	0.97054	D	0.990	0.99716	D	10	0.98437643	0.98628	D	0.166884	0.84539	D	0.869	0.96059	.	.	0.955637592232	0.95516	0.9840678082431925	0.98399	0.99068493261	0.74062	0.635872840881	0.57978	T	0.652223	0.89461	D	0.365812	0.87688	D	0.586624	0.96623	D	0.995267927646637	0.87117	D	0.985476	0.95021	D	0.9654894	0.97827	0.9624825	0.99103	0.9654894	0.97827	0.9624825	0.99104	-11.784	0.83782	D	.	.	0.899	0.82708	P	.;.;.	.;.;.	4.074000	0.60556	24.2	0.99558227658864051	0.71583	0.96691	0.70426	D	AEFDGBI	0.874508	0.79742	D	0.665124312258945	0.77350	6.658051	0.427400434454445	0.63278	4.558406	0.999999051882031	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	8.391000	0.90063	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	1.0:0.0:0.0:0.0	11.506	0.49720	923	0.18507	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1960.33	34	chr19	8110896	.	A	G	1960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.135;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.614;SOR=0.744	GT:AD:DP:GQ:PL	0/1:74,86:160:99:1974,0,1757	18	0	1	0
chr19	8147136	8147136	C	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon3:c.G218T:p.R73M,FBN3:NM_032447:exon3:c.G218T:p.R73M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.0603196479403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.992	0.64738	D	0.707	0.54387	P	0.000016	0.62929	U	0.064498	0.936742	0.26909	N	1.905	0.50856	L	-2.31	0.87750	D	-2.15	0.48687	N	0.553	0.66016	-0.2177	0.77212	T	0.568	0.84331	D	10	0.626688	0.68283	D	0.06032	0.67963	D	0.497	0.78163	0.561	0.68093	0.818387826158	0.81668	0.6220054713421606	0.62133	0.637984465512	0.57542	0.530652701855	0.43126	T	0.056469	0.30297	T	0.0704861	0.60908	D	-0.136528	0.60419	T	0.858978152275085	0.50958	D	0.684232	0.29249	T	0.22814456	0.45528	0.25093457	0.50695	0.22814456	0.45528	0.25093457	0.50694	-4.697	0.33367	T	.	.	0.318	0.54383	B	.;.;.	.;.;.	3.377462	0.46700	22.3	0.95293566180184119	0.26605	0.75518	0.36979	D	AEFDBI	0.427306	0.49131	N	0.183833086879717	0.50421	3.23241	0.105109508215846	0.44809	2.755562	0.99879071726271	0.37689	0.560101	0.30754	0	0.59043	0.45803	0	0.26897	0.05253	2	0.530356	0.10902	0	.	.	3.98	2.93	0.33092	1.759000	0.38049	.	.	0.549000	0.26987	1.000000	0.71638	0.931000	0.28545	0.269000	0.23743	0.0:0.8675:0.0:0.1325	6.569	0.21725	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	.	.	.	.	.	.	.	.	0.02632	1197.33	34	chr19	8147136	.	C	A	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=747;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.544;SOR=0.565	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1211,0,1312	18	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,82:466:99:0|1:8888826_T_*:2463,0,13936:8888826	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|1:295,35:330:99:0|1:8900009_C_T:582,0,12282:8900009	5	0	14	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	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	.	.	.	.	.	.	.	.	0.07692	268.84	198	chr19	8908599	.	T	C	268.84	.	AC=2;AF=0.077;AN=26;BaseQRankSum=4.28;DP=2929;ExcessHet=0.119;FS=79.1;InbreedingCoeff=-0.1644;MLEAC=3;MLEAF=0.115;MQ=59.33;MQRankSum=-8.269;QD=0.7;ReadPosRankSum=0.602;SOR=6.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,16:217:67:0|1:8908590_A_G:67,0,8392:8908590	11	0	2	6
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	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	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	263.59	201	chr19	8908602	.	C	T	263.59	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.14;DP=2938;ExcessHet=0.119;FS=37.273;InbreedingCoeff=-0.1744;MLEAC=3;MLEAF=0.125;MQ=59.4;MQRankSum=-9.666;QD=0.68;ReadPosRankSum=1.04;SOR=7.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,16:219:61:0|1:8908590_A_G:61,0,8476:8908590	10	0	2	7
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	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	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	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	.	.	.	.	.	.	.	.	0.07692	265.25	205	chr19	8908604	.	G	T	265.25	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.87;DP=2948;ExcessHet=0.119;FS=37.613;InbreedingCoeff=-0.1529;MLEAC=3;MLEAF=0.115;MQ=59.4;MQRankSum=-9.69;QD=0.69;ReadPosRankSum=1.23;SOR=7.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,16:217:67:0|1:8908590_A_G:67,0,8392:8908590	11	0	2	6
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	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	.	.	.	.	.	.	.	.	0.07143	216.19	203	chr19	8908608	.	T	C	216.19	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.22;DP=2925;ExcessHet=0.119;FS=34.742;InbreedingCoeff=-0.1344;MLEAC=3;MLEAF=0.107;MQ=59.37;MQRankSum=-9.761;QD=0.56;ReadPosRankSum=1.49;SOR=7.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,16:218:64:0|1:8908590_A_G:64,0,8434:8908590	12	0	2	5
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	0/1:199,23:222:99:347,0,8239	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	0/1:193,22:215:99:343,0,8038	11	0	8	0
chr19	8936792	8936792	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.C34163T:p.T11388I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00270357607377	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs201448267	4.994e-05	4.994e-05	4.765e-05	5.226e-05	0.0002	4.059e-05	3.734e-05	8.862e-05	6.428e-05	0	0.0002	0	0	0	0.0002	5.666e-05	0	1.159e-05	3.297e-05	3.289e-05	5.156e-05	1.35e-05	0.0002	1.264e-05	8e-06	1.173e-05	6.25e-06	0	0	6.557e-05	0	0	0	0	4.419e-05	0	0.0002	0.181	0.21884	T	0.201	0.27503	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-2.08	0.47514	N	0.015	0.00181	-0.9136	0.46403	T	0.005	0.01506	T	8	0.042087615	0.02924	T	0.002704	0.05550	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.14183620164242722	0.14106	.	.	0.23468798399	0.02333	T	.	.	.	-0.654917	0.00068	T	-0.893806	0.00547	T	0.0160193111448912	0.00383	T	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-3.425	0.15395	T	.	.	0.109	0.20857	B	.	.	-0.925636	0.00884	0.032	0.25225529500980681	0.01153	0.01221	0.04330	N	AEFBI	0.033483	0.03981	N	-1.56988617404825	0.01422	0.06200181	-1.63547762604549	0.01453	0.06571566	0.00114290170143153	0.08272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.68	-4.41	0.03339	-1.244000	0.03013	.	.	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.138:0.2413:0.4334:0.1873	2.608	0.04588	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2038.33	127	chr19	8936792	.	G	A	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=1822;ExcessHet=0;FS=1.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.527;SOR=0.597	GT:AD:DP:GQ:PL	0/1:103,79:182:99:2052,0,2836	18	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N,SHFL:NM_018381:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-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	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	166.94	111	chr19	10089677	.	G	C	166.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.657;DP=1634;ExcessHet=1.3;FS=278.301;InbreedingCoeff=-0.1758;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=-0.038;SOR=11.394	GT:AD:DP:GQ:PL	0/1:57,26:83:38:38,0,928	13	0	5	1
chr19	11780141	11780141	G	A	exonic	ZNF441	.	nonsynonymous SNV	ZNF441:NM_152355:exon4:c.G317A:p.S106N	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000938008950386	0.0008	0.000798722	0.0007	0.0003	0.0005	0	0	0.0011	0.0011	0.0005	0.000718	111	154602	rs140672079	0.0008	0.0008	0.0008	0.0007	0.0043	0.0007	0.0007	0.0030	0.0026	0.0003	0.0008	0.0035	0	0.0001	0.0043	0.0007	0.0013	0.0006	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0012	0.0035	0	0	0	0.0011	0	0.0002	0.52	0.07259	T	0.677	0.06166	T	0.969	0.56768	D	0.72	0.54860	P	.	.	.	.	1	0.08975	N	0.465	0.13073	N	3.33	0.06138	T	-1.47	0.35991	N	0.123	0.11483	-1.0675	0.09971	T	0.014	0.05513	T	9	0.009362161	0.00211	T	9.38E-4	0.00934	T	0.040	0.10527	.	.	0.374613414588	0.37068	0.032246392009627166	0.03172	0.438327093	0.43869	0.246487006545	0.03407	T	0.016236	0.13458	T	-0.704976	0.00034	T	-0.835866	0.01163	T	0.0175718271299223	0.00491	T	0.115488	0.00878	T	0.051034898	0.09311	0.059529003	0.11188	0.051034898	0.09310	0.059529003	0.11188	-6.178	0.47744	T	.	.	0.113	0.22171	B	.	.	-0.504586	0.01852	0.149	0.45317515677906656	0.03548	0.00004	0.00092	N	AEFBCI	0.036284	0.04810	N	-0.919849968724229	0.10378	0.4956522	-1.1275954824752	0.07176	0.3481125	3.00872611486444E-4	0.06406	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	1.04	-0.191	0.12601	-1.873000	0.01729	.	.	-0.501000	0.05019	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4037:0.5963:0.0	4.748	0.12421	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	0.001511	0.000000	0.002717	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1546.33	33	chr19	11780141	.	G	A	1546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=1102;ExcessHet=0;FS=5.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.551;SOR=1.136	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1560,0,1911	18	0	1	0
chr19	13286509	13286509	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon20:c.G3550A:p.V1184I,CACNA1A:NM_001127222:exon20:c.G3547A:p.V1183I	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	413495	Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0375576469943	8.2e-05	.	7.834e-05	0	0	0	0	5.516e-05	0.0033	0.0004	4.53e-05	7	154602	rs373224251	4.691e-05	6.049e-05	4.938e-05	4.438e-05	0.0004	3.708e-05	3.337e-05	8.068e-05	6.11e-05	3.519e-05	0	0	5.248e-05	0	0.0004	4.343e-05	3.761e-05	0.0002	3.316e-05	3.953e-05	1.294e-05	5.44e-05	7.34e-05	1.27e-05	8.04e-06	1.946e-05	1.039e-05	7.34e-05	0	0	0	0	0	0	2.949e-05	0	0	0.263	0.16412	T	0.324	0.18959	T	.	.	.	.	.	.	0.000972	0.00718	N	4.964030	0.999009	0.21718	N	0.925	0.23481	L	-3.76	0.95561	D	-0.33	0.12472	N	0.067	0.06587	-0.1490	0.78940	T	0.695	0.89488	D	10	0.09695348	0.17426	T	0.037558	0.57689	D	0.229	0.52916	.	.	0.706178385632	0.70362	0.24626844213492569	0.24540	0.0127536541527	0.01229	0.430630326271	0.29295	T	0.187558	0.54119	T	-0.191162	0.22086	T	-0.264059	0.48418	T	0.0290280684718116	0.01842	T	0.821218	0.48050	T	0.0601925	0.12321	0.042806953	0.05182	0.0601925	0.12320	0.042806953	0.05182	-2.082	0.04457	T	0.14665862508204894	0.16934	0.093	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.267017	0.28969	17.97	0.89274094206723142	0.18657	0.66276	0.33022	D	AEFDBI	0.167898	0.29461	N	-0.495623386615113	0.22223	1.185146	-0.325608361331903	0.27275	1.512282	2.77614086459784E-4	0.06300	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.3	3.19	0.35720	1.152000	0.31275	1.752000	0.28483	0.522000	0.23927	0.798000	0.29695	0.927000	0.28453	0.291000	0.24285	0.0:0.7856:0.0:0.2144	9.615	0.38850	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	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	838.33	33	chr19	13286509	.	C	T	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.498;DP=760;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=-1.045;SOR=0.918	GT:AD:DP:GQ:PL	0/1:65,41:106:99:852,0,1579	18	0	1	0
chr19	14458262	14458262	C	T	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon9:c.C1306T:p.R436W,PKN1:NM_213560:exon9:c.C1324T:p.R442W	.	387	1127	8	0	0	8	0.00353669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0287725303051	0.0011	0.000998403	0.0013	0.0004	0.0005	0	0	0.0006	0	0.0061	0.0010931	169	154602	rs35132656	0.0008	0.0008	0.0007	0.0010	0.0054	0.0008	0.0008	0.0050	0.0048	0.0002	0.0005	0.0006	0	1.872e-05	0.0028	0.0006	0.0007	0.0054	0.0006	0.0006	0.0006	0.0006	0.0039	0.0005	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0009	0.0002	0	0	0.0006	0.0014	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.925	0.71341	D	0.039511	0.24162	U	0.350112	0.576939	0.32342	D	3.095	0.87515	M	1.93	0.22881	T	-6.48	0.91741	D	0.625	0.64223	-0.6932	0.60759	T	0.140	0.45847	T	10	0.016739577	0.00354	T	0.028773	0.51400	D	0.209	0.49871	.	.	0.547422301856	0.54398	0.7786340224478328	0.77814	1.0828414072	0.77184	0.76443362236	0.76591	T	0.457017	0.79555	T	-0.283391	0.10311	T	-0.177098	0.56790	T	0.12345003417635	0.14764	T	0.985401	0.94968	D	0.3336085	0.55764	0.37511083	0.62662	0.3336085	0.55764	0.37511083	0.62662	-10.668	0.77947	D	.	.	0.572	0.68048	P	.;.	.;.	3.815796	0.55062	23.6	0.99893318694418931	0.96666	0.72300	0.35393	D	AEFGBI	0.542812	0.55840	D	0.212358418882343	0.51797	3.358268	0.0499868895560545	0.42072	2.538334	0.0124051672815696	0.12323	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.14	-2.36	0.06282	0.033000	0.13642	.	.	-0.224000	0.07868	0.931000	0.32310	0.001000	0.17328	0.997000	0.79791	0.6371:0.3629:0.0:0.0	12.423	0.54864	964	0.07719	Serine/threonine-protein kinase N, C2 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	0.015152	0.002717	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	1870.33	33	chr19	14458262	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=768;ExcessHet=0;FS=2.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.29;SOR=0.678	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1884,0,1802	18	0	1	0
chr19	15454783	15454783	C	T	exonic	RASAL3	.	nonsynonymous SNV	RASAL3:NM_022904:exon12:c.G1832A:p.R611Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.198454466812	.	.	0.0007	0	0.0017	0	0	0.0003	0	0.0020	0.0003493	54	154602	rs375317705	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	3.004e-05	0.0008	0	0	1.91e-05	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	7.216e-05	0	0.0009	0	0	0	0	0.0001	0.0005	0.0015	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.005984	0.32354	U	0.000000	0.999996	0.58761	D	3.765	0.95136	H	-2.49	0.89145	D	-3.83	0.72120	D	0.93	0.93487	0.963	0.96596	D	0.863	0.95451	D	10	0.6493167	0.69510	D	0.198454	0.86596	D	0.892	0.96910	0.82	0.93328	0.912214098907	0.91133	0.8135559474302327	0.81311	0.892393200294	0.70274	0.857813417912	0.90787	D	0.795899	0.94745	D	0.185084	0.72510	D	0.457705	0.93758	D	0.623106896877289	0.37333	D	0.943106	0.78551	D	0.8729469	0.89097	0.78805965	0.87525	0.8729469	0.89098	0.78805965	0.87526	-12.111	0.85388	D	.	.	0.824	0.78447	P	.	.	7.400418	0.96478	36	0.99958454264437446	0.99990	0.96538	0.69640	D	AEFDBCI	0.937257	0.93478	D	0.914162295203197	0.92435	11.42216	0.820287212722575	0.91168	10.75152	0.999999999999557	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.61531	0.40942	0	0.699908	0.69081	0	.	.	4.79	4.79	0.60909	7.897000	0.85944	.	.	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.707	0.77348	651	0.62880	Ras GTPase-activating domain|Ras GTPase-activating protein, conserved site|Ras GTPase-activating domain|Ras GTPase-activating 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	976.33	40	chr19	15454783	.	C	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=730;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.586;SOR=0.934	GT:AD:DP:GQ:PL	0/1:28,40:68:99:990,0,671	18	0	1	0
chr19	15615762	15615762	G	A	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon2:c.G146A:p.R49Q	.	413	1090	19	0	0	19	0.00864029	.	.	.	2811763	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0053	0.00299521	0.0051	0.0013	0.0052	0	0.0020	0.0075	0.0067	0.0015	0.0051099	790	154602	rs146396294	0.0059	0.0059	0.0058	0.0059	0.0156	0.0057	0.0057	0.0130	0.0120	0.0012	0.0055	0.0320	0	0.0019	0.0156	0.0060	0.0074	0.0014	0.0053	0.0053	0.0054	0.0051	0.0071	0.0050	0.0049	0.0063	0.0061	0.0012	0	0.0071	0.0355	0.0002	0.0024	0.0204	0.0069	0.0090	0.0015	.	.	.	0.536	0.09897	T	0.055	0.22733	B	0.016	0.17743	B	0.083553	0.20747	N	0.414645	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	-0.9865	0.33469	T	0.026	0.11264	T	7	0.0040444434	0.00079	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.2536301066541831	0.25277	.	.	0.232589155436	0.02166	T	0.08612	0.37654	T	-0.485463	0.00688	T	-0.459722	0.26629	T	0.0149512533464996	0.00319	T	0.20398	0.02363	T	0.028550949	0.02209	0.05965641	0.11235	0.028550949	0.02209	0.05965641	0.11234	-2.338	0.04767	T	.	.	0.094	0.14568	B	.;.	.;.	0.036254	0.04538	1.231	0.91932185880499129	0.21256	0.01058	0.03933	N	AEFDBI	.	.	.	-1.35196221493389	0.03105	0.1381544	-1.54099337002564	0.02038	0.09318247	0.00241220773684499	0.09408	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107488	0.23243	2.32	-4.64	0.03109	-0.801000	0.04656	.	.	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2944:0.0:0.7056:0.0	9.609	0.38817	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.015152	0.021739	0.017544	0.050000	0.008621	0.015244	0.000000	0.02632	2133.33	186	chr19	15615762	.	G	A	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=1448;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=2.94;SOR=0.758	GT:AD:DP:GQ:PL	0/1:116,90:206:99:2147,0,2583	18	0	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.1053	5960.41	33	chr19	18266981	.	T	C	5960.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.894;DP=1301;ExcessHet=0.0101;FS=0.904;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.36;SOR=0.648	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3336,323,0	16	1	2	0
chr19	19544848	19544848	C	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.C2303G:p.A768G	.	415	1074	33	0	0	33	0.0151307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0013	0.00279553	0.0042	0.0008	0.0029	0.0001	0.0002	0.0028	0.0054	0.0154	0.0032212	498	154602	rs183579609	0.0025	0.0025	0.0020	0.0031	0.0231	0.0025	0.0024	0.0199	0.0187	0.0009	0.0017	0.0043	5.048e-05	0.0004	0.0231	0.0016	0.0031	0.0156	0.0020	0.0020	0.0018	0.0023	0.0161	0.0018	0.0018	0.0133	0.0122	0.0009	0	0.0015	0.0063	0	9.409e-05	0.0102	0.0020	0.0028	0.0161	0.281	0.15458	T	0.365	0.16766	T	0.67	0.41173	P	0.138	0.33406	B	0.004102	0.34102	N	0.294180	0.973073	0.25567	N	0	0.06538	N	2.92	0.09915	T	-1.73	0.41046	N	0.178	0.20660	-1.0066	0.27973	T	0.012	0.04416	T	10	0.006175101	0.00139	T	.	.	.	0.026	0.05648	.	.	0.221734844693	0.21761	0.48943640471560984	0.48863	0.540324238068	0.51227	0.587623178959	0.51159	T	0.059749	0.31200	T	-0.638053	0.00086	T	-0.676322	0.07210	T	0.00500560574170787	0.00054	T	0.763824	0.39073	T	0.12832758	0.30005	0.07520777	0.16535	0.12832758	0.30005	0.07520777	0.16534	-3.199	0.12468	T	.	.	0.110	0.21239	B	.;.	.;.	2.135784	0.27195	17.38	0.98322670361795883	0.40261	0.14627	0.18502	N	AEFBI	0.097155	0.19600	N	-0.415863986299695	0.24913	1.348598	-0.422221171552598	0.24347	1.332705	0.0472752000595685	0.14724	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.89	2.7	0.31007	1.369000	0.33832	.	.	0.524000	0.24156	0.011000	0.18532	0.640000	0.25910	0.920000	0.45560	0.0:0.6119:0.1984:0.1897	4.381	0.10728	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005155	0.012262	0.035088	0.000000	0.017241	0.003049	0.022727	0.05263	3867.83	36	chr19	19544848	.	C	G	3867.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.468;DP=872;ExcessHet=0.119;FS=1.106;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.77;SOR=0.612	GT:AD:DP:GQ:PL	0/1:31,67:98:99:1712,0,824	17	0	2	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.07895	4946.79	34	chr19	19563561	.	C	T	4946.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.266;DP=939;ExcessHet=0.3672;FS=0.843;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.945;SOR=0.759	GT:AD:DP:GQ:PL	0/1:69,75:144:99:1727,0,1502	16	0	3	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70:70:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1663,153,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70:70:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1663,153,0:20624327	11	5	0	3
chr19	21143626	21143626	T	G	exonic	ZNF431	.	nonsynonymous SNV	ZNF431:NM_001319124:exon2:c.T79G:p.Y27D,ZNF431:NM_133473:exon2:c.T79G:p.Y27D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00202623354038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.446e-06	1.375e-06	1.159e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.111	0.57587	T	0.167	0.28604	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	5.89	0.44065	T	-1.11	0.28703	N	0.318	0.48963	-0.9305	0.44066	T	0.009	0.03183	T	8	0.08859047	0.15269	T	0.002026	0.03668	T	0.005	0.00259	0.452	0.51448	0.128392430309	0.12331	0.09342243614942818	0.09274	0.187246192244	0.21039	0.47794175148	0.35773	T	0.038451	0.25516	T	-0.243487	0.14907	T	-0.587529	0.13880	T	0.0634949071098074	0.07706	T	0.153285	0.14697	T	0.14771189	0.33756	0.16952212	0.38992	0.14771189	0.33755	0.16952212	0.38991	-3.233	0.12888	T	.	.	0.188	0.64554	B	.;.;.;.;.	.;.;.;.;.	0.618859	0.09873	6.634	0.69241133234252761	0.08909	0.00945	0.03645	N	AEFDBHCI	0.028309	0.02470	N	-1.16382243217604	0.05556	0.2535953	-1.25560222247687	0.05048	0.2396441	0.996161045526238	0.34566	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.683762	0.67416	0	.	.	0.461	0.461	0.15901	0.279000	0.18532	.	.	0.334000	0.19664	0.006000	0.17386	0.000000	0.08366	0.009000	0.08673	.	.	.	988	0.01987	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	980.33	33	chr19	21143626	.	T	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=763;ExcessHet=0;FS=7.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.249;SOR=1.396	GT:AD:DP:GQ:PL	0/1:71,43:114:99:994,0,1705	18	0	1	0
chr19	32996166	32996166	G	A	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon11:c.C1280T:p.A427V	.	416	1101	5	0	0	5	0.00226552	.	.	.	2388944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00594448843284	.	.	0.0002	0	0.0002	0	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs139766778	0.0001	0.0001	0.0001	0.0002	0.0061	0.0001	0.0001	0.0045	0.0039	0.0001	0.0003	0	0	1.875e-05	0.0061	0.0001	0.0002	0.0003	9.849e-05	9.842e-05	0.0001	8.056e-05	0.0002	6.002e-05	4.876e-05	5.286e-05	3.339e-05	2.406e-05	0	0.0002	0	0	0	0.0102	0.0001	0	0.0002	0.184	0.21634	T	0.085	0.41074	T	0.005	0.12996	B	0.009	0.14300	B	0.013872	0.28706	N	0.418879	0.905536	0.27615	N	2.215	0.62545	M	2.16	0.19166	T	-1.1	0.28497	N	0.133	0.12913	-1.0432	0.16354	T	0.045	0.19234	T	10	0.04398924	0.03307	T	0.005944	0.15490	T	0.019	0.03383	.	.	0.251116650651	0.24721	0.22848835657659025	0.22763	0.343453448918	0.36273	0.260378658772	0.04935	T	0.067602	0.33244	T	-0.310146	0.07735	T	-0.683279	0.06785	T	0.0310140974659691	0.02148	T	0.727127	0.34152	T	0.07723123	0.17516	0.088110395	0.20524	0.07723123	0.17515	0.088110395	0.20524	-3.77	0.20357	T	.	.	0.102	0.17785	B	.	.	1.983681	0.25203	16.68	0.91224028201092999	0.20481	0.65544	0.32773	D	AEFDBHI	0.162081	0.28822	N	-0.487404883143536	0.22492	1.201421	-0.404978197767234	0.24850	1.363168	0.00650907335597471	0.11235	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.86	2.6	0.30173	1.294000	0.32971	4.433000	0.43357	-0.866000	0.02592	0.492000	0.26894	1.000000	0.68203	0.544000	0.30032	0.2139:0.2178:0.5683:0.0	5.339	0.15280	693	0.58582	BRO1 domain|BRO1 domain|BRO1 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	752.33	49	chr19	32996166	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.332;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=1.69;QD=7.17;ReadPosRankSum=-1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,37:105:99:0|1:32996165_G_C:766,0,1622:32996165	18	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	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	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/1:150,33:183:99:301,0,4407	13	0	6	0
chr19	35668637	35668637	C	T	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.C268T:p.R90W,UPK1A:NM_007000:exon3:c.C268T:p.R90W	.	416	1098	7	1	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.110512869742	7.7e-05	0.00139776	0.0011	0.0003	0.0001	0	0	8.484e-05	0	0.0071	0.0007956	123	154602	rs368559520	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0050	0.0049	0.0002	2.243e-05	0	0	0	0.0017	5.397e-05	0.0004	0.0054	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0046	0.0003	0	6.559e-05	0	0	0	0	2.941e-05	0	0.0071	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	0.999735	0.48635	D	1.385	0.34509	L	-1.39	0.80387	T	-4.46	0.82341	D	0.743	0.74553	0.306	0.87652	D	0.617	0.86477	D	10	0.05425027	0.05747	T	0.110513	0.78793	D	0.808	0.93777	.	.	0.582891127894	0.57961	0.8854098038142626	0.88509	0.770705930777	0.64745	0.513011574745	0.40643	T	0.459035	0.79678	T	0.000505471	0.51724	T	0.230007	0.84671	D	0.150541850771554	0.17146	T	0.90091	0.66280	D	0.7080513	0.78500	0.7293203	0.84007	0.7080513	0.78502	0.7293203	0.84008	-8.489	0.64357	D	.	.	0.432	0.61290	A	.;.;.;.	.;.;.;.	4.309455	0.65871	24.9	0.9989464833657733	0.96819	0.93542	0.58501	D	AEFDBI	0.488743	0.52694	N	0.448338967531989	0.64109	4.658205	0.386972193398403	0.60762	4.267418	0.116050146663118	0.16769	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	4.27	0.50009	1.314000	0.33202	2.576000	0.33390	0.598000	0.34611	0.950000	0.33075	0.990000	0.31317	0.259000	0.23493	0.1606:0.8394:0.0:0.0	13.209	0.59240	894	0.26265	.;.;.;.	.	.	.	.	.	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.07895	3867.77	86	chr19	35668637	.	C	T	3867.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.28;DP=773;ExcessHet=0;FS=1.753;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=-2.353;SOR=0.534	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1101,0,678	17	1	1	0
chr19	36638679	36638681	GGA	-	exonic	ZNF461	.	nonframeshift deletion	ZNF461:NM_001297623:exon5:c.1595_1597del:p.L532del,ZNF461:NM_001322826:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322827:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322821:exon6:c.1646_1648del:p.L549del,ZNF461:NM_001322823:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322825:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322828:exon6:c.1400_1402del:p.L467del,ZNF461:NM_153257:exon6:c.1664_1666del:p.L555del	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0155751	0.0127	0.0023	0.0961	0.0246	0	0.0002	0.0129	0.0159	0.0028047	73	26028	rs200326538	0.0035	0.0035	0.0036	0.0034	0.0687	0.0034	0.0034	0.0667	0.0658	0.0008	0.0687	0	0.0150	0	0.0003	4.233e-05	0.0050	0.0125	0.0055	0.0055	0.0045	0.0064	0.0368	0.0051	0.0050	0.0343	0.0333	0.0017	0	0.0368	0	0.0204	0	0	0.0001	0.0043	0.0157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005056	0.010101	0.000000	0.002924	0.000000	0.000000	0.003106	0.011364	0.05263	3180.79	33	chr19	36638678	.	GGGA	G	3180.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.034;DP=734;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=-0.272;SOR=0.637	GT:AD:DP:GQ:PL	0/1:33,53:86:99:2117,0,1214	17	0	2	0
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|1:72,30:102:99:0|1:37887093_A_G:471,0,2114:37887093	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|1:71,30:101:99:0|1:37887093_A_G:474,0,2081:37887093	4	0	11	4
chr19	38893508	38893508	T	A	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon3:c.A21T:p.L7F,SIRT2:NM_030593:exon3:c.A21T:p.L7F,SIRT2:NM_012237:exon4:c.A132T:p.L44F	.	419	1089	12	2	0	16	0.00729262	.	.	.	704969	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0110	0.0107827	0.0077	0.0190	0.0032	0.0020	0.0007	0.0086	0.0071	0.0060	0.0075031	1160	154602	rs45535036	0.0078	0.0079	0.0079	0.0077	0.0173	0.0077	0.0077	0.0162	0.0157	0.0173	0.0036	0	0.0018	0.0015	0.0040	0.0086	0.0078	0.0056	0.0096	0.0096	0.0101	0.0091	0.0170	0.0092	0.0090	0.0160	0.0156	0.0170	0	0.0053	0	0.0031	0.0013	0.0034	0.0088	0.0085	0.0054	0.627	0.06502	T	0.589	0.08245	T	0.001	0.07471	B	0.005	0.16862	B	0.628531	0.10709	N	0.826605	0.998119	0.44524	D	0.2	0.09183	N	1.21	0.48769	T	0.57	0.11547	N	0.276	0.31253	-1.0503	0.14313	T	0.030	0.12804	T	10	0.0036471784	0.00067	T	.	.	.	0.161	0.41658	0.391	0.41443	0.139678290688	0.13603	0.40462940314711654	0.40378	0.23887650308	0.26443	0.387695014477	0.23345	T	0.11804	0.43856	T	-0.456061	0.01039	T	-0.413597	0.31810	T	0.00402687135974191	0.00043	T	.	.	.	0.15268978	0.34649	0.09309037	0.21972	0.15268978	0.34648	0.09309037	0.21971	-7.759	0.59416	D	.	.	0.106	0.19478	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.275245	0.29088	18.01	0.9688391060178797	0.31469	0.47111	0.27910	N	AEDBI	0.089627	0.18167	N	-0.900700129620411	0.10825	0.5192742	-0.781154816376222	0.14957	0.7842521	0.997731569887215	0.35965	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.26	0.518	0.16228	-0.022000	0.12424	0.904000	0.22573	-0.132000	0.13132	0.956000	0.33378	1.000000	0.68203	0.949000	0.49496	0.0:0.1369:0.5514:0.3117	8.856	0.34386	645	0.63593	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.010101	0.006793	0.000000	0.000000	0.017241	0.003049	0.007576	0.02632	657.33	34	chr19	38893508	.	T	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.132;DP=670;ExcessHet=0;FS=10.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.67;SOR=0.827	GT:AD:DP:GQ:PL	0/1:24,27:51:99:671,0,588	18	0	1	0
chr19	38910579	38910579	T	G	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.A695C:p.E232A	.	402	1118	2	0	0	2	0.000893655	.	.	.	3021703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0090	0	0	0.0441	0	0	0	0.0126	0.0004204	65	154602	rs369436329	0.0009	0.0008	0.0007	0.0010	0.0135	0.0008	0.0008	0.0125	0.0121	9.878e-05	0.0002	0	0.0135	0.0002	0.0002	0.0002	0.0016	0.0043	0.0008	0.0008	0.0007	0.0009	0.0132	0.0007	0.0006	0.0107	0.0097	9.633e-05	0	0.0001	0	0.0132	0	0	0.0003	0.0014	0.0050	.	.	.	0.125	0.38016	T	.	.	.	.	.	.	.	.	.	.	0.980144	0.25133	N	0.695	0.17993	N	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.0039379	0.00075	T	.	.	.	.	.	.	.	0.322230723748	0.31824	0.11514492099598841	0.11442	0.0176945112124	0.01731	.	.	.	0.064083	0.32344	T	-0.613127	0.00121	T	-0.643103	0.09444	T	.	.	.	.	.	.	0.0306499	0.02766	0.069701955	0.14717	0.0306499	0.02766	0.069701955	0.14717	-4.575	0.31856	T	.	.	0.068	0.07177	B	.;.	.;.	0.606388	0.09749	6.516	0.61663427829490991	0.06766	0.34489	0.25079	N	AEFDGBHCI	0.136259	0.25686	N	.	.	.	.	.	.	0.86039430472344	0.25214	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.86	2.78	0.31702	0.022000	0.13402	-0.627000	0.08144	-0.667000	0.04321	0.142000	0.23535	0.000000	0.08366	0.006000	0.07323	0.0:0.0916:0.1781:0.7304	5.455	0.15880	649	0.63102	.;.	.	.	.	.	.	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	0.002336	0.000000	0.004367	0.000000	0.000000	0.000000	0.003968	0.000000	0.02632	1033.33	40	chr19	38910579	.	T	G	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.227;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-2.94;SOR=0.693	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1047,0,1343	18	0	1	0
chr19	38910612	38910614	TGG	-	exonic	CCER2	.	nonframeshift deletion	CCER2:NM_001243212:exon4:c.660_662del:p.H220del	.	382	1122	17	1	0	19	0.00839593	.	.	.	2951508	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0247	0.0122	0	0.0204	0	0.0234	0.0417	0.0266	0.0003234	50	154602	rs144792695	0.0016	0.0046	0.0014	0.0018	0.0137	0.0016	0.0015	0.0127	0.0123	0.0013	0.0015	0.0011	0.0137	0.0005	0.0030	0.0009	0.0025	0.0059	0.0009	0.0010	0.0009	0.0010	0.0124	0.0008	0.0008	0.0100	0.0091	0.0005	0	0.0001	0	0.0124	0	0	0.0004	0.0024	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066023	0.120879	0.034562	0.037879	0.000000	0.064516	0.063492	0.047619	0.02632	1528.29	40	chr19	38910611	.	CTGG	C	1528.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.438;DP=747;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.552;SOR=0.894	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1542,0,1871	18	0	1	0
chr19	38910746	38910747	TT	-	exonic	CCER2	.	frameshift deletion	CCER2:NM_001243212:exon4:c.527_528del:p.K176Rfs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402091003	9.407e-06	8.893e-06	8.57e-06	1.027e-05	1.206e-05	5.25e-06	4.04e-06	6.73e-06	5.18e-06	0	0	0	0	0	0	1.206e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1433.29	40	chr19	38910745	.	CTT	C	1433.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.204;DP=759;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.002;SOR=0.607	GT:AD:DP:GQ:PL	0/1:71,41:112:99:1447,0,2826	18	0	1	0
chr19	38910796	38910796	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G478A:p.E160K	.	387	1131	3	1	0	5	0.00220556	.	.	.	3021704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0023	0	0.0116	0.0185	0	0	0	0.0029	0.0005563	86	154602	rs371603378	0.0011	0.0011	0.0010	0.0012	0.0131	0.0011	0.0011	0.0121	0.0117	0.0002	8.42e-05	0	0.0131	5.951e-05	0.0012	0.0005	0.0018	0.0048	0.0008	0.0008	0.0008	0.0008	0.0131	0.0007	0.0007	0.0106	0.0097	7.214e-05	0	0.0001	0	0.0131	0	0	0.0003	0.0024	0.0050	.	.	.	0.135	0.44106	T	.	.	.	.	.	.	.	.	.	.	0.999388	0.21275	N	0.695	0.17993	N	.	.	.	.	.	.	0.311	0.35088	.	.	.	.	.	.	.	0.0044845045	0.00092	T	.	.	.	.	.	.	.	0.229924730088	0.22615	0.08604219450467972	0.08538	0.018677436614	0.01818	.	.	.	0.058105	0.30750	T	-0.435584	0.01373	T	-0.388075	0.34777	T	.	.	.	.	.	.	0.10189962	0.24072	0.24983399	0.50562	0.10189962	0.24072	0.24983399	0.50561	-4.149	0.26009	T	.	.	0.131	0.29505	B	.;.	.;.	2.409154	0.30961	18.60	0.88324720811012813	0.17888	0.25204	0.22628	N	AEFDBI	0.178076	0.30533	N	.	.	.	.	.	.	0.978115015617439	0.29888	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.11	0.47350	1.031000	0.29773	1.138000	0.24381	0.597000	0.34315	0.007000	0.17678	0.000000	0.08366	0.065000	0.16320	0.0:0.8401:0.1599:0.0	13.318	0.59855	649	0.63102	.;.	.	.	.	.	.	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	0.002927	0.000000	0.002924	0.000000	0.000000	0.000000	0.006452	0.012821	0.02632	803.33	40	chr19	38910796	.	C	T	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.977;DP=762;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.012;SOR=0.85	GT:AD:DP:GQ:PL	0/1:78,39:117:99:817,0,2022	18	0	1	0
chr19	38911082	38911082	C	G	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G192C:p.E64D	.	423	1094	4	1	0	6	0.00273473	.	.	.	3021705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0	0	.	0	0	0	.	0	0.001921	50	26028	rs375222589	0.0011	0.0010	0.0010	0.0012	0.0130	0.0010	0.0010	0.0120	0.0116	0.0002	0.0002	0	0.0130	3.45e-05	0.0014	0.0005	0.0018	0.0046	0.0008	0.0008	0.0008	0.0008	0.0131	0.0007	0.0007	0.0106	0.0097	7.214e-05	0	0.0001	0	0.0131	0	0	0.0003	0.0024	0.0050	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	0.695	0.17993	N	.	.	.	.	.	.	0.545	0.57177	.	.	.	.	.	.	.	0.0061567724	0.00139	T	.	.	.	.	.	.	.	0.250579442822	0.24687	0.12348689037455093	0.12274	0.0974313828567	0.11002	.	.	.	0.074232	0.34889	T	-0.433619	0.01410	T	-0.385252	0.35108	T	.	.	.	.	.	.	0.07219858	0.16041	0.1392954	0.33241	0.07219858	0.16040	0.1392954	0.33240	-3.746	0.20000	T	.	.	0.495	0.64366	A	.	.	1.893358	0.24047	16.25	0.85266023587497641	0.15786	0.75870	0.37171	D	AEFBI	0.378361	0.46178	N	.	.	.	.	.	.	0.0140278678386402	0.12543	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	2.82	0.32061	0.465000	0.21715	0.242000	0.16320	0.599000	0.40250	0.013000	0.18845	0.984000	0.30665	0.012000	0.09680	0.0:0.8177:0.0:0.1823	8.300	0.31168	649	0.63102	.	.	.	.	.	.	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	641.33	40	chr19	38911082	.	C	G	641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=680;ExcessHet=0;FS=2.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.444;SOR=1.129	GT:AD:DP:GQ:PL	0/1:21,24:45:99:655,0,523	18	0	1	0
chr19	38930478	38930478	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C259T:p.P87S,SARS2:NM_017827:exon1:c.C259T:p.P87S	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0103298220313	.	0.000399361	8.824e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs562251304	2.076e-05	2.121e-05	1.647e-05	2.513e-05	0.0002	1.473e-05	1.278e-05	0.0001	9.472e-05	0	2.262e-05	0	0	0	0	8.167e-06	6.712e-05	0.0002	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.324	0.13392	T	0.452	0.12884	T	0.029	0.19866	B	0.015	0.17295	B	0.025681	0.26048	N	0.388897	.	.	.	2.56	0.74772	M	1.06	0.39781	T	-0.86	0.23372	N	0.19	0.32481	-0.7562	0.57609	T	0.120	0.41929	T	9	0.061112106	0.07613	T	0.01033	0.26741	T	0.101	0.28911	0.265	0.21103	0.553103360211	0.54968	0.3034281365314339	0.30255	0.371908126275	0.38695	0.457498967648	0.32968	T	0.057175	0.30492	T	-0.383663	0.02953	T	-0.478363	0.24620	T	0.0651913909668885	0.07959	T	.	.	.	0.06038551	0.12385	0.083673365	0.19194	0.06038551	0.12384	0.083673365	0.19194	-4.823	0.34858	T	.	.	0.084	0.15385	B	.;.;.	.;.;.	2.545591	0.32935	19.19	0.99315797146368501	0.59166	0.81109	0.40583	D	ALL	0.323352	0.42557	N	0.189477939934372	0.50695	3.257013	0.256707341331622	0.53030	3.474261	1.0	0.98316	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	4.45	0.53365	3.641000	0.54094	5.415000	0.48549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0894:0.0:0.9106:0.0	10.486	0.43909	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr19	38930478	.	G	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.192;DP=702;ExcessHet=0;FS=9.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.171;SOR=2.03	GT:AD:DP:GQ:PL	0/1:33,32:65:99:882,0,853	18	0	1	0
chr19	38932413	38932413	C	G	exonic	MRPS12	.	nonsynonymous SNV	MRPS12:NM_021107:exon2:c.C130G:p.R44G,MRPS12:NM_033362:exon3:c.C130G:p.R44G,MRPS12:NM_033363:exon3:c.C130G:p.R44G	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0002	0.00339457	0.0014	0.0003	0	0.0087	0	6.316e-05	0.0024	0.0052	0.0012936	200	154602	rs147007310	0.0007	0.0007	0.0006	0.0008	0.0127	0.0007	0.0007	0.0118	0.0114	0.0001	4.519e-05	0	0.0127	0	0.0002	0.0001	0.0015	0.0041	0.0007	0.0007	0.0007	0.0008	0.0139	0.0006	0.0006	0.0113	0.0104	0.0001	0	0.0002	0	0.0139	0	0	8.818e-05	0.0014	0.0050	0.032	0.44694	D	0.055	0.46862	T	0.028	0.19712	B	0.044	0.24394	B	0.231514	0.03521	N	1.664740	0.999709	0.20638	N	1.9	0.50570	L	0.86	0.46777	T	-3.64	0.69835	D	0.139	0.13769	-1.0439	0.16148	T	0.090	0.34683	T	10	0.004025489	0.00078	T	.	.	.	0.032	0.07718	.	.	0.406120066682	0.40223	0.26826693982523403	0.26739	0.67907236185	0.59917	0.230556041002	0.02009	T	0.432773	0.78043	T	-0.574626	0.00208	T	-0.587156	0.13912	T	0.0114266748744791	0.00171	T	.	.	.	0.10511352	0.24851	0.09503791	0.22522	0.10511352	0.24851	0.09503791	0.22522	-5.433	0.41236	T	.	.	0.125	0.28406	B	.;.;.	.;.;.	-0.033590	0.04055	0.941	0.95937654274165862	0.28233	0.14971	0.18679	N	AEFBCI	0.268456	0.38495	N	-0.970398466655681	0.09240	0.4364978	-1.01452471046837	0.09466	0.4710707	0.999991777552095	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.93	-2.05	0.06916	-0.851000	0.04421	-1.837000	0.04636	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1103:0.4789:0.1139:0.297	3.255	0.06424	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1767.33	36	chr19	38932413	.	C	G	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=798;ExcessHet=0;FS=11.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.024;SOR=1.259	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1781,0,1743	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	0|1:16,23:39:99:0|1:40667975_C_T:795,0,562:40667975	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	0|1:16,23:39:99:0|1:40667975_C_T:795,0,562:40667975	1	7	11	0
chr19	40876638	40876638	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon7:c.G1039A:p.V347M,CYP2A7:NM_000764:exon8:c.G1192A:p.V398M	.	3	1495	23	1	0	25	0.00829187	.	.	.	2808714	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0211865437845	0.0048	0.000998403	0.0041	0.0007	0.0022	0	0.0024	0.0063	0.0066	0.0017	0.0039262	607	154602	rs138869707	0.0047	0.0047	0.0046	0.0048	0.0054	0.0046	0.0046	0.0050	0.0049	0.0006	0.0030	0.0138	2.519e-05	0.0032	0.0054	0.0051	0.0064	0.0016	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0051	0.0049	0.0008	0	0.0059	0.0130	0	0.0034	0.0137	0.0056	0.0076	0.0008	0.007	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.958	0.71005	D	0.000002	0.62929	U	0.000000	0.874761	0.28148	N	3.3	0.90472	M	-0.39	0.69158	T	-2.37	0.52289	N	0.6	0.61849	-0.5710	0.65975	T	0.297	0.66858	T	10	0.018483907	0.00403	T	0.021187	0.43920	T	0.301	0.62179	.	.	0.621965656393	0.61889	0.3189579386612236	0.31808	0.417512201385	0.42368	0.528957486153	0.42887	T	0.022676	0.17443	T	-0.346878	0.04925	T	-0.2694	0.47879	T	0.0679574926277712	0.08361	T	0.90141	0.65732	D	0.46873435	0.65212	0.5499202	0.73977	0.46873435	0.65213	0.5499202	0.73978	-8.84	0.66661	D	.	.	0.321	0.54558	B	.;.	.;.	3.183702	0.43231	21.7	0.9973877714874223	0.83337	0.63272	0.32038	D	AEFDBCI	0.285685	0.39825	N	-0.0741509742085061	0.38529	2.257997	-0.284548861514484	0.28606	1.596326	0.173969494644633	0.17776	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	2.18	1.03	0.19161	2.273000	0.43041	.	.	0.311000	0.19140	0.436000	0.26456	0.000000	0.08366	0.069000	0.16583	0.0:0.7847:0.2153:0.0	9.675	0.39201	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006342	0.000000	0.006793	0.008197	0.000000	0.008621	0.006098	0.007576	0.02632	952.33	34	chr19	40876638	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-0.37;QD=7.27;ReadPosRankSum=0.461;SOR=0.747	GT:AD:DP:GQ:PL	0/1:82,49:131:99:966,0,1925	18	0	1	0
chr19	41198839	41198839	C	T	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon5:c.C785T:p.S262L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00930629234769	.	.	2.479e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs762923707	6.157e-06	6.156e-06	6.806e-06	5.5e-06	6.708e-05	2.9e-06	2.1e-06	1.779e-05	8.93e-06	0	6.708e-05	0	2.519e-05	0	0	1.799e-06	0	3.478e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.067	0.44302	T	0.026	0.19406	B	0.003	0.08700	B	0.042952	0.23789	U	0.404501	1	0.08975	N	2.105	0.58435	M	4.96	0.01366	T	-4.29	0.76414	D	0.337	0.37820	-0.9803	0.34932	T	0.007	0.02244	T	10	0.092558414	0.16307	T	0.009306	0.24436	T	0.070	0.20419	0.348	0.34436	0.0986583533028	0.09354	0.35475236884514977	0.35389	0.701633187537	0.61175	0.325541615486	0.14260	T	0.073675	0.34754	T	-0.427913	0.01526	T	-0.655473	0.08576	T	0.694483041763306	0.40457	D	0.257074	0.04045	T	0.19623968	0.41443	0.24429405	0.49893	0.19623968	0.41443	0.24429405	0.49892	-5.488	0.41756	T	.	.	0.099	0.16886	B	.	.	2.860317	0.37787	20.6	0.99482738599586806	0.66959	0.21477	0.21415	N	AEFDBI	0.165192	0.29166	N	-0.572786588750708	0.19774	1.037586	-0.61387394104124	0.19137	1.025417	0.647606114686855	0.22125	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.28	2.65	0.30588	2.047000	0.40893	2.058000	0.30379	0.547000	0.25779	0.004000	0.16614	0.006000	0.19429	0.005000	0.06747	0.174:0.718:0.0:0.108	7.122	0.24628	607	0.67291	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1208.33	42	chr19	41198839	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.848;SOR=0.634	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1222,0,1462	18	0	1	0
chr19	41238043	41238043	C	T	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon4:c.C79T:p.R27W,AXL:NM_001699:exon7:c.C883T:p.R295W,AXL:NM_021913:exon7:c.C883T:p.R295W	.	420	1101	1	0	0	1	0.000453926	.	.	.	3050311	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0528420252581	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs751738506	3.078e-05	3.078e-05	3.675e-05	2.475e-05	0.0003	2.347e-05	2.095e-05	6.094e-05	2.522e-05	0	0	0	5.038e-05	0	0.0003	3.507e-05	3.311e-05	0	3.947e-05	3.94e-05	6.429e-05	1.347e-05	8.825e-05	1.717e-05	1.13e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0	0	0.093	0.33585	T	0.06	0.48594	T	0.999	0.77913	D	0.72	0.54860	P	0.195816	0.16727	U	0.538685	0.999979	0.18612	N	2.015	0.55033	M	0.38	0.57575	T	-2.65	0.56787	D	0.541	0.56833	-0.9115	0.46670	T	0.183	0.53087	T	10	0.47480604	0.60079	T	0.052842	0.65233	D	0.329	0.65126	0.599	0.72984	0.434057395736	0.43027	0.5138917788934825	0.51311	0.745944124361	0.63518	0.441844969988	0.30829	T	0.286104	0.65889	T	-0.120491	0.33044	T	-0.303196	0.44388	T	0.840548813343048	0.49372	D	0.925307	0.72522	D	0.23008184	0.45757	0.27239686	0.53149	0.23008184	0.45757	0.27239686	0.53148	-7.678	0.60057	D	.	.	0.081	0.08081	B	.;.;.	.;.;.	3.824268	0.55237	23.6	0.99851131863634857	0.93013	0.66461	0.33086	D	AEFDBI	0.260245	0.37843	N	0.205920852822746	0.51486	3.329403	0.154673186335514	0.47391	2.969964	0.997248475837403	0.35414	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.26	4.26	0.49832	1.160000	0.31372	1.439000	0.26511	0.589000	0.31548	0.099000	0.22773	0.066000	0.22130	0.984000	0.60418	0.2067:0.7932:0.0:0.0	9.722	0.39472	538	0.73119	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	871.33	34	chr19	41238043	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.394;DP=698;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.319;SOR=0.368	GT:AD:DP:GQ:PL	0/1:33,36:69:99:885,0,913	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	0/1:77,13:90:61:.:.:61,0,2829:.	13	0	6	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,18:86:99:.:.:214,0,1374:.	9	0	7	3
chr19	43612755	43612755	G	A	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.G634A:p.V212I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2303859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0021067762805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365285592	7.146e-06	6.84e-06	5.641e-06	8.693e-06	8.341e-06	3.61e-06	2.64e-06	3.92e-06	2.84e-06	0	0	0	0	0	0	8.341e-06	1.724e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.264	0.16358	T	0.744	0.04912	T	0.126	0.26920	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.25	0.11008	N	0.047	0.01911	-1.0051	0.28427	T	0.045	0.19234	T	8	0.06525484	0.08776	T	0.002107	0.03908	T	0.028	0.06331	0.13	0.03494	0.0138822411134	0.00435	0.01961657694332776	0.01915	0.0135147080433	0.01299	0.239569932222	0.02752	T	0.001689	0.01120	T	-0.364612	0.03876	T	-0.74603	0.03643	T	0.0394778784846389	0.03597	T	0.416558	0.10945	T	0.026249595	0.01658	0.038774867	0.03821	0.026249595	0.01657	0.038774867	0.03820	-3.992	0.23683	T	.	.	0.119	0.24498	B	.;.	.;.	0.145831	0.05387	1.868	0.98002782183328685	0.37491	0.02078	0.06183	N	AEFBI	0.029376	0.02760	N	-1.01084302428208	0.08378	0.3926157	-1.04112912292864	0.08893	0.4395232	6.41448329677303E-5	0.04366	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.491896	0.07777	0	.	.	4.38	0.597	0.16685	1.044000	0.29939	.	.	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.4334:0.0:0.5666:0.0	5.810	0.17722	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	34	chr19	43612755	.	G	A	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.991;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.551;SOR=0.681	GT:AD:DP:GQ:PL	0/1:89,95:184:99:2317,0,2231	18	0	1	0
chr19	43613643	43613643	C	G	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1522G:p.Q508E	.	441	1044	36	1	0	38	0.0178739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0028	0.00698882	0.0147	0	0.0105	0.0018	0	0.0036	0.0158	0.0314	0.0024967	386	154602	rs201956919	0.0044	0.0042	0.0034	0.0055	0.0342	0.0043	0.0043	0.0332	0.0327	0.0007	0.0024	0.0041	8.424e-05	0.0002	0.0121	0.0027	0.0050	0.0342	0.0037	0.0048	0.0034	0.0040	0.0336	0.0034	0.0033	0.0291	0.0274	0.0013	0.0231	0.0034	0.0045	0.0007	0.0002	0.0309	0.0035	0.0036	0.0336	1.0	0.00964	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	.	.	.	0.74	0.02038	N	0.02	0.00308	-0.9896	0.32702	T	0.020	0.08266	T	8	0.0035606325	0.00064	T	.	.	.	0.004	0.00165	.	.	.	.	0.003820140044259554	0.00358	0.0132014889306	0.01271	0.201208040118	0.00493	T	5.44E-4	0.00213	T	-0.714455	0.00030	T	-0.775357	0.02596	T	0.000448618851655258	0.00004	T	0.146485	0.01205	T	0.03308003	0.03456	0.038168784	0.03628	0.03308003	0.03455	0.038168784	0.03628	0.626	0.00188	T	.	.	0.066	0.02257	B	.;.	.;.	-2.353351	0.00045	0.001	0.52147503178587262	0.04693	0.00072	0.00504	N	AEFBI	0.014288	0.00221	N	-1.69771834808168	0.00850	0.03676546	-1.7240476626815	0.01035	0.04643669	0.00149454894049602	0.08586	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.31	-5.2	0.02608	-3.864000	0.00391	.	.	-0.691000	0.04129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.146:0.3384:0.2883:0.2272	2.269	0.03837	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	0	0	0	1	0	0	0	0.012626	0.000000	0.000000	0.000000	0.000000	0.000000	0.041667	0.045455	0.02632	7319.33	34	chr19	43613643	.	C	G	7319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=2678;ExcessHet=0;FS=3.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.212;SOR=0.543	GT:AD:DP:GQ:PL	0/1:260,274:534:99:7333,0,6590	18	0	1	0
chr19	43626808	43626808	A	G	exonic	CADM4	.	nonsynonymous SNV	CADM4:NM_145296:exon4:c.T475C:p.Y159H	.	378	1093	48	3	0	54	0.0241071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0048	0.0091853	0.0069	0.0077	0.0026	0.0003	0.0003	0.0032	0.0104	0.0329	0.0061901	957	154602	rs112876885	0.0047	0.0047	0.0037	0.0057	0.0338	0.0046	0.0045	0.0327	0.0323	0.0095	0.0027	0.0040	0.0001	0.0003	0.0138	0.0027	0.0054	0.0338	0.0054	0.0054	0.0052	0.0056	0.0297	0.0051	0.0050	0.0257	0.0242	0.0083	0.0208	0.0036	0.0043	0.0002	9.422e-05	0.0204	0.0033	0.0062	0.0297	0.056	0.38185	T	0.011	0.64786	D	0.001	0.07471	B	0.002	0.06944	B	0.002595	0.36278	N	0.235044	0.606865	0.32586	D	2.58	0.75369	M	-1.14	0.77843	T	-3.09	0.63438	D	0.255	0.28849	-0.5179	0.67993	T	0.289	0.66036	T	10	0.011398047	0.00249	T	.	.	.	0.313	0.63482	.	.	0.710195464035	0.70766	0.7519354844662318	0.75140	2.27231841279	0.96288	0.561181128025	0.47434	T	0.499057	0.82023	T	-0.351502	0.04633	T	-0.254687	0.49352	T	0.0259419428038908	0.01398	T	0.835616	0.50622	T	0.13797368	0.31927	0.17674974	0.40231	0.13797368	0.31927	0.17674974	0.40230	-7.972	0.60879	D	.	.	0.392	0.59143	A	.	.	3.999448	0.58918	24.0	0.99369497534935214	0.61368	0.87655	0.47267	D	AEFDBI	0.337104	0.43501	N	-0.495223544451615	0.22237	1.185929	-0.426924970423787	0.24210	1.324519	0.0138866362619238	0.12523	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.48	3.35	0.37468	1.865000	0.39117	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.7721:0.1484:0.0795:0.0	7.041	0.24198	895	0.25842	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.010101	0.008152	0.002924	0.000000	0.000000	0.021341	0.037879	0.02632	904.33	34	chr19	43626808	.	A	G	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.755;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.362;SOR=0.787	GT:AD:DP:GQ:PL	0/1:33,39:72:99:918,0,796	18	0	1	0
chr19	44010478	44010478	C	T	exonic	ZNF230	.	stopgain	ZNF230:NM_006300:exon5:c.C439T:p.Q147X	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313637	0.84014	D	0.212741	0.83805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.493333	0.48838	22.7	0.99577846795853597	0.72802	0.00036	0.00313	N	AEFDGBHCI	0.040416	0.06008	N	-0.137054092946992	0.35786	2.060065	-0.504021327965227	0.22043	1.195377	0.156901482070991	0.17532	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.55	1.47	0.21832	-0.959000	0.03963	.	.	0.310000	0.19122	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7755:0.2245:0.0:0.0	7.603	0.27255	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	2327.33	33	chr19	44010478	.	C	T	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=851;ExcessHet=0;FS=3.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.836;SOR=0.957	GT:AD:DP:GQ:PL	0/1:117,95:212:99:2341,0,2974	18	0	1	0
chr19	44067099	44067099	-	A	exonic	ZNF223	.	frameshift insertion	ZNF223:NM_013361:exon5:c.1272dupA:p.P427Tfs*5	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0019	0	0.0006	0	0.0002	0.0011	0.0033	0.0088	0.0003842	10	26028	rs562593501	0.0013	0.0013	0.0011	0.0015	0.0098	0.0012	0.0012	0.0092	0.0090	0.0002	0.0008	0	2.52e-05	5.621e-05	0.0064	0.0008	0.0016	0.0098	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0001	0	0.0003	0	0.0004	9.466e-05	0.0034	0.0011	0.0019	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006042	0.000000	0.001359	0.002924	0.000000	0.008621	0.009146	0.022727	0.02632	2014.29	43	chr19	44067099	.	G	GA	2014.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.248;DP=902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.484;SOR=0.738	GT:AD:DP:GQ:PL	0/1:79,83:162:99:2028,0,1948	18	0	1	0
chr19	44177023	44177023	C	A	exonic	ZNF226	.	stopgain	ZNF226:NM_001032372:exon6:c.C1761A:p.Y587X,ZNF226:NM_001032373:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319088:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319090:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319089:exon7:c.C1761A:p.Y587X,ZNF226:NM_016444:exon7:c.C1761A:p.Y587X	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.276e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs773252890	1.095e-05	1.094e-05	1.361e-05	8.251e-06	7.557e-05	6.48e-06	5.24e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	8.993e-06	3.312e-05	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.145468	0.18145	N	0.302118	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.081	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304033	0.83287	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	6.431007	0.95199	34	0.99659070447418741	0.77820	0.53462	0.29377	D	AEFBHCI	0.167759	0.29446	N	0.320127491518489	0.57182	3.884656	0.0769378339956974	0.43391	2.64184	0.00530714648714878	0.10895	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.1	1.91	0.24841	-0.709000	0.05132	.	.	0.581000	0.30040	0.000000	0.06391	.	.	0.971000	0.54645	0.0:0.6864:0.0:0.3136	5.473	0.15975	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1135.33	33	chr19	44177023	.	C	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=746;ExcessHet=0;FS=10.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.009;SOR=1.484	GT:AD:DP:GQ:PL	0/1:70,44:114:99:1149,0,1758	18	0	1	0
chr19	44177069	44177069	A	C	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.A1807C:p.K603Q,ZNF226:NM_001032373:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319088:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319090:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319089:exon7:c.A1807C:p.K603Q,ZNF226:NM_016444:exon7:c.A1807C:p.K603Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	2303868	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00142350609379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442943935	7.525e-06	7.524e-06	8.167e-06	6.875e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	6.632e-06	6.592e-06	1.296e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.854	0.02712	T	0.63	0.07196	T	0.711	0.42090	P	0.355	0.42984	B	0.003807	0.34463	N	0.000000	1	0.08975	N	1.095	0.27400	L	3.18	0.07478	T	-0.06	0.07882	N	0.123	0.12627	-0.9793	0.35162	T	0.010	0.03856	T	10	0.08895987	0.15367	T	0.001424	0.02113	T	0.044	0.11924	0.354	0.35408	0.529460334844	0.52594	0.02611759312173184	0.02562	0.154127611139	0.17397	0.426797986031	0.28771	T	0.005221	0.04667	T	-0.326996	0.06342	T	-0.707484	0.05426	T	0.337149411439896	0.26510	T	0.805919	0.45429	T	0.038310677	0.05080	0.024785997	0.00505	0.038310677	0.05079	0.024785997	0.00504	-3.43	0.15463	T	.	.	0.214	0.45261	B	.;.;.	.;.;.	0.596223	0.09647	6.419	0.52321810766827459	0.04726	0.17398	0.19820	N	AEBHCI	0.131769	0.25083	N	-0.424884064978396	0.24600	1.329412	-0.388040239246616	0.25352	1.393707	0.0131223105918784	0.12420	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	3.89	2.83	0.32150	-0.045000	0.11957	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.6501:0.2334:0.1165:0.0	3.943	0.08831	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	33	chr19	44177069	.	A	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=757;ExcessHet=0;FS=6.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.154;SOR=1.272	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1291,0,1974	18	0	1	0
chr19	45804737	45804737	C	T	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon3:c.G1168A:p.E390K	.	258	1258	6	0	0	6	0.00237906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.006841716004	.	0.000399361	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs143615549	7.393e-05	7.388e-05	6.675e-05	8.119e-05	0.0017	6.252e-05	5.811e-05	0.0009	0.0007	0	0	0	0	0	0.0017	5.758e-05	8.285e-05	0.0003	6.569e-05	6.562e-05	7.713e-05	5.374e-05	0.0001	3.516e-05	2.616e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0.0102	0.0001	0	0	0.133	0.26409	T	0.224	0.39040	T	0.945	0.53279	P	0.821	0.59116	P	0.097437	0.20027	N	0.503818	0.993778	0.42049	D	2.265	0.64440	M	2.27	0.17431	T	-2.42	0.53096	N	0.195	0.31027	-1.1170	0.02531	T	0.072	0.29387	T	10	0.08978012	0.15582	T	0.006842	0.18093	T	0.165	0.42395	.	.	0.126345400529	0.12197	0.3508631532920222	0.35000	0.163228410601	0.18421	0.378329992294	0.22019	T	0.034309	0.23270	T	-0.361315	0.04057	T	-0.477346	0.24729	T	0.265101373195648	0.23537	T	0.712529	0.40460	T	0.22602035	0.45274	0.20944598	0.45289	0.22602035	0.45274	0.20944598	0.45288	-5.746	0.44101	T	.	.	0.120	0.28492	B	.;.;.	.;.;.	3.769660	0.54139	23.4	0.99901287483541212	0.97275	0.98027	0.78987	D	AEFBI	0.629589	0.61125	D	0.295258906284623	0.55908	3.754925	0.252999491050707	0.52819	3.454331	0.999788694899179	0.43007	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.99	3.99	0.45527	3.445000	0.52685	4.752000	0.44665	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	14.434	0.66845	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	34	chr19	45804737	.	C	T	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.937;DP=802;ExcessHet=0;FS=2.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.316;SOR=0.689	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2127,0,2029	18	0	1	0
chr19	45852332	45852332	G	C	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon5:c.C279G:p.I93M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0305377023431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.031	0.63918	D	0.989	0.62824	D	0.625	0.51564	P	0.000002	0.62929	D	0.057448	0.991759	0.41466	D	2.295	0.65404	M	1.36	0.89627	T	-1.58	0.38151	N	0.789	0.78546	-1.0284	0.20973	T	0.094	0.35551	T	10	0.33046818	0.50285	T	0.030538	0.52827	D	0.257	0.56827	0.54	0.65161	0.664836760558	0.66201	0.44212893527622066	0.44129	1.50845117476	0.87186	0.686780571938	0.65243	T	0.204559	0.75297	T	0.165235	0.70684	D	-0.000427302	0.70309	D	0.964954912662506	0.67117	D	0.970503	0.90741	D	0.4525708	0.64203	0.19533013	0.43205	0.4525708	0.64204	0.19533013	0.43204	-4.785	0.34416	T	.	.	0.402	0.59705	A	.;.;.;.;.;.	.;.;.;.;.;.	2.871532	0.37970	20.6	0.99198415858568068	0.55201	0.61706	0.31563	D	AEFDBIJ	0.211029	0.33686	N	-0.191437389335808	0.33489	1.90058	-0.271775508541986	0.29031	1.623357	0.960263184801046	0.28478	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.81	-1.44	0.08391	-0.176000	0.09802	-0.499000	0.08813	-0.718000	0.03832	0.589000	0.27658	0.001000	0.17328	0.991000	0.66497	0.5361:0.0:0.3233:0.1406	5.267	0.14916	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr19	45852332	.	G	C	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.97;DP=702;ExcessHet=0;FS=2.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.212;SOR=1.046	GT:AD:DP:GQ:PL	0/1:52,35:87:99:1018,0,1259	18	0	1	0
chr19	47544976	47544976	T	G	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon5:c.A1553C:p.E518A	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0193531403373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265809200	7.975e-06	7.524e-06	4.293e-06	1.176e-05	0.0004	4.28e-06	3.13e-06	6.212e-05	2.566e-05	0	0	0	0	0	0.0004	1.857e-06	5.203e-05	5.069e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.279	0.21745	T	0.057	0.22878	B	0.025	0.20508	B	.	.	.	.	0.999999	0.08975	N	1.995	0.54099	M	1.81	0.26301	T	-1.5	0.37375	N	0.136	0.15469	-1.0341	0.19141	T	0.082	0.32148	T	9	0.17844114	0.32929	T	0.019353	0.41689	T	0.052	0.14661	0.131	0.03577	0.353974658523	0.35008	0.11465781196495228	0.11393	.	.	0.432195425034	0.29508	T	0.006699	0.06126	T	-0.284107	0.10238	T	-0.515426	0.20759	T	0.417541742324829	0.29600	T	0.758124	0.38180	T	0.09467604	0.22265	0.1939742	0.42995	0.09467604	0.22265	0.1939742	0.42994	-2.343	0.04795	T	.	.	0.127	0.35204	B	.;.	.;.	2.431705	0.31284	18.69	0.98650011220167377	0.44178	0.66861	0.33226	D	AEFDBI	0.106653	0.21274	N	-0.103884494866641	0.37223	2.162555	-0.0915581611868026	0.35738	2.071178	0.0598962682103338	0.15178	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	3.004000	0.49200	4.642000	0.44159	0.665000	0.62972	0.692000	0.28550	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.1864:0.8136	9.004	0.35264	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	854.33	34	chr19	47544976	.	T	G	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.945;SOR=0.793	GT:AD:DP:GQ:PL	0/1:33,35:68:99:868,0,861	18	0	1	0
chr19	49659641	49659641	C	T	exonic	IRF3	.	nonsynonymous SNV	IRF3:NM_001197122:exon8:c.G1307A:p.R436H	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0166855437334	0.0002	.	0.0008	0	0	0.0010	0.0078	0.0006	0.0018	8.573e-05	0.0003752	58	154602	rs199920869	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	2.994e-05	2.277e-05	0.0018	0.0005	0.0032	0.0019	0.0001	0.0002	0.0002	0.0006	0.0006	0.0003	0.0009	0.0006	0.0005	0.0004	0.0002	8.992e-05	2.415e-05	0	0	0.0026	0	0.0059	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-4.48	0.98279	D	.	.	.	0.061	0.03726	.	.	.	.	.	.	.	0.006164372	0.00139	T	0.016686	0.38065	T	.	.	.	.	0.955589340873	0.95511	0.11601073347476552	0.11529	0.888446336127	0.70112	0.191496536136	0.00252	T	0.005986	0.05431	T	-0.267066	0.12086	T	-0.287248	0.46058	T	.	.	.	0.427157	0.15447	T	.	.	.	.	.	.	.	.	-4.0	0.23804	T	.	.	0.084	0.24294	B	.;.;.	.;.;.	-0.465392	0.01980	0.173	0.20207654407800232	0.00716	0.09748	0.15434	N	AEFDBHCI	0.060135	0.11406	N	.	.	.	.	.	.	0.966113618768677	0.28880	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	0.99	-1.98	0.07070	-1.544000	0.02296	-3.397000	0.02818	-3.010000	0.00140	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3056:0.2369:0.4575	2.995	0.05630	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.001359	0.000000	0.000000	0.000000	0.006173	0.007576	0.02632	1628.33	33	chr19	49659641	.	C	T	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.601;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.011;SOR=0.711	GT:AD:DP:GQ:PL	0/1:50,68:118:99:1642,0,1140	18	0	1	0
chr19	49669033	49669033	G	T	exonic	BCL2L12	.	nonsynonymous SNV	BCL2L12:NM_001040668:exon5:c.G596T:p.G199V,BCL2L12:NM_001282516:exon5:c.G599T:p.G200V,BCL2L12:NM_001282519:exon5:c.G599T:p.G200V,BCL2L12:NM_001385706:exon5:c.G344T:p.G115V,BCL2L12:NM_138639:exon5:c.G347T:p.G116V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0244307261285	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259228867	9.578e-06	9.577e-06	9.529e-06	9.627e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.42199	D	0.009	0.70582	D	0.981	0.59675	D	0.85	0.60657	P	0.009694	0.30245	N	0.155857	0.999973	0.81001	D	0.895	0.22405	L	0.57	0.54347	T	-3.07	0.64939	D	0.331	0.41656	-0.9435	0.42057	T	0.156	0.48738	T	10	0.19170663	0.34868	T	0.024431	0.47418	T	0.120	0.33359	0.201	0.11522	0.631724915229	0.62871	0.3864612360665706	0.38561	0.806452370599	0.66494	0.535750865936	0.43846	T	0.325776	0.69646	T	-0.143327	0.29361	T	-0.443656	0.28400	T	0.887539207935333	0.53804	D	0.841716	0.51747	T	0.106889375	0.25275	0.15267672	0.35910	0.106889375	0.25275	0.15267672	0.35909	-4.099	0.25275	T	.	.	0.121	0.45507	B	.;.;.;.;.	.;.;.;.;.	2.708382	0.35391	19.89	0.99610769875873262	0.74813	0.67369	0.33408	D	AEFBHI	0.181956	0.30927	N	0.130136211078959	0.47873	3.006993	0.0945653972143269	0.44275	2.712415	0.111627742430875	0.16663	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	1.72	0.23498	1.713000	0.37570	3.588000	0.39180	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.706000	0.34326	0.3074:0.0:0.6926:0.0	7.296	0.25566	788	0.46569	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2356.33	33	chr19	49669033	.	G	T	2356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.297;DP=821;ExcessHet=0;FS=4.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.728;SOR=0.943	GT:AD:DP:GQ:PL	0/1:110,96:206:99:2370,0,2704	18	0	1	0
chr19	49809255	49809255	G	A	exonic	FUZ	.	nonsynonymous SNV	FUZ:NM_001171937:exon6:c.C586T:p.P196S,FUZ:NM_001352262:exon7:c.C694T:p.P232S,FUZ:NM_001363663:exon7:c.C544T:p.P182S,FUZ:NM_025129:exon7:c.C694T:p.P232S	Neural tube defects, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2393916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.155198009031	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	2.59e-05	4	154602	rs552515373	2.931e-05	2.873e-05	2.963e-05	2.899e-05	3.244e-05	2.181e-05	1.963e-05	2.355e-05	2.084e-05	0	2.801e-05	0	0	0	0	3.244e-05	6.898e-05	1.262e-05	1.971e-05	1.969e-05	1.285e-05	2.687e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.024	0.47745	D	0.039	0.55759	D	0.944	0.60733	P	0.651	0.58350	P	0.000246	0.46924	D	0.185646	0.507143	0.81001	D	2.395	0.69210	M	2.09	0.20122	T	-3.09	0.63438	D	0.577	0.59901	-0.8727	0.50326	T	0.095	0.35844	T	10	0.35309577	0.52123	T	0.155198	0.83618	D	0.177	0.44549	0.386	0.40624	0.359357374593	0.35551	0.7453537287127694	0.74481	0.584187970407	0.54108	0.671582460403	0.63064	T	0.688233	0.90911	D	-0.0528381	0.44014	T	-0.185896	0.55973	T	0.942375242710114	0.61651	D	0.852015	0.55989	D	0.20681438	0.42868	0.15225944	0.35831	0.20681438	0.42868	0.15225944	0.35830	-7.938	0.67426	D	.	.	0.572	0.69041	P	.;.;.	.;.;.	4.818238	0.78455	26.9	0.99865940338549097	0.94366	0.54336	0.29591	D	AEFDGBHCI	0.463357	0.51231	N	0.532375516497929	0.69015	5.297528	0.504997697633741	0.68326	5.204665	0.999999975615576	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	4.99	3.95	0.44952	4.726000	0.61680	11.412000	0.92693	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0972:0.0:0.9028:0.0	9.940	0.40745	625	0.65529	.;.;.	.	.	.	.	.	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	823.33	36	chr19	49809255	.	G	A	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=717;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.081;SOR=0.941	GT:AD:DP:GQ:PL	0/1:53,38:91:99:837,0,1270	18	0	1	0
chr19	51079638	51079638	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C277T:p.R93C,KLK14:NM_001311182:exon5:c.C277T:p.R93C,KLK14:NM_022046:exon5:c.C277T:p.R93C	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	.	0.0071	0.00838658	0.0072	0.0246	0.0086	0	0.0025	0.0058	0.0115	0.0062	0.0043014	665	154602	rs112145183	0.0029	0.0030	0.0028	0.0031	0.0190	0.0029	0.0028	0.0178	0.0173	0.0190	0.0043	0.0032	5.088e-05	0.0020	0.0063	0.0023	0.0049	0.0044	0.0074	0.0074	0.0076	0.0072	0.0171	0.0070	0.0069	0.0160	0.0156	0.0171	0	0.0049	0.0035	0	0.0013	0.0137	0.0040	0.0095	0.0027	0.026	0.46910	D	0.043	0.49942	D	0.999	0.77913	D	0.93	0.66466	D	.	.	.	.	0.642493	0.32889	D	1.54	0.38927	L	-2.44	0.88767	D	-3.59	0.69236	D	0.268	0.30347	-0.0050	0.82153	T	0.368	0.72826	T	9	0.01293987	0.00276	T	.	.	.	0.422	0.73078	.	.	0.902430433393	0.90145	0.7780944457754915	0.77759	0.689168275035	0.60470	0.391560435295	0.23890	T	0.533063	0.83876	D	-0.381316	0.03057	T	-0.305574	0.44132	T	0.0382964345424098	0.03384	T	0.708829	0.31953	T	0.35127887	0.57166	0.32171455	0.58117	0.35127887	0.57166	0.32171455	0.58116	-9.514	0.70946	D	.	.	0.689	0.72503	P	.;.;.	.;.;.	4.780459	0.77484	26.7	0.99889421025040326	0.96359	0.09365	0.15136	N	AEFDBCI	0.086503	0.17538	N	0.104245408592214	0.46660	2.903034	-0.0434936137331627	0.37772	2.216228	6.39416331259149E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.04	0.235	0.14697	-0.255000	0.08789	.	.	0.616000	0.49467	0.000000	0.06391	0.966000	0.29516	0.951000	0.49849	0.1652:0.1632:0.3398:0.3319	1.055	0.01489	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021191	0.061224	0.027174	0.002924	0.000000	0.025862	0.003049	0.003788	0.02632	887.33	38	chr19	51079638	.	G	A	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-1.595;SOR=0.676	GT:AD:DP:GQ:PL	0/1:46,41:87:99:901,0,1099	18	0	1	0
chr19	54110113	54110113	C	A	exonic	TFPT	.	nonsynonymous SNV	TFPT:NM_001321792:exon3:c.G264T:p.E88D,TFPT:NM_013342:exon3:c.G291T:p.E97D	.	425	1095	1	1	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0105274430903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.029	0.54934	D	0.449	0.36046	B	0.107	0.31211	B	0.000015	0.62929	D	0.066116	0.991445	0.41390	D	2.045	0.56016	M	.	.	.	-2.22	0.51968	N	0.739	0.75466	-0.7641	0.57182	T	0.176	0.52021	T	9	0.5380887	0.63562	D	0.010527	0.27174	T	0.500	0.78350	0.227	0.15257	0.477451190609	0.47374	0.3989632008489127	0.39811	0.11825938987	0.13311	0.881201386452	0.94122	D	0.385167	0.74663	T	0.199412	0.73837	D	0.0486651	0.73496	D	0.812300264835358	0.47211	D	0.839616	0.53499	T	0.22584744	0.45254	0.21814546	0.46507	0.22584744	0.45254	0.21814546	0.46506	-7.117	0.56053	T	.	.	0.933	0.85360	P	.;.;.	.;.;.	3.255303	0.44492	21.9	0.99604103539606059	0.74397	0.84778	0.43867	D	AEFBCI	0.418422	0.48606	N	0.031851573189246	0.43307	2.626307	0.0809927059105187	0.43594	2.657882	0.997980559126403	0.36275	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.54	3.5	0.39181	2.705000	0.46795	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.912:0.0:0.088	11.892	0.51913	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	1005.33	41	chr19	54110113	.	C	A	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.133;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.863;SOR=0.74	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1019,0,1238	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:489,176:665:99:3242,0,13566	8	0	11	0
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D	.	472	988	53	9	0	71	0.0346849	.	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	196.84	76	chr19	54752248	.	A	G	196.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=898;ExcessHet=0.119;FS=12.7;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=39.49;MQRankSum=-1.282;QD=28.12;ReadPosRankSum=-1.282;SOR=3.912	GT:AD:DP:GQ:PL	0/1:2,5:7:69:188,0,69	17	0	2	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	1/1:1,119:120:99:3282,320,0	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	1/1:1,120:121:99:3219,317,0	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,117:118:99:1|1:54752445_C_T:5209,310,0:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,83:83:99:1|1:54752482_T_C:3665,250,0:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:54752511_G_A:2061,147,0:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,37:195:99:0|1:54760643_A_G:1078,0,6355:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,41:207:99:0|1:54760643_A_G:1222,0,6827:54760643	10	0	9	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,46:207:99:0|1:54760643_A_G:1447,0,6622:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,46:196:99:0|1:54760643_A_G:1480,0,6160:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,46:176:99:0|1:54760643_A_G:1540,0,5300:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,46:176:99:0|1:54760643_A_G:1540,0,5300:54760643	10	0	9	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	130.33	627	chr19	54767322	.	C	T	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=3529;ExcessHet=0;FS=5.732;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=58.51;MQRankSum=-13.16;QD=0.42;ReadPosRankSum=-1.57;SOR=1.301	GT:AD:DP:GQ:PL	0/1:287,24:311:99:144,0,11899	18	0	1	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-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	.	.	.	.	.	.	.	.	0.07895	256.27	627	chr19	54767339	.	G	A	256.27	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.602;DP=4070;ExcessHet=0.3672;FS=4.083;InbreedingCoeff=-0.0841;MLEAC=3;MLEAF=0.079;MQ=58.47;MQRankSum=-16.78;QD=0.23;ReadPosRankSum=-0.476;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,25:294:99:0|1:54767339_G_A:227,0,11127:54767339	16	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	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	.	.	.	.	.	.	.	.	0.07895	286.8	627	chr19	54767342	.	T	C	286.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.588;DP=4068;ExcessHet=0.3672;FS=2.365;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=58.46;MQRankSum=-16.82;QD=0.25;ReadPosRankSum=0.347;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,24:296:99:0|1:54767339_G_A:189,0,11311:54767339	16	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	184.8	627	chr19	54767348	.	TC	T	184.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.158;DP=4053;ExcessHet=0.119;FS=2.377;InbreedingCoeff=-0.0447;MLEAC=1;MLEAF=0.026;MQ=58.53;MQRankSum=-16.73;QD=0.23;ReadPosRankSum=1.19;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,24:293:99:0|1:54767339_G_A:198,0,11223:54767339	17	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	265.17	627	chr19	54767351	.	AAAG	A	265.17	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.884;DP=4058;ExcessHet=0.119;FS=1.055;InbreedingCoeff=-0.0655;MLEAC=2;MLEAF=0.053;MQ=58.48;MQRankSum=-16.72;QD=0.57;ReadPosRankSum=1.62;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,25:292:99:0|1:54767339_G_A:231,0,11127:54767339	17	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	61238.5	606	chr19	54767353	.	A	*	61238.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=4856;ExcessHet=0.0068;FS=0;InbreedingCoeff=0.4797;MLEAC=2;MLEAF=0.053;MQ=59.21;MQRankSum=0;QD=17.68;ReadPosRankSum=0.973;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,25:284:99:.:.:7792,7430,10875:.	17	0	2	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I,KIR2DL1:NM_014218:exon1:c.G16A:p.V6I	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	820.92	254	chr19	54769866	.	G	A	820.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.87;DP=3217;ExcessHet=0.3672;FS=5.699;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=55.49;MQRankSum=-5.542;QD=1.04;ReadPosRankSum=-4.121;SOR=1.449	GT:AD:DP:GQ:PL	0/1:231,32:263:99:331,0,8099	15	0	3	1
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	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	11554.4	606	chr19	54773464	.	G	C	11554.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.09;DP=5593;ExcessHet=1.3;FS=3.783;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.56;MQRankSum=-17.89;QD=3.48;ReadPosRankSum=-1.139;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:457,77:534:99:.:.:1283,0,17922:.	14	0	5	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	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	19496.4	634	chr19	54773510	.	C	G	19496.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.64;DP=6108;ExcessHet=1.3;FS=2.296;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.51;MQRankSum=-21.25;QD=5.16;ReadPosRankSum=3.43;SOR=0.964	GT:AD:DP:GQ:PL	0/1:487,112:599:99:3204,0,13693	14	0	5	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,37:489:99:0|1:54775425_A_G:193,0,18868:54775425	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:449,40:489:99:0|1:54775425_A_G:308,0,18704:54775425	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:451,44:495:99:0|1:54775425_A_G:405,0,18755:54775425	12	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,26:271:99:0|1:54805010_A_G:354,0,10203:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,26:270:99:0|1:54805010_A_G:357,0,10164:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,37:277:99:0|1:54805010_A_G:782,0,9966:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,45:281:99:0|1:54805010_A_G:1057,0,9498:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,80:281:99:.:.:2192,0,5015:.	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,51:348:99:0|1:54805940_TCTC_T:1247,0,12317:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,53:356:99:0|1:54805940_TCTC_T:1313,0,12563:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,78:414:99:0|1:54805940_TCTC_T:2264,0,13874:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,92:446:99:0|1:54805940_TCTC_T:2757,0,14528:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,115:511:99:0|1:54806034_C_A:3627,0,16169:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,115:514:99:0|1:54806034_C_A:3618,0,16295:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,108:508:99:0|1:54806034_C_A:3331,0,16069:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,101:484:99:0|1:54806072_GGA_G:3067,0,15740:54806072	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,104:487:99:0|1:54806072_GGA_G:3193,0,15731:54806072	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:356,104:460:99:.:.:3029,0,9732:.	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,92:416:99:.:.:2793,0,8884:.	10	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,27:288:99:0|1:54806161_A_G:348,0,10721:54806161	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,28:286:99:0|1:54806161_A_G:399,0,10593:54806161	13	0	6	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2223.93	47	chr19	54806184	.	T	C	2223.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=6.11;DP=3906;ExcessHet=0.7564;FS=12.693;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.1;MQRankSum=-17.6;QD=1.71;ReadPosRankSum=0.112;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,31:280:99:0|1:54806184_T_C:552,0,10246:54806184	14	0	4	1
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2514.93	47	chr19	54806191	.	G	A	2514.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.393;DP=3918;ExcessHet=0.7564;FS=14.521;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.01;MQRankSum=-17.76;QD=1.9;ReadPosRankSum=-2.092;SOR=2.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,33:285:99:0|1:54806184_T_C:627,0,10476:54806184	14	0	4	1
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,94:406:99:0|1:54808838_C_T:3008,0,12797:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,103:439:99:0|1:54808838_C_T:3293,0,13737:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,103:435:99:0|1:54808838_C_T:3305,0,13569:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:336,112:448:99:3451,0,8476	10	0	9	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3464.37	500	chr19	54830166	.	G	C	3464.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.189;DP=4368;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.27;MQRankSum=-17.81;QD=2.01;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,41:320:99:0|1:54830134_C_T:882,0,11592:54830134	14	0	5	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3568.37	500	chr19	54830177	.	C	T	3568.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.692;DP=4402;ExcessHet=1.3;FS=0.852;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.17;QD=2.02;ReadPosRankSum=1.52;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,42:333:99:0|1:54830134_C_T:888,0,12093:54830134	14	0	5	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3559.37	500	chr19	54830178	.	G	C	3559.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.441;DP=4405;ExcessHet=1.3;FS=0.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.06;QD=2.02;ReadPosRankSum=1.69;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,42:334:99:0|1:54830134_C_T:885,0,12135:54830134	14	0	5	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4015.37	500	chr19	54830217	.	T	C	4015.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.427;DP=4403;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.23;MQRankSum=-17.99;QD=2.27;ReadPosRankSum=4.03;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,44:327:99:0|1:54830134_C_T:996,0,11751:54830134	14	0	5	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4012.37	500	chr19	54830219	.	T	A	4012.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.661;DP=4404;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.26;MQRankSum=-18.05;QD=2.27;ReadPosRankSum=3.57;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,44:329:99:0|1:54830134_C_T:990,0,11835:54830134	14	0	5	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3932.37	500	chr19	54830226	.	C	T	3932.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.664;DP=4371;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.38;MQRankSum=-18.39;QD=2.27;ReadPosRankSum=2.58;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,42:332:99:0|1:54830134_C_T:891,0,12051:54830134	14	0	5	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3561.33	500	chr19	54830252	.	TC	T	3561.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.511;DP=4224;ExcessHet=1.3;FS=0.843;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.3;MQRankSum=-15.73;QD=2.24;ReadPosRankSum=-1.435;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,36:305:99:0|1:54830134_C_T:702,0,11187:54830134	14	0	5	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3423.33	500	chr19	54830255	.	AAAG	A	3423.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.433;DP=4210;ExcessHet=1.3;FS=0.838;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.32;MQRankSum=-15.59;QD=2.18;ReadPosRankSum=-1.73;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,36:301:99:0|1:54830134_C_T:714,0,11019:54830134	14	0	5	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,73:379:99:0|1:54855608_TCTC_T:2144,0,12629:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,72:389:99:0|1:54855608_TCTC_T:2069,0,13020:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,39:411:99:0|1:54855666_CAG_C:517,0,15422:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,39:411:99:0|1:54855666_CAG_C:517,0,15422:54855666	13	0	6	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	.	.	.	.	.	.	.	.	0.1053	2293.43	58	chr19	54859084	.	C	T	2293.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.757;DP=2389;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=43.1;MQRankSum=-6.226;QD=1.28;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/1:482,45:527:99:445,0,11911	15	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2124.39	58	chr19	54859096	.	TGG	T	2124.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.89;DP=2420;ExcessHet=0.7564;FS=0.938;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.24;MQRankSum=-5.586;QD=1.17;ReadPosRankSum=0.893;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,45:526:99:0|1:54859096_TGG_T:442,0,20012:54859096	15	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2020.39	58	chr19	54859099	.	C	CAT	2020.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.825;DP=2401;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.16;MQRankSum=-5.525;QD=1.12;ReadPosRankSum=1.1;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:481,45:526:99:0|1:54859096_TGG_T:442,0,20012:54859096	15	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	.	.	.	.	.	.	.	.	0.1053	2183.43	58	chr19	54859126	.	T	A	2183.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.938;DP=2289;ExcessHet=0.7564;FS=0.941;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=41.24;MQRankSum=-4.282;QD=1.3;ReadPosRankSum=4.53;SOR=0.558	GT:AD:DP:GQ:PL	0/1:437,43:480:99:497,0,10863	15	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,81:265:99:0|1:54865794_T_C:2847,0,7482:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,78:260:99:0|1:54865794_T_C:2727,0,7407:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,73:251:99:0|1:54865794_T_C:2529,0,7254:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,72:254:99:0|1:54865794_T_C:2475,0,7425:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,66:241:99:0|1:54865794_T_C:2245,0,7150:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,64:240:99:0|1:54865794_T_C:2158,0,7198:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,67:217:99:.:.:2363,0,5453:.	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,55:210:99:0|1:54865794_T_C:1843,0,6338:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,50:203:99:0|1:54865794_T_C:1639,0,6171:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,81:291:99:0|1:54866416_T_C:2769,0,8548:54866416	12	0	7	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	1/1:0,76:76:99:.:.:3361,234,0:.	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	1/1:0,76:76:99:.:.:3361,234,0:.	0	15	4	0
chr19	55483496	55483496	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G2303A:p.G768D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0191081321818	.	.	2.579e-05	0	0	0	0	4.091e-05	0	0	1.29e-05	2	154602	rs753366629	1.655e-05	1.847e-05	1.984e-05	1.316e-05	8.298e-05	1.102e-05	9.21e-06	2.199e-05	1.109e-05	0	8.298e-05	0	0	0	0	1.485e-05	3.491e-05	2.623e-05	6.57e-06	6.567e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.032402	0.25034	U	0.180691	1	0.08975	N	0.895	0.22405	L	2.94	0.09728	T	.	.	.	0.405	0.44570	-1.0127	0.26070	T	0.018	0.07329	T	10	0.110916644	0.20749	T	0.019108	0.41382	T	0.083	0.24192	.	.	0.043077524339	0.03247	0.22889173771808946	0.22804	.	.	0.808003842831	0.83186	D	0.011605	0.10331	T	-0.365156	0.03847	T	-0.571915	0.15275	T	0.0930493995547295	0.11575	T	0.524448	0.17180	T	0.07097352	0.15677	0.103355736	0.24797	0.07097352	0.15676	0.103355736	0.24796	-8.254	0.62788	D	.	.	0.274	0.50736	B	.;.	.;.	1.547268	0.19836	14.46	0.96636554313597056	0.30538	0.08832	0.14702	N	AEFDBCI	0.058417	0.10958	N	-0.491991013730774	0.22343	1.192358	-0.601200907329542	0.19462	1.044291	0.99999999988339	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.36	3.36	0.37579	1.517000	0.35474	2.078000	0.30479	0.588000	0.31329	0.074000	0.22182	0.249000	0.23905	0.003000	0.05239	0.0:0.0:1.0:0.0	10.412	0.43486	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	1027.33	44	chr19	55483496	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.036;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.784;SOR=0.706	GT:AD:DP:GQ:PL	0/1:21,38:59:99:1041,0,570	18	0	1	0
chr19	56824507	56824507	C	T	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001146184:exon3:c.G149A:p.R50Q,PEG3:NM_001369717:exon3:c.G149A:p.R50Q,PEG3:NM_001369718:exon4:c.G149A:p.R50Q,PEG3:NM_001369719:exon4:c.G149A:p.R50Q,PEG3:NM_006210:exon4:c.G149A:p.R50Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00324195194774	7.7e-05	0.00179712	0.0004	9.614e-05	0	0.0038	0	0.0001	0	0.0007	0.000414	64	154602	rs117930727	0.0005	0.0005	0.0005	0.0005	0.0124	0.0004	0.0004	0.0115	0.0111	2.987e-05	2.236e-05	0.0010	0.0124	0	0.0003	7.914e-05	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0080	0.0003	0.0002	0.0060	0.0054	2.408e-05	0	0.0001	0.0009	0.0080	0	0	4.41e-05	0	0.0004	0.073	0.34800	T	0.0	0.92824	D	0.086	0.24919	B	0.017	0.18140	B	0.037504	0.24394	N	0.206490	.	.	.	2.41	0.69639	M	3.18	0.07478	T	-0.77	0.21429	N	0.534	0.56231	-1.0984	0.04290	T	0.022	0.09559	T	9	0.010417908	0.00232	T	0.003242	0.07147	T	0.155	0.40530	.	.	0.641104024009	0.63814	.	.	0.129522306516	0.14600	0.237110957503	0.02536	T	0.213535	0.57488	T	-0.498336	0.00584	T	-0.486959	0.23710	T	0.0323472719023849	0.02362	T	0.610839	0.23175	T	0.14285591	0.32858	0.12095921	0.29188	0.14285591	0.32858	0.12095921	0.29188	-7.305	0.56231	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	3.558013	0.50049	22.9	0.99900515884394492	0.97275	0.61950	0.31635	D	AEFDBCI	0.366525	0.45431	N	-0.0474406697259061	0.39717	2.346671	0.0263103602980623	0.40939	2.451433	0.142707853183081	0.17303	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.88	3.85	0.43556	1.854000	0.39008	.	.	-0.177000	0.10537	0.369000	0.25916	0.796000	0.26906	0.971000	0.54645	0.0:0.9007:0.0:0.0993	9.612	0.38833	975	0.05339	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001037	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3186.83	33	chr19	56824507	.	C	T	3186.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=804;ExcessHet=0.119;FS=1.712;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.078;SOR=0.846	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1237,0,1306	17	0	2	0
chr19	58294362	58294362	G	C	exonic	ZNF8	.	nonsynonymous SNV	ZNF8:NM_021089:exon4:c.G554C:p.S185T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00716021993479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.06186	T	0.118	0.26577	B	0.054	0.25828	B	0.082016	0.20833	N	0.456431	1	0.08975	N	0.975	0.24501	L	.	.	.	.	.	.	0.154	0.15888	-0.9336	0.43605	T	0.014	0.05657	T	10	0.08754313	0.14989	T	0.00716	0.18979	T	.	.	0.247	0.18293	0.143124449307	0.13826	0.12928065376498843	0.12853	.	.	0.259541749954	0.04836	T	0.041698	0.25942	T	-0.287932	0.09845	T	-0.651371	0.08858	T	0.0776549056172371	0.09684	T	0.449655	0.12671	T	0.05498003	0.10625	0.06095951	0.11692	0.05498003	0.10624	0.06095951	0.11692	-4.025	0.24177	T	.	.	0.104	0.18705	B	.	.	0.666635	0.10352	7.079	0.89508718408346843	0.18857	0.09834	0.15499	N	AEFBI	0.036937	0.04999	N	-0.906833771988009	0.10681	0.5116038	-0.9666699878439	0.10539	0.5314258	0.0500486685227052	0.14826	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.54	-1.17	0.09152	0.491000	0.22128	0.659000	0.20486	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.699000	0.34110	0.4491:0.0:0.5509:0.0	8.590	0.32845	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	.	.	.	.	.	.	.	.	0.02632	1923.33	36	chr19	58294362	.	G	C	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.56;SOR=0.662	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1937,0,1779	18	0	1	0
chr20	1318355	1318355	A	G	exonic	SDCBP2	.	nonsynonymous SNV	SDCBP2:NM_001199784:exon4:c.T188C:p.V63A,SDCBP2:NM_080489:exon4:c.T188C:p.V63A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00856641635075	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190885212	2.053e-06	2.052e-06	0	4.127e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.994e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.065	0.44702	T	0.127	0.26966	B	0.04	0.23831	B	0.000001	0.84330	D	0.000000	0.99997	0.53665	D	2.545	0.74286	M	1.47	0.31987	T	-2.84	0.59873	D	0.482	0.53796	-0.8260	0.53556	T	0.181	0.52782	T	10	0.23510003	0.40564	T	0.008566	0.22655	T	0.193	0.47281	0.282	0.23801	0.256283259241	0.25257	0.5550115231885079	0.55428	0.434237229985	0.43548	0.535209298134	0.43768	T	0.155675	0.49750	T	0.0957606	0.63830	D	-0.100223	0.63380	T	0.979119837284088	0.72666	D	0.615039	0.23503	T	0.26633966	0.49704	0.27513888	0.53448	0.26633966	0.49703	0.27513888	0.53447	-3.571	0.17438	T	.	.	0.299	0.54412	B	.;.;.	.;.;.	3.891202	0.56615	23.8	0.99331744411285494	0.59816	0.98691	0.85635	D	AEFBI	0.859341	0.77700	D	0.471834728529764	0.65452	4.82431	0.510005543476538	0.68661	5.251115	0.999999996725993	0.74766	0.615465	0.37627	0	0.624146	0.53433	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.94	4.94	0.64645	6.962000	0.75842	10.853000	0.83948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	10.916	0.46348	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	858.33	33	chr20	1318355	.	A	G	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.463;SOR=0.597	GT:AD:DP:GQ:PL	0/1:38,38:76:99:872,0,958	18	0	1	0
chr20	3230195	3230195	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_001363745:exon12:c.C1367T:p.T456M,SLC4A11:NM_032034:exon12:c.C1529T:p.T510M,SLC4A11:NM_001174089:exon13:c.C1481T:p.T494M,SLC4A11:NM_001174090:exon13:c.C1610T:p.T537M	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2692537	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0222566963398	7.7e-05	.	8.288e-06	0	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs369474430	6.228e-05	6.225e-05	6.673e-05	5.778e-05	0.0021	5.163e-05	4.782e-05	0.0012	0.0009	0	4.472e-05	0	0	3.789e-05	0.0021	6.565e-05	1.656e-05	1.159e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.655	0.20532	T	0.189	0.29442	T	0.047	0.21998	B	0.036	0.22909	B	0.006410	0.32054	N	0.364295	0.966066	0.26770	N	-1.565	0.00454	N	-1.06	0.76819	T	0.22	0.04694	N	0.326	0.37405	-0.9384	0.42869	T	0.187	0.53707	T	10	0.081546366	0.13360	T	0.022257	0.45130	T	0.136	0.36778	.	.	0.690109902506	0.68745	0.5226834551734788	0.52191	0.312276279515	0.33530	0.293511271477	0.09437	T	0.133064	0.46353	T	-0.170854	0.25106	T	-0.37554	0.36242	T	0.0724830814877039	0.08995	T	0.659134	0.31399	T	0.019762639	0.00514	0.040856495	0.04512	0.019762639	0.00513	0.040856495	0.04512	3.853	0.00010	T	0.12874576453410774	0.13370	0.052	0.00436	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.540836	0.19760	14.42	0.34822510656738742	0.02151	0.17652	0.19929	N	AEFBI	0.044270	0.07102	N	-0.770957176341092	0.14071	0.6979948	-0.582953371294263	0.19937	1.071958	0.999671799121811	0.41644	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.21	4.11	0.47350	3.557000	0.53487	2.302000	0.32024	-0.040000	0.17491	0.998000	0.41325	0.993000	0.31925	0.807000	0.38039	0.8521:0.0:0.1479:0.0	9.389	0.37524	458	0.78890	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	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	560.33	34	chr20	3230195	.	G	A	560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=692;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.173;SOR=0.577	GT:AD:DP:GQ:PL	0/1:37,28:65:99:574,0,822	18	0	1	0
chr20	3691963	3691963	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon16:c.G4270A:p.V1424I,SIGLEC1:NM_023068:exon17:c.G4270A:p.V1424I	.	419	1080	21	2	0	25	0.0114416	.	.	.	3886763	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00695892261107	0.0003	0.000599042	0.0015	0	0.0014	0	0.0002	0.0007	0.0012	0.0079	0.001229	190	154602	rs144731228	0.0007	0.0007	0.0005	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.97e-05	0.0009	0.0014	0	5.666e-05	0.0056	0.0003	0.0010	0.0066	0.0005	0.0005	0.0004	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	7.214e-05	0	0.0004	0.0032	0	0	0	0.0005	0.0009	0.0046	0.188	0.21304	T	0.129	0.34837	T	0.461	0.36363	P	0.198	0.36766	B	0.007089	0.31607	N	0.000000	1	0.08975	N	2.445	0.70938	M	-0.84	0.74265	T	-0.59	0.17624	N	0.126	0.11912	-0.9288	0.44313	T	0.237	0.60451	T	10	0.016245484	0.00342	T	0.006959	0.18430	T	0.062	0.17934	.	.	0.515715180578	0.51213	0.2713487320857088	0.27047	0.100562252619	0.11360	0.301368027925	0.10604	T	0.140385	0.47489	T	-0.396801	0.02430	T	-0.339168	0.40438	T	0.0228621694349523	0.01008	T	0.658834	0.26791	T	0.034762133	0.03964	0.06887202	0.14438	0.034762133	0.03964	0.06887202	0.14437	-4.18	0.26461	T	.	.	0.094	0.14293	B	.	.	0.796724	0.11672	8.255	0.98271251921187142	0.39759	0.02123	0.06271	N	AEFDBI	0.078947	0.15938	N	-0.617385350791024	0.18421	0.9562908	-0.64071132920006	0.18452	0.9857397	0.0352354901228305	0.14191	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.61	1.14	0.19817	-0.472000	0.06702	-1.231000	0.05960	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.715000	0.34611	0.0:0.4689:0.3444:0.1867	5.285	0.15004	720	0.55521	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	1275.33	35	chr20	3691963	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.555;SOR=0.679	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1289,0,1071	18	0	1	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	0/1:50,56:106:99:332,0,553	3	0	14	2
chr20	17659162	17659162	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1346A:p.G449D	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	.	.	.	0.0069	0.0024	0.0057	0.0125	0.0109	0.0072	0	0.0064	0.0001153	3	26028	rs78244614	0.0009	0.0025	0.0006	0.0013	0.0018	0.0009	0.0009	0.0014	0.0013	0.0005	0.0015	0.0009	0.0018	0.0022	0.0017	0.0009	0.0008	0.0006	0.0007	0.0023	0.0007	0.0007	0.0013	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0013	0	0.0010	0.0011	0	0.0008	0.0023	0.0003	0.002	0.72154	D	0.073	0.43159	T	.	.	.	.	.	.	0.002516	0.36425	N	0.000000	1	0.08975	N	1.1	0.28011	L	-0.16	0.65378	T	-1.25	0.31576	N	0.556	0.58117	-0.8589	0.51341	T	0.211	0.57161	T	7	0.0057474673	0.00128	T	.	.	.	0.236	0.53931	.	.	0.558889990735	0.55549	.	.	.	.	.	.	.	0.172587	0.52114	T	-0.314382	0.07367	T	-0.280713	0.46730	T	0.0132913322339415	0.00238	T	0.727827	0.34232	T	0.080974296	0.18582	0.14442408	0.34289	0.080974296	0.18581	0.14442408	0.34288	-11.478	0.82215	D	.	.	0.514	0.65230	A	.;.	.;.	2.704687	0.35341	19.87	0.99540405673644428	0.70461	0.13086	0.17655	N	AEFBI	.	.	.	-0.407713224649445	0.25199	1.366131	-0.527968319027065	0.21395	1.157205	0.999877974346672	0.44625	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	3.78	0.42629	-0.722000	0.05061	0.040000	0.13855	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.8111:0.0:0.1889	8.252	0.30895	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	372.14	109	chr20	17659162	.	C	T	372.14	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=2677;ExcessHet=0;FS=10.232;InbreedingCoeff=-0.2505;MLEAC=2;MLEAF=0.167;MQ=51.65;MQRankSum=1.76;QD=4.28;ReadPosRankSum=-3.418;SOR=2.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,16:87:99:0|1:17659162_C_T:377,0,2761:17659162	5	0	1	13
chr20	23749122	23749122	C	G	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon2:c.G236C:p.G79A	.	425	1070	26	0	1	27	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0102	0.00738818	0.0051	0.0220	0.0042	0	0	0.0049	0.0077	0.0005	0.0048059	743	154602	rs112232806	0.0039	0.0039	0.0039	0.0038	0.0290	0.0038	0.0037	0.0254	0.0240	0.0210	0.0053	0.0332	0.0003	9.36e-05	0.0290	0.0028	0.0084	0.0008	0.0088	0.0088	0.0089	0.0086	0.0206	0.0084	0.0082	0.0194	0.0190	0.0206	0	0.0061	0.0349	0.0004	0	0.0170	0.0034	0.0128	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.580686	0.11146	N	0.783801	1	0.08975	N	-2.255	0.00107	N	2.22	0.18248	T	1.8	0.00513	N	0.071	0.04426	-0.9832	0.34258	T	0.003	0.00929	T	10	0.005386919	0.00118	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.10927638088841515	0.10856	0.00328536659782	0.00279	0.500672876835	0.38922	T	0.005064	0.04495	T	-0.776028	0.00012	T	-0.87123	0.00731	T	0.00316472053368909	0.00033	T	0.0925907	0.00686	T	0.05093327	0.09278	0.036334567	0.03060	0.05093327	0.09277	0.036334567	0.03059	-0.572	0.00629	T	.	.	0.073	0.04806	B	.;.	.;.	-1.652648	0.00215	0.003	0.24474587781037138	0.01084	0.00065	0.00468	N	AEFDBHCI	0.009965	0.00064	N	-2.20452520438098	0.00075	0.003204316	-2.16687334230378	0.00133	0.005835719	0.0010579571319597	0.08170	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	1.72	-1.6	0.07977	-0.774000	0.04790	-0.811000	0.07334	-9.448000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1605:0.2346:0.3698:0.2351	0.849	0.01095	964	0.07719	Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin domain;Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	8780.83	39	chr20	23749122	.	C	G	8780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.559;DP=1493;ExcessHet=0.119;FS=1.752;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.2;MQRankSum=-0.363;QD=10.68;ReadPosRankSum=1.28;SOR=0.822	GT:AD:DP:GQ:PL	0/1:219,186:405:99:4251,0,5574	17	0	2	0
chr20	33291016	33291016	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon5:c.G425A:p.R142H	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00736572939817	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0.0034	0.0002	0.000194	30	154602	rs61737874	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0002	0.0003	3.826e-05	2.519e-05	0	0.0026	0.0002	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0	0	0.0034	0.0002	0.0005	0.0006	0.342	0.18889	T	0.478	0.11968	T	0.004	0.12183	B	0.005	0.11217	B	0.568857	0.05468	N	1.270200	1	0.08975	N	0.74	0.18910	N	3.38	0.05778	T	-0.76	0.27259	N	0.099	0.08088	-0.9267	0.44616	T	0.011	0.04181	T	10	0.01861149	0.00406	T	0.007366	0.19550	T	0.063	0.18251	0.494	0.58206	0.0138822411134	0.00435	0.19700788196174335	0.19617	0.209817070795	0.23452	0.212290734053	0.00912	T	0.003896	0.03302	T	-0.483775	0.00703	T	-0.600621	0.12759	T	0.0127294893884048	0.00215	T	0.466053	0.13673	T	0.02291079	0.00988	0.027614659	0.00927	0.02291079	0.00988	0.027614659	0.00927	-4.998	0.36819	T	.	.	0.068	0.09917	B	.;.	.;.	0.040624	0.04569	1.252	0.90362818841768	0.19626	0.00894	0.03512	N	AEFDGBI	0.040279	0.05968	N	-1.76267070329961	0.00643	0.02773723	-1.80692663087135	0.00737	0.03286027	0.639634266966967	0.22041	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.37	-5.93	0.02067	-0.513000	0.06389	-0.140000	0.11527	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6217:0.1123:0.2661:0.0	8.505	0.32342	59	0.97452	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	.	.	.	.	.	.	.	.	0.05263	2059.83	35	chr20	33291016	.	G	A	2059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.406;DP=760;ExcessHet=0.119;FS=3.485;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.21;SOR=0.47	GT:AD:DP:GQ:PL	0/1:37,39:76:99:910,0,807	17	0	2	0
chr20	33297534	33297534	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon7:c.G607A:p.V203M	.	419	1101	1	1	0	3	0.00136054	.	.	.	2335686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00839936862669	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0001682	26	154602	rs45473499	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0001	0.0003	3.826e-05	0	0	0.0028	0.0002	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0.0004	0	0.0034	0.0002	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000740	0.42129	N	0.105378	0.997803	0.22499	N	2.57	0.75187	M	3.27	0.06602	T	-1.03	0.27052	N	0.303	0.34228	-1.0923	0.05159	T	0.048	0.20553	T	10	0.129749	0.24689	T	0.008399	0.22231	T	0.123	0.34020	.	.	0.246215685461	0.24236	0.19985060906393515	0.19902	0.411433108143	0.41895	0.430411934853	0.29265	T	0.057135	0.30481	T	-0.404768	0.02154	T	-0.497232	0.22634	T	0.101768522818546	0.12551	T	0.70483	0.31518	T	0.038501438	0.05140	0.06926973	0.14574	0.038501438	0.05140	0.06926973	0.14574	-4.238	0.27298	T	.	.	0.154	0.33981	B	.	.	3.246139	0.44328	21.9	0.9979344804690754	0.87928	0.13129	0.17679	N	AEFBI	0.068951	0.13625	N	-0.0407135230320952	0.40019	2.369496	-0.236006413773942	0.30257	1.702009	0.194515039969476	0.18042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.92	1.89	0.24700	0.484000	0.22017	2.833000	0.35033	0.676000	0.76740	0.293000	0.25261	0.999000	0.35428	0.057000	0.15750	0.1832:0.0:0.6471:0.1697	4.893	0.13093	54	0.97570	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	0.003021	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2726.83	34	chr20	33297534	.	G	A	2726.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.12;DP=795;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.14;SOR=0.829	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1127,0,969	17	0	2	0
chr20	34292436	34292436	C	T	exonic	AHCY	.	nonsynonymous SNV	AHCY:NM_000687:exon4:c.G367A:p.G123R,AHCY:NM_001161766:exon4:c.G283A:p.G95R,AHCY:NM_001322084:exon4:c.G283A:p.G95R,AHCY:NM_001322085:exon4:c.G283A:p.G95R,AHCY:NM_001322086:exon4:c.G373A:p.G125R,AHCY:NM_001362750:exon4:c.G367A:p.G123R	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	533553	Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase|not_provided|Inborn_genetic_diseases|AHCY-related_disorder	MONDO:MONDO:0013404,MedGen:C3151058,OMIM:613752,Orphanet:88618|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.632	0.0765513061894	0.0046	0.00319489	0.0041	0.0010	0.0034	0	0.0008	0.0062	0.0022	0.0012	0.0042884	663	154602	rs41301825	0.0054	0.0054	0.0054	0.0053	0.0064	0.0053	0.0052	0.0063	0.0062	0.0008	0.0033	0.0046	0	0.0011	0.0021	0.0064	0.0044	0.0012	0.0041	0.0041	0.0046	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0010	0.0033	0.0022	0.0055	0	0.0006	0.0068	0.0073	0.0061	0.0014	0.018	0.52492	D	0.008	0.67890	D	0.997	0.70673	D	0.828	0.59497	P	0.000001	0.62929	D	0.098369	0.999992	0.58761	D	2.98	0.85499	M	-1.23	0.78860	T	-3.45	0.68412	D	0.729	0.73285	-0.1291	0.79422	T	0.357	0.71967	T	10	0.0127850175	0.00273	T	0.076551	0.72558	D	0.632	0.85872	0.558	0.67684	0.74125211765	0.73892	0.9209432453530402	0.92070	1.37490233387	0.84640	0.857202470303	0.90696	D	0.84254	0.96341	D	-0.0891308	0.38219	T	0.107155	0.77384	D	0.0259668625663982	0.01401	T	0.905309	0.66640	D	0.5441535	0.69630	0.48318335	0.70078	0.7354957	0.80036	0.46641433	0.69040	-4.555	0.49649	T	0.3078404220851	0.40559	0.284	0.51643	B	.;.	.;.	4.968473	0.82200	27.7	0.99808281644864016	0.89264	0.98520	0.83657	D	AEFGBI	0.812836	0.73547	D	0.537846156574199	0.69343	5.343761	0.571417694934979	0.72899	5.883201	0.999999999270755	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	6.109000	0.71203	3.371000	0.37932	0.596000	0.33519	1.000000	0.71638	0.985000	0.30750	0.917000	0.45243	0.0:1.0:0.0:0.0	18.756	0.91795	107	0.95615	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.009202	0.003788	0.02632	1460.33	35	chr20	34292436	.	C	T	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=788;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.124;SOR=0.756	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1474,0,1750	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	0/1:95,55:153:99:286,0,1476	2	0	17	0
chr20	35479402	35479402	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon16:c.G370A:p.A124T,CEP250:NM_007186:exon18:c.G2266A:p.A756T	.	.	.	.	.	.	.	.	.	.	.	1014093	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00288389448069	0.0002	.	5.839e-05	0	0.0005	0	0	1.516e-05	0	0	4.53e-05	7	154602	rs143763293	2.395e-05	2.394e-05	3.132e-05	1.65e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0.0004	0	2.519e-05	0	0.0002	8.994e-06	0	4.639e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0	0.586	0.05881	T	0.268	0.22494	T	0.002	0.09854	B	0.001	0.04355	B	0.938488	0.08370	N	0.971212	1	0.08975	N	0.255	0.09829	N	2.91	0.10008	T	-0.4	0.13805	N	0.092	0.07125	-0.9667	0.37874	T	0.015	0.05897	T	10	0.017373174	0.00370	T	0.002884	0.06074	T	0.080	0.23350	.	.	0.110078149338	0.10416	0.021294660118888645	0.02082	0.134575765578	0.15155	0.254459381104	0.04252	T	0.024675	0.18600	T	-0.681876	0.00047	T	-0.889284	0.00581	T	0.0210710030039406	0.00809	T	0.644036	0.25562	T	0.011874004	0.00023	0.032912653	0.02102	0.011874004	0.00023	0.032912653	0.02102	-3.948	0.23023	T	.	.	0.066	0.02065	B	.	.	-0.725118	0.01263	0.066	0.76823739088331033	0.11624	0.03770	0.09084	N	AEFDGBHCI	0.020336	0.00793	N	-1.66231181493225	0.00984	0.04266063	-1.78783374559844	0.00799	0.03565314	0.999999999990872	0.74766	0.706548	0.73137	0	0.585951	0.33947	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	-10.3	0.00281	-0.913000	0.04150	-2.284000	0.03952	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2645:0.0:0.611:0.1245	11.7	0.50829	537	0.73184	.	.	.	.	.	.	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	1005.33	33	chr20	35479402	.	G	A	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=709;ExcessHet=0;FS=3.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.385;SOR=1.259	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1019,0,552	18	0	1	0
chr20	36255683	36255683	G	A	exonic	AAR2	.	nonsynonymous SNV	AAR2:NM_001271874:exon4:c.G1093A:p.A365T,AAR2:NM_015511:exon4:c.G1093A:p.A365T	.	430	1063	27	2	0	31	0.0143718	.	.	.	728627	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00456560478913	0.0045	0.00199681	0.0048	0.0007	0.0022	0	0.0030	0.0059	0.0066	0.0078	0.0047541	735	154602	rs141340897	0.0054	0.0054	0.0052	0.0056	0.0104	0.0053	0.0053	0.0083	0.0075	0.0008	0.0029	0.0026	2.519e-05	0.0033	0.0104	0.0059	0.0047	0.0076	0.0046	0.0046	0.0048	0.0044	0.0069	0.0043	0.0042	0.0059	0.0057	0.0009	0.0296	0.0069	0.0023	0.0002	0.0038	0.0204	0.0064	0.0062	0.0058	0.359	0.11957	T	0.488	0.11621	T	0.006	0.13644	B	0.02	0.19048	B	.	.	.	.	0.905415	0.81001	D	1.445	0.36358	L	0.94	0.43672	T	-0.19	0.09965	N	0.103	0.08646	-1.0467	0.15332	T	0.061	0.25455	T	9	0.0059212446	0.00133	T	0.004566	0.11252	T	0.057	0.16321	.	.	0.556811950826	0.55341	0.06101420694278821	0.06041	0.215112681451	0.24044	0.32391834259	0.14015	T	0.020763	0.16287	T	-0.457199	0.01023	T	-0.423255	0.30702	T	0.00863834843521966	0.00106	T	0.813219	0.46599	T	0.023970261	0.01184	0.077737264	0.17346	0.030735558	0.02788	0.09245888	0.21790	-5.736	0.44013	T	0.2684861974635976	0.36156	0.086	0.11124	B	.;.	.;.	2.830690	0.37313	20.5	0.99001449766399652	0.50168	0.95450	0.64769	D	AEFDBI	0.363660	0.45248	N	-0.31823185212097	0.28455	1.569668	-0.179261250004769	0.32300	1.836268	0.999998790756796	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.21	0.72005	3.741000	0.54810	5.070000	0.47169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:0.8287:0.1713	14.709	0.68826	766	0.49742	.;.	.	.	.	.	.	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	0.007049	0.005051	0.006793	0.005848	0.000000	0.000000	0.012195	0.007576	0.05263	2123.83	38	chr20	36255683	.	G	A	2123.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.196;DP=804;ExcessHet=0.119;FS=4.073;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.664;SOR=0.468	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1131,0,1636	17	0	2	0
chr20	36614435	36614435	G	T	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon7:c.C535A:p.L179M	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00452788909904	0.0002	0.000798722	0.0002	0	0.0003	0	0	0.0001	0	0.0007	0.0001746	27	154602	rs369586607	9.427e-05	9.577e-05	9.031e-05	9.828e-05	0.0004	8.14e-05	7.629e-05	0.0003	0.0002	0	0.0003	0.0007	0	0	0.0004	6.051e-05	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0006	0	0	0.0102	0.0001	0.0005	0.0012	0.119	0.28026	T	0.246	0.23984	T	0.097	0.25541	B	0.07	0.27859	B	0.056136	0.22585	N	0.445847	1	0.81001	D	-1.04	0.01097	N	1.53	0.30401	T	0.45	0.03191	N	0.308	0.34767	-1.0530	0.13574	T	0.020	0.08407	T	10	0.012608767	0.00270	T	0.004528	0.11157	T	0.019	0.03383	.	.	0.238705975628	0.23479	0.28377766907229196	0.28290	0.244945792748	0.27014	0.477763593197	0.35749	T	0.059387	0.31103	T	-0.532285	0.00372	T	-0.663975	0.08001	T	0.0325337067276806	0.02394	T	0.157684	0.01397	T	0.19506036	0.41279	0.07444584	0.16288	0.19506036	0.41279	0.07444584	0.16288	-2.374	0.04976	T	.	.	0.095	0.14979	B	.	.	2.293992	0.29350	18.09	0.96096459878269869	0.28700	0.51746	0.28968	D	AEFDGBHCI	0.071339	0.14199	N	-0.72194443781758	0.15406	0.7761154	-0.527515402175689	0.21407	1.157907	0.999421487112394	0.39630	0.498214	0.20090	0	0.573116	0.20632	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.22	0.466	0.15928	0.112000	0.15312	1.369000	0.25941	-0.143000	0.12349	0.974000	0.34632	0.976000	0.30059	0.984000	0.60418	0.1919:0.1424:0.3439:0.3218	0.871	0.01136	367	0.84523	SH2 domain|SH2 domain|SH2 domain|SLAP, 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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	216.33	35	chr20	36614435	.	G	T	216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=-0.977;SOR=0.846	GT:AD:DP:GQ:PL	0/1:36,12:48:99:230,0,1065	18	0	1	0
chr20	43540973	43540973	C	G	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_015478:exon19:c.C2164G:p.L722V,L3MBTL1:NM_001377303:exon22:c.C2434G:p.L812V,L3MBTL1:NM_032107:exon22:c.C2368G:p.L790V	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0053	0.0345447	0.0186	0.0150	0.0020	0.0068	0	7.519e-05	0.0078	0.1212	0.0162352	2510	154602	rs61736753	0.0092	0.0092	0.0062	0.0123	0.1141	0.0091	0.0090	0.1123	0.1115	0.0164	0.0009	0	0.0581	0	0.0040	9.892e-05	0.0097	0.1141	0.0086	0.0086	0.0067	0.0105	0.1180	0.0082	0.0080	0.1100	0.1068	0.0146	0	0.0016	0	0.0180	0	0	8.82e-05	0.0033	0.1180	0.157	0.23997	T	0.043	0.50226	D	0.906	0.49993	P	0.395	0.44317	B	0.281118	0.14943	N	0.551423	1	0.08975	N	.	.	.	2.16	0.19588	T	-1.58	0.38151	N	0.025	0.00485	-1.0696	0.09501	T	0.015	0.06090	T	10	0.0024258196	0.00036	T	.	.	.	0.029	0.06676	.	.	.	.	0.1650429698965462	0.16424	0.17885719924	0.20123	0.209039747715	0.00771	T	.	.	.	-0.719661	0.00028	T	-0.709803	0.05305	T	0.0103036352121491	0.00140	T	0.40106	0.10202	T	0.042931907	0.06600	0.048359677	0.07165	0.042931907	0.06599	0.048359677	0.07165	-3.75	0.20089	T	.	.	0.054	0.00890	B	.;.;.	.;.;.	-0.123293	0.03505	0.661	0.91236377407246161	0.20493	0.06324	0.12321	N	AEFBI	0.053785	0.09723	N	-0.795908268010662	0.13417	0.6607638	-0.957688073837997	0.10744	0.5431497	0.00442892758213981	0.10550	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.34	0.308	0.15062	0.173000	0.16538	0.433000	0.18345	-0.817000	0.03001	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2159:0.5633:0.0:0.2209	3.097	0.05933	666	0.61362	.;.;.	.	.	.	.	.	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	0.009567	0.000000	0.000000	0.005848	0.000000	0.017241	0.006098	0.034091	0.02632	1693.33	41	chr20	43540973	.	C	G	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=857;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.246;SOR=0.542	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1707,0,1605	18	0	1	0
chr20	45904976	45904976	G	A	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon7:c.C563T:p.A188V,PLTP:NM_001242921:exon7:c.C584T:p.A195V,PLTP:NM_182676:exon8:c.C692T:p.A231V,PLTP:NM_006227:exon9:c.C848T:p.A283V	.	.	.	.	.	.	.	.	.	.	.	3175994	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.370	0.0218322361674	0.0002	0.000798722	0.0003	9.628e-05	8.639e-05	0	0	4.496e-05	0	0.0018	0.0002523	39	154602	rs142277281	0.0001	0.0001	6.806e-05	0.0002	0.0015	0.0001	9.567e-05	0.0013	0.0012	0	0	7.652e-05	0.0002	0	0	1.619e-05	0.0002	0.0015	6.564e-05	7.217e-05	5.138e-05	8.054e-05	0.0017	3.513e-05	2.614e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0017	0.004	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.944	0.71005	D	0.000004	0.62929	D	0.105104	0.999543	0.47497	D	2.135	0.59519	M	2.78	0.11298	T	-3.42	0.69835	D	0.862	0.87590	-1.1529	0.00941	T	0.081	0.31884	T	10	0.13412768	0.25526	T	0.021832	0.44651	T	0.370	0.68930	.	.	0.233150807113	0.22925	0.8539370409787151	0.85356	0.716152092919	0.61981	0.529777765274	0.43003	T	0.348928	0.71685	T	-0.264176	0.12415	T	-0.171262	0.57328	T	0.248826205730438	0.22821	T	0.910709	0.68343	D	0.8140447	0.84821	0.7104005	0.82917	0.8140447	0.84822	0.7104005	0.82918	-7.402	0.58213	T	.	.	0.172	0.44332	B	.;.;.;.;.	.;.;.;.;.	4.603400	0.72932	25.9	0.99920228605541583	0.98721	0.94375	0.60965	D	AEFDBCI	0.878928	0.80451	D	0.756221716223645	0.83312	7.984015	0.74933468976705	0.86105	8.784785	0.999999995828037	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	6.899000	0.75502	6.594000	0.56035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	19.438	0.94793	746	0.52331	.;.;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	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	2144.33	34	chr20	45904976	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=816;ExcessHet=0;FS=1.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.449;SOR=0.661	GT:AD:DP:GQ:PL	0/1:96,94:190:99:2158,0,2139	18	0	1	0
chr20	47221364	47221364	C	T	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281771:exon19:c.G2911A:p.A971T,ZMYND8:NM_001281776:exon19:c.G2986A:p.A996T,ZMYND8:NM_001281781:exon19:c.G3013A:p.A1005T,ZMYND8:NM_001281782:exon19:c.G3073A:p.A1025T,ZMYND8:NM_001281784:exon19:c.G3151A:p.A1051T,ZMYND8:NM_001281775:exon20:c.G3367A:p.A1123T,ZMYND8:NM_001281777:exon20:c.G3154A:p.A1052T,ZMYND8:NM_001281778:exon20:c.G3292A:p.A1098T,ZMYND8:NM_001281783:exon20:c.G3367A:p.A1123T,ZMYND8:NM_001363714:exon20:c.G3388A:p.A1130T,ZMYND8:NM_012408:exon20:c.G3229A:p.A1077T,ZMYND8:NM_183047:exon20:c.G3229A:p.A1077T,ZMYND8:NM_183048:exon20:c.G3154A:p.A1052T,ZMYND8:NM_001281773:exon21:c.G3307A:p.A1103T,ZMYND8:NM_001281774:exon21:c.G3169A:p.A1057T,ZMYND8:NM_001281779:exon21:c.G2425A:p.A809T,ZMYND8:NM_001281780:exon21:c.G2425A:p.A809T,ZMYND8:NM_001363741:exon21:c.G3307A:p.A1103T,ZMYND8:NM_001281772:exon22:c.G3307A:p.A1103T	.	431	1081	9	1	0	11	0.00506213	.	.	.	2396388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00967715537484	0.0002	.	0.0002	9.612e-05	0.0010	0.0001	0	0.0001	0.0011	0	0.0001552	24	154602	rs143716806	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0.0001	0.0008	3.826e-05	2.519e-05	0	0.0016	0.0002	0.0005	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	7.216e-05	0	0.0016	0	0	0	0.0034	0.0002	0.0019	0	0.437	0.12961	T	0.742	0.07316	T	0.002	0.09854	B	0.001	0.08700	B	0.032776	0.24985	N	0.432753	0.97205	0.26530	N	0.345	0.11182	N	0.57	0.54347	T	0.01	0.09796	N	0.176	0.26233	-1.0014	0.29516	T	0.064	0.26562	T	10	0.018911302	0.00416	T	0.009677	0.25290	T	0.023	0.04649	.	.	0.379214838424	0.37538	0.16214316185650401	0.16134	0.384277178928	0.39732	0.278437525034	0.07276	T	0.010482	0.09459	T	-0.465963	0.00901	T	-0.521361	0.20156	T	0.00754689844325185	0.00087	T	0.880112	0.61998	D	0.018104492	0.00332	0.03312803	0.02156	0.018104492	0.00332	0.03312803	0.02156	-2.982	0.12358	T	.	.	0.058	0.00919	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.372569	0.17831	13.39	0.67872337020210671	0.08485	0.22848	0.21883	N	AEFDBHCIJ	0.057182	0.10630	N	-0.363406447558495	0.26783	1.46435	-0.366144015250453	0.26015	1.434221	0.0176432889997388	0.12973	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.66	0.013	0.13413	0.108000	0.15232	-1.036000	0.06531	0.599000	0.40250	0.584000	0.27618	0.000000	0.08366	0.486000	0.28701	0.0:0.3304:0.0:0.6696	9.349	0.37291	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	0	0	0	1	0	1	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1315.33	35	chr20	47221364	.	C	T	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=741;ExcessHet=0;FS=1.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.804;SOR=0.74	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1329,0,1324	18	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,19:90:30:.:.:30,0,1986:.	14	0	5	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,19:82:39:.:.:39,0,1938:.	4	0	11	4
chr20	61998995	61998995	C	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon12:c.G2901T:p.M967I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0128060802578	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987356346	2.737e-06	3.42e-06	0	5.502e-06	0.0003	6.4e-07	4.3e-07	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.031	0.53788	D	0.145	0.27759	B	0.111	0.31539	B	0.000004	0.62929	D	0.102237	0.999993	0.58761	D	1.525	0.38595	L	1.92	0.23082	T	-1.13	0.29114	N	0.767	0.76481	-1.0931	0.05036	T	0.045	0.19478	T	10	0.54179275	0.63761	D	0.012806	0.31705	T	0.218	0.51265	0.492	0.57890	0.444038270253	0.44025	0.14204870247523052	0.14127	1.06551080451	0.76615	0.731590807438	0.71738	T	0.179553	0.53058	T	-0.0828731	0.39245	T	-0.356818	0.38420	T	0.820408761501312	0.47803	D	0.940673	0.77758	D	0.2046666	0.42584	0.17814706	0.40464	0.2046666	0.42584	0.17814706	0.40463	-7.829	0.59899	D	.	.	0.978	0.90682	P	.	.	4.240643	0.64293	24.7	0.92424422540435225	0.21841	0.96733	0.70648	D	AEFGBI	0.525248	0.54810	D	-0.501768297801255	0.22022	1.173035	-0.4109764820712	0.24676	1.352546	0.999865698171024	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	3.23	0.36150	5.593000	0.67242	7.486000	0.59313	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.1381:0.7895:0.0:0.0724	10.002	0.41105	934	0.15400	Transcription initiation factor TFIID component TAF4|Transcription initiation factor TFIID component TAF4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	904.33	41	chr20	61998995	.	C	A	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=790;ExcessHet=0;FS=0.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.211;SOR=0.906	GT:AD:DP:GQ:PL	0/1:36,38:74:99:918,0,828	18	0	1	0
chr20	63315409	63315409	C	G	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon20:c.C2494G:p.P832A	.	.	.	.	.	.	.	.	.	.	.	2678245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.24982121479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900945488	1.544e-05	1.573e-05	1.252e-05	1.841e-05	1.912e-05	1.011e-05	8.63e-06	1.229e-05	1.043e-05	0	0	0	0	0	0	1.912e-05	1.686e-05	0	3.942e-05	3.94e-05	7.708e-05	0	8.82e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.008	0.58626	D	0.001	0.83351	D	0.996	0.68779	D	0.876	0.62173	P	0.000000	0.84330	U	0.000000	0.994714	0.42388	D	2.885	0.83555	M	-2.44	0.88767	D	-5.16	0.83422	D	0.276	0.33796	0.486	0.90350	D	0.760	0.91830	D	10	0.47077063	0.59848	T	0.249821	0.89066	D	0.456	0.75483	0.336	0.32491	0.952030100659	0.95152	0.14067888390613079	0.13990	0.253375711592	0.27906	0.559362471104	0.47179	T	0.188209	0.54205	T	0.00328763	0.52107	T	-0.233054	0.51476	T	0.962532043457031	0.66396	D	0.538446	0.18153	T	0.36640894	0.58318	0.30833733	0.56852	0.36640894	0.58319	0.30833733	0.56851	-5.619	0.42965	T	.	.	0.094	0.19357	B	.;.	.;.	3.498605	0.48938	22.7	0.99590367054019979	0.73572	0.56158	0.30046	D	AEFDGBI	0.129058	0.24707	N	0.150003423046279	0.48813	3.088928	0.0428019429065495	0.41726	2.511604	0.999975317025151	0.50053	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	1.472000	0.34984	6.911000	0.56899	0.544000	0.25403	0.978000	0.35038	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	13.392	0.60276	.	.	Fibronectin type III;.	.	.	.	.	.	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	694.33	39	chr20	63315409	.	C	G	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.732;SOR=0.846	GT:AD:DP:GQ:PL	0/1:20,29:49:99:708,0,471	18	0	1	0
chr20	63562626	63562626	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G4489A:p.V1497M,HELZ2:NM_001037335:exon9:c.G6196A:p.V2066M	.	.	.	.	.	.	.	.	.	.	.	3689255	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.0493692121046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318848057	6.947e-07	1.368e-06	1.379e-06	0	2.397e-05	0	0	.	.	0	2.397e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.995	0.70673	D	0.966	0.71341	D	0.200996	0.16601	N	0.550322	1	0.08975	N	2.635	0.77114	M	-2.05	0.85799	D	-2.18	0.49187	N	0.157	0.17002	-0.2001	0.77669	T	0.662	0.88272	D	10	0.28241462	0.45820	T	0.049369	0.63780	D	0.266	0.57999	0.304	0.27325	0.593798965771	0.59057	0.5340450405919143	0.53329	0.212704570118	0.23774	0.317069351673	0.12976	T	0.04258	0.26229	T	-0.0725242	0.40921	T	-0.239009	0.50895	T	0.237480854260905	0.22303	T	0.644436	0.25592	T	0.06413125	0.13575	0.07431314	0.16243	0.06413125	0.13575	0.07431314	0.16243	-6.568	0.50907	T	.	.	0.221	0.46608	B	.;.	.;.	1.694646	0.21587	15.26	0.99652692096725326	0.77380	0.06786	0.12809	N	AEFDGBI	0.056991	0.10580	N	-0.111473463241417	0.36894	2.138722	-0.325537083423292	0.27276	1.512423	0.257715875350152	0.18754	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.32	3.11	0.34883	0.098000	0.15027	1.547000	0.27267	0.549000	0.26987	0.011000	0.18532	0.893000	0.27858	0.005000	0.06747	0.0:0.7044:0.1485:0.1471	8.668	0.33294	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	878.33	54	chr20	63562626	.	C	T	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.333;DP=1096;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.541;SOR=0.637	GT:AD:DP:GQ:PL	0/1:36,36:72:99:892,0,980	18	0	1	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M,TPD52L2:NM_001243892:exon3:c.G229A:p.V77M,TPD52L2:NM_001243894:exon3:c.G298A:p.V100M,TPD52L2:NM_001243895:exon3:c.G298A:p.V100M,TPD52L2:NM_003288:exon3:c.G298A:p.V100M,TPD52L2:NM_199359:exon3:c.G298A:p.V100M,TPD52L2:NM_199360:exon3:c.G298A:p.V100M,TPD52L2:NM_199361:exon3:c.G298A:p.V100M,TPD52L2:NM_199362:exon3:c.G298A:p.V100M,TPD52L2:NM_199363:exon3:c.G298A:p.V100M	.	437	1059	24	2	0	28	0.0130475	.	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.000000	0.006793	0.002941	0.000000	0.025862	0.012346	0.034351	0.02632	650.33	36	chr20	63873800	.	G	A	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.036;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.245;SOR=0.544	GT:AD:DP:GQ:PL	0/1:22,25:47:99:664,0,574	18	0	1	0
chr20	64218934	64218934	G	A	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon12:c.G1870A:p.E624K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0302200596172	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1472129586	1.026e-05	1.026e-05	8.17e-06	1.238e-05	1.169e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.165	0.57104	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	0.27	0.59176	T	-3.64	0.69835	D	0.578	0.61933	-0.1862	0.78024	T	0.416	0.76292	T	10	0.74078137	0.74941	D	0.03022	0.52574	D	0.480	0.77077	0.822	0.93461	0.404519682234	0.40067	.	.	1.18336280601	0.80073	0.78042113781	0.78991	T	0.090642	0.85083	T	0.265069	0.79995	D	0.142977	0.79738	D	0.983110308647156	0.74903	D	0.927407	0.91457	D	0.78435165	0.82922	0.710679	0.82933	0.78435165	0.82923	0.710679	0.82934	-14.052	0.93224	D	.	.	0.248	0.69016	B	.;.;.;.	.;.;.;.	3.905373	0.56920	23.8	0.99362592793416749	0.61071	0.99491	0.96677	D	AEFBI	0.907308	0.86118	D	0.447151857773309	0.64040	4.650052	0.487016140966052	0.67130	5.042845	0.999999999999762	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.49	5.49	0.81022	6.766000	0.74765	9.819000	0.81792	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:0.0:1.0:0.0	19.730	0.96172	.	.	Myelin transcription factor 1;Myelin transcription factor 1;.;Myelin transcription factor 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	1259.33	33	chr20	64218934	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=765;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.922;SOR=0.801	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1273,0,1018	18	0	1	0
chr21	10598093	10598093	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.C941T:p.S314L,TPTE:NM_199260:exon19:c.C1241T:p.S414L,TPTE:NM_199259:exon20:c.C1301T:p.S434L,TPTE:NM_199261:exon21:c.C1355T:p.S452L	.	424	1070	27	1	0	29	0.0133702	0.0004	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147105244	0.0007	0.0018	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0	0.0004	0.0013	7.568e-05	5.619e-05	0.0033	0.0003	0.0008	0.0076	0.0006	0.0013	0.0005	0.0007	0.0080	0.0005	0.0005	0.0060	0.0053	4.809e-05	0	0.0002	0.0012	0.0004	0	0	0.0006	0.0014	0.0080	.	.	.	0.272	0.27503	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.19593	.	.	.	.	.	.	.	0.014126092	0.00298	T	.	.	.	.	.	.	.	.	.	0.7574105861191883	0.75689	.	.	.	.	.	0.256782	0.62774	T	.	.	.	.	.	.	.	.	.	0.650435	0.26116	T	.	.	.	.	.	.	.	.	-4.445	0.31767	T	.	.	0.082	0.11558	B	.;.;.;.	.;.;.;.	-0.601585	0.01567	0.104	.	.	.	.	.	.	0.019152	0.00640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.468000	0.02456	-6.787000	0.01306	-1.838000	0.00583	0.010000	0.18352	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	488.33	34	chr21	10598093	.	C	T	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=1130;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0.492;QD=2.53;ReadPosRankSum=1.65;SOR=0.623	GT:AD:DP:GQ:PL	0/1:157,36:193:99:502,0,3811	18	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	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	0/1:145,170:315:99:4374,0,3296	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	0/1:139,105:244:99:2841,0,3371	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	1/1:0,202:202:99:5633,606,0	3	5	11	0
chr21	32347061	32347061	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon22:c.G3763A:p.A1255T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00530812636386	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs768691472	2.146e-06	3.42e-06	2.822e-06	1.45e-06	3.789e-05	5.7e-07	1.6e-07	1.006e-05	4.79e-06	0	0	0	0	0	0	0	0	3.789e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.146	0.32891	T	0.156	0.28196	B	0.037	0.23121	B	0.038041	0.24329	N	0.439992	1	0.08975	N	1.995	0.54099	M	1.52	0.30669	T	-0.07	0.08033	N	0.073	0.04668	-0.9752	0.36082	T	0.042	0.18243	T	10	0.04007852	0.02548	T	0.005308	0.13587	T	0.030	0.07022	0.334	0.32167	0.0846915920261	0.08053	0.12676823869543355	0.12602	.	.	0.284811943769	0.08172	T	0.001956	0.01365	T	-0.40907	0.02016	T	-0.621778	0.11047	T	0.0716964283474328	0.08887	T	0.418758	0.11073	T	0.030090509	0.02612	0.04805966	0.07059	0.030090509	0.02612	0.04805966	0.07058	-4.381	0.29298	T	.	.	0.083	0.09385	B	.	.	0.608044	0.09765	6.532	0.98334971998175125	0.40378	0.17242	0.19752	N	AEFDBCI	0.092477	0.18721	N	-1.04101929703325	0.07765	0.3618165	-1.08224334020554	0.08050	0.3941314	0.998780407416759	0.37667	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	3.78	-1.8	0.07480	0.017000	0.13294	-0.793000	0.07406	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.0929:0.1379:0.6971:0.0721	12.656	0.56151	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	0	0	0	1	0	0	0	0.001193	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	1095.33	36	chr21	32347061	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.584;DP=700;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.67;ReadPosRankSum=-0.321;SOR=0.872	GT:AD:DP:GQ:PL	0/1:23,39:62:99:1109,0,685	18	0	1	0
chr21	32372604	32372604	T	C	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon8:c.A904G:p.M302V	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00348801260327	0.0026	0.00339457	0.0026	0.0075	0	0.0067	0	0.0006	0	0.0039	0.0006015	93	154602	rs77293699	0.0007	0.0007	0.0007	0.0008	0.0103	0.0007	0.0007	0.0094	0.0090	0.0103	0.0005	0.0009	0.0003	2.031e-05	0.0053	0.0002	0.0019	0.0040	0.0027	0.0027	0.0029	0.0024	0.0084	0.0024	0.0024	0.0076	0.0074	0.0084	0	0.0008	0	0.0006	0	0.0068	0.0002	0.0028	0.0039	0.683	0.04391	T	0.196	0.27943	T	0.001	0.07471	B	0.003	0.08700	B	0.005067	0.33125	N	0.337573	0.632408	0.32802	D	0.69	0.16971	N	1.65	0.27650	T	0.16	0.05217	N	0.096	0.07673	-1.0239	0.22443	T	0.037	0.16073	T	10	0.006893933	0.00157	T	0.003488	0.07908	T	0.018	0.03083	.	.	0.12205267543	0.11705	0.26535585330796635	0.26448	.	.	0.257085978985	0.04550	T	0.001731	0.01158	T	-0.588251	0.00172	T	-0.611785	0.11840	T	0.00237065210002331	0.00025	T	0.60344	0.22635	T	0.021204103	0.00711	0.035834998	0.02910	0.021204103	0.00710	0.035834998	0.02909	-3.17	0.12117	T	.	.	0.06	0.00934	B	.	.	1.107415	0.14925	11.44	0.65536471741667146	0.07800	0.66333	0.33042	D	AEFBCI	0.092338	0.18694	N	-0.519274251706954	0.21458	1.138873	-0.413815534124483	0.24591	1.347478	0.999929484138418	0.46280	0.730579	0.87903	0	0.653731	0.59785	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	4.97	2.57	0.29928	0.943000	0.28628	0.887000	0.22442	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.789000	0.37270	0.0:0.1567:0.0:0.8433	8.961	0.35008	930	0.16408	Nucleolar pre-ribosomal-associated protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001238	0.000000	0.000000	0.004386	0.000000	0.000000	0.005618	0.013514	0.02632	758.33	38	chr21	32372604	.	T	C	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.839;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.155;SOR=0.606	GT:AD:DP:GQ:PL	0/1:35,38:73:99:772,0,845	18	0	1	0
chr21	36263628	36263628	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon25:c.C5398T:p.P1800S,DOP1B:NM_005128:exon25:c.C5398T:p.P1800S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.0987784655091	0.0002	.	3.295e-05	9.623e-05	0	0	0	4.495e-05	0	0	2.59e-05	4	154602	rs375198543	5.746e-05	5.746e-05	6.806e-05	4.675e-05	7.194e-05	4.743e-05	4.366e-05	5.884e-05	5.451e-05	5.974e-05	0	0	0	1.872e-05	0	7.194e-05	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	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	2.52	0.73523	M	-0.15	0.65192	T	-6.4	0.91184	D	0.799	0.79503	-0.1205	0.79622	T	0.498	0.81024	T	10	0.8288457	0.82054	D	0.098778	0.76998	D	0.432	0.73807	.	.	0.743204782601	0.74089	0.5038374089214765	0.50305	0.727690530168	0.62576	0.66296517849	0.61833	T	0.287302	0.66010	T	0.0532968	0.58766	T	0.0203086	0.71649	D	0.90575760602951	0.55959	D	0.947205	0.79675	D	0.64212483	0.74944	0.69854134	0.82244	0.64212483	0.74946	0.69854134	0.82244	-5.307	0.40012	T	.	.	0.418	0.60538	A	.	.	4.250115	0.64501	24.7	0.99888678581457757	0.96359	0.98802	0.87042	D	AEFDBI	0.692396	0.65207	D	0.76208319658511	0.83690	8.08372	0.69803395828845	0.82231	7.715689	0.999999999969228	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.83	5.83	0.93059	7.051000	0.76339	7.508000	0.59580	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	20.115	0.97926	841	0.37094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1228.33	34	chr21	36263628	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.707;DP=739;ExcessHet=0;FS=2.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.983;SOR=0.481	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1242,0,1188	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,10:88:99:0|1:41918930_C_G:122,0,3189:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,10:89:99:0|1:41918930_C_G:119,0,3231:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,10:89:99:0|1:41918930_C_G:119,0,3231:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,10:87:99:0|1:41918930_C_G:125,0,3147:41918930	10	0	9	0
chr21	45456068	45456068	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon1:c.G538A:p.A180T,COL18A1:NM_130444:exon1:c.G538A:p.A180T	Knobloch syndrome, type 1, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	.	1159023	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.010	.	0.0087	0.00359425	0.0074	0.0017	0.0038	0.0005	0.0054	0.0108	0.0094	0.0036	0.007225	1117	154602	rs148957774	0.0093	0.0093	0.0095	0.0091	0.0108	0.0092	0.0091	0.0106	0.0105	0.0017	0.0044	0.0076	0.0003	0.0064	0.0087	0.0108	0.0085	0.0033	0.0073	0.0073	0.0078	0.0067	0.0120	0.0069	0.0068	0.0113	0.0110	0.0018	0.0077	0.0052	0.0055	0.0008	0.0066	0.0068	0.0120	0.0066	0.0048	0.624	0.05245	T	0.81	0.05000	T	0.0	0.07471	B	0.001	0.04355	B	0.587584	0.05572	N	1.367480	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.37	0.13226	N	0.042	0.01498	-1.0271	0.21396	T	0.017	0.06950	T	10	0.0037117004	0.00069	T	.	.	.	0.010	0.01040	.	.	0.152612264143	0.14878	0.06724831293122445	0.06662	0.065656974195	0.07326	0.298339575529	0.10155	T	0.015896	0.13243	T	-0.76639	0.00014	T	-0.863254	0.00809	T	0.00342376605981443	0.00036	T	0.382462	0.09295	T	0.030336697	0.02680	0.04378223	0.05526	0.032455485	0.03273	0.04378223	0.05525	-3.729	0.20208	T	.	.	0.066	0.02313	B	.;.	.;.	-0.553994	0.01702	0.124	0.34627132206956301	0.02128	0.00117	0.00738	N	AEFBI	0.092985	0.18818	N	-2.07699661079924	0.00144	0.006154674	-2.14999170462211	0.00145	0.006366307	0.999999999835374	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.45	-8.9	0.00673	-4.355000	0.00283	-2.235000	0.04018	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2442:0.1866:0.3841:0.1852	1.765	0.02819	680	0.59965	.;Domain of unknown function DUF959, collagen XVIII, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.000000	0.008152	0.000000	0.000000	0.008621	0.018293	0.015152	0.02632	1613.33	149	chr21	45456068	.	G	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.23;DP=1805;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.142;SOR=0.507	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1627,0,1847	18	0	1	0
chr21	46152546	46152546	G	A	exonic	FTCD-AS1	.	nonsynonymous SNV	FTCD-AS1:NM_001350598:exon2:c.G478A:p.A160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs146723990	0.0040	0.0024	0.0044	0.0035	0.0053	0.0036	0.0034	0.0048	0.0046	0.0008	0.0005	0.0013	0	0.0047	0	0.0053	0.0039	0	0.0031	0.0031	0.0034	0.0028	0.0054	0.0029	0.0028	0.0050	0.0048	0.0009	0.0077	0.0005	0.0029	0	0.0040	0	0.0054	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	64.85	.	chr21	46152546	.	G	A	64.85	.	AC=2;AF=0.067;AN=30;DP=38;ExcessHet=0;FS=0;InbreedingCoeff=0.2857;MLEAC=2;MLEAF=0.067;MQ=60;QD=32.43;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:80,6,0	14	1	0	4
chr22	17818420	17818420	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.G4241A:p.S1414N	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0516370604609	0.0004	0.000798722	0.0007	0.0024	0.0003	0	0	6.314e-05	0.0011	0.0031	0.0005757	89	154602	rs201703400	0.0003	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0.0017	0.0004	0	2.519e-05	0	0.0009	1.889e-05	0.0004	0.0027	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0018	0.0015	0.0020	0	0.0011	0	0.0002	0	0	7.35e-05	0	0.0029	0.068	0.35726	T	0.056	0.46632	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.99997	0.18612	N	2.095	0.58118	M	-0.28	0.67543	T	-1.0	0.26422	N	0.087	0.06454	-0.8642	0.50959	T	0.201	0.55794	T	9	0.005608052	0.00124	T	0.051637	0.64742	D	0.152	0.39956	.	.	0.0934897674506	0.08844	0.25924844083659254	0.25838	0.129465858817	0.14595	0.433167219162	0.29642	T	0.00775	0.07136	T	-0.554959	0.00272	T	-0.573928	0.15091	T	0.0117654007928776	0.00181	T	0.527847	0.17429	T	0.025145918	0.01419	0.06996015	0.14807	0.025145918	0.01419	0.06996015	0.14807	-5.773	0.44338	T	.	.	0.097	0.15966	B	.	.	1.150442	0.15382	11.81	0.97908070175491235	0.36794	0.16386	0.19365	N	AEFDBHCI	0.165105	0.29157	N	-0.517243419713209	0.21523	1.142809	-0.478099737059206	0.22758	1.238	0.879234187231082	0.25582	0.651	0.46895	0	0.577304	0.33150	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.42	4.42	0.52775	1.817000	0.38640	1.297000	0.25449	-0.224000	0.07868	0.984000	0.35821	0.037000	0.21475	0.004000	0.06068	0.1558:0.7602:0.0:0.084	8.345	0.31430	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1098.33	33	chr22	17818420	.	C	T	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=754;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.63;SOR=0.868	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1112,0,1259	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	0/1:118,66:184:99:.:.:1487,0,3045:.	2	12	5	0
chr22	19178310	19178310	C	G	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_001256534:exon1:c.G46C:p.G16R	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	424	1056	41	1	0	43	0.0199536	.	.	.	378568	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0070	0	0.0075	0	0	0.0203	0.0085	0.0022	0.0010479	162	154602	rs558632091	0.0025	0.0024	0.0025	0.0026	0.0305	0.0025	0.0024	0.0266	0.0250	0.0010	0.0019	0.0255	5.875e-05	6.322e-05	0.0305	0.0020	0.0047	0.0034	0.0025	0.0025	0.0025	0.0025	0.0039	0.0023	0.0022	0.0026	0.0021	0.0006	0.0197	0.0023	0.0245	0.0004	9.446e-05	0.0411	0.0025	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	1231.83	35	chr22	19178310	.	C	G	1231.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=642;ExcessHet=0.119;FS=1.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.464;SOR=0.929	GT:AD:DP:GQ:PL	0/1:19,29:48:99:665,0,355	17	0	2	0
chr22	21213145	21213145	G	A	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon12:c.C955T:p.H319Y	.	724	776	21	1	0	23	0.0146032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.0274	0	.	.	.	0.0408	0	.	0.0002329	36	154602	rs749823869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.998495	0.44993	D	.	.	.	2.83	0.10771	T	-5.62	0.86758	D	0.655	0.66959	-0.9059	0.47343	T	0.098	0.36754	T	7	0.014476687	0.00304	T	.	.	.	0.267	0.58126	.	.	0.196089822672	0.19227	0.9171279389418773	0.91687	3.48735837486	0.99735	.	.	.	.	.	.	-0.0600812	0.42896	T	-0.324079	0.42126	T	0.15975962127015	0.17854	T	0.957904	0.84151	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.64839	A	.;.	.;.	2.301525	0.29447	18.13	0.99395599876748419	0.62565	0.91378	0.53413	D	AEFBI	0.634231	0.61418	D	0.22387535086737	0.52359	3.410485	0.0611488377398172	0.42614	2.580594	0.0577911072514629	0.15105	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.7	1.7	0.23359	8.676000	0.90929	11.422000	0.92717	0.305000	0.19019	1.000000	0.71638	1.000000	0.68203	0.388000	0.26514	0.0:0.0:1.0:0.0	9.401	0.37594	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	44.98	3	chr22	21213145	.	G	A	44.98	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.812;DP=195;ExcessHet=0.119;FS=4.682;InbreedingCoeff=-0.0608;MLEAC=2;MLEAF=0.053;MQ=24.32;MQRankSum=1.3;QD=1.73;ReadPosRankSum=1.09;SOR=0.724	GT:AD:DP:GQ:PL	0/1:7,2:9:31:31,0,172	17	0	2	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,96	5	0	13	1
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	0/1:90,9:99:99:107,0,3736	3	0	16	0
chr22	23764093	23764093	G	C	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001331041:exon2:c.G32C:p.C11S,C22orf15:NM_001376903:exon2:c.G32C:p.C11S,C22orf15:NM_001376904:exon2:c.G32C:p.C11S,C22orf15:NM_001376905:exon2:c.G32C:p.C11S,C22orf15:NM_182520:exon2:c.G32C:p.C11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00461656910579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.08787	T	0.835	0.32568	T	0.024	0.19075	B	0.011	0.15521	B	0.203557	0.16540	N	0.542604	1	0.08975	N	1.04	0.26193	L	0.98	0.42122	T	-0.25	0.64246	N	0.238	0.29081	-1.0180	0.24366	T	0.069	0.28080	T	10	0.09084082	0.15860	T	0.004617	0.11440	T	0.063	0.18251	0.58	0.70604	0.112648838833	0.10856	0.05784660736657252	0.05725	0.171582335915	0.19324	.	.	.	0.009887	0.08971	T	-0.093308	0.37530	T	-0.371807	0.36677	T	0.124774785587261	0.14890	T	0.50435	0.15896	T	0.20369163	0.42455	0.10404945	0.24980	0.20369163	0.42455	0.10404945	0.24980	-2.554	0.09642	T	.	.	0.121	0.34383	B	.;.;.	.;.;.	1.426982	0.18448	13.74	0.63824483644842189	0.07327	0.73577	0.35990	D	AEFDBCI	0.218508	0.34351	N	-0.754467701359651	0.14511	0.7235031	-0.755751828215516	0.15581	0.82017	0.999999214802753	0.74766	0.205752	0.04085	2	0.405561	0.06353	1	0.459711	0.06710	0	0.631631	0.49550	0	.	.	3.74	1.39	0.21325	1.539000	0.35710	3.411000	0.38190	0.670000	0.69193	0.707000	0.28693	0.998000	0.33993	0.021000	0.11733	0.1137:0.0:0.6857:0.2006	5.312	0.15143	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	954.33	38	chr22	23764093	.	G	C	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.16;DP=725;ExcessHet=0;FS=0.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-1.296;SOR=0.829	GT:AD:DP:GQ:PL	0/1:38,41:79:99:968,0,994	18	0	1	0
chr22	24184864	24184864	C	T	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon5:c.C706T:p.P236S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0152435163781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312145899	2.052e-06	2.052e-06	4.084e-06	0	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	6.569e-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	0.091	0.31834	T	0.162	0.31225	T	0.015	0.17086	B	0.033	0.22329	B	0.000146	0.49130	D	0.137957	0.999639	0.20820	N	3.02	0.86243	M	2.15	0.19311	T	-3.22	0.64939	D	0.231	0.25989	-1.0397	0.17404	T	0.049	0.21026	T	10	0.111531615	0.20889	T	0.015244	0.35857	T	0.088	0.25558	0.211	0.12923	0.0297737177859	0.01360	0.5822935399003192	0.58158	0.663401381651	0.59013	0.366413831711	0.20317	T	0.057661	0.30628	T	-0.209962	0.19384	T	-0.539373	0.18359	T	0.660760641098022	0.38929	D	0.653235	0.26349	T	0.06257649	0.13086	0.08698641	0.20190	0.06257649	0.13086	0.08698641	0.20189	-3.583	0.17611	T	.	.	0.179	0.39099	B	.	.	2.163354	0.27562	17.50	0.98435722614514798	0.41453	0.77753	0.38267	D	AEFDBI	0.149593	0.27371	N	-0.689262974513043	0.16326	0.8308143	-0.673085279588233	0.17635	0.938592	0.828110749706986	0.24644	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.12	3.1	0.34780	1.918000	0.39636	2.657000	0.33854	-0.180000	0.10397	0.414000	0.26282	0.991000	0.31484	0.030000	0.13115	0.0:0.8992:0.0:0.1008	10.230	0.42424	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1725.33	36	chr22	24184864	.	C	T	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=849;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.378;SOR=0.736	GT:AD:DP:GQ:PL	0/1:124,81:205:99:1739,0,3065	18	0	1	0
chr22	25992432	25992432	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon40:c.C6229T:p.R2077W,MYO18B:NM_032608:exon40:c.C6226T:p.R2076W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	414	1090	17	1	0	19	0.00864029	.	.	.	705850	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.577	0.051947063497	0.0053	0.00259585	0.0044	0.0008	0.0028	0	0.0068	0.0058	0.0022	0.0035	0.0043531	673	154602	rs147898739	0.0056	0.0056	0.0056	0.0056	0.0061	0.0055	0.0054	0.0060	0.0059	0.0009	0.0028	0.0102	0	0.0054	0.0024	0.0061	0.0048	0.0043	0.0039	0.0039	0.0040	0.0038	0.0056	0.0037	0.0036	0.0052	0.0050	0.0010	0	0.0031	0.0104	0	0.0062	0.0136	0.0056	0.0038	0.0033	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.948	0.68536	D	0.000095	0.51296	D	0.078138	0.989157	0.40897	D	2.505	0.72935	M	-2.79	0.91533	D	-7.38	0.94702	D	0.764	0.76666	0.652	0.92563	D	0.788	0.92804	D	10	0.024311632	0.00664	T	0.051947	0.64870	D	0.577	0.82912	.	.	0.935550796387	0.93488	0.6441404262129657	0.64349	0.403975214382	0.41314	0.770931243896	0.77564	T	0.630886	0.88559	D	-0.0840498	0.39052	T	0.113031	0.77773	D	0.0310669745888786	0.02156	T	0.966303	0.87634	D	0.7143402	0.78847	0.5891756	0.76167	0.7399745	0.80292	0.5553399	0.74283	-9.779	0.72577	D	.	.	0.666	0.71578	P	.;.;.	.;.;.	4.077374	0.60628	24.2	0.99910427374318944	0.98022	0.79449	0.39371	D	AEFGBI	0.725726	0.67462	D	0.317332313064618	0.57037	3.86977	0.184900398666448	0.49018	3.110294	0.473051238865149	0.20723	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.17	-1.79	0.07504	2.308000	0.43350	0.425000	0.18262	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.998000	0.85391	0.7291:0.2709:0.0:0.0	15.292	0.73577	917	0.20147	.;.;.	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1605.33	40	chr22	25992432	.	C	T	1605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.415;DP=837;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=2.09;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,70:143:99:1619,0,1842	18	0	1	0
chr22	29801042	29801042	T	C	exonic	ASCC2	.	nonsynonymous SNV	ASCC2:NM_001369942:exon12:c.A1103G:p.D368G,ASCC2:NM_001369944:exon12:c.A929G:p.D310G,ASCC2:NM_001369947:exon12:c.A929G:p.D310G,ASCC2:NM_001369930:exon13:c.A1403G:p.D468G,ASCC2:NM_001369936:exon13:c.A1295G:p.D432G,ASCC2:NM_001369943:exon13:c.A929G:p.D310G,ASCC2:NM_001369950:exon13:c.A929G:p.D310G,ASCC2:NM_001242906:exon14:c.A1409G:p.D470G,ASCC2:NM_001369925:exon14:c.A1478G:p.D493G,ASCC2:NM_001369927:exon14:c.A1478G:p.D493G,ASCC2:NM_001369929:exon14:c.A1478G:p.D493G,ASCC2:NM_001369934:exon14:c.A1295G:p.D432G,ASCC2:NM_001369937:exon14:c.A1295G:p.D432G,ASCC2:NM_001369939:exon14:c.A1295G:p.D432G,ASCC2:NM_001369941:exon14:c.A1295G:p.D432G,ASCC2:NM_001369949:exon14:c.A929G:p.D310G,ASCC2:NM_001369920:exon15:c.A1637G:p.D546G,ASCC2:NM_001369924:exon15:c.A1637G:p.D546G,ASCC2:NM_001369926:exon15:c.A1478G:p.D493G,ASCC2:NM_001369933:exon15:c.A1295G:p.D432G,ASCC2:NM_001369940:exon15:c.A1295G:p.D432G,ASCC2:NM_001369945:exon15:c.A929G:p.D310G,ASCC2:NM_032204:exon15:c.A1637G:p.D546G,ASCC2:NM_001369922:exon16:c.A1637G:p.D546G,ASCC2:NM_001369923:exon16:c.A1637G:p.D546G,ASCC2:NM_001369928:exon16:c.A1478G:p.D493G,ASCC2:NM_001369932:exon16:c.A1295G:p.D432G,ASCC2:NM_001369935:exon16:c.A1295G:p.D432G,ASCC2:NM_001369938:exon16:c.A1295G:p.D432G,ASCC2:NM_001369946:exon16:c.A929G:p.D310G,ASCC2:NM_001369948:exon16:c.A929G:p.D310G,ASCC2:NM_001369921:exon17:c.A1637G:p.D546G,ASCC2:NM_001369931:exon18:c.A1295G:p.D432G	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0956103917689	0.0073	0.00239617	0.0062	0.0011	0.0019	0	0.0042	0.0098	0.0022	0.0026	0.0074061	1145	154602	rs34833047	0.0086	0.0087	0.0087	0.0085	0.0104	0.0085	0.0084	0.0101	0.0100	0.0015	0.0024	0.0033	2.532e-05	0.0044	0.0104	0.0103	0.0066	0.0030	0.0049	0.0049	0.0055	0.0043	0.0088	0.0046	0.0045	0.0083	0.0080	0.0013	0	0.0020	0.0035	0	0.0023	0.0068	0.0088	0.0057	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.965	0.56013	D	0.772	0.56930	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	2.25	0.55439	T	-5.43	0.92346	D	0.944	0.95139	-0.3317	0.74084	T	0.278	0.65007	T	10	0.011294782	0.00248	T	0.09561	0.76458	D	0.499	0.78288	.	.	0.658992472688	0.65613	0.7314164365503856	0.73086	1.25672025963	0.81924	0.599450290203	0.52826	T	0.313317	0.71445	T	-0.0114327	0.50065	T	0.223775	0.84365	D	0.02521964234416	0.01302	T	0.949205	0.80472	D	0.89989084	0.91373	0.7929983	0.87832	0.89989084	0.91374	0.7929983	0.87832	-17.061	0.98962	D	.	.	0.932	0.92454	P	.;.;.;.	.;.;.;.	4.942344	0.81574	27.6	0.99848373152255032	0.92838	0.99004	0.89829	D	AEFBI	0.887395	0.81961	D	0.759165411296135	0.83499	8.033823	0.727403368585979	0.84457	8.297856	0.99999999996839	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.259000	0.77791	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.519	0.67423	604	0.67577	.;.;.;.	.	.	.	.	rs34833047	Uncertain significance	0	0	0	0	0	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	0.009537	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1049.33	36	chr22	29801042	.	T	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=730;ExcessHet=0;FS=3.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.922;SOR=1.131	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1063,0,1371	18	0	1	0
chr22	30572820	30572830	AGGAGCCCTTC	-	exonic	GAL3ST1	.	frameshift deletion	GAL3ST1:NM_001318109:exon1:c.39_49del:p.K14Afs*4	.	1012	509	1	0	0	1	0.000981354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389057644	0	1.272e-05	0	0	.	0	0	.	.	.	0	.	0	0	.	0	0	.	7.228e-05	7.223e-05	5.14e-05	9.415e-05	0.0002	3.971e-05	3.127e-05	7.91e-05	5.995e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	723.29	34	chr22	30572819	.	AAGGAGCCCTTC	A	723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=700;ExcessHet=0;FS=2.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.427;SOR=1.068	GT:AD:DP:GQ:PL	0/1:32,20:52:99:737,0,1253	18	0	1	0
chr22	33650564	33650564	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001362951:exon3:c.G211A:p.E71K,LARGE1:NM_001362953:exon3:c.G211A:p.E71K,LARGE1:NM_001378626:exon3:c.G211A:p.E71K,LARGE1:NM_001378627:exon3:c.G211A:p.E71K,LARGE1:NM_001378628:exon3:c.G211A:p.E71K,LARGE1:NM_001378629:exon3:c.G211A:p.E71K,LARGE1:NM_133642:exon3:c.G211A:p.E71K,LARGE1:NM_001362949:exon4:c.G211A:p.E71K,LARGE1:NM_001378624:exon4:c.G211A:p.E71K,LARGE1:NM_001378625:exon4:c.G211A:p.E71K,LARGE1:NM_004737:exon4:c.G211A:p.E71K	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	169759	Muscular_dystrophy-dystroglycanopathy_type_B6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|not_provided|Muscular_dystrophy|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1	MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MedGen:C3661900|Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	0.0178003397791	0.0011	0.000199681	0.0007	0.0002	0.0009	0.0001	0.0002	0.0011	0	0.0001	0.000718	111	154602	rs116164106	0.0014	0.0014	0.0014	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0003	0.0006	0	0.0005	0.0003	0.0003	0.0017	0.0016	0.0001	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0007	0	0	0.0002	0	0.0016	0.0014	0.0002	0.186	0.38863	T	0.394	0.92824	T	0.004	0.14655	B	0.002	0.13708	B	0.000780	0.41888	D	0.239216	0.995273	0.42618	D	.	.	.	1.07	0.39586	T	-0.68	0.54382	N	0.532	0.56058	-1.0303	0.20357	T	0.128	0.43666	T	10	0.030572116	0.01185	T	0.018	0.39638	T	0.137	0.36984	.	.	0.353785824208	0.34994	0.5844088534200901	0.58369	0.585355483507	0.54180	0.683034062386	0.64704	T	0.235975	0.60335	T	-0.30857	0.07874	T	-0.222183	0.52526	T	0.0168378524173143	0.00437	T	0.958704	0.84427	D	0.067728214	0.14692	0.10693438	0.25735	0.067728214	0.14692	0.10693438	0.25734	-9.568	0.71282	D	.	.	0.130	0.55754	B	.;.;.;.;.;.	.;.;.;.;.;.	3.776696	0.54279	23.5	0.99790860707317475	0.87661	0.98146	0.79995	D	AEFBHI	0.714027	0.66664	D	-0.0775622196656698	0.38379	2.246846	0.109128692884265	0.45015	2.772256	0.999999999185346	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.620846	0.47308	0	.	.	5.84	5.84	0.93373	5.244000	0.65222	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	20.153	0.98095	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	.	.	.	.	.	.	.	.	0.02632	895.33	35	chr22	33650564	.	C	T	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=729;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.316;SOR=0.404	GT:AD:DP:GQ:PL	0/1:52,42:94:99:909,0,1151	18	0	1	0
chr22	39102545	39102545	G	C	exonic	APOBEC3H	.	nonsynonymous SNV	APOBEC3H:NM_001166004:exon4:c.G452C:p.G151A,APOBEC3H:NM_001166003:exon5:c.G577C:p.D193H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00154844981851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202632819	7.064e-06	6.359e-06	0	1.309e-05	0.0002	1.65e-06	1.12e-06	1.05e-06	3.9e-07	0	0	0	0	0	0.0002	6.308e-06	3.257e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.26	0.67187	T	-1.05	0.27463	N	0.227	0.25499	-0.9718	0.36819	T	0.111	0.39770	T	6	0.08945629	0.15496	T	0.001548	0.02445	T	0.033	0.08068	0.487	0.57098	0.043077524339	0.03247	0.4784843010069408	0.47768	0.460280711038	0.45581	0.463977277279	0.33855	T	0.007321	0.06733	T	-0.142659	0.29468	T	-0.42721	0.30252	T	0.107495211967754	0.13162	T	0.435056	0.11905	T	0.10806824	0.25552	0.20940018	0.45283	0.10806824	0.25551	0.20940018	0.45282	-5.07	0.37590	T	.	.	0.209	0.43585	B	.;.	.;.	0.888988	0.12623	9.150	0.84500265714197664	0.15328	0.00701	0.02979	N	AEFDI	0.026376	0.01968	N	-0.878143197625299	0.11364	0.5480013	-1.06280640069701	0.08442	0.4151037	0.0151033343208094	0.12675	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.131	0.131	0.14055	0.199000	0.17037	0.667000	0.20560	0.217000	0.18040	0.070000	0.22072	0.005000	0.19230	0.046000	0.14843	.	.	.	314	0.87270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1040.33	33	chr22	39102545	.	G	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=731;ExcessHet=0;FS=7.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.422;SOR=0.714	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1054,0,1118	18	0	1	0
chr22	39513721	39513721	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G790A:p.D264N,MIEF1:NM_019008:exon6:c.G790A:p.D264N	.	426	1081	15	0	0	15	0.00689022	.	.	.	3407988	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	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.342	.	0.0078	0.00199681	0.0062	0.0016	0.0016	0	0.0055	0.0093	0.0088	0.0033	0.0066235	1024	154602	rs2232091	0.0090	0.0090	0.0092	0.0088	0.0109	0.0089	0.0088	0.0107	0.0106	0.0013	0.0021	0.0007	2.519e-05	0.0049	0.0010	0.0109	0.0061	0.0038	0.0062	0.0062	0.0068	0.0056	0.0106	0.0058	0.0057	0.0100	0.0097	0.0017	0.0011	0.0041	0	0	0.0044	0	0.0106	0.0061	0.0046	0.127	0.27783	T	0.195	0.29639	T	0.722	0.42387	P	0.383	0.43945	B	0.000037	0.55875	D	0.195954	0.999756	0.48800	D	-0.11	0.04642	N	3.09	0.08371	T	-1.14	0.33998	N	0.314	0.35408	-1.1016	0.03903	T	0.022	0.09467	T	10	0.0066976547	0.00152	T	.	.	.	0.342	0.66392	.	.	0.505640481493	0.50201	0.26399582594437004	0.26312	0.396982738473	0.40801	0.562705039978	0.47649	T	0.016089	0.13370	T	-0.639447	0.00084	T	-0.679622	0.07007	T	0.0437599858947382	0.04377	T	0.711829	0.32527	T	0.1715629	0.37797	0.24830832	0.50379	0.1715629	0.37796	0.24830832	0.50378	-5.711	0.43791	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.298561	0.65610	24.9	0.99827324287167707	0.90939	0.99524	0.97054	D	AEFDBI	0.926441	0.90755	D	0.38966932153605	0.60862	4.27994	0.548490651309824	0.71293	5.632706	1.0	0.98316	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.992000	0.99232	7.577000	0.60860	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	20.644	0.99572	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2621.33	33	chr22	39513721	.	G	A	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.757;DP=844;ExcessHet=0;FS=1.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.156;SOR=0.792	GT:AD:DP:GQ:PL	0/1:119,103:222:99:2635,0,3338	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|1:185,40:225:99:0|1:42128812_A_G:1113,0,7612:42128812	12	0	6	1
chr22	42514716	42514716	G	A	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon5:c.C524T:p.T175M	.	421	1022	79	0	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0059	.	0.0104	0.0011	0.0031	0.0003	0.0032	0.0108	0.0188	0.0260	0.0004204	65	154602	rs141505384	0.0064	0.0072	0.0058	0.0071	0.0397	0.0063	0.0063	0.0355	0.0338	0.0014	0.0045	0.0219	0.0001	0.0027	0.0397	0.0053	0.0077	0.0209	0.0051	0.0054	0.0050	0.0051	0.0171	0.0048	0.0046	0.0141	0.0130	0.0011	0.0011	0.0061	0.0185	0	0.0019	0.0204	0.0065	0.0076	0.0171	0.032	0.44694	D	0.091	0.40110	T	0.999	0.77913	D	0.912	0.64797	D	0.681722	0.10252	N	0.859961	0.999988	0.18198	N	1.625	0.41611	L	1.84	0.24656	T	-2.21	0.49684	N	0.287	0.32481	-1.0487	0.14761	T	0.102	0.37743	T	10	0.010819316	0.00239	T	.	.	.	0.108	0.30607	.	.	0.483153943251	0.47947	0.24857725245994056	0.24771	2.62205694876	0.98273	0.403813183308	0.25599	T	0.136585	0.46904	T	-0.522364	0.00426	T	-0.507521	0.21570	T	0.0123048667362909	0.00199	T	0.834017	0.50309	T	0.089632064	0.20948	0.12695254	0.30567	0.089632064	0.20948	0.12695254	0.30567	-5.864	0.45127	T	.	.	0.090	0.12465	B	.	.	4.139315	0.62006	24.4	0.99785223286555202	0.87131	0.46820	0.27845	N	AEFDGBCI	0.164871	0.29130	N	0.275779643591207	0.54923	3.656973	0.135222655987922	0.46362	2.88357	0.192584466979158	0.18018	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.8	2.68	0.30839	3.366000	0.52068	4.582000	0.43923	0.479000	0.22080	0.920000	0.31959	0.979000	0.30280	0.250000	0.23263	0.0:0.0:0.6848:0.3152	11.166	0.47770	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027304	0.012500	0.027248	0.034483	0.000000	0.052632	0.031469	0.032787	0.07895	10652.8	34	chr22	42514716	.	G	A	10652.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.72;DP=2512;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=52.01;MQRankSum=-2.908;QD=9.12;ReadPosRankSum=0.635;SOR=0.72	GT:AD:DP:GQ:PL	0/1:262,231:493:99:5302,0,5932	16	0	3	0
chr22	42554982	42554982	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_014509:exon2:c.G67A:p.A23T	.	466	1052	4	0	0	4	0.00189753	.	.	.	3900367	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.01519208534	.	.	0.0001	0	0.0004	0	0.0005	6.038e-05	0	0.0004	3.84e-05	1	26028	rs760043089	7.309e-05	6.93e-05	5.885e-05	8.695e-05	0.0010	5.939e-05	5.463e-05	0.0003	0.0002	0	0.0004	0	0	0.0002	0.0010	3.099e-05	2.232e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.673e-05	0.0004	0.0003	2.637e-05	0	0.0008	0	0	0.0005	0.0071	1.509e-05	0.0005	0.0002	0.014	0.53172	D	0.018	0.59732	D	1.0	0.90584	D	0.964	0.71005	D	0.000424	0.44522	D	0.224693	0.999612	0.30443	N	.	.	.	3.69	0.16794	T	-3.26	0.65397	D	0.516	0.61172	-1.0580	0.12260	T	0.103	0.37969	T	10	0.21377498	0.37880	T	0.015192	0.35777	T	0.096	0.27654	.	.	0.0297737177859	0.01360	0.4579740390110822	0.45715	2.24570123189	0.96051	0.681156277657	0.64434	T	0.079642	0.36178	T	-0.404101	0.02176	T	-0.454076	0.27246	T	0.596310973167419	0.36254	D	0.815218	0.46991	T	0.12347749	0.28993	0.15410666	0.36183	0.12347749	0.28993	0.15410666	0.36182	-10.71	0.78044	D	.	.	0.184	0.47643	B	.;.	.;.	4.176458	0.62841	24.5	0.99823932149214412	0.90677	0.49260	0.28393	N	AEFDGBI	0.088255	0.17892	N	0.174427719980604	0.49974	3.192003	-0.0466058102315386	0.37637	2.20642	0.996548716841562	0.34819	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.67	0.348	0.15264	3.864000	0.55736	4.451000	0.43422	-0.108000	0.15293	0.998000	0.41325	1.000000	0.68203	0.821000	0.38685	0.0:0.1661:0.662:0.1718	8.695	0.33451	257	0.89904	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001899	0.000000	0.001377	0.004673	0.000000	0.009259	0.004132	0.000000	0.02632	215.38	10	chr22	42554982	.	G	A	215.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=283;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.026;MQ=27.61;MQRankSum=-0.778;QD=8.28;ReadPosRankSum=-0.571;SOR=0.34	GT:AD:DP:GQ:PL	0/1:15,11:26:99:229,0,352	18	0	1	0
chr22	43133152	43133152	C	T	exonic	MCAT	.	nonsynonymous SNV	MCAT:NM_173467:exon4:c.G1064A:p.G355E	.	.	.	.	.	.	.	.	.	.	.	3278304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.0676140668138	7.7e-05	0.000199681	0.0003	0	0.0002	0	0	0.0004	0.0011	0.0003	0.0002652	41	154602	rs142380867	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	2.987e-05	0.0002	0.0034	0	0	0.0019	5.665e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	8.284e-05	2.405e-05	0	0.0003	0.0052	0	0	0.0034	1.47e-05	0.0014	0.0004	0.131	0.26629	T	0.363	0.16815	T	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	0.98	0.42122	T	-4.19	0.75615	D	0.881	0.87917	-0.6691	0.61869	T	0.275	0.64660	T	10	0.21971494	0.38648	T	0.067614	0.70216	D	0.502	0.78475	.	.	0.741748209757	0.73943	0.8005467128224002	0.80008	1.15784750096	0.79393	0.545394718647	0.45207	T	0.63743	0.88839	D	0.0419343	0.57299	T	0.114608	0.77878	D	0.333497405052185	0.26365	T	0.935206	0.75689	D	0.865103	0.88478	0.6346571	0.78674	0.865103	0.88479	0.6346571	0.78675	-9.346	0.69896	D	.	.	0.710	0.73363	P	.	.	4.937143	0.81443	27.6	0.9968722761601817	0.79708	0.95711	0.65830	D	AEFDBCI	0.913418	0.87537	D	0.664567104659805	0.77314	6.651108	0.625606118346219	0.76804	6.559166	0.999999999999905	0.74766	0.743674	0.98306	0	0.702456	0.74545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.514000	0.80644	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:1.0:0.0:0.0	19.317	0.94209	809	0.43032	Polyketide synthase, acyl transferase 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	0.008621	0.000000	0.000000	0.02632	1704.33	46	chr22	43133152	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.261;DP=987;ExcessHet=0;FS=2.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.79;SOR=0.941	GT:AD:DP:GQ:PL	0/1:76,69:145:99:1718,0,1988	18	0	1	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ 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	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.07895	7786.79	35	chr22	46262091	.	G	A	7786.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.779;DP=1269;ExcessHet=0.3672;FS=1.097;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.542;SOR=0.608	GT:AD:DP:GQ:PL	0/1:94,94:188:99:2413,0,2530	16	0	3	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,60:108:99:0|1:49922284_CG_C:2036,0,1542:49922284	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,60:108:99:0|1:49922284_CG_C:2036,0,1542:49922284	13	1	4	1
chrX	3322696	3322696	T	C	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.A2989G:p.T997A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00904254432841	.	.	1.14e-05	0	0	0	0	0	0	9.878e-05	6.5e-06	1	154602	rs772413175	7.284e-06	7.284e-06	5.445e-06	1.1e-05	0.0002	3.13e-06	2.26e-06	3.54e-05	2.356e-05	0	0	0	0	0	0.0002	2.375e-06	0	9.234e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.751	0.04790	T	0.001	0.07471	B	0.002	0.06944	B	0.874117	0.08803	N	0.919392	1	0.08975	N	1.5	0.37844	L	0.0	0.62608	T	-1.58	0.38151	N	0.015	0.00181	-1.0478	0.15016	T	0.072	0.29259	T	10	0.06308755	0.08166	T	0.009043	0.23797	T	0.057	0.16321	0.257	0.19845	0.284539287134	0.28064	0.10216976969845262	0.10146	0.0621019868724	0.06914	0.21798196435	0.01197	T	0.002641	0.02035	T	-0.51333	0.00481	T	-0.824846	0.01357	T	0.0546678640340264	0.06302	T	0.381962	0.09278	T	0.05812858	0.11658	0.096754	0.23003	0.05812858	0.11657	0.096754	0.23002	-4.004	0.23864	T	.	.	0.075	0.05360	B	.	.	-0.034997	0.04048	0.936	0.44317193661689902	0.03398	0.01767	0.05549	N	AEFBI	.	.	.	.	.	.	.	.	.	0.171847158969599	0.17747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.15	-6.02	0.02008	-0.147000	0.10218	-1.505000	0.05288	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1591:0.3171:0.1607:0.3631	1.049	0.01477	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2052.81	100	chrX	3322696	.	T	C	2052.81	.	AC=2;AF=0.053;AN=38;DP=1130;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.75;SOR=1.296	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2080,207,0	18	1	0	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|1:159,51:210:99:0|1:6533736_G_C:1663,0,6523:6533736	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|1:51,68:119:99:1|0:6533736_G_C:2452,0,1970:6533736	14	0	5	0
chrX	6533823	6533823	C	0	exonic	VCX3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	265.16	497	chrX	6533823	.	C	*	265.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.029;DP=4013;ExcessHet=0.607;FS=25.833;InbreedingCoeff=-0.0149;MLEAC=4;MLEAF=0.4;MQ=43.57;MQRankSum=2.18;QD=0.76;ReadPosRankSum=1.56;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,51:217:99:0|1:6533736_G_C:1631,0,6805:6533736	3	0	2	14
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	0/1:113,101:214:99:2210,0,2623	17	0	2	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	0/1:82,583:665:99:15908,0,269	0	4	15	0
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	0/1:70,425:495:99:12229,0,549	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:316,72:388:99:1153,0,9707	8	0	10	1
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	0/1:77,274:351:99:7506,0,1581	0	0	19	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	0/1:52,218:270:99:6040,0,773	0	0	19	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.022149	0.021277	0.020952	0.005988	0.000000	0.000000	0.043243	0.029940	0.05263	731.81	39	chrX	57594011	.	T	A	731.81	.	AC=2;AF=0.053;AN=38;DP=639;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=30.3;QD=31.82;SOR=2.4	GT:AD:DP:GQ:PL	1/1:0,23:23:69:759,69,0	18	1	0	0
chrX	130067217	130067217	G	A	exonic	ELF4	.	nonsynonymous SNV	ELF4:NM_001127197:exon9:c.C1496T:p.P499L,ELF4:NM_001421:exon9:c.C1496T:p.P499L	.	.	.	.	.	.	.	.	.	.	.	3510375	ELF4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00329419705452	9.5e-05	.	1.186e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs371747723	2.278e-05	2.276e-05	2.315e-05	2.204e-05	7.579e-05	1.563e-05	1.321e-05	1.254e-05	9.1e-06	7.579e-05	0	0	6.623e-05	0	0	1.901e-05	8.684e-05	1.848e-05	7.097e-05	6.959e-05	0.0001	0	0.0004	3.446e-05	2.499e-05	2.559e-05	1.481e-05	9.659e-05	0	0	0	0	0	0	7.517e-05	0	0.0004	0.095	0.31235	T	0.842	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.701010	0.06202	N	1.170300	1	0.08975	N	0.46	0.12951	N	2.12	0.19726	T	-0.7	0.19933	N	0.081	0.05929	-0.9943	0.31485	T	0.035	0.15204	T	10	0.051219344	0.04971	T	0.003294	0.07298	T	0.071	0.20720	.	.	0.21174354426	0.20776	0.3818436429586098	0.38099	0.305461879015	0.32852	0.515462040901	0.40988	T	0.09897	0.40332	T	-0.592093	0.00163	T	-0.937984	0.00302	T	0.0264771900419572	0.01470	T	0.70183	0.31914	T	0.049515206	0.08803	0.08729371	0.20281	0.049515206	0.08802	0.08729371	0.20281	-4.22	0.27040	T	.	.	0.067	0.06341	B	.;.;.	.;.;.	1.004148	0.13828	10.38	0.77744414602398193	0.12004	0.55339	0.29839	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.0403574071852385	0.14435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.71	1.82	0.24209	1.244000	0.32381	3.376000	0.37968	0.674000	0.70861	0.037000	0.20830	1.000000	0.68203	0.980000	0.58198	0.3337:0.0:0.6663:0.0	4.585	0.11671	434	0.80536	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1765.81	37	chrX	130067217	.	G	A	1765.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.98;SOR=0.96	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1793,171,0	18	1	0	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	0/1:31,15:46:40:40,0,418	2	0	17	0
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L,MAGEA11:NM_005366:exon5:c.A280C:p.I94L	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	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	0.010323	0.006803	0.009276	0.011858	0.000000	0.023529	0.008850	0.010526	0.05263	2341.81	103	chrX	149715766	.	A	C	2341.81	.	AC=2;AF=0.053;AN=38;DP=1123;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.98;SOR=1.195	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2369,213,0	18	1	0	0
chrX	154462261	154462261	G	A	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon4:c.G1268A:p.R423H	.	422	1099	1	0	0	1	0.000454752	.	.	.	2260062	not_specified|PLXNA3-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00435764657328	0.0007	.	0.0005	0.0001	0.0008	0.0002	0.0011	0.0005	0	0.0001	0.0003363	52	154602	rs139368340	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	0.0001	0.0005	0	6.883e-05	0.0006	0	0.0005	0.0003	0.0002	0.0004	0.0005	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	9.634e-05	0	0	0	0	0.0002	0	0.0008	0	0	0.262	0.16466	T	0.217	0.26145	T	.	.	.	.	.	.	0.043960	0.23688	N	0.509696	0.988974	0.24350	N	.	.	.	3.59	0.04544	T	-0.85	0.23156	N	0.059	0.03069	-0.9458	0.41681	T	0.009	0.03054	T	10	0.023779929	0.00633	T	0.004358	0.10624	T	0.030	0.07022	.	.	0.171220215726	0.16700	0.31692890067236523	0.31605	.	.	0.255529820919	0.04372	T	.	.	.	-0.847159	0.00003	T	-1.04601	0.00070	T	0.018942736854373	0.00604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.	.	0.813921	0.11849	8.417	0.94107900976192749	0.24276	0.07534	0.13547	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.997563778931775	0.35763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.77	-0.346	0.11994	0.470000	0.21795	-0.495000	0.08836	-0.136000	0.12710	0.059000	0.21734	0.000000	0.08366	0.951000	0.49849	0.497:0.0:0.503:0.0	9.589	0.38702	74	0.96871	.	.	.	.	.	.	Likely benign	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	1	0	0.001391	0.006993	0.000000	0.003968	0.000000	0.000000	0.000000	0.000000	0.05263	943.81	43	chrX	154462261	.	G	A	943.81	.	AC=2;AF=0.053;AN=38;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.49;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,32:32:96:971,96,0	18	1	0	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5912.29	36	chrX	154776813	.	C	CAAG	5912.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.737;DP=767;ExcessHet=0;FS=3.044;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=0.404;SOR=0.487	GT:AD:DP:GQ:PL	1/1:1,59:60:99:2593,135,0	16	2	1	0
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1206.54	.	chrY	9467257	.	G	A	1206.54	.	AC=3;AF=0.167;AN=18;BaseQRankSum=1.66;DP=159;ExcessHet=0.8432;FS=2.407;MLEAC=5;MLEAF=0.278;MQ=34.27;MQRankSum=-0.869;QD=16.09;ReadPosRankSum=-0.261;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,18:28:99:.:.:446,0,196:.	6	0	3	10